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Cholestasis-pigmentary retinopathy-cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Cholestasis-pigmentary retinopathy-cleft palate syndrome	c0795969	30,400	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1415	2021-01-23T18:31:09	{"gard": ["9280"], "mesh": ["C535632"], "omim": ["612726"], "umls": ["C0795969"], "synonyms": ["Hardikar syndrome"]}
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages) This article needs to be updated. Please update this article to reflect recent events or newly available information. (May 2020) This article needs attention from an expert in medicine. Please add a reason or a talk parameter to this template to explain the issue with the article. WikiProject Medicine may be able to help recruit an expert. (November 2008) (Learn how and when to remove this template message) In 2008, 4.7 million people in Asia were living with human immunodeficiency virus (HIV). Asia's epidemic peaked in the mid-1990s, and annual HIV incidence has declined since then by more than half. Regionally, the epidemic has remained somewhat stable since 2000.[1] People living with HIV/AIDS (CIA), in absolute numbers for the year of 2008. Large numbers of people live with HIV even in countries with relatively low HIV prevalence levels due to their large populations. Estimated per capita prevalence of HIV among young adults (15–49) by country as of 2011.[2] ## Contents * 1 South Asia * 1.1 Afghanistan * 1.2 Bangladesh * 1.3 Bhutan * 1.4 India * 1.5 Nepal * 1.6 Pakistan * 1.7 Sri Lanka * 2 East Asia * 2.1 China * 2.2 Japan * 2.3 North Korea * 2.4 South Korea * 2.5 Taiwan * 3 South-East Asia * 3.1 Cambodia * 3.2 East Timor (Timor-Leste) * 3.3 Indonesia * 3.4 Laos * 3.5 Malaysia * 3.6 Myanmar * 3.7 Philippines * 3.8 Singapore * 3.9 Thailand * 3.10 Vietnam * 4 West Asia * 4.1 Armenia * 4.2 Azerbaijan * 4.3 Bahrain * 4.4 Iran * 4.5 Iraq * 4.6 Jordan * 4.7 Saudi Arabia * 4.8 Turkey * 4.9 United Arab Emirates * 5 See also * 6 References * 7 External links ## South Asia[edit] Compared with other regions, notably Africa and the Americas, national HIV prevalence levels in South Asia are very low (0.3% in the adult (15–49) group). However, due to the large populations of many South Asian nations, this low national HIV prevalence still means that many people have HIV. In South Asia, the HIV epidemic remains largely concentrated in injecting drug users, men who have sex with men, sex workers, clients of sex workers and their immediate sexual partners. Prevention strategies in these populations are, for the most part, inadequate. ### Afghanistan[edit] Main article: HIV/AIDS in Afghanistan The prevalence of HIV in Afghanistan is 0.04%.[3] According to Afghanistan's National Aids Control Program (NACP), 504 cases of HIV/AIDS were documented in late 2008.[4] By the end of 2012, the number reached 1,327.[5] As of 2015, as many as 6,900 people were living in Afghanistan with HIV and about 300 had died in from the disease.[3] ### Bangladesh[edit] Main article: HIV/AIDS in Bangladesh With less than 0.1% of the population estimated to be HIV-positive, Bangladesh is a low HIV-prevalence country. UNAIDS estimates that 11,000 people live with HIV in the country.[6] ### Bhutan[edit] Main article: HIV/AIDS in Bhutan In 2011, there were 246 reported cases of HIV in Bhutan, representing just over 0.03% of the population.[7] However, Health Ministry sources indicated actual numbers were estimated at more than 500 by UNAIDS.[8] ### India[edit] Main article: HIV/AIDS in India In 2015, the NACO estimated that 2.11 million people live with HIV/AIDS in India.[9] As of 2018, India has the third most people with HIV after South Africa and Nigeria.[10] However, the AIDS prevalence rate in India is lower than many other countries. In 2016, India's AIDS prevalence rate stood at approximately 0.30%, the 80th highest in the world.[11] ### Nepal[edit] Main article: HIV/AIDS in Nepal UNAIDS estimates from 2007 indicate that approximately 75,000 people in Nepal are HIV-positive across all age groups. The Government of Nepal's National Center for AIDS & STD Control (NCASC) estimated that number to be closer to 70,000 in December 2007. A study from 2014 found that the overall national HIV prevalence was 0.20% (adult male 0.28%, adult female 0.13%). According to UNAIDS, by the end of 2015, the number of people living with HIV was 39,000 [34,000–46,000].[6] NCASC (2010) reports that the estimated number of HIV infections by risk groups is 59,984.[12][13] ### Pakistan[edit] Main article: HIV/AIDS in Pakistan The Pakistan National AIDS Control Program estimated that in 2018, there were a total of 160,000 people living with HIV.[14] However, there are only 39,529 cases of HIV that have been registered with the National AIDS Control Program, of which 22,947 are receiving antiretroviral therapy.[15] The HIV prevalence rate is far higher among people who inject drugs (21.0%) compared to the general population of people aged 15 to 49 (0.1%).[16] ### Sri Lanka[edit] Main article: HIV/AIDS in Sri Lanka ## East Asia[edit] National HIV prevalence levels in East Asia are much lower (0.1% in the adult (15-49) group) than in much of Africa and the Americas. Similar to South Asian countries, low national HIV prevalence still means that large numbers of people are living with HIV. ### China[edit] Main article: HIV/AIDS in the People's Republic of China Much of the current spread of HIV in the People's Republic of China is through intravenous drug abuse and paid sex. In rural areas, especially in Henan province, large numbers of farmers had contaminated blood transfusions; estimates of those infected are in the tens of thousands.[citation needed] ### Japan[edit] Main article: HIV/AIDS in Japan Official figures (English) for July–October 2006 showed that just over half of domestic HIV/AIDS cases were among homosexual men, with the remainder transmitted through heterosexual intercourse, drug abuse, in the womb or via unknown means. As of 2015, there had been 17,909 HIV and 8,086 AIDS cases reported in Japan since 1985.[17] ### North Korea[edit] Main article: HIV/AIDS in North Korea According to UNAIDS, less than 0.2% of North Korea's adult population has HIV.[18] WHO estimates that North Korea has less than 100 people with HIV/AIDS.[19] Officially, the country maintains that it is completely free of AIDS.[20] ### South Korea[edit] The cumulative reported cases of HIV in South Korea has surpassed 6,000, with 797 reported in 2008.[21] According to the Korea Centers for Disease Control and Prevention, the prevalence of HIV in South Korea is rising. The first case of HIV was in 1985.[22] By 2000, the number of people diagnosed with HIV was 219, and this had risen to 797 in 2008.[23] Males had a much higher infection rate.[23] In order to prevent Korean women from contracting HIV, HIV positive males should be detected early on.[24] The most commonly recognized mode of transmission in South Korea is through heterosexual sexual contact.[22] Due to the lower prevalence of HIV in South Korea, the Korean media has represented HIV as a disease brought to Korea by foreigners from other countries.[25] The Korean government has created policies to incorporate these ideas. Any foreigners who plan to stay in South Korea must test for HIV, and if results show they are positive, they are no longer able to stay in the country for any reason.[25] ### Taiwan[edit] Main article: HIV/AIDS in Taiwan As of March 2016, there were 31,620 reported cases of Taiwanese nationals testing positive for HIV/AIDS.[26] Currently, HIV/AIDS patients who are Taiwanese nationals receive free medical care (including HAART therapies) from the state. Non-governmental organizations have set up "AIDS Half-Way Houses" for homeless patients. The ratio of patients who are drug users has increased rapidly, which has led the authority to promote a harm reduction program. ## South-East Asia[edit] National HIV prevalence levels in South-East Asia are very low, at 0.3% in the adult (15-49) group. In Southeast Asia, the HIV epidemic remains largely concentrated in injecting drug users, men who have sex with men, sex workers, and clients of sex workers and their immediate sexual partners. Prevention strategies in these populations are generally inadequate. ### Cambodia[edit] Main article: HIV/AIDS in Cambodia Between 2003 and 2005, the estimated HIV prevalence among Cambodian adults aged 15 to 49 declined from 2.0% to 1.6%.[27] ### East Timor (Timor-Leste)[edit] Main article: HIV/AIDS in East Timor Timor-Leste is a low HIV-prevalence country with less than 0.2% of the adult population estimated to be HIV-positive. Forty-three cases of the disease were confirmed in 2007 and are now under treatment, according to the Ministry of Health. ### Indonesia[edit] Main article: HIV/AIDS in Indonesia UNAIDS has said that HIV/AIDS in Indonesia is one of Asia's fastest growing epidemics.[28] It was expected that 5 million Indonesians would have HIV/AIDS by 2010.[29] In 2007, Indonesia was ranked 99th in the world by prevalence rate, but because of low understanding of the symptoms of the disease and high social stigma attached to it, only 5–10% of HIV/AIDS sufferers were diagnosed and treated.[29] ### Laos[edit] Main article: HIV/AIDS in Laos In 2005, UNAIDS estimated that 3,700 people in Lao PDR were living with HIV.[30] Lao PDR currently faces a concentrated epidemic with an adult HIV prevalence of 0.1%. ### Malaysia[edit] Main article: HIV/AIDS in Malaysia On World AIDS Day in June 2008, Malaysia reported 82,704 cumulative HIV cases since 1986.[31] ### Myanmar[edit] Main article: HIV/AIDS in Myanmar In 2005, the estimated adult HIV prevalence rate in Myanmar was 1.3% (200,000–570,000 people) according to UNAIDS, and early indicators show that the epidemic may be waning in the country, although the epidemic continues to expand in parts of the country.[32][33][34] An estimated 20,000 (range between 11,000 and 35,000) die from HIV/AIDS annually.[35] ### Philippines[edit] Main article: HIV/AIDS in the Philippines The Philippines has a relatively low incidence of HIV/AIDS. There have been about 2,800 reported cases since 1984, but independent estimates put the number of cases closer to 12,000.[36][37] The majority (70–75%) of carriers are male, 25–39, and the predominant mode of transmission is through sexual intercourse. Although the national incidence rate remains relatively low, an independent HIV surveillance study conducted in 2010 by Dr. Louie Mar Gangcuangco and colleagues from the University of the Philippines-Philippine General Hospital showed that out of 406 men having sex with men tested for HIV in Metro Manila, HIV prevalence was at 11.8% (95% confidence interval: 8.7–15.0).[38][39] ### Singapore[edit] The Ministry of Health maintains a confidential registry of HIV positive individuals. The private details of 8,800 foreigners and 5,400 Singaporeans infected with HIV were exposed as a result of improper handling of the data.[40] The details of some 5,400 Singaporeans and permanent residents diagnosed with HIV up to January 2013, and 8,800 foreigners diagnosed up to December 2011 were leaked, by Mikhy Farrera-Brochez a US citizen.[41] It was in retaliation for Farrera-Brochez being deported from Singapore for falsify documents that granted him work privileges in Singapore and for covering up the fact he has HIV on an application form.[42] He was supplied the details by his, then boyfriend, Ler Teck Siang, a doctor in Singapore. Ler also provided his own blood sample to cover up Farrera-Brochez's HIV status.[42] ### Thailand[edit] Main article: HIV/AIDS in Thailand Around 532,522 Thais were living with HIV/AIDS in 2008.[43] ### Vietnam[edit] Main article: HIV/AIDS in Vietnam The UN estimated that there were 290,000 people living with HIV as of 2008.[44] ## West Asia[edit] ### Armenia[edit] Main article: HIV/AIDS in Armenia ### Azerbaijan[edit] Main article: HIV/AIDS in Azerbaijan The Adult prevalence rate was less than 0.2% in 2012, with an estimated 10,400 people living with HIV/AIDS and 65 deaths. ### Bahrain[edit] Main article: HIV/AIDS in Bahrain The Adult prevalence rate was estimated at 0.01% in 2016, with fewer than 500 people with HIV/AIDS and fewer than 100 deaths. ### Iran[edit] Main article: HIV/AIDS in Iran ### Iraq[edit] Main article: HIV/AIDS in Iraq ### Jordan[edit] Main article: HIV/AIDS in Jordan In 2007, there were an estimated 380,000 people living with HIV/AIDS (PLWHA) in the region, according to UNAIDS. ### Saudi Arabia[edit] Main article: HIV/AIDS in Saudi Arabia In 2003, the government announced the number of known cases of HIV/AIDS in the country to be 6,700, and over 10,000 in June 2008.[45] ### Turkey[edit] Main article: HIV/AIDS in Turkey According to the United Nations HIV/AIDS Theme Group's 2002 HIV/AIDS Situation Analysis report in Turkey, 7,000–14,000 people had been infected with AIDS since the beginning of the pandemic. The Ministry of Health in June 2002 stated that 1,429 HIV/AIDS cases had been reported since 1985.[46] ### United Arab Emirates[edit] Main article: HIV/AIDS in United Arab Emirates Official figures show that 540 people were living with HIV/AIDS by the end of 2006, and the number of recorded new cases was about 35 annually.[citation needed] ## See also[edit] * AIDS pandemic * HIV/AIDS in Africa * HIV/AIDS in Europe * HIV/AIDS in North America * HIV/AIDS in South America ## References[edit] 1. ^ "Archived copy". Archived from the original on 2010-07-02. Retrieved 2010-10-21.CS1 maint: archived copy as title (link) 2. ^ "AIDSinfo". UNAIDS. Retrieved 4 March 2013. 3. ^ a b Cite error: The named reference `Factbook` was invoked but never defined (see the help page). 4. ^ Children at risk of contracting HIV/AIDS in Afghanistan. December 1, 2008. 5. ^ "Over 1,300 HIV cases registered in Afghanistan". Pajhwok Afghan News. December 1, 2012. Retrieved 2012-12-02. 6. ^ a b "Health Profile: Bangladesh" Archived 17 August 2008 at the Wayback Machine. United States Agency for International Development (March 2008). Accessed 25 August 2008. This article incorporates text from this source, which is in the public domain. 7. ^ "The Ministry of Health has Detected…". Bhutan Observer online. 2011-08-01. Retrieved 2011-11-21. 8. ^ "An Update on Human Immuno Deficiency Virus/Acquired Immuno Deficiency Syndrome (HIV/AIDS)" (PDF). Bhutan Ministry of Health. 2010-07-01. Archived from the original (PDF) on 2012-05-08. Retrieved 2011-11-22. 9. ^ "Archived copy" (PDF). Archived from the original (PDF) on 20 October 2011. Retrieved 15 July 2013.CS1 maint: archived copy as title (link) 10. ^ "Country comparison: people living with HIV/AIDS". The World Factbook—Central Intelligence Agency. Retrieved 2 December 2019. 11. ^ "Country comparison AIDS/HIV prevalence". The World Factbook—Central Intelligence Agency. Retrieved 2 December 2019. 12. ^ [1] 13. ^ Cite error: The named reference `UNAIDS` was invoked but never defined (see the help page). 14. ^ "Country Factsheets: Pakistan - 2018". Joint United Nations Programme on HIV/AIDS (UNAIDS). Retrieved 2020-04-24. 15. ^ "National AIDS Control Programme". Retrieved 2020-04-24. 16. ^ "Country Factsheets: Pakistan - 2018". Joint United Nations Programme on HIV/AIDS (UNAIDS). Retrieved 2020-04-24. 17. ^ "IASR 37(9)、2016【TOPIC】HIV/AIDS in Japan, 2015". www.niid.go.jp. Retrieved 2020-05-06. 18. ^ "2006 Report on the global AIDS epidemic : A UNAIDS 10th anniversary special edition" (PDF). UNAIDS. 2006. p. 343. Archived from the original (PDF) on 2015-12-08. Retrieved 7 December 2015. 19. ^ "Young People and HIV/AIDS : Fact Sheet : DPR Korea" (PDF). Regional Office for South East Asia, World Health Organization. 20 November 2006. Archived from the original (PDF) on 8 December 2015. Retrieved 7 December 2015. 20. ^ O'Byrne, Tom (2 December 2001). "North Korea fights AIDS". ABC Radio National. Retrieved 2015-12-08. 21. ^ "KaiserNetwork: Korea cases". Archived from the original on June 23, 2009. 22. ^ a b Oh, Myoung-don (December 1999). "Spectrum of Opportunistic Infections and Malignancies in Patients with Human Immunodeficiency Virus Infection in South Korea". Clinical Infectious Diseases. 29 (6): 1524–1528. doi:10.1086/313516. JSTOR 4482066. PMID 10585807. 23. ^ a b Lee, Jin-Hee (December 2009). "Increasing Late Diagnosis in Hiv Infection in South Korea: 2000-2007". BMC Public Health. 10: 411. doi:10.1186/1471-2458-10-411. PMC 2912814. PMID 20624319. 24. ^ Lee, Jin-Hee (September 2009). "Epidemiological Characteristics of HIV-Infected Women in the Republic of Korea: A Low HIV Prevalence Country". Journal of Public Health Policy. 30 (3): 342–355. doi:10.1057/jphp.2009.16. JSTOR 40542225. PMID 19806074. S2CID 23893168. 25. ^ a b Cheng, Sealing (2004). "Interrogating the Absence of HIV/AIDS Interventions for Migrant Sex Workers in South Korea". Health and Human Rights. 7 (2): 193–204. doi:10.2307/4065354. JSTOR 4065354. 26. ^ "HIV月報105-03(更新)" (PDF). Centers for Disease Control, R.O.C (Taiwan). Retrieved 2 May 2016. 27. ^ Cite error: The named reference `us` was invoked but never defined (see the help page). 28. ^ "U.S., INDONESIA PARTNERSHIP TO FIGHT HIV/AIDS CONTINUES". US Fed News Service, Including US State News. 2009-12-07. ProQuest 471598082. 29. ^ a b "FIVE MILLION HIV/AIDS CASES IN INDONESIA BY 2010". Antara. 2009-11-15. ProQuest 446446798. 30. ^ "Laos: HIV/AIDS Health Profile" Archived 2008-11-15 at the Wayback Machine. USAID (March 2008). This article incorporates text from this source, which is in the public domain. 31. ^ "SinChew - MySinchew". www.sinchew.com.my. 32. ^ "At a glance: Myanmar - statistics". UNICEF. Retrieved 9 January 2007. 33. ^ "A scaled-up response to AIDS in Asia and the Pacific" (PDF). UNAIDS. 1 July 2005. Archived from the original (PDF) on 23 February 2007. Retrieved 10 January 2007. 34. ^ "Asia" (PDF). UNAIDS. December 2006. Archived from the original (PDF) on 16 January 2007. Retrieved 9 January 2007. 35. ^ "Myanmar: Epidemiological Fact Sheets" (PDF). UNAIDS. 2004. Retrieved 10 January 2007. 36. ^ HIV and AIDS in Philippines,HIV in Philippines,AIDS in Philippines,social Indicators,social statistics, HIV Estimates,Figures,HIV situation in Philippines Archived 2008-05-10 at the Wayback Machine 37. ^ "RP HIV/AIDS situation alarming; undocumented cases at 11,000 - solon". GMA News Online. 38. ^ Gangcuangco, et al. Prevalence and risk factors for HIV infection among men having sex with men in Metro Manila, Philippines. "Archived copy" (PDF). Archived from the original (PDF) on 2013-10-14. Retrieved 2015-04-05.CS1 maint: archived copy as title (link) 39. ^ "Archived copy". Archived from the original on 2013-10-04. Retrieved 2013-10-02.CS1 maint: archived copy as title (link) 40. ^ "Data of 14,200 people with HIV leaked online by American fraudster:MOH". The Business Times. January 28, 2019. 41. ^ hermesauto (2019-01-28). "Data of 14,200 with HIV leaked online: What you need to know about the case". The Straits Times. Retrieved 2020-09-15. 42. ^ a b hermesauto (2020-09-15). "Trial begins for Ler Teck Siang, doctor involved in HIV data leak, for not providing urine sample for drug offences". The Straits Times. Retrieved 2020-09-15. 43. ^ "More teenaged girls getting HIV infection". Archived from the original on November 26, 2014. 44. ^ "Archived copy". Archived from the original on 2010-07-03. Retrieved 2010-10-21.CS1 maint: archived copy as title (link) 45. ^ Hassan M. Fattah (August 8, 2006). "Saudi Arabia Begins to Face Hidden AIDS Problem". New York Times. 46. ^ UNICEFF Türkiye. "Evet Deyin: Kış 2003 AIDS'i Anlamak". UNICEFF Türkiye. 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template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	HIV/AIDS in Asia	None	30,401	wikipedia	https://en.wikipedia.org/wiki/HIV/AIDS_in_Asia	2021-01-18T18:55:35	{"wikidata": ["Q5629818"]}
For a general phenotypic description and a discussion of primary congenital glaucoma (PCG), see GLC3A (231300). Mapping Sarfarazi et al. (1995) mapped a locus for primary congenital glaucoma (designated GLC3A; 231300) to 2p21. Six of 17 families, however, failed to show linkage to the 2p21 region. Akarsu et al. (1996) studied 8 families with primary congenital glaucoma unlinked to chromosome 2p21 to search for the chromosomal location of a second GLC3 locus. They mapped the GLC3B locus to chromosome 1p36.2-p36.1 in a region situated centromeric to the neuroblastoma (256700) and Charcot-Marie-Tooth type 2A (118210) loci. Akarsu et al. (1996) reported that 4 of the families showed linkage to 1p36.2-1p36.1; the maximum 2-point lod score was 4.510 with the marker D1S2834. Pairwise and multipoint linkage analysis and haplotype inspection revealed that, in the remaining 4 families, GLC3 was not linked to this region of chromosome 1. Further linkage analysis in the families studied by Akarsu et al. (1996) provided information on the map order of loci in the 1p36.2-36.1 region. Eyes \- Primary congenital glaucoma. Inheritance \- Autosomal recessive. ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	GLAUCOMA 3, PRIMARY INFANTILE, B	c0020302	30,402	omim	https://www.omim.org/entry/600975	2019-09-22T16:15:36	{"mesh": ["D006871"], "omim": ["600975"], "orphanet": ["98976"], "synonyms": ["Alternative titles", "GLAUCOMA, PRIMARY CONGENITAL, TYPE B", "GLC3, TYPE B"], "genereviews": ["NBK1135"]}
Not to be confused with Desensitization (psychology). Hypoesthesia Other namesNumbness, hypesthesia SpecialtyPsychiatry, Neurology Hypoesthesia or numbness is a common side effect of various medical conditions which manifests as a reduced sense of touch or sensation, or a partial loss of sensitivity to sensory stimuli. In everyday speech this is generally referred to as numbness.[1] Hypoesthesia primarily results from damage to nerves, and from blockages in blood vessels, resulting in ischemic damage to tissues supplied by the blocked blood vessels. This damage is detectable through the use of various imaging studies. Damage in this way is caused by a variety of different illnesses and diseases. A few examples of the most common illnesses and diseases that can cause hypoesthesia as a side effect are as follows: * Decompression sickness * Trigeminal schwannoma * Rhombencephalitis * Intradural extramedullary tuberculoma of the spinal cord * Cutaneous sensory disorder * Beriberi Treatment of hypoethesia are aimed at targeting the more broad disease or illnesses that has caused the side effect of sensation loss.[1][2][3][4] ## Contents * 1 Diagnosis * 2 Diseases * 2.1 Decompression sickness * 2.2 Trigeminal schwannoma * 2.3 Rhombencephalitis * 2.4 Intradural extramedullary tuberculoma of the spinal cord (IETSC) * 2.5 Cutaneous sensory disorder * 2.6 Beriberi * 3 See also * 4 References ## Diagnosis[edit] A patient experiencing symptoms of hypoesthesia is often asked a series of questions to pinpoint the location and severity of the sensory disruption. A physical examination may follow where a doctor may tap lightly on the skin to determine how much feeling is present. Depending upon the location of the symptoms occurring, a doctor may recommend some tests to determine the overlying cause of the hypoesthesia. These tests include imaging computerized axial tomography (CT) and magnetic resonance imaging (MRI) scans, nerve conduction studies to measure electrical impulses passing through the nerves in search of damage to the nerves, and various reflex tests.[2] An example of a reflex test would be the patellar reflex test.[citation needed] ## Diseases[edit] ### Decompression sickness[edit] Decompression sickness occurs during rapid ascent, spanning 20 or more feet (typically from underwater). Decompression sickness may express itself in a variety of ways, including hypoesthesia. Hypoesthesia results because of air bubbles that form in blood, which prevents oxygenation of downstream tissue.[2] In cases of decompression sickness, treatment to relieve hypoesthesia symptoms is quick and efficient. Hyperbaric oxygen is used to maintain long term stability which includes breathing of oxygen at a level of 100%.[2] ### Trigeminal schwannoma[edit] Cell morphology observed in all nerve root schwannomas Trigeminal schwannoma is a condition in which a tumor forms on the trigeminal nerve (also known as cranial nerve five).[1] This prevents sensation in the area associated with the nerve. In the case of the trigeminal nerve, this is the face, meaning hypoesthesia of the face is experienced. Excision is the only effective treatment of trigeminal schwannoma, though this may not treat the associated hypoesthesia if damage has already occurred. Following surgery, many patients still experienced hypoesthesia and even some experienced increased effects.[1] ### Rhombencephalitis[edit] Rhombencephalitis involves bacterial invasion of the brainstem and trigeminal nerve, and has a wide variety of symptoms that may vary between patients.[3] Similarly to the trigeminal schwanonoma mentioned above, this can result in facial hypoesthesia. Rhombencephalitis may also result in hypoesthesia of the V1 through V3 dermatomes.[3] The main treatment option for this infection is antibiotics,[4] such as ampicillin, to remove the bacteria. ### Intradural extramedullary tuberculoma of the spinal cord (IETSC)[edit] IETSC is a cancer of the spinal cord that involves hypoesthesia of all parts of the body associated with the affected spinal nerves.[5] The inability to convey information from the body to the central nervous system will cause a total lack of feeling in the associated regions.[citation needed] ### Cutaneous sensory disorder[edit] Hypoesthesia is one of the negative sensory symptoms associated with cutaneous sensory disorder (CSD). In this condition, patients have abnormal disagreeable skin sensations that can be due to increased nervous system activity (stinging, itching or burning) or decreased nervous system activity (numbness or hypoesthesia).[6] ### Beriberi[edit] Hypoesthesia originating in (and extending centrally from) the feet, fingers, navel, and/or lips is one of the common symptoms of beriberi,[7] which is a set of symptoms caused by thiamine deficiency. ## See also[edit] * Anaphia * Dysesthesia * Hyperesthesia * Paresthesia * Raynaud syndrome ## References[edit] 1. ^ a b c d Chen, Li-Feng; Yang, Yang; Yu, Xin-Guang; Gui, Qiu-Ping; Bu, Bo; Xu, Bai-Nan; Zhou, Ding-Biao (June 2014). "Operative management of trigeminal neuromas: an analysis of a surgical experience with 55 cases". Acta Neurochirurgica. 156 (6): 1105–1114. doi:10.1007/s00701-014-2051-7. ISSN 0942-0940. PMID 24633987. 2. ^ a b c d Moon, R. E. (March 2014). "Hyperbaric oxygen treatment for decompression sickness". Undersea & Hyperbaric Medicine. 41 (2): 151–157. ISSN 1066-2936. PMID 24851553. 3. ^ a b c Karlsson, William K.; Harboe, Zitta Barrella; Roed, Casper; Monrad, Jeppe B.; Lindelof, Mette; Larsen, Vibeke Andrée; Kondziella, Daniel (September 2017). "Early trigeminal nerve involvement in Listeria monocytogenes rhombencephalitis: case series and systematic review". Journal of Neurology. 264 (9): 1875–1884. doi:10.1007/s00415-017-8572-2. ISSN 1432-1459. PMID 28730571. 4. ^ a b Stylianos, Kapetanakis; Konstantinos, Giatroudakis; Pavlos, Pavlidis; Aliki, Fiska (July 2016). "Brachial branches of the medial antebrachial cutaneous nerve: A case report with its clinical significance and a short review of the literature". Journal of Neurosciences in Rural Practice. 7 (3): 443–446. doi:10.4103/0976-3147.182772. PMC 4898116. PMID 27365965. 5. ^ Roca, Bernardino (June 2005). "Intradural extramedullary tuberculoma of the spinal cord: a review of reported cases". The Journal of Infection. 50 (5): 425–431. doi:10.1016/j.jinf.2004.07.012. ISSN 0163-4453. PMID 15907551. 6. ^ Gupta, M. A.; Gupta, A. K. (2013). "Cutaneous sensory disorder". Seminars in Cutaneous Medicine and Surgery. 32 (2): 110–8. PMID 24049969. 7. ^ Brooks, Henry Turner (1912). Text-book of General and Special Pathology for Students and Practitioners. F. A. Davis Company. p. 582. "beriberi hypesthesia." Wikimedia Commons has media related to Hypoesthesia. * v * t * e Symptoms and signs relating to skin and subcutaneous tissue Disturbances of skin sensation * Hypoesthesia * Paresthesia * Formication * Hyperesthesia * Hypoalgesia * Hyperalgesia Circulation * Cyanosis * Pallor * Livedo * Livedo reticularis * Flushing * Petechia * Blanching Edema * Peripheral edema * Anasarca Other * Rash * Desquamation * Induration * Diaphoresis * Mass * Neck mass Skin * Asboe-Hansen sign * Auspitz's sign * Borsari's sign * Braverman's sign * Crowe sign * Dennie–Morgan fold * Darier's sign * Fitzpatrick's sign * Florid cutaneous papillomatosis * Gottron's sign * Hutchinson's sign * Janeway lesion * Kerr's sign * Koebner's phenomenon * Koplik's spots * Leser-Trelat sign * Nikolsky's sign * Pastia's sign * Russell's sign * Wickham striae * Wolf's isotopic response * Munro's microabscess Nails * Aldrich-Mees' lines * Beau's lines * Muehrcke's lines * Terry's nails [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Hypoesthesia	c0020580	30,403	wikipedia	https://en.wikipedia.org/wiki/Hypoesthesia	2021-01-18T18:40:57	{"mesh": ["D006987"], "umls": ["C0020580"], "icd-9": ["782.0"], "icd-10": ["R20.1"], "wikidata": ["Q1641556"]}
Metaplastic carcinoma, otherwise known as metaplastic carcinoma of the breast (MCB), is a heterogeneous group of cancers that exhibit varied patterns of metaplasia and differentiation along multiple cell lines. This rare and aggressive form of breast cancer is characterized as being composed of a mixed group of neoplasms containing both glandular and non-glandular patterns with epithelial and/or mesenchymal components. It accounts for fewer than 1% of all breast cancer diagnoses.[1] It is most closely associated with invasive ductal carcinoma of no special type. (IDC), and shares similar treatment approaches.[2] Relative to IDC, MCB generally has higher histological grade and larger tumor size at time of diagnosis, with a lower incidence of axillary lymph node involvement. MCB tumors are typically estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor-2 (HER-2) negative, meaning hormone therapy is generally not an effective treatment option, which correlates to a relatively poor prognosis. MCB was first recognized as a distinct pathological entity in 2000 by the World Health Organization.[1] ## Contents * 1 Classification * 2 Risk Factors * 3 Signs & Symptoms * 4 Diagnosis * 5 Prognosis * 6 Treatment * 7 References * 8 External links ## Classification[edit] Owing to its relatively recent pathological distinction, multiple classification systems have been adopted for MCB among different organizations and research groups. The World Health Organization classifies MCB under two categories: Epithelial-type and mixed-type. The epithelial-type is further classified as squamous cell carcinoma, adenocarcinoma with spindle cell differentiation, and adenosquamous carcinoma. The mixed-type is further classified as carcinoma with chondroid metaplasia, carcinoma with osseous metaplasia, and carcinosarcoma. Wargotz et al. proposed a classification system for MCB according to its cytopathological features. These classifications are spindle cell, squamous cells, matrix-producing, carcinosarcoma, and MCB with osteoclastic giant cell. Another research group, Oberman et al., proposed a classification system consisting of spindle cell carcinoma, invasive ductal carcinoma with extensive squamous metaplasia, and invasive ductal carcinoma with pseudosarcomatous metaplasia. The lack of consensus between these various classification systems for MCB has led to complications in both clinical practice and research studies.[1] ## Risk Factors[edit] In most MCB cases, patients are women over the age of 50, indicating that age is a major factor in determining the risk of developing MCB. Genetics are another primary risk factor for developing MCB. Genetic mutations and family history both correlate to higher risk.[3] ## Signs & Symptoms[edit] The most common presenting symptom of MCB is a rapidly growing, palpable mass of the breast. If the tumor has metastasized, more severe symptoms will be presented, depending on the site of metastasis.[3] ## Diagnosis[edit] Mammography is a standard diagnostic tool for MCB, where the tumors will typically display as a high-density mass. However, they can also mimic IDCs as well as benign lesions in the mammogram. Sonography is also often used to help diagnose MCB, where solid and cystic components may be observed. This is related to necrosis and cystic degeneration. In Fine-needle aspiration (FNA) smears, only 57% of cases show ductal carcinoma and metaplastic components. Consequently, roughly half of MCB tumors cannot be diagnosed by FNA. Pathologic tissue diagnosis is therefore essential to distinguish MCB from other breast cancers in order to institute proper and prompt treatment. This is achieved using immunohistochemistry with a cytokeratin panel to distinguish such cases from phyllodes tumors, primary sarcomas, and fibromatoses.[3] ## Prognosis[edit] The prognosis of MCB can vary between different sub-classifications, which, given the heterogeneity of classification systems, makes assigning prognoses difficult. However, the prognosis for MCB is generally poor. Predictors associated with worse prognosis of MCB include age younger than 39 years at presentation, tumor invasion of the skin, and squamous cell carcinoma spread to the lymph nodes. The 5-year survival rate for MCB varies by classification, and ranges from 49% in the most deadly classifications to 64%.[3] ## Treatment[edit] Despite the range of classifications of MCB, treatment options are standard with other breast cancers. If the tumor is diagnosed early, breast-saving surgery could be an option, although this is relatively uncommon. In non-metastatic MCB, the most common treatment is mastectomy. If the tumor is metastatic, surgery is no longer a viable option, and treatment generally defaults to aggressive chemotherapy. Because MCB tumors are typically triple-negative, hormone therapy is not usually an option for treatment. This is directly related to its relatively poor prognosis.[3] ## References[edit] 1. ^ a b c Böler DE, Kara H, Sağlıcan Y, Tokat F, Uras C (2016-08-01). "Metaplastic carcinoma of the breast: A case series and review of the literature". Journal of Oncological Sciences. 2 (2–3): 38–42. doi:10.1016/j.jons.2016.08.006. 2. ^ "Metaplastic Breast Cancer". Johns Hopkins Medicine. Johns Hopkins University. 2015-04-22. Retrieved 2015-04-22. 3. ^ a b c d e Luini A, Aguilar M, Gatti G, Fasani R, Botteri E, Brito JA, Maisonneuve P, Vento AR, Viale G (2017-03-01). "Metaplastic carcinoma of the breast, an unusual disease with worse prognosis: the experience of the European Institute of Oncology and review of the literature". Breast Cancer Research and Treatment. 101 (3): 349–353. ## External links[edit] * Metaplastic carcinoma entry in the public domain NCI Dictionary of Cancer Terms This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms". [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Metaplastic carcinoma	c1266089	30,404	wikipedia	https://en.wikipedia.org/wiki/Metaplastic_carcinoma	2021-01-18T18:59:35	{"umls": ["C1266089"], "wikidata": ["Q6823150"]}
Salivary gland cancer is a rare disease in which cancerous cells form in the tissues of the salivary glands. The salivary glands make saliva and release it into the mouth. Saliva has enzymes that help to digest food and antibodies that help protect against infections of the mouth and throat. There are 3 pairs of major salivary glands: the parotid glands, the sublingual glands, and the submandibular glands. The National Cancer Institute provides a picture of the anatomy of the salivary glands. Some risk factors for salivary gland cancer are older age, exposure to radiation of the head and/or neck area, and family history. Signs and symptoms of the disease may include: a lump near the ear, cheek, jaw, lip, or inside of the mouth; trouble swallowing; fluid draining from the ear; numbness or weakness in the face; and on-going pain in the face. Different types of treatment are available for patients with salivary gland cancer. Some treatments are standard (currently used by physicians) and some are being tested in clinical trials (by researchers). It is suggested that patients with salivary gland cancer have their treatment planned and managed by a team of doctors who are experts in treating head and neck cancer. Although treatment depends on the stage of the cancer, typically the following three treatments are used: (1) surgery, (2) radiation therapy, and (3) chemotherapy. [1] [2] [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Salivary gland cancer, adult	None	30,405	gard	https://rarediseases.info.nih.gov/diseases/9377/salivary-gland-cancer-adult	2021-01-18T17:57:50	{"synonyms": []}
A number sign (#) is used with this entry because this form of autosomal recessive osteogenesis imperfecta (OI8) is caused by homozygous or compound heterozygous mutation in the LEPRE1 gene (P3H3; 610339) on chromosome 1p32. Description Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses. Clinical Features Cabral et al. (2007) described 5 patients with a lethal/severe osteogenesis imperfecta-like bone dysplasia caused by mutation in the LEPRE1 gene. The phenotype of the probands overlapped Sillence lethal type II/severe type III osteogenesis imperfecta (see 166210 and 259440), with severe osteoporosis, shortened long bones, and a soft skull with wide open fontanel. However, in contrast to the classic blue sclerae, triangular face, and narrow thorax of severe and lethal osteogenesis imperfecta, their probands had white sclerae, a round face, and a short barrel-shaped chest. Prenatal radiographs demonstrated gracile, undermineralized ribs and long bones. Multiple fractures were present at birth. Long bone radiographs of surviving probands showed bulbous metaphyses and apparent matrix disorganization. Their hands appeared relatively long compared to their forearms, with long phalanges, short metacarpals, and disorganized matrix. Vertebral compression fractures occurred in 2 of the surviving probands by 14 months and 5 years of age, respectively. Their bone density was lower than almost all individuals with severe osteogenesis imperfecta. Four probands, including the 3 lethal cases, were African, African American, or Afro-Caribbean. The fifth proband was Pakistani. The parents of proband 1 denied consanguinity and had a previous affected child who died in Africa; the parents of proband 2 had a second affected child. Molecular Genetics By linkage studies, Wallis et al. (1993) excluded the COL1A1 and COL1A2 (120160) loci as the site of the mutation in this form of osteogenesis imperfecta; the combined lod scores were -10.6 for COL1A1 and -11.2 for COL1A2. Furthermore, they examined the type I procollagen produced by skin fibroblast cultures derived from 15 affected and 12 unaffected subjects from the 8 families studied by linkage plus 1 further family; no evidence for defects in the synthesis, structure, secretion, or posttranslational modification of the chains of type I procollagen was found. Prolyl 3-hydroxylase 1 (P3H1), the product of the LEPRE1 gene, hydroxylates a single proline, pro986 of the collagen type I alpha-1 chain (COL1A1; 120150) and forms a complex with cartilage-associated protein (CRTAP; 605497) and cyclophilin B (123841). Because the enzymatic activity in the 3-hydroxylation complex resides in P3H1, Cabral et al. (2007) postulated that its absence would result in severe bone dysplasia. They screened individuals with lethal/severe osteogenesis imperfecta-like bone dysplasia and overmodified collagen but without a type I collagen mutation detected by complete cDNA sequencing of both collagen chains. Real-time RT-PCR of total fibroblast RNA identified 5 individuals, 3 with lethal and 2 with severe bone dysplasia, whose LEPRE1 mRNA was 5 to 21% that of normal controls. All 5 individuals carried LEPRE1 mutations on both alleles (610339.0001-610339.0004). A common mutant allele was found in the African and African American probands (610339.0001). Willaert et al. (2009) screened the LEPRE1, CRTAP, and PPIB (123841) genes in 20 severe/lethal OI patients who were negative for mutation in type I collagen genes, and identified 4 homozygous and compound heterozygous mutations in the LEPRE1 gene in 4 probands, respectively (610339.0005-610339.0007). No mutations were found in CRTAP or PPIB. Two of the patients were relatively long-lived (alive at 17 years and 8 years of age, respectively). The authors noted that although at birth, clinical and radiologic features of these patients were virtually indistinguishable from those of patients with autosomal dominant severe/lethal OI, follow-up evaluation revealed the development of a severe osteochondrodysplasia with distinctive features, including complete disappearance of the honeycomb-type trabecular agglomeration, extreme osteoporosis, and additional widening of the rhizomelic diaphyses, accompanied by progressive narrowing and bowing of the mesomelic diaphysis, with reduction of the knee joint spaces to a mere line between the femora and tibiae. Population Genetics To determined the carrier frequency of the LEPRE1 (1080+1G-T) mutation, Cabral et al. (2012) screened genomic DNA African American and African cohorts. Among 3,055 African Americans from the Mid-Atlantic United States tested, 12 carriers were identified for a frequency of 0.39% (1 in 255). Among Ghanaians, 9 carriers were found among 453 individuals for a frequency of 1.99% (1 in 50). Among Nigerians, 10 of 818 were carriers (1.22%, 1 in 182). Among total West Africans, 19 of 1,284 were carriers (1.48%, 1 in 68). The mutation was not detected in Africa outside of West Africa. Among 12 unrelated West African families with 16 independent mutant alleles, Cabral et al. (2012) identified a conserved haplotype surrounding the LEPRE1 gene extending from between D1S2861 to the region between markers STR3 and STR5. Using linkage disequilibrium analysis, Cabral et al. (2012) estimated the mutation to have originated 650 and 900 years before the present (1100 to 1350 CE). Nomenclature Cabral et al. (2007) suggested that defects in LEPRE1 resulting in a lethal to severe recessive bone dysplasia that is characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses should be classified as type VIII osteogenesis imperfecta. INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature, disproportionate \- Dwarfism, short-limbed HEAD & NECK Head \- Wide open anterior fontanelle \- Soft skull \- Open sutures Face \- Round face Eyes \- White sclerae \- Proptosis Teeth \- No dentinogenesis imperfecta CHEST External Features \- Short, barrel-shaped chest Ribs Sternum Clavicles & Scapulae \- Thin ribs SKELETAL \- Bone fragility \- Severe osteopenia \- Normal bone age \- Multiple fractures, present at birth \- Joint laxity Skull \- Poorly ossified skull \- Wormian bones Spine \- Platyspondyly \- Scoliosis \- Kyphosis \- Vertebral compression fractures Limbs \- Thin, gracile long bones \- Radial bowing \- Femoral bowing \- Tibial bowing \- Bulbous metaphyses \- Externally rotated/abducted legs Hands \- Long phalanges \- Short metacarpals NEUROLOGIC Central Nervous System \- Delayed development LABORATORY ABNORMALITIES \- Type 1 collagen overmodification \- Absent-decreased prolyl 3-hydroxylation at collagen I alpha-1 pro986 MOLECULAR BASIS \- Caused by mutation in the leucine- and proline-enriched proteoglycan 1 gene (LEPRE1, 610339.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	OSTEOGENESIS IMPERFECTA, TYPE VIII	c0268362	30,406	omim	https://www.omim.org/entry/610915	2019-09-22T16:03:55	{"doid": ["0110336"], "mesh": ["C536044"], "omim": ["610915"], "orphanet": ["216812", "216804", "666"], "synonyms": ["Alternative titles", "OI, TYPE VIII"]}
Muscular dystrophy In affected muscle (right), the tissue has become disorganized and the concentration of dystrophin (green) is greatly reduced, compared to normal muscle (left). SpecialtyPediatrics, medical genetics SymptomsIncreasing weakening, breakdown of skeletal muscles, trouble walking[1][2] DurationLong term[1] Types> 30 including Duchenne muscular dystrophy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, myotonic dystrophy[1][2] CausesGenetic (X-linked recessive, autosomal recessive, or autosomal dominant)[2] Diagnostic methodBlood tests, genetic testing[2] TreatmentPhysical therapy, braces, corrective surgery, assisted ventilation[1][2] PrognosisDepends on the type[1] Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time.[1] The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin.[1] Many people will eventually become unable to walk.[2] Some types are also associated with problems in other organs.[2] The muscular dystrophy group contains thirty different genetic disorders that are usually classified into nine main categories or types.[1][2] The most common type is Duchenne muscular dystrophy (DMD), which typically affects males beginning around the age of four.[1] Other types include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and myotonic dystrophy.[1] They are due to mutations in genes that are involved in making muscle proteins.[2] This can occur due to either inheriting the defect from one's parents or the mutation occurring during early development.[2] Disorders may be X-linked recessive, autosomal recessive, or autosomal dominant.[2] Diagnosis often involves blood tests and genetic testing.[2] There is no cure for muscular dystrophy.[1] Physical therapy, braces, and corrective surgery may help with some symptoms.[1] Assisted ventilation may be required in those with weakness of breathing muscles.[2] Medications used include steroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants to delay damage to dying muscle cells.[1] Outcomes depend on the specific type of disorder.[1] Duchenne muscular dystrophy, which represents about half of all cases of muscular dystrophy, affects about one in 5,000 males at birth.[2] Muscular dystrophy was first described in the 1830s by Charles Bell.[2] The word "dystrophy" is from the Greek dys, meaning "difficult" and troph meaning "nourish".[2] Gene therapy, as a treatment, is in the early stages of study in humans.[2] ## Contents * 1 Signs and symptoms * 2 Cause * 3 Diagnosis * 3.1 Classification * 4 Management * 5 Prognosis * 6 History * 7 Research * 8 See also * 9 References * 10 Further reading * 11 External links ## Signs and symptoms[edit] The signs and symptoms consistent with muscular dystrophy are:[3] * Progressive muscular wasting * Poor balance * Scoliosis (curvature of the spine and the back) * Progressive inability to walk * Waddling gait * Calf deformation * Limited range of movement * Respiratory difficulty * Cardiomyopathy * Muscle spasms * Gowers' sign ## Cause[edit] Dystrophin These conditions are generally inherited, and the different muscular dystrophies follow various inheritance patterns. Muscular dystrophy can be inherited by individuals as an X-linked disorder, a recessive or dominant disorder. Furthermore, it can be a spontaneous mutation which means errors in the replication of DNA and spontaneous lesions. Spontaneous lesions are due to natural damage to DNA, where the most common are depurination and deamination.[4][5] Dystrophin protein is found in muscle fiber membrane; its helical nature allows it to act like a spring or shock absorber. Dystrophin links actin in the cytoskeleton and dystroglycans of the muscle cell plasma membrane, known as the sarcolemma (extracellular). In addition to mechanical stabilization, dystrophin also regulates calcium levels.[6][7] The gene for dystrophin is located on the X chromosome. In males, the lone X chromosome has only one dystrophin gene. If there's a mutation in that gene, a male's muscles will lack dystrophin and slowly degenerate; mutations in the gene for dystrophin were identified as the cause of DMD by MDA researchers in 1986. A female almost always has two dystrophin genes, one on each X chromosome, and, even if one of these isn't working, the other gene suffices to keep dystrophin levels high enough to preserve muscle function in both the heart and skeletal muscles. Nevertheless, research has shown that a small minority of females having both a working and a non-working dystrophin gene can exhibit symptoms of DMD.[citation needed] Recent studies on the interaction of proteins with missense mutations and its neighbors showed high degree of rigidity associated with central hub proteins involved in protein binding and flexible subnetworks having molecular functions involved with calcium.[8] ## Diagnosis[edit] The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.[9] Other tests that can be done are chest X-ray, echocardiogram, CT scan, and magnetic resonance image scan, which via a magnetic field can produce images whose detail helps diagnose muscular dystrophy.[10] Quality of life can be measured using specific questionnaires.[11] ### Classification[edit] Disorder name OMIM Gene Description Becker muscular dystrophy 300376 DMD Becker muscular dystrophy (BMD) is a less severe variant of Duchenne muscular dystrophy and is caused by the production of a truncated, but partially functional form of dystrophin.[12] Survival is usually into old age and affects only boys (with extremely rare exceptions)[13] Congenital muscular dystrophy Multiple Multiple Hydrocephalus Age at onset is birth, the symptoms include general muscle weakness and possible joint deformities, disease progresses slowly, and lifespan is shortened. Congenital muscular dystrophy includes several disorders with a range of symptoms. Muscle degeneration may be mild or severe. Problems may be restricted to skeletal muscle, or muscle degeneration may be paired with effects on the brain and other organ systems.[14] Several forms of the congenital muscular dystrophies are caused by defects in proteins thought to have some relationship to the dystrophin-glycoprotein complex and to the connections between muscle cells and their surrounding cellular structure. Some forms of congenital muscular dystrophy show severe brain malformations, such as lissencephaly and hydrocephalus.[12] Duchenne muscular dystrophy 310200 DMD Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy; it generally affects only boys (with extremely rare exceptions), becoming clinically evident when a child begins walking. By age 10, the child may need braces for walking and by age 12, most patients are unable to walk.[15] Lifespans range from 15 to 45, though a few exceptions occur.[15] Researchers have identified the gene for the protein dystrophin, which, when absent, causes DMD.[16] Since the gene is on the X chromosome, this disorder affects primarily males, and females who are carriers have milder symptoms. Sporadic mutations in this gene occur frequently.[17] Dystrophin is part of a complex structure involving several other protein components. The "dystrophin-glycoprotein complex" helps anchor the structural skeleton (cytoskeleton) within the muscle cells, through the outer membrane (sarcolemma) of each cell, to the tissue framework (extracellular matrix) that surrounds each cell. Due to defects in this assembly, contraction of the muscle leads to disruption of the outer membrane of the muscle cells and eventual weakening and wasting of the muscle.[12] Distal muscular dystrophy 254130 DYSF Distal muscular dystrophies' age at onset is about 20 to 60 years; symptoms include weakness and wasting of muscles of the hands, forearms, and lower legs; progress is slow and not life-threatening.[18] Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of limb-girdle muscular dystrophy.[12] Emery–Dreifuss muscular dystrophy 310300, 181350 EMD, LMNA Emery–Dreifuss muscular dystrophy patients normally present in childhood and the early teenaged years with contractures. Clinical signs include muscle weakness and wasting, starting in the distal limb muscles and progressing to involve the limb-girdle muscles. Most patients also suffer from cardiac conduction defects and arrhythmias.[19][20] The three subtypes of Emery–Dreifuss MD are distinguishable by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. The X-linked form is the most common. Each type varies in prevalence and symptoms. The disease is caused by mutations in the LMNA gene, or more commonly, the EMD gene. Both genes encode for protein components of the nuclear envelope. However, how these mutations cause the pathogenesis is not well understood.[21] Facioscapulohumeral muscular dystrophy 158900 DUX4 Play media Timelapse expression of DUX4 protein in FSHD cells Facioscapulohumeral muscular dystrophy (FSHD) causes progressive weakness, initially in the muscles of the face, shoulders, and upper arms. Additional muscles are often affected.[22] Symptoms usually manifest in adolescence.[12] Affected individuals can become severely disabled, with 20% requiring a wheel chair by age 50.[23] The pattern of inheritance is autosomal dominant for the most common subtype (FSHD1); 30% of cases involve spontaneous mutations.[23] Penetrance and severity seem to be lower in females compared to males.[23][24] The cause is derepression of DUX4, which requires two mutations: one mutation causing demethylation of the DUX4 region, allowing DUX4 transcription, and another mutation forming a polyadenylation sequence downstream of DUX4, allowing stability to DUX4 messenger RNA and increased likelihood of translation.[23][25] Limb-girdle muscular dystrophy Multiple Multiple Limb-girdle muscular dystrophy (LGMD) affects both boys and girls.[26] LGMDs all show a similar distribution of muscle weakness, affecting both upper arms and legs. Many forms of LGMD have been identified, showing different patterns of inheritance (autosomal recessive vs. autosomal dominant). In an autosomal recessive pattern of inheritance, an individual receives two copies of the defective gene, one from each parent. The recessive LGMDs are more frequent than the dominant forms, and usually have childhood or teenaged onset. The dominant LGMDs usually show adult onset. Some of the recessive forms have been associated with defects in proteins that make up the dystrophin-glycoprotein complex.[12] Though a person normally leads a normal life with some assistance, in some extreme cases, death from LGMD occurs due to cardiopulmonary complications.[27] Myotonic muscular dystrophy 160900, 602668 DMPK, ZNF9 Myotonic muscular dystrophy is an autosomal dominant condition that presents with myotonia (delayed relaxation of muscles), as well as muscle wasting and weakness.[28] Myotonic MD varies in severity and manifestations and affects many body systems in addition to skeletal muscles, including the heart, endocrine organs, and eyes.[29] Myotonic MD type 1 (DM1) is the most common adult form of muscular dystrophy. It results from the expansion of a short (CTG) repeat in the DNA sequence of the myotonic dystrophy protein kinase gene. Myotonic muscular dystrophy type 2 (DM2) is rarer and is a result of the expansion of the CCTG repeat in the zinc finger protein 9 gene.[12] Oculopharyngeal muscular dystrophy 164300 PABPN1 Oculopharyngeal MD's age at onset is 40 to 70 years; symptoms affect muscles of eyelids, face, and throat followed by pelvic and shoulder muscle weakness; it has been attributed to a short repeat expansion in the genome which regulates the translation of some genes into functional proteins.[12] ## Management[edit] Ankle foot orthosis Currently, there is no cure for muscular dystrophy. In terms of management, physical therapy, occupational therapy, orthotic intervention (e.g., ankle-foot orthosis),[30][31] speech therapy, and respiratory therapy may be helpful.[30] Low intensity corticosteroids such as prednisone, and deflazacort may help to maintain muscle tone.[32] Orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases.[2] The cardiac problems that occur with EDMD and myotonic muscular dystrophy may require a pacemaker.[33] The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine.[34] Occupational therapy assists the individual with MD to engage in activities of daily living (such as self-feeding and self-care activities) and leisure activities at the most independent level possible. This may be achieved with use of adaptive equipment or the use of energy-conservation techniques. Occupational therapy may implement changes to a person's environment, both at home or work, to increase the individual's function and accessibility; furthermore, it addresses psychosocial changes and cognitive decline which may accompany MD, and provides support and education about the disease to the family and individual.[35] ## Prognosis[edit] Prognosis depends on the individual form of MD. In some cases, a person with a muscle disease will get progressively weaker to the extent that it shortens lifespan due to heart and breathing complications. However, some of the muscle diseases do not affect life expectancy at all, and ongoing research is attempting to find cures and treatments to slow muscle weakness.[2] ## History[edit] In the 1860s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals. In the following decade,[36] French neurologist Guillaume Duchenne gave a comprehensive account of the most common and severe form of the disease, which now carries his name—Duchenne MD.[37] ## Research[edit] WHO International conducted trials on optimum steroid regimen for MD, in the UK in 2012.[38] In terms of research within the United States, the primary federally funded organizations that focus on muscular dystrophy research, including gene therapy and regenerative medicine, are the National Institute of Neurological Disorders and Stroke, National Institute of Arthritis and Musculoskeletal and Skin Diseases, and National Institute of Child Health and Human Development.[12] In 1966, the Muscular Dystrophy Association began its annual Jerry Lewis MDA Telethon, which has probably done more to raise awareness of muscular dystrophy than any other event or initiative. Disability rights advocates, however, have criticized the telethon for portraying victims of the disease as deserving pity rather than respect.[39] On December 18, 2001, the MD CARE Act was signed into law in the USA; it amends the Public Health Service Act to provide research for the various muscular dystrophies. This law also established the Muscular Dystrophy Coordinating Committee to help focus research efforts through a coherent research strategy.[40][41] ## See also[edit] * Emery–Dreifuss muscular dystrophy * Fukuyama congenital muscular dystrophy * Muscle hypertrophy * Muscular Dystrophy UK * Muscular Dystrophy Association (United States) * Muscular Dystrophy Canada * Muscular Dystrophy Family Foundation ## References[edit] 1. ^ a b c d e f g h i j k l m n "NINDS Muscular Dystrophy Information Page". NINDS. March 4, 2016. Archived from the original on 30 July 2016. Retrieved 12 September 2016. 2. ^ a b c d e f g h i j k l m n o p q r s "Muscular Dystrophy: Hope Through Research". NINDS. March 4, 2016. Archived from the original on 30 September 2016. Retrieved 12 September 2016. 3. ^ Muscular Dystrophy Clinical Presentation at eMedicine 4. ^ Choices, NHS. "Muscular dystrophy - Causes - NHS Choices". www.nhs.uk. Archived from the original on 2016-04-02. Retrieved 2016-04-10. 5. ^ Griffiths, Anthony JF; Miller, Jeffrey H.; Suzuki, David T.; Lewontin, Richard C.; Gelbart, William M. (2000). Spontaneous mutations.[page needed] 6. ^ "DMD gene". Genetics Home Reference. 2016-03-28. Archived from the original on 2016-04-16. Retrieved 2016-04-10. 7. ^ Lapidos, Karen A.; Kakkar, Rahul; McNally, Elizabeth M. (30 April 2004). "The Dystrophin Glycoprotein Complex". Circulation Research. 94 (8): 1023–1031. doi:10.1161/01.RES.0000126574.61061.25. PMID 15117830. 8. ^ Sharma, Ankush (2014). "Publication:Rigidity and flexibility in protein-protein interaction networks: a case study on neuromuscular disorders". www.openaire.eu. Archived from the original on 22 April 2016. Retrieved 10 April 2016. 9. ^ "NIH /How is muscular dystrophy diagnosed?". NIH.gov. NIH. 2015. Archived from the original on 7 April 2016. Retrieved 10 April 2016. 10. ^ "Diagnosis Muscular Dystrophy". NHS Choices. NHS.uk. 2015. Archived from the original on 19 April 2016. Retrieved 10 April 2016. 11. ^ Dany, Antoine; Barbe, Coralie; Rapin, Amandine; Réveillère, Christian; Hardouin, Jean-Benoit; Morrone, Isabella; Wolak-Thierry, Aurore; Dramé, Moustapha; Calmus, Arnaud; Sacconi, Sabrina; Bassez, Guillaume; Tiffreau, Vincent; Richard, Isabelle; Gallais, Benjamin; Prigent, Hélène; Taiar, Redha; Jolly, Damien; Novella, Jean-Luc; Boyer, François Constant (4 July 2015). "Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease". Quality of Life Research. 24 (11): 2615–2623. doi:10.1007/s11136-015-1013-8. PMID 26141500. S2CID 25834947. 12. ^ a b c d e f g h i May 2006 report to Congress Archived 2014-04-05 at the Wayback Machine on Implementation of the MD CARE Act, as submitted by Department of Health and Human Service's National Institutes of Health 13. ^ "Becker muscular dystrophy: MedlinePlus Medical Encyclopedia". medlineplus.gov. Archived from the original on 15 March 2017. Retrieved 14 March 2017. 14. ^ Congenital Muscular Dystrophy~clinical at eMedicine 15. ^ a b "Duchenne muscular dystrophy: MedlinePlus Medical Encyclopedia". medlineplus.gov. Archived from the original on 2017-04-05. Retrieved 2017-03-14. 16. ^ "Duchenne and Becker muscular dystrophy - Genetics Home Reference". Ghr.nlm.nih.gov. 2017-03-07. Archived from the original on 2017-03-24. Retrieved 2017-03-14. 17. ^ "Duchenne Muscular Dystrophy. What is muscular dystrophy? \| Patient". Patient.info. 2016-04-15. Archived from the original on 2016-12-02. Retrieved 2017-03-14. 18. ^ Udd, Bjarne (2011). "Distal muscular dystrophies". Handbook of Clinical Neurology. 101. pp. 239–62. doi:10.1016/B978-0-08-045031-5.00016-5. ISBN 978-0-08-045031-5. PMID 21496636. 19. ^ "OMIM Entry - # 310300 - EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1". Omim.org. Archived from the original on 2017-03-10. Retrieved 2017-03-14. 20. ^ "Emery-Dreifuss muscular dystrophy - Genetics Home Reference". Ghr.nlm.nih.gov. 2017-03-07. Archived from the original on 2017-03-12. Retrieved 2017-03-14. 21. ^ Emery–Dreifuss Muscular Dystrophy at eMedicine 22. ^ "facioscapulohumeral muscular dystrophy - Genetics Home Reference". Ghr.nlm.nih.gov. Archived from the original on 2017-03-24. Retrieved 2017-03-14. 23. ^ a b c d Statland, JM; Tawil, R (December 2016). "Facioscapulohumeral Muscular Dystrophy". Continuum (Minneapolis, Minn.). 22 (6, Muscle and Neuromuscular Junction Disorders): 1916–1931. doi:10.1212/CON.0000000000000399. PMC 5898965. PMID 27922500. 24. ^ "Facioscapulohumeral muscular dystrophy: MedlinePlus Medical Encyclopedia". Nlm.nih.gov. 2017-03-09. Archived from the original on 2016-07-04. Retrieved 2017-03-14. 25. ^ Rosenberg, Roger N.; Pascual, Juan M. (2014-10-28). Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. p. 1174. ISBN 978-0124105492. Archived from the original on 2017-03-15. Retrieved 2017-03-14. 26. ^ Pegoraro, E; Hoffman, EP; Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Stephens, K; Amemiya, A (2012). "Limb-Girdle Muscular Dystrophy Overview". PMID 20301582. Cite journal requires `\|journal=` (help) 27. ^ Jenkins, Simon P.R. (2005). Sports Science Handbook:I - Z. Brentwood, Essex: Multi-Science Publ. Co. p. 121. ISBN 978-0906522-37-0. 28. ^ Turner, C.; Hilton-Jones, D. (2010). "The myotonic dystrophies: diagnosis and management" (PDF). Journal of Neurology, Neurosurgery & Psychiatry. 81 (4): 358–67. doi:10.1136/jnnp.2008.158261. PMID 20176601. S2CID 2453622. 29. ^ "Myotonic Dystrophy Type 1". Myotonic Dystrophy Type 1 - GeneReviews® - NCBI Bookshelf. Ncbi.nlm.nih.gov. University of Washington, Seattle. 1993. Archived from the original on 2017-01-18. Retrieved 2017-03-14. 30. ^ a b "What are the treatments for muscular dystrophy?". NIH.gov. NIH. 2015. Archived from the original on 7 April 2016. Retrieved 10 April 2016. 31. ^ "Muscular Dystrophy-OrthoInfo - AAOS". orthoinfo.aaos.org. Archived from the original on 2016-04-12. Retrieved 2016-04-10. 32. ^ McAdam, Laura C.; Mayo, Amanda L.; Alman, Benjamin A.; Biggar, W. Douglas (2012). "The Canadian experience with long term deflazacort treatment in Duchenne muscular dystrophy". Acta Myologica. 31 (1): 16–20. PMC 3440807. PMID 22655512. 33. ^ Verhaert, David; Richards, Kathryn; Rafael-Fortney, Jill A.; Raman, Subha V. (January 2011). "Cardiac Involvement in Patients With Muscular Dystrophies". Circulation: Cardiovascular Imaging. 4 (1): 67–76. doi:10.1161/CIRCIMAGING.110.960740. PMC 3057042. PMID 21245364. 34. ^ Eddy, Linda L. (2013). Caring for Children with Special Healthcare Needs and Their Families: A Handbook for Healthcare Professionals. John Wiley & Sons. ISBN 978-1-118-51797-0.[page needed] 35. ^ Lehman, R. M.; McCormack, G. L. (2001). "Neurogenic and Myopathic Dysfunction". In Pedretti, Lorraine Williams; Early, Mary Beth (eds.). Occupational Therapy: Practice Skills for Physical Dysfunction (5th ed.). Mosby. pp. 802–3. ISBN 978-0-323-00765-8. 36. ^ Laing, Nigel G; Davis, Mark R; Bayley, Klair; Fletcher, Sue; Wilton, Steve D (2011). "Molecular Diagnosis of Duchenne Muscular Dystrophy: Past, Present and Future in Relation to Implementing Therapies". The Clinical Biochemist Reviews. 32 (3): 129–134. PMC 3157948. PMID 21912442. 37. ^ "Muscular Dystrophy: Hope Through Research". National Institute of Neurological Disorders and Stroke. 23 March 2020. Retrieved 7 April 2020. 38. ^ Choices, N. H. S. (2011-11-09). "Muscular Dystrophy - Clinical trial details - NHS Choices". Archived from the original on 2016-04-21. Retrieved 2016-04-10. 39. ^ Berman, Ari (2011-09-02). "The End of the Jerry Lewis Telethon—It's About Time". The Nation. Retrieved 2017-03-14. 40. ^ H.R. 717--107th Congress (2001) Archived 2012-02-19 at the Wayback Machine: MD-CARE Act, GovTrack.us (database of federal legislation), (accessed Jul 29, 2007) 41. ^ Public Law 107-84 Archived 2012-11-07 at the Wayback Machine, PDF as retrieved from NIH website ## Further reading[edit] * De Los Angeles Beytía, Maria; Vry, Julia; Kirschner, Janbernd (2012). "Drug treatment of Duchenne musculardystrophy: available evidence and perspectives". Acta Myologica. 31 (1): 4–8. PMC 3440798. PMID 22655510. * Bertini, Enrico; D'Amico, Adele; Gualandi, Francesca; Petrini, Stefania (December 2011). "Congenital Muscular Dystrophies: A Brief Review". Seminars in Pediatric Neurology. 18 (4): 277–288. doi:10.1016/j.spen.2011.10.010. PMC 3332154. PMID 22172424. ## External links[edit] * Muscular dystrophies at Curlie Classification D * ICD-10: G71.0 * ICD-9-CM: 359.0-359.1 * MeSH: D009136 External resources * MedlinePlus: 001190 * eMedicine: orthoped/418 Scholia has a topic profile for Muscular dystrophy. * v * t * e Muscular dystrophy Types * Congenital * Dystrophinopathy * Becker's * Duchenne * Distal * Emery-Dreifuss * Facioscapulohumeral * Limb-girdle muscular dystrophy * Calpainopathy * Myotonic * Oculopharyngeal National/International Organizations * Muscular Dystrophy Association (USA) * Muscular Dystrophy Canada * Myotonic Dystrophy Foundation * Muskelsvindfonden (Denmark) National/International Events * MDA Muscle Walk (USA) * Labor Day Telethon (defunct; USA/Canada) * Décrypthon (France) * Grøn Koncert (Denmark) Clinical trials * Stamulumab (MYO-029) Category * v * t * e Diseases of muscle, neuromuscular junction, and neuromuscular disease Neuromuscular- junction disease * autoimmune * Myasthenia gravis * Lambert–Eaton myasthenic syndrome * Neuromyotonia Myopathy Muscular dystrophy (DAPC) AD * Limb-girdle muscular dystrophy 1 * Oculopharyngeal * Facioscapulohumeral * Myotonic * Distal (most) AR * Calpainopathy * Limb-girdle muscular dystrophy 2 * Congenital * Fukuyama * Ullrich * Walker–Warburg XR * dystrophin * Becker's * Duchenne * Emery–Dreifuss Other structural * collagen disease * Bethlem myopathy * PTP disease * X-linked MTM * adaptor protein disease * BIN1-linked centronuclear myopathy * cytoskeleton disease * Nemaline myopathy * Zaspopathy Channelopathy Myotonia * Myotonia congenita * Thomsen disease * Neuromyotonia/Isaacs syndrome * Paramyotonia congenita Periodic paralysis * Hypokalemic * Thyrotoxic * Hyperkalemic Other * Central core disease Mitochondrial myopathy * MELAS * MERRF * KSS * PEO General * Inflammatory myopathy * Congenital myopathy Authority control * NARA: 10643733 * NDL: 00571063 [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Muscular dystrophy	c0026850	30,407	wikipedia	https://en.wikipedia.org/wiki/Muscular_dystrophy	2021-01-18T18:59:43	{"gard": ["7922"], "mesh": ["D009136"], "umls": ["C0026850", "C1864711"], "orphanet": ["98473"], "wikidata": ["Q1137767"]}
A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. ## Epidemiology The prevalence is unknown but less than 100 patients have been reported in the literature so far. ## Clinical description The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Renal tubular dysfunction ranges from isolated renal tubular acidosis to complete Fanconi syndrome (polyuria, aminoaciduria, glycosuria, phosphaturia and bicarbonate wasting). Hepatic anomalies include variable combinations of cholestasis, intrahepatic biliary duct hypoplasia and lipofuscin deposition. Additional features include severe failure to thrive, platelet dysfunction (which may be responsible for severe bleeding), facial dysmorphism (low set ears, lax skin, a high arched palate, beaked nose and small anterior fontanelle), diarrhea, recurrent febrile illness, cerebral malformations and sensorineural deafness. ## Etiology Mutations in the VPS33B gene (15q26.1), involved in intracellular protein trafficking and membrane fusion, have been found in 75% of ARC families, as well as mutations in the VIPAR gene (C14ORF133), encoding a protein that complexes with VPS33B. ## Differential diagnosis The differential diagnosis should include progressive familial intrahepatic cholestasis disorders, other forms of arthrogryposis multiplex congenita and congenital ichthyosiform dermatoses (see these terms). ## Genetic counseling The syndrome is generally considered to be transmitted as an autosomal recessive trait. ## Management and treatment There is no specific treatment for the disease. ## Prognosis Most patients die within the first year of life despite supportive care for metabolic acidosis and cholestasis and those surviving longer show cirrhosis and severe developmental delay. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Arthrogryposis-renal dysfunction-cholestasis syndrome	c1859722	30,408	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2697	2021-01-23T17:20:19	{"gard": ["794"], "mesh": ["C535382"], "omim": ["208085", "613404"], "umls": ["C1859722"], "icd-10": ["Q89.7"], "synonyms": ["ARC syndrome"]}
Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Distal trisomy 6q	c0795817	30,409	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96098	2021-01-23T18:15:12	{"mesh": ["C537810"], "umls": ["C0795817"], "icd-10": ["Q92.3"], "synonyms": ["Distal duplication 6q", "Telomeric duplication 6q", "Trisomy 6qter"]}
A rare multisystem genetic disorder characterized by cutaneous lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. ## Epidemiology Exact prevalence and incidence rates for Noonan syndrome with multiple lentigines (NSML) are not known. About 300 cases have been described to date. A slight male predominance has been reported. ## Clinical description Patients with NSML have a characteristic facial appearance including a broad forehead, hypertelorism, ptosis, down-slanting palpebral fissures, a high-arched palate, and low-set posteriorly rotated ears. Pectus deformity is common. Multiple lentigines, presenting as flat, black-brown macules, are located mainly on the face, neck, and upper trunk, sparing the mucosa, and constitute a hallmark feature of the syndrome. Lentigines appear at 4 to 5 years of age and increase in number until puberty. Café-au-lait spots may also be observed alone or along with lentigines. About one quarter of patients show growth delay with short stature in adulthood. Cardiac defects include ECG (electrocardiogram) anomalies, pulmonary valve stenosis, progressive conduction defects and hypertrophic cardiomyopathy, and are found in about 50% of patients. Some affected individuals have abnormal genitalia: unilateral or bilateral cryptorchidism and hypospadias in about one third of affected males; urinary tract defects and, less commonly, ovarian abnormalities. Sensorineural hearing loss is a less common feature (20%). Intellectual disability is generally mild and affects about 30% of cases. NSML can be associated with the development of neuroblastoma, acute myeloid leukemia, and acute lymphoblastic leukemia. ## Etiology NSML is mainly caused by mutations in the PTPN11 gene (12q24.1). Mutations are different from those known to cause Noonan syndrome, explaining the distinct clinical phenotype. Some cases are reported to involve mutations in RAF1 (3p25) , BRAF (7q34), or MAP2K1 (15q22.1-q22.33; one patient). There may be other currently unidentified causative genes. ## Diagnostic methods Clinical diagnosis may be difficult because of the absence of characteristic lentigines. Patients may have an initial diagnosis of Noonan syndrome. Molecular genetic testing may be useful to confirm diagnosis or to distinguish between overlapping syndromes. ## Differential diagnosis The clinical presentation overlaps significantly with Noonan syndrome and the main distinguishing manifestation is multiple lentigines. Other differential diagnoses include cardio-facio-cutaneous, Costello, and Turner syndromes. ## Antenatal diagnosis Prenatal diagnosis is possible if a causative gene mutation has been identified in an affected family member. ## Genetic counseling NSML follows an autosomal dominant pattern of inheritance. The proportion of de novo mutations is unknown. Genetic counseling should be provided to affected families informing them that there is a 50% risk of transmission from an affected individual to their offspring. ## Management and treatment Isolated lentigines may be treated with cryosurgery or laser treatment. Treatment of lentigines may also include tretinoin and hydroquinone creams. Treatment of cardiovascular manifestations follows standard methods and periodic cardiac monitoring is recommended. Cryptorchidism in affected males is also treated with conventional techniques. Hearing loss may require hearing aids, educational support, or cochlear implantation. ## Prognosis Life expectancy is normal in most affected patients, with the exception of patients with severe hypertrophic cardiomyopathy. The prognosis is mainly related to the severity of cardiac manifestations. * European Reference Network [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Noonan syndrome with multiple lentigines	c0175704	30,410	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=500	2021-01-23T18:49:44	{"gard": ["1100"], "mesh": ["C537116", "D044542"], "omim": ["151100", "611554", "613707"], "umls": ["C0175704", "C2931424"], "icd-10": ["Q87.1"], "synonyms": ["Cardiomyopathic lentiginosis", "Familial multiple lentigines syndrome", "LEOPARD syndrome"]}
Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell them apart. Some researchers believe they represent a single disorder with a range of signs and symptoms. Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss. ## Frequency Weissenbacher-Zweymüller syndrome is very rare; only a few affected families worldwide have been described in the medical literature. ## Causes Weissenbacher-Zweymüller syndrome is caused by mutations in the COL11A2 gene. This gene provides instructions for making one component of type XI collagen, which is a complex molecule that gives structure and strength to the connective tissues that support the body's joints and organs. Type XI collagen is found in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type XI collagen is also part of the inner ear and the nucleus pulposus, which is the center portion of the discs between vertebrae. At least one mutation in the COL11A2 gene can cause Weissenbacher-Zweymüller syndrome. This mutation disrupts the assembly of type XI collagen molecules. The defective collagen weakens connective tissues in many parts of the body, including the long bones, spine, and inner ears, which impairs bone development and underlies the other signs and symptoms of this condition. It is not well understood why "catch-up" bone growth occurs in childhood. ### Learn more about the gene associated with Weissenbacher-Zweymüller syndrome * COL11A2 ## Inheritance Pattern This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of this condition result from a new (de novo) mutation in the gene that occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Weissenbacher-Zweymüller syndrome	c1848488	30,411	medlineplus	https://medlineplus.gov/genetics/condition/weissenbacher-zweymuller-syndrome/	2021-01-27T08:24:49	{"gard": ["4351"], "mesh": ["C535776"], "omim": ["184840"], "synonyms": []}
Lobular carcinoma Micrograph of lobular carcinoma. H&E stain. Lobular carcinoma is a form of tumor which primarily affects the lobules of a gland. It is sometimes considered equivalent to "terminal duct carcinoma".[1] If not otherwise specified, it generally refers to breast cancer. Examples include: * Lobular carcinoma in situ * Invasive lobular carcinoma ## References[edit] 1. ^ "lobular carcinoma" at Dorland's Medical Dictionary ## External links[edit] Classification D * ICD-O: 8520 * MeSH: D018275 * v * t * e Glandular and epithelial cancer Epithelium Papilloma/carcinoma * Small-cell carcinoma * Combined small-cell carcinoma * Verrucous carcinoma * Squamous cell carcinoma * Basal-cell carcinoma * Transitional cell carcinoma * Inverted papilloma Complex epithelial * Warthin's tumor * Thymoma * Bartholin gland carcinoma Glands Adenomas/ adenocarcinomas Gastrointestinal * tract: Linitis plastica * Familial adenomatous polyposis * pancreas * Insulinoma * Glucagonoma * Gastrinoma * VIPoma * Somatostatinoma * Cholangiocarcinoma * Klatskin tumor * Hepatocellular adenoma/Hepatocellular carcinoma Urogenital * Renal cell carcinoma * Endometrioid tumor * Renal oncocytoma Endocrine * Prolactinoma * Multiple endocrine neoplasia * Adrenocortical adenoma/Adrenocortical carcinoma * Hürthle cell Other/multiple * Neuroendocrine tumor * Carcinoid * Adenoid cystic carcinoma * Oncocytoma * Clear-cell adenocarcinoma * Apudoma * Cylindroma * Papillary hidradenoma Adnexal and skin appendage * sweat gland * Hidrocystoma * Syringoma * Syringocystadenoma papilliferum Cystic, mucinous, and serous Cystic general * Cystadenoma/Cystadenocarcinoma Mucinous * Signet ring cell carcinoma * Krukenberg tumor * Mucinous cystadenoma / Mucinous cystadenocarcinoma * Pseudomyxoma peritonei * Mucoepidermoid carcinoma Serous * Ovarian serous cystadenoma / Pancreatic serous cystadenoma / Serous cystadenocarcinoma / Papillary serous cystadenocarcinoma Ductal, lobular, and medullary Ductal carcinoma * Mammary ductal carcinoma * Pancreatic ductal carcinoma * Comedocarcinoma * Paget's disease of the breast / Extramammary Paget's disease Lobular carcinoma * Lobular carcinoma in situ * Invasive lobular carcinoma Medullary carcinoma * Medullary carcinoma of the breast * Medullary thyroid cancer Acinar cell * Acinic cell carcinoma This article about a neoplasm is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Lobular carcinoma	c0206692	30,412	wikipedia	https://en.wikipedia.org/wiki/Lobular_carcinoma	2021-01-18T18:45:01	{"mesh": ["D018275"], "wikidata": ["Q6663895"]}
A number sign (#) is used with this entry because C4A deficiency is caused by mutation in the C4A gene (120810). Clinical Features Partial deficiency of C4 was found in 3 persons during a screening of 42,000 healthy Japanese (Torisu et al., 1970). Of 26 patients with autoimmune chronic active hepatitis beginning in childhood, Vergani et al. (1985) found low C4 in 18 (69%) and low C3 serum levels in 5 (19%). Associated characteristics indicated a defect in synthesis of C4 and a genetic basis thereof was indicated by the fact that C4 phenotyping in 20 patients and in 26 parents showed that 90% and 81%, respectively, had null allotypes at either the C4A or C4B (120820) locus compared with 59% in controls. Homozygous deficiency of C4A is associated with systemic lupus erythematosus (152700) and with type I diabetes mellitus; homozygous deficiency of C4B is associated with susceptibility to bacterial meningitis (Winkelstein, 1987). Huang et al. (1995) found a strong association between C4A deletion and systemic lupus erythematosus in 14 multiplex SLE families. Lhotta et al. (1990) stated that only 17 cases of complete deficiency of C4 had been described. They described a patient with complete deficiency and renal disease, first presenting as severe Henoch-Schonlein purpura with renal involvement at the age of 17. Six years later, he developed hypertension and nephrotic syndrome, requiring hemodialysis followed by cadaveric kidney graft. After 2 years of uncomplicated course, the patient suffered a recurrence of his primary disease in the grafted kidney. Molecular Genetics Awdeh et al. (1981) analyzed C4 types in relatives of a C4-deficient proband and provided evidence that the deficiency results from homozygosity for a rare, double-null haplotype. The family contained persons with 1, 2, 3, or 4 expressed C4 genes, and the mean serum C4 levels roughly reflected the number of structural genes present. To evaluate the molecular basis of the C4-null phenotypes, Partanen et al. (1988) used Southern blotting techniques to analyze genomic DNA from 23 patients with systemic lupus erythematosus (SLE; 152700) and from healthy controls. They confirmed the earlier findings of high frequencies of C4-null phenotypes and of HLA-B8,DR3 antigens. In addition, they found that among the patients most of both the C4A- and C4B-null phenotypes resulted from gene deletions. Among the controls, only the C4A-null phenotypes were predominantly the result of gene deletions. In all SLE cases, the C4 gene deletions extended also to a closely linked pseudogene, CYP21A (613815). Altogether, 52% of the patients and 26% of the controls carried a C4/CYP21A deletion. Partanen et al. (1989) found that deletions in 6p involving the C4 and CYP21 loci fell within the range of 30 to 38 kb, as determined by pulsed-field gel electrophoresis. Because the deletion sizes in most other gene clusters were more heterogeneous, the results suggested to Partanen et al. (1989) the involvement of a specific mechanism in the generation of C4/CYP21 deletions. In a 9-year-old girl with SLE and complete C4 deficiency, Welch et al. (1990) found uniparental isodisomy 6. The girl had 2 identical chromosome 6 haplotypes from the father and none from the mother. In a study of the molecular basis of C4 null alleles, Braun et al. (1990) found evidence for defective genes at the C4A locus and for gene conversion at the C4B locus as demonstrated by the presence of C4A-specific sequences. To characterize further the molecular basis of these nonexpressed C4A genes, Barba et al. (1993) selected 9 pairs of PCR primers from flanking genomic intron sequences to amplify all 41 exons from individuals with a defective C4A gene. The amplified products were subjected to single-strand conformation polymorphism (SSCP) analysis to detect possible mutations. PCR products exhibiting a variation in the SSCP pattern were sequenced directly. In 10 of 12 individuals, a 2-bp insertion in exon 29 (120810.0001), leading to nonexpression due to creation of a termination codon, was detected. The insertion was linked to the haplotype HLA-B60-DR6 in 7 cases. In 1 of the other 2 individuals without this mutation, evidence was obtained for gene conversion to the C4B isotype. They suggested that the insertion was due to slipped mispairing mediated by a direct repeat or run of identical bases since the original sequence of the insertion site CTC was changed to CTCTC by addition of a CT or a TC dinucleotide. Since the reading frame was shifted, a complete change in the amino acid sequence resulted, followed by a termination codon at the beginning of exon 30. Boteva et al. (2012) genotyped 1,028 SLE cases, including 501 patients from the UK and 537 from Spain, and 1,179 controls for gene copy number (GCN) of total C4, C4A, C4B, and the 2-bp insertion SNP (C4AQ0; 120810.0001) resulting in a null allele. The loss-of-function SNP in C4A was not associated with SLE in either population. Boteva et al. (2012) used multiple logistic regression to determine the independence of C4 CNV from known SNP and HLA-DRB1 associations. Overall, the findings indicated that partial C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations. Although complete homozygous deficiency of complement C4 is one of the strongest genetic risk factors for SLE, partial C4 deficiency states do not independently predispose to the disease. Population Genetics Ranford et al. (1987) found an extraordinarily high frequency of C4 deficiency in the Australian aboriginal population of Darwin: 29% as compared with 12% in aborigines in Alice Springs and 17% in Canberra blood donors. Partial C4B deficiency was also higher in Darwin aborigines than in the other populations. INHERITANCE \- Autosomal recessive GENITOURINARY Kidneys \- Glomerulonephritis SKIN, NAILS, & HAIR Skin \- Photosensitive skin rashes IMMUNOLOGY \- Systemic lupus erythematosus \- Dermatomyositis \- Anaphylactoid purpura \- Vasculitis LABORATORY ABNORMALITIES \- Absent CH50 activity in complete C4 deficiency MISCELLANEOUS \- Two loci control synthesis of C4, C4A ( 120810 ) and C4B ( 120820 ) \- Patients with total C4 deficiency are homozygous for double null C4 haplotype \- Prevalence of homozygous c4A deficiency in SLE 10-15x higher than general population MOLECULAR BASIS \- Caused by mutation in the complement component 4A gene (C4A, 120810.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	COMPLEMENT COMPONENT 4A DEFICIENCY	c3280642	30,413	omim	https://www.omim.org/entry/614380	2019-09-22T15:55:27	{"doid": ["0060297"], "mesh": ["C565167"], "omim": ["614380"], "orphanet": ["169147"], "synonyms": ["Immunodeficiency due to C1, C4, or C2 component complement deficiency", "Alternative titles", "C4A DEFICIENCY", "Immunodeficiency due to an early component of complement deficiency"]}
Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Polydactyly-myopia syndrome	c1868117	30,414	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2917	2021-01-23T17:04:55	{"gard": ["4413"], "mesh": ["C536331"], "omim": ["174310"], "umls": ["C1868117"], "icd-10": ["Q87.2"], "synonyms": ["Czeizel-Brooser syndrome"]}
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Curry-Jones syndrome	c0795915	30,415	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1553	2021-01-23T16:58:01	{"gard": ["5584"], "mesh": ["C536735"], "omim": ["601707"], "icd-10": ["Q87.0"], "synonyms": ["Corpus callosum agenesis-polysyndactyly syndrome"]}
A rare head and neck tumor characterized by a firm infiltrative neoplasm with squamous differentiation, arising from the mucosal epithelium, and most commonly located in the tongue, floor of the mouth, or gingiva, but also the buccal mucosa or any other area of the oral cavity, depending on prevailing risk factors (such as smoking, alcohol consumption, and tobacco chewing). Patients present with a variably white, erythematous, mixed, nodular, or ulcerated lesion, which may cause discomfort, pain, or reduced mobility of the tongue. The tumor is aggressive with a propensity for local invasion and early lymph node metastasis. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Squamous cell carcinoma of the oral cavity	c1168401	30,416	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=502363	2021-01-23T16:56:55	{"mesh": ["D000077195"], "omim": ["275355"]}
Lee et al. (1977) described 2 brothers with cutaneous angiolipomas and retroperitoneal chemodectomas. Both died of malignant dissemination of the chemodectomas. Two other brothers died of tumors before age 45, and one of them also had skin lumps. Thus, they may have been affected also. See paragangliomata (168000). Oncology \- Cutaneous angiolipomas \- Retroperitoneal chemodectomas Inheritance \- Autosomal dominant ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	CHEMODECTOMA, INTRAABDOMINAL, WITH CUTANEOUS ANGIOLIPOMAS	c2930928	30,417	omim	https://www.omim.org/entry/118350	2019-09-22T16:43:22	{"mesh": ["C535552"], "omim": ["118350"]}
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome IV (OFD4) can be caused by homozygous or compound heterozygous mutation in the TCTN3 gene (613847) on chromosome 10q24. Mutation in TCTN3 can also cause a form of Joubert syndrome (JBTS18; 614815). Clinical Features Baraitser (1986) suggested the existence of a fourth type of orofaciodigital syndrome but recognized that considerable overlap of the features of the various forms gives rise to difficulties in precise clinical differentiation. The autosomal recessive mode of inheritance and the presence of severe tibial dysplasia differentiated type IV from type I (311200). Burn et al. (1984) described 2 sisters, the children of first-cousin Pakistani Moslem parents, who had unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Many of the features resembled those of the Majewski type of short rib-polydactyly syndrome (263520). Indeed, the older of the 2 sibs reported by Burn et al. (1984) had been reported as having either that syndrome (Cooper and Hall, 1982) or the Mohr-Majewski compound (Baraitser et al., 1983). Temtamy and McKusick (1978) had described a patient who they thought showed features of both syndromes. Nevin and Thomas (1989) reported a fifth patient with OFD IV. The clinical characteristics included lobulated tongue, pseudo-cleft of the lip, pre- and postaxial polydactyly of the hands and feet, severe talipes equinovarus, mesomelic limb shortness associated with tibial hypoplasia, and severe bilateral deafness. Nevin et al. (1992) added to the genetic understanding of this disorder by describing an affected second cousin of the patient reported by Nevin and Thomas (1989). Meinecke and Hayek (1990) described a severely affected infant. Ades et al. (1994) entertained a severe form of OFD IV as the diagnosis in a child of first-cousin Lebanese parents who was spontaneously delivered stillborn at 27 weeks' gestation. The fetus showed occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis with intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. Digilio et al. (1995) described a female patient with OFD IV who, in addition to typical manifestations of the syndrome, had previously undescribed malformations and deformations, including cerebral and renal anomalies, anal atresia, and dislocation of elbows and knees. They stated that this was the tenth reported patient. Toriello et al. (1997) described 6 children diagnosed as having OFD syndrome with tibial defects. They concluded that the patients probably had different conditions, although all had oral, facial, digital, and tibial defects. Thomas et al. (2012) examined a male fetus from a consanguineous Senegalese family; the pregnancy was terminated at 19 weeks due to brain anomalies, cystic kidneys, and severe skeletal dysplasia. He had facial dysmorphism with a lobulated tongue, polydactyly of all 4 limbs, severe cystic kidney disease, ductal plate proliferation in the liver, and occipital encephalocele. Neuropathologic assessment disclosed absent olfactory system, corpus callosum agenesis, and vermian hypoplasia. X-rays showed bowing of long bones with severe tibial hypoplasia. The acetabular margin had a trident appearance, but there were no short ribs. Thomas et al. (2012) concluded that the fetus fulfilled the diagnostic criteria for OFD4. Inheritance Consanguinity in several reported families segregating OFD IV (e.g., Burn et al., 1984; Ades et al., 1994) supported autosomal recessive inheritance. Molecular Genetics In a fetus from a consanguineous Senegalese family that fulfilled diagnostic criteria for OFD4, Thomas et al. (2012) performed genomewide homozygosity mapping and identified 14 regions of homozygosity. Targeted capture strategy combined with next-generation sequencing and filtering yielded a single nonsense mutation in the TCTN3 gene (E408X; 613847.0001) that was present in homozygosity in the fetus. Homozygosity mapping analysis in 18 additional cases presenting with lethal ciliopathies with various combinations of brain, renal, skeletal, and orofacial abnormalities and polydactyly revealed 6 with regions of homozygosity at the TCTN3 locus; direct sequencing of the TCTN3 gene identified 2 different homozygous truncating mutations in 3 of the fetuses (613847.0002 and 613847.0003). Sequencing of TCTN3 in an additional 82 nonconsanguineous fetal cases with a severe ciliopathy revealed compound heterozygosity for frameshift mutations in 2 affected French sibs (613847.0004-613847.0005). Thomas et al. (2012) noted that some of the affected fetuses did not display orofacial anomalies, thus confirming the variable phenotypic spectrum of OFD4. INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Face \- Micrognathia Ears \- Low-set ears Eyes \- Hypertelorism \- Epicanthal folds Mouth \- High-arched palate \- Cleft palate \- Lobulated tongue \- Tongue nodules \- Oral frenula CHEST External Features \- Pectus excavatum SKELETAL Limbs \- Short tibiae Hands \- Preaxial and/or postaxial polydactyly \- Brachydactyly \- Clinodactyly \- Syndactyly Feet \- Preaxial and/or postaxial polydactyly \- Syndactyly NEUROLOGIC Central Nervous System \- Cerebral atrophy \- Porencephaly MOLECULAR BASIS \- Caused by mutation in the tectonic family, member 3 gene (TCTN3, 613847.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	OROFACIODIGITAL SYNDROME IV	c0406727	30,418	omim	https://www.omim.org/entry/258860	2019-09-22T16:24:03	{"doid": ["0060374"], "mesh": ["C537133"], "omim": ["258860"], "orphanet": ["2753"], "synonyms": ["Alternative titles", "OFDS IV", "ORAL-FACIAL-DIGITAL SYNDROME, TYPE IV", "OFD SYNDROME WITH TIBIAL DEFECTS", "MOHR-MAJEWSKI SYNDROME", "OFD SYNDROME, BARAITSER-BURN TYPE", "BARAITSER-BURN SYNDROME"]}
A number sign (#) is used with this entry because inosine triphosphatase deficiency is caused by heterozygous, homozygous, or compound heterozygous mutation in the ITPA gene (147520) on chromosome 20p13. Description Inosine triphosphate pyrophosphohydrolase (ITPase) deficiency is a common inherited condition characterized by the abnormal accumulation of inosine triphosphate (ITP) in erythrocytes (Sumi et al., 2002). Clinical Features Vanderheiden (1969) found relatively high levels of inosine triphosphate in the red cells of 2 sibs and suggested that this resulted from deficiency of inosine triphosphatase activity. In a follow-up study, a high level of ITP was found in 7 of over 6,000 samples from mainly unrelated persons. Persons with very low enzyme levels were apparently homozygous. The enzyme is a cytosolic nucleoside triphosphate pyrophosphohydrolase specific for ITP (Vanderheiden, 1975). ITPase deficiency is not associated with any defined pathology other than the characteristic and abnormal accumulation of ITP in red blood cells. Nevertheless, ITPase deficiency may have pharmacogenomic implications, and the abnormal metabolism of 6-mercaptopurine in ITPase-deficient patients may lead to thiopurine drug toxicity (Fraser et al., 1975; Sumi et al., 2002). Greene (1986) stated that the Camden Cell Bank has lymphoblastoid cells and skin fibroblasts supplied by Vanderheiden from a 29-year-old woman (GM1619) with ITPase deficiency. The lymphoblastoid cells had only 20% normal ITPA activity after recovery from storage in liquid nitrogen. The possibility that ITP deficiency has some clinical significance, perhaps under conditions of stress, should be considered. Population Genetics The frequency of heterozygosity for ITPase deficiency in Caucasian populations is estimated to be 5 per 100 (Fraser et al., 1975; Sumi et al., 2002). Molecular Genetics Sumi et al. (2002) identified 2 mutations in the ITPA gene (147520.0001-147520.0002) associated with deficient ITPase enzyme activity. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	INOSINE TRIPHOSPHATASE DEFICIENCY	c0342800	30,419	omim	https://www.omim.org/entry/613850	2019-09-22T15:57:14	{"mesh": ["C564127"], "omim": ["613850"], "synonyms": ["Alternative titles", "INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY"]}
TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy). The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS lose motor skills such as standing, walking, eating, and talking. Some affected individuals have increasing weakness in the muscles that control eye movement, leading to droopy eyelids (progressive external ophthalmoplegia). Most often in TK2-MDS, the muscles are the only affected tissues; however, the liver may be enlarged (hepatomegaly), seizures can occur, and hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) may be present. Intelligence is usually not affected. As the disorder worsens, the muscles that control breathing become weakened and affected individuals frequently have to rely on mechanical ventilation. Respiratory failure is the most common cause of death in people with TK2-MDS, often occurring in childhood. Rarely, the disorder progresses slowly and affected individuals survive into adolescence or adulthood. ## Frequency The prevalence of TK2-MDS is unknown. Approximately 45 cases have been described. ## Causes As the condition name suggests, mutations in the TK2 gene cause TK2-MDS. The TK2 gene provides instructions for making an enzyme called thymidine kinase 2 that functions within cell structures called mitochondria, which are found in all tissues. Mitochondria are involved in a wide variety of cellular activities, including energy production; chemical signaling; and regulation of cell growth, cell division, and cell death. Mitochondria contain their own genetic material, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Thymidine kinase 2 is involved in the production and maintenance of mtDNA. Specifically, this enzyme plays a role in recycling mtDNA building blocks (nucleotides) so that errors in mtDNA sequencing can be repaired and new mtDNA molecules can be produced. Mutations in the TK2 gene reduce the production or activity of thymidine kinase 2. A decrease in enzyme activity impairs recycling of mtDNA nucleotides, causing a shortage of nucleotides available for the repair and production of mtDNA molecules. A reduction in the amount of mtDNA (known as mtDNA depletion) impairs mitochondrial function. Greater mtDNA depletion tends to cause more severe signs and symptoms. The muscle cells of people with TK2-MDS have very low amounts of mtDNA, ranging from 5 to 30 percent of normal. Other tissues can have 60 percent of normal to normal amounts of mtDNA. It is unclear why TK2 gene mutations typically affect only muscle tissue, but the high energy demands of muscle cells may make them the most susceptible to cell death when mtDNA is lost and less energy is produced in cells. The brain and the liver also have high energy demands, which may explain why these organs are affected in severe cases of TK2-MDS. ### Learn more about the gene associated with TK2-related mitochondrial DNA depletion syndrome, myopathic form * TK2 ## Inheritance Pattern This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	TK2-related mitochondrial DNA depletion syndrome, myopathic form	c3149750	30,420	medlineplus	https://medlineplus.gov/genetics/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form/	2021-01-27T08:24:38	{"omim": ["609560"], "synonyms": []}
Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the Gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia. ## Epidemiology The exact incidence is unknown. ## Clinical description The bite is often small and heals quickly. However, after an incubation period of around 14 to 18 days, an inflammation appears at the site of the bite that becomes painful, indurated, edematous and may ulcerate. The inflammation is followed by fever, vomiting and chills and is associated with local lymphadenopathy. In 50% of the cases, a macular rash develops and in rare cases, swollen, red, and painful joints can appear. Occasionally, diarrhea, vomiting, neuralgias and complications, such as endo- and myocarditis, hepatitis and meningitis, can occur. ## Etiology Spirillum minus is present in the saliva of rats and is only transmitted through bites and scratches. A few cases of transmission by other animals (monkeys, mice) have been reported. ## Diagnostic methods Without a noticeable bite, diagnosis is based solely on detection of the germ. However, this is difficult due to its poor growth on culture media. ## Differential diagnosis The differential diagnosis includes streptobacillary RBF and Haverhill fever (see these terms) and several bacterial and viral infections (Lyme disease, leptospirosis, brucellosis, Rocky Mountain spotted fever, malaria, typhoid fever (see these terms), S. pyogenes and S. pyogenes-associated diseases, S. aureus infection, disseminated gonorrhea, meningococcemia, viral exanthems, secondary syphilis, Epstein-Barr virus, and coxsackieviruses). ## Management and treatment Management requires a prophylactic (avoiding direct or indirect contact with host-animals) and therapeutic approach (local treatment and antimicrobial therapy). Treatment of this form of rat-bite fever is primarily based on penicillin G administration as little is known about the susceptibility of this germ to other antibiotics. ## Prognosis Without treatment, symptoms disappear within 3-4 days but regular relapses can occur 3-10 days later. The initial lesion can become necrotic and can desquamate. The relapses can go on for a year but normally the symptoms disappear within two months. If left untreated, RBF carries a mortality rate of 6.5% due to complications. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Spirillary rat-bite fever	c0152062	30,421	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99903	2021-01-23T17:03:49	{"mesh": ["D011906"], "umls": ["C0152062"], "icd-10": ["A25.0"], "synonyms": ["Sodoku"]}
Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. ## Epidemiology This syndrome has been described in five members from three generations of one family. ## Genetic counseling Inhertitance is thought to be autosomal dominant or autosomal recessive with pseudodominance. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Spondylocamptodactyly syndrome	c1838781	30,422	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3180	2021-01-23T16:59:16	{"gard": ["4972"], "mesh": ["C535779"], "omim": ["600000"], "umls": ["C1838781"], "icd-10": ["Q87.5"]}
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). ## Epidemiology Primary ciliary dyskinesia (PCD) has an estimated incidence of 1/15,000-1/30,000 live births, but this is probably underestimation. Prevalence is difficult to determine. ## Clinical description Affected patients develop signs of PCD at birth or within the first few months of life. However, owing to the diagnostic challenges, some cases of PCD are not diagnosed until the adulthood. Most full-term neonates have respiratory distress with tachypnea (infant acute respiratory distress syndrome) and usually require supplemental oxygen for days, some for weeks. The usual findings in infants and children are daily rhinitis, and daily year-round wet cough occurring soon after birth, with associated recurrent or chronic bacterial infections of the lower airways. Chronic otitis media is common, sometimes with temporary or permanent hearing loss and impaired speech development. Most patients have recurrent sinus infections. Bronchiectasis develops in an age-dependent manner, and is nearly universal in adults. Pectus excavatum and scoliosis have been reported rarely (5-10%), as well as digital clubbing. Almost all males with PCD are infertile, due to dysmotility of spermatozoa, although a few have normal sperm motility. Reduced fertility or a history of ectopic pregnancies has been reported in affected women. Situs inversus totalis, a mirror-image reversal of all visceral organs, is found in 40-50% of individuals and is known as the Kartagener type. Heterotaxy (discordance of right and left patterns of normally asymmetric structures) is present in at least 12%, and a subset of those have structural congenital heart disease. A very rare association of X-linked PCD with either retinitis pigmentosa or intellectual deficiency has been reported. ## Etiology Pulmonary disease in PCD is related to defects in lung defense mechanisms due to abnormal ciliary structure and function with impaired mucociliary clearance. Mutations in around 46 different genes throughout the genome have been found to be causative. Some of these include DNAH5, CCDC39, DNAI1, CCDC40, DNAH11, ZMYND10, CCDC103, CCDC151 and ARMC4. A third of currently recognized patients do not have mutations in these genes. ## Diagnostic methods Diagnosis is based on the characteristic clinical signs. Methods include molecular genetic testing identifying biallelic pathogenic variants (or hemizygous in males for X-linked genes, or mono-allelic for autosomal dominant trait) in one of the causative genes, as well as transmission electron microscopy identifying specific ciliary ultrastructural defects in biopsy samples. Other supportive tests include measurement of nasal nitric oxide in upper airways (in patients aged of 5 years or more) that tends to be low in PCD, after cystic fibrosis link has been ruled out, high-speed videomicroscopy to assess cilia waveform and beat frequency, immunofluorescent staining to study ciliary structure, and mucociliary clearance analysis to assess impairment. ## Differential diagnosis The main differential diagnoses are cystic fibrosis, immunodeficiency syndromes and gastroesophageal reflux. Additionally, PCD has been noted in patients with Cri du chat syndrome due to the common locus on chromosome 5p. Segmental deletion of chromosome 5p in Cri du chat syndrome usually includes PCD-associated gene DNAH5 and the pathogenic variant in the remaining allele of DNAH5 renders it to PCD. ## Antenatal diagnosis If disease-causing mutations are known in a family, prenatal diagnosis can be performed using molecular analysis. ## Genetic counseling PCD is usually inherited in an autosomal recessive manner. Some cases with autosomal dominant and X-linked trait have been observed. Genetic counseling should be provided to affected families. ## Management and treatment Regular clinical visits to monitor disease status are key. Aggressive treatment is recommended to improve mucus clearance. Antibiotic therapy is required and routine immunization is advised. Sinus disease can be treated with nasal steroids and nasal lavage. Polyps may require surgical treatment. Audiological assessment, hearing aids, and communication assistance should be offered where necessary. Patients with end-stage lung disease are candidates for lung transplantation. ## Prognosis The prognosis depends on timely diagnosis and appropriate treatment. Life expectancy is likely somewhat shortened, although quantitative estimates are not currently available. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Primary ciliary dyskinesia	c0340038	30,423	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=244	2021-01-23T17:20:20	{"gard": ["4484"], "mesh": ["C562757"], "omim": ["215518", "215520", "242670", "242680", "244400", "300991", "606763", "608644", "608646", "608647", "610852", "611884", "612274", "612444", "612518", "612649", "612650", "613193", "613807", "613808", "614017", "614679", "614874", "614935", "615067", "615294", "615444", "615451", "615481", "615482", "615500", "615504", "615505", "615872", "616037", "616481", "616726", "617091", "617092", "617577", "618063", "618449", "618695", "618781", "618801"], "icd-10": ["Q34.8"], "synonyms": ["PCD"]}
Stafford (1961), using the identical blocks test as a measure of spatial visualization, studied 104 fathers and mothers and their 58 teenage sons and 70 daughters. Males showed higher average scores than females in both the parental and offspring group. No correlation of scores existed between fathers and mothers and none between fathers and sons. The correlations between fathers and daughters, between mothers and sons, and between mothers and daughters was what would be expected on the assumption that the aptitude for visualizing space is an X-linked recessive trait. Garron (1970) pointed out that if spatial and numerical abilities are determined by an X-linked recessive gene, patients with Turner syndrome should show superior not inferior performance. Bock and Kolakowski (1973) presented further evidence for X-linked recessive inheritance. Uncertainty about X-linkage was introduced by the studies of Loehlin et al. (1978). Sherman (1978) reviewed the whole subject of sex-related cognitive differences and discounted a biologic basis for them. Specifically, she examined the suggestion of X-linked inheritance of mathematical problem solving and spatial visualization and concluded that the hypotheses 'are disconfirmed.' Sherman (1978), 'in order to increase the precision of expression,' made use in her book of the neuter pronouns 'tey,' 'ter' and 'tem' when the sex of the person was used in a generic sense. The three neologisms were conceived as the singular equivalents of they, their and them. Smalley et al. (1989) examined performance on 6 spatial tests in 73 members of 4 generations of an extended kindred. Nonadditive genetic variance was substantial for 1 of the 6 tests, card rotations. Whether this nonadditive genetic variance was due to a major autosomal gene was equivocal in light of results from segregation and linkage analyses. There was no evidence for the genetic variance for mental rotations or hidden patterns, in contrast to previous findings suggesting major gene involvement (Ashton et al., 1979). Smalley et al. (1989) concluded that if spatial ability is due, in part, to an autosomal major gene, the gene has variable expression (reflected in different tests) or genetic heterogeneity is pronounced. The rationale for studying a single large kindred was the possibility of reducing genetic heterogeneity and increasing the power of linkage studies. Turner syndrome (monosomy X) is associated with a characteristic neurocognitive profile that includes impaired visuospatial/perceptual abilities. Ross et al. (2000) used a molecular approach to identify a critical region of the X chromosome for neurocognitive aspects of Turner syndrome. Partial deletions of Xp in 34 females were mapped by FISH or by loss of heterozygosity of polymorphic markers. Discriminant function analysis optimally identified the Turner syndrome-associated neurocognitive phenotype. Only subjects missing approximately 10 Mb of distal Xp manifested the specified neurocognitive profile. The phenotype was seen with either paternally or maternally inherited deletions and with either complete or incomplete skewing of X inactivation. Fine mapping of informative deletions implicated a critical region of less than 2 Mb within the pseudoautosomal region (PAR1). Ross et al. (2000) concluded that the haploinsufficiency of a PAR1 gene or genes is the basis for susceptibility to the Turner syndrome neurocognitive phenotype. Females with nonmosaic deletions missing only distal Xp22.33, at a minimum, manifested the defined Turner syndrome-associated cognitive profile. Neuro \- Spatial visualization aptitude Inheritance \- ? X-linked recessive trait ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	SPATIAL VISUALIZATION, APTITUDE FOR	c1839263	30,424	omim	https://www.omim.org/entry/313000	2019-09-22T16:17:14	{"mesh": ["C564058"], "omim": ["313000"], "synonyms": ["Alternative titles", "VISUOSPATIAL/PERCEPTUAL ABILITIES"]}
A number sign (#) is used with this entry because it does not represent a single gene locus. Many of these blood groups have been found only in a single family. They include Levay, Jobbins, Becker, Ven, Cavaliere, Berrens, Wright, Batty, Romunde, Chr, Swann (601550), Good, Bi, Froese (601551), and Tr. The relation, if any, of each to the major systems is not known, mainly because the one or few families in which they have been found do not contribute enough information. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	BLOOD GROUP--PRIVATE SYSTEMS	None	30,425	omim	https://www.omim.org/entry/111500	2019-09-22T16:44:12	{"omim": ["111500"], "synonyms": ["Alternative titles", "ANTIGENIC DETERMINANTS OF LOW FREQUENCY IN THE POPULATION"]}
Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Short stature-valvular heart disease-characteristic facies syndrome	c1852073	30,426	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2868	2021-01-23T17:07:04	{"mesh": ["C565094"], "omim": ["126190"], "icd-10": ["Q87.1"]}
Caseous lymphadenitis Other namesThin ewe syndrome SpecialtyVeterinary medicine SymptomsPus-filled abscesses in lymph nodes and internal organs, weight loss CausesCorynebacterium pseudotuberculosis TreatmentDrainage of abscesses, chemical cauterization, removal of external lymph nodes, antibiotics Caseous lymphadenitis is an infectious disease caused by the bacterium Corynebacterium pseudotuberculosis, that affects the lymphatic system, resulting in abscesses in the lymph nodes and internal organs. It is found mostly in goats and sheep and at the moment it has no cure.[1] ## Contents * 1 Research * 2 Cause * 3 Signs * 4 Pathogenesis and transmission * 4.1 Diagnostics * 4.2 Occurrence in other species * 5 Treatment and vaccination * 6 References ## Research[edit] This disease is widely distributed throughout the world. It is found in North and South America, Australia, New Zealand, Europe, Asia and Africa.[citation needed] Caseous lymphadenitis causes considerable economic harm, because skins and carcasses have to be condemned. It seriously affects reproduction efficiency, wool, meat and milk production. Particularly in Australia, one of the largest producers of meat and wool. Studies have found CL incidence in commercial goat herds as high as 30%.[2] ## Cause[edit] The causative organism of caseous lymphadenitis is Corynebacterium pseudotuberculosis. Once successfully established within the host, this pathogen will circumvent the immune system with ease. As a result, it causes chronic infection that may last for most or all of an animal’s life, although it is seldom lethal.[3] ## Signs[edit] It manifests itself predominantly in the form of large, pus-filled cysts on the neck, sides and udders of goats and sheep. Abscesses can also develop on internal organs.[1] An abscess can develop either at the location where the bacteria enters the body or at a nearby lymph node. The infection can spread through the blood or lymphatic system, causing abscesses to form in other lymph nodes or internal organs throughout the body. Most commonly affected organs are the liver, lungs, kidneys and lymph nodes associated these organs. Abscesses grow gradually over time, and if they are located close to the skin, rupture is common. The abscesses are reported not to be painful.[1][4] ## Pathogenesis and transmission[edit] The disease is highly contagious.[5] When abscess rupture, releases it huge numbers of bacteria onto the skin and wool and it results to the consequent contamination of the surrounding environment. Neighboring animals may then be infected by the bacteria through immediate physical contact with the affected individual or indirectly via already contaminated fomites.[3] Infected animals can contaminate the feed, water, soil, pasture and facilities. Even away from its mammalian host, the organism is well equipped for long-term survival in the environment. The disease is also easily spread through the materials that are used during the operation of the animals such as castration, identification with ear tags or by tattooing, and dehydration of abscesses. It is thought to also be spread by coughing or even by flies.[6] ### Diagnostics[edit] Culture remains the gold standard for diagnosis in small ruminants. Synergistic hemolysis inhibition testing, as done for equine species has the ability to generate false positive results when applied to small ruminants.[7] ### Occurrence in other species[edit] Corynebacterium pseudotuberculosis has also been isolated from occurring in other species such as such as deer, cattle, pigs, hedgehogs, laboratory mice, camels, horses, and humans. In only three species; sheep, goats and horses, it is recognized as a specific disease syndrome. The biotype of Corynebacterium pseudotuberculosis affecting horses and cattle is distinguishable from the biotype that infects small ruminants based on its ability to reduce nitrate in vitro. The equine and bovine strains can reduce nitrate, whereas the small ruminant strains typically do not.[6] ## Treatment and vaccination[edit] Treatment of affected animals consists of the drainage of abscesses, followed by cleansing and chemical cauterization, usually with 10% iodine, or even removal of the affected superficial lymph nodes. Also there is antibiotic therapy, which can be used as a treatment. Despite the fact that C. pseudotuberculosis is sensitive in vitro to almost all antibiotics that have been tested, antibiotic therapy is not very efficient.[citation needed] The most effective way of controlling caseous lymphadenitis is still a topic of discussion. Vaccination is the primary remedy for the control of the disease in several countries, whereby immunisation reduces the spread of infection, leading to a gradual decline in incidences of the disease. However, proprietary caseous lymphadenitis vaccine is still not available, which would be a complete protection against the disease.[5][8] ## References[edit] Wikimedia Commons has media related to Caseous lymphadenitis. 1. ^ a b c "Common Diseases and Health Problems in Sheep and Goats" (PDF). Animal science. 13 Dec 2019. 2. ^ "Caseous Lymphadenitis of Sheep and Goats - Circulatory System". Merck Veterinary Manual. Retrieved 2019-12-13. 3. ^ a b Baird, G.J.; Fontaine, M.C. (2007). "Corynebacterium pseudotuberculosis and its Role in Ovine Caseous Lymphadenitis". Journal of Comparative Pathology. 137 (4): 179–210. doi:10.1016/j.jcpa.2007.07.002. PMID 17826790. 4. ^ "Caseous lymphadenitis in sheep and goats". www.omafra.gov.on.ca. Retrieved 2019-12-13. 5. ^ a b "Caseous Lymphadenitis in Small Ruminants". Veterinary Clinics of North America: Food Animal Practice. 17 (2): 359–371. July 2001. doi:10.1016/j.smallrumres.2007.12.025. Retrieved 2019-12-13. 6. ^ a b Windsor, P. A. (2011). "Control of caseous lymphadenitis". The Veterinary Clinics of North America. Food Animal Practice. 27 (1): 193–202. doi:10.1016/s0749-0720(15)30033-5. PMID 21215903. Retrieved 2019-12-13. 7. ^ Copeland, Adam; Speckels, Amanda; Merkatoris, Paul; Breuer, Ryan M; Schleining, Jennifer A; Smith, Joseph (8 April 2020). "Laser ablation and management of a retropharyngeal abscess caused by Corynebacterium pseudotuberculosis in a ram". Veterinary Record Case Reports. 8 (2): e001010. doi:10.1136/vetreccr-2019-001010. 8. ^ Williamson, L. H. (2001). "Prevalence of caseous lymphadenitis and usage of caseous lymphadenitis vaccines in sheep flocks". The Veterinary Clinics of North America. Food Animal Practice. 17 (2): 359–71, vii. doi:10.1016/s0749-0720(15)30033-5. PMID 11515406. Retrieved 2019-12-13. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Caseous lymphadenitis	c0275691	30,427	wikipedia	https://en.wikipedia.org/wiki/Caseous_lymphadenitis	2021-01-18T18:37:00	{"wikidata": ["Q655816"]}
Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones. Nearly half of the individuals affected with Peters anomaly have low vision early in life and about a quarter are legally blind. Due to a lack of visual stimulation, some individuals develop "lazy eye" (amblyopia). Peters anomaly is often associated with other eye problems, such as increased pressure within the eye (glaucoma), clouding of the lens (cataract), and unusually small eyeballs (microphthalmia). In most cases, Peters anomaly is bilateral, which means that it affects both eyes, although the level of vision impairment may be different in each eye. These individuals may have eyes that do not point in the same direction (strabismus). In some people with Peters anomaly, corneal clouding improves over time leading to improved vision. There are two types of Peters anomaly, which are distinguished by their signs and symptoms. Peters anomaly type I is characterized by an incomplete separation of the cornea and iris and mild to moderate corneal opacity. Type II is characterized by an incomplete separation of the cornea and lens and severe corneal opacity that may involve the entire cornea. ## Frequency The exact prevalence of Peters anomaly is unknown. This condition is one of a group of disorders known as congenital corneal opacities, which affect 3 to 6 individuals per 100,000. ## Causes Mutations in the FOXC1, PAX6, PITX2, or CYP1B1 gene can cause Peters anomaly. The FOXC1, PAX6, and PITX2 genes are all members of a family called homeobox genes that direct the formation of many parts of the body. These three genes are involved in the development of the anterior segment of the eye. The CYP1B1 gene provides instructions for making an enzyme that is active in many tissues, including the eye. The enzyme's role in these tissues is unclear; it is likely involved in the development of the anterior segment. Mutations in any of these four genes disrupt development of the anterior segment of the eye. These mutations can lead to severe developmental problems, such as incomplete separation of eye structures and complete corneal opacity, or they can result in minor eye abnormalities including small, faint opacities. It is likely that mutations that cause a complete absence of protein function result in the most severe eye problems. It is unknown why both eyes are affected in some cases and in others only one eye is abnormal. In many cases of Peters anomaly, there is no mutation identified in any of these four genes. The cause of the condition in these cases is unknown. ### Learn more about the genes associated with Peters anomaly * CYP1B1 * FOXC1 * PAX6 * PITX2 ## Inheritance Pattern Most cases of Peters anomaly are sporadic, which means that they occur in people with no apparent history of the disorder in their family. In many of these sporadic cases the genetic cause of the condition is unknown. However, some of these cases are caused by a new mutation in one of the previously mentioned genes or by the inheritance of a mutation from unaffected parents. In rare cases, the condition (or related eye disorders) has been reported to occur in multiple members of the same family. Whether sporadic or inherited, when Peters anomaly is caused by mutations in the CYP1B1 gene, it follows an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. When caused by mutations in the FOXC1, PAX6, or PITX2 gene, the condition follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Peters anomaly	c4310809	30,428	medlineplus	https://medlineplus.gov/genetics/condition/peters-anomaly/	2021-01-27T08:24:56	{"gard": ["7377"], "omim": ["604229"], "synonyms": []}
Phyllodes tumors of the breast are rare tumors that start in the connective (stromal) tissue of the breast. They get their name from the leaf-like pattern in which they grow (phyllodes means leaf-like in Greek). They are most common in women in their 30s and 40s, although women of any age can be affected. These tumors, which are usually painless, tend to grow quickly, but rarely spread outside of the breast. Most phyllodes tumors are benign. About 1 in 10 are cancerous. The underlying cause of these tumors in unknown. Surgery is the main treatment. Because the tumors can reoccur if they are not removed with enough surrounding tissue, the tumor and at least 1 cm of tissue should be removed. Cancerous phyllodes tumors are often treated with mastectomy. Close follow-up with frequent breast examinations are recommended after surgery. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Phyllodes tumor of the breast	c0010701	30,429	gard	https://rarediseases.info.nih.gov/diseases/9514/phyllodes-tumor-of-the-breast	2021-01-18T17:58:20	{"mesh": ["D003557"], "orphanet": ["180261"], "synonyms": ["Phyllodes breast tumor", "Cystosarcoma phyllodes of the breast", "Cystosarcoma phyllodes", "Phylloides tumor"]}
"Prinzmetal" redirects here. For the cardiologist, see Myron Prinzmetal. Variant angina Other namesPrinzmetal's angina, Prinzmetal angina [1] Illustration depicting angina SpecialtyCardiology Variant angina, and less commonly Prinzmetal angina, vasospastic angina, angina inversa, coronary vessel spasm, or coronary artery vasospasm, is a syndrome typically consisting of angina (cardiac chest pain) in contrast to stable angina which is generally triggered by exertion or intense exercise, commonly occurs in individuals at rest or even asleep and is caused by vasospasm, a narrowing of the coronary arteries due to contraction of the heart's smooth muscle tissue in the vessel walls.[2] In comparison, stable angina is due to the permanent occlusion of these vessels by atherosclerosis (i.e. buildup of fatty plaque and hardening of the arteries).[3] ## Contents * 1 History * 2 Signs and symptoms * 3 Risk factors * 4 Mechanism * 5 Diagnosis * 6 Prevention * 7 Treatment * 7.1 Acute attacks * 7.2 Maintenance * 7.3 Emergency * 8 Prognosis * 9 See also * 10 References * 11 External links ## History[edit] Dr. William Heberden is credited with being the first to describe in a 1768 publication the occurrence of chest pain attacks (i.e. angina pectoris) that appeared due to pathologically occluded coronary arteries. These attacks were triggered by exercise or other forms of exertion and relieved by rest and nitroglycerin. In 1959, Dr. Myron Prinzmetal described a type of angina that differed from the classic cases of Heberden angina in that it commonly occurred in the absence of exercise or exertion. Indeed, it often woke sufferers from their normal sleep. This variant angina differed from the classical angina described by Dr. Heberden in that it appeared due to episodic vasospasm of coronary arteries that were typically not occluded by pathological processes such as atherosclerosis, emboli, or spontaneous dissection (i.e. tears in the walls of coronary arteries).[3][4][5] Variant angina had been described twice in the 1930s by other authors[6][7] and was referred to as cardiac syndrome X (CSX) by Kemp in 1973, in reference to patients with exercise-induced angina who nonetheless had normal coronary angiograms.[8] CSX is now termed microvascular angina, i.e. angina caused by disease of the heart's small arteries.[3] Some key features of variant angina are chest pain that is concurrently associated with elevations in the ST segment on electrocardiography recordings, that often occurs during the late evening or early morning hours in individuals who are at rest, doing non-strenuous activities, or asleep, and that is not associated with permanent occlusions of their coronary vessels. The disorder seems to occur more often in women than men, has a particularly high incidence in Japanese males as well as females, and afflicts individuals who may smoke tobacco products but exhibit few other cardiovascular risk factors.[3][9] However, individuals exhibiting angina symptoms that are associated with depressions in their electrocardiogram ST segments, that are triggered by exertion, and/or who have atherosclerotic coronary artery disease are still considered to suffer variant angina if their symptoms are caused by coronary artery spasms. Finally, rare cases may exhibit symptom-free coronary artery spasm that is nonetheless associated with cardiac muscle ischemia (i.e. restricted blood flow and poor oxygenation) along with concurrent ischemic electrocardiographic changes. The term vasospastic angina is sometimes used to include all of these atypical cases with the more typical cases of variant angina.[3] Here, variant angina is taken to include typical and atypical cases. For a portion of patients, variant angina may be a manifestation of a more generalized episodic smooth muscle-contractile disorder such as migraine, Raynaud's phenomenon, or aspirin-induced asthma.[10] Variant angina is also the major complication of eosinophilic coronary periarteritis, an extremely rare disorder caused by extensive eosinophilic infiltration of the adventitia and periadventitia, i.e. the soft tissues, surrounding the coronary arteries.[11][12] Variant angina also differs from the Kounis syndrome (also termed allergic acute coronary syndrome) in which coronary artery constriction and symptoms are caused by allergic or strong immune reactions to a drug or other substance. Treatment of the Kounis syndrome very much differs from that for variant angina.[13] ## Signs and symptoms[edit] In contrast to patients with angina pectoris secondary to coronary artery atherosclerosis, people with variant angina are generally younger and have fewer risk factors for coronary artery disease except for smoking, which is a common and very significant risk factor for both types of angina. Sufferers usually have repeated episodes of unexplained (e.g., in the absence of exertion and occurring at sleep or in the early morning hours) chest pain, light-headedness, excessive sweating, and/or reduced exercise tolerance that, unlike atherosclerosis-related angina pectoris, typically does not progress to myocardial infarction (i.e. heart attack). Unlike cases of atherosclerosis-related stable angina, these symptoms are often unrelated to exertion and occur in night or early morning hours.[3] (However, individuals with atherosclerosis-related unstable angina may similarly exhibit night to early morning hour symptoms that are unrelated to exertion.[14]) Cardiac examination of individuals with variant angina is usually normal in the absence of current symptoms.[10][15] Two-thirds of these individuals do have concurrent atherosclerosis of a major coronary artery, but this is often mild or not in proportion to the degree of their symptoms. Persons who have atherosclerosis-based occlusion that is ≥70% in a single coronary artery or that involves multiple coronary arteries are predisposed to develop a variant angina form that has a poorer prognosis than most other forms of this disorder.[16] In these individuals but also in a small percentage of individuals without appreciable atherosclerosis of their coronary arteries, attacks of coronary artery spasm can have far more serious presentations such as fainting, shock, and cardiac arrest. Typically, these presentations reflect the development of a heart attack and/or a potentially lethal heart arrhythmia; they require immediate medical intervention as well as consideration for the presence of, and specific treatment regimens for, their disorder.[17][18] Variant angina should be suspected by a cardiologist when a) an individual's symptoms occur at rest or during sleep; b) an individual's symptoms occur in clusters; c) an individual with a history of angina does not develop angina during treadmill stress testing (variant angina is exercise tolerant); d) an individual with a history of angina shows no evidence of other forms of cardiac disease; and/or e) an individual without features of coronary artery atherosclerotic heart disease has a history of unexplained fainting.[3][17] Patients complaining of chest pain should be immediately checked for an abnormal electrocardiogram (ECG). ECG changes compatible but not indicative of variant angina include elevations rather than depressions of the ST segment or an elevated ST segment plus a widening of the R wave to create a single, broad QRS complex peak termed the "monophasic curve".[3] Associated with these ECG changes, there may be small elevations in the blood levels of cardiac damage marker enzymes, especially during long attacks. Some individuals with otherwise typical variant angina may show depressions, rather than elevations in the ST segments of their ECGs during angina pain; they may also show new U waves on ECGs during angina attacks.[3] A significant percentage of patients with variant angina have asymptomatic (i.e. symptom-free) episodes of coronary artery spasm. These episodes may be far more frequent than expected, cause myocardial ischemia (i.e. insufficient blood flow to portions of the heart), and be accompanied by potentially serious abnormalities in the rhythm of heart beats, i.e. arrythmias. The only evidence of the presence of totally asymptomatic variant angina would be detection of diagnostic changes on fortuitously conducted ECGs.[3][18] ## Risk factors[edit] The intake of certain agents have been reported to trigger an attack of variant angina. These agents include: * recreational agents (e.g. nicotine in tobacco and other forms, alcoholic beverages, marijuana, cocaine); * catecholamine-like stimulants (e.g. epinephrine, dopamine, various amphetamines); * the uterus-contracting drug, ergonovine; * parasympathomimetic drugs (e.g. acetylcholine, methacholine); * anti-migraine drugs (e.g. various triptans), and; * chemotherapeutic drugs (e.g. 5-fluorouracil, capecitabine). * High consumption of Energy drinks have been associated with variant angina. In addition, hyperventilation and virtually any stressful emotional or physical (e.g. cold exposure) event that is suspected of causing significant rises in the blood levels of catecholamines may trigger variant angina.[3][16] ## Mechanism[edit] The mechanism that causes such intense vasospasm, as to cause a clinically significant narrowing of the coronary arteries is so far unknown, but there are three relevant hypotheses: 1. Enhanced contractility of coronary vascular smooth muscle due to reduced nitric oxide bioavailability caused by a defect in the endothelial nitric oxide synthetase enzyme which leads to endothelial function abnormalities.[16][19][20] * Acetylcholine is normally released by the parasympathetic nervous system (PSNS) at rest, and causes dilation of the coronary arteries.[21] While acetylcholine induces vasoconstriction of vascular smooth muscle cells through a direct mechanism, acetylcholine also stimulates endothelial cells to produce nitric oxide (NO). NO then diffuses out of the endothelial cells, stimulating relaxation of the nearby smooth muscle cells. In healthy arterial walls, the overall indirect relaxation induced by acetylcholine (via nitric oxide) is of greater effect than any contraction that is induced. * When the endothelium is dysfunctional, stimulation with acetylcholine will fail to produce, or produce very little, nitric oxide. Thus, acetylcholine released by the PSNS at rest will simply cause contraction of the vascular smooth muscle. 2. Thromboxane A2, serotonin, histamine, and endothelin are vasoconstrictor which activated platelets release and/or cause to be released. Abnormal platelet activation (e.g. by Lipoprotein(a) interference with fibrinolysis by competing with plasminogen to thereby impair fibrinolysis and promote platelet activation) results in the release of these mediators and coronary vasospasm.[5][16][6] 3. Increased alpha-adrenergic receptor activity in epicardial coronary arteries or the excessive release of the "flight or fight" catacholamines (e.g. norepinephrine) that activate these receptors may lead to coronary vasospasm.[3][16][22] Other factors thought to be associated with the development of variant angina include: intrinsic hypercontractility of coronary artery smooth muscle; existence of significant atherosclerotic coronary artery disease; and reduced activity of the parasympathetic nervous system (which normally functions to dilate blood vessels).[10][16] ## Diagnosis[edit] Prinzmetal angina Although variant angina has been documented in between 2% to 10% of angina patients, it can be overlooked by cardiologists who stop further evaluations after ruling out typical angina. Individuals who develop cardiac chest pain are generally treated empirically as an "acute coronary syndrome", and are immediately tested for elevations in their blood levels of enzymes such as creatine kinase isoenzymes or troponin that are markers for cardiac damage. They are also tested by ECG which may suggest variant angina if it shows elevations in the ST segment or an elevated ST segment plus a widening of the R wave during symptoms that are triggered by a provocative agent (e.g. ergonovine or acetylcholine). The electrocardiogram may show depressions rather than elevations in ST segments but in all diagnosable cases clinical symptoms should be promptly relieved and ECC changes should be promptly reversed by rapidly acting sublingual or intravenous nitroglycerin. However, the gold standard for diagnosing variant angina is to visualize coronary arteries by angiography before and after injection of a provocative agent such as ergonovine, methylergonovine or acetylcholine to precipitate an attack of vasospasm. A positive test to these inducing agents is defined as a ≥90% (some experts require lesser, e.g. ≥70%) constriction of involved arteries. Typically, these constrictions are fully reversed by rapidly acting nitroglycerin.[3][23] Individuals with variant angina may have many undocumented episodes of symptom-free coronary artery spasm that are associated with poor blood flow to portions of the heart and subsequent irregular and potentially serious heart arrhythmias. Accordingly, individuals with variant angina should be intermittently evaluated for this using long-term ambulatory cardiac monitoring.[3][18] ## Prevention[edit] Numerous methods are recommended to avoid attacks of variant angina. Afflicted individuals should not smoke tobacco products. Smoke cessation significantly reduces the incidence of patient-reported variant angina attacks.[16] They should also avoid any trigger known to them to trigger these attacks such as emotional distress, hyperventilation, unnecessary exposure to cold, and early morning exertion. And, they should avoid any of the recreational and therapeutic drugs listed in the above Signs and symptoms and risk factors sections as well as blockers of beta receptors such as propranolol which may theoretically worsen vasospasm by inhibiting beta-2 adrenergic receptor's vasodilation effect mediated by these receptors' naturally occurring stimulator i.e. epinephrine. In addition, aspirin should be used with caution and at low doses since at high doses it inhibits the production of the naturally occurring vasodilator, prostacyclin.[3][23] ## Treatment[edit] See also: angina § treatment ### Acute attacks[edit] During acute attacks, individuals typically respond well to fast-acting sublingual, intravenous, or spray nitroglycerin formulations. The onset of symptom relief in response to intravenous administration, which is used in more severe attacks of angina, occurs almost immediately while sublingual formulations of it act within 1–5 minutes. Spray formulations also require ~1–5 minutes to act.[24] ### Maintenance[edit] As maintenance therapy, sublingual nitroglycerin tablets can be taken 3-5 min before conducting activity that causes angina by the small percentage of patients who experience angina infrequently and only when doing such activity.[24] For most afflicted individuals, antianginals are used as maintenance therapy to avoid attacks of variant angina. Calcium channel blockers of the dihydropyridine class (e.g. nifedipine, amlodipine)[25] or non-dihydropyridine class (e.g. verapamil, diltiazem) are regarded as first-line drugs to avoid angina attacks. Long-acting nitroglycerins such as isosorbide dinitrate or intermittent use of short-acting nitroglycerin (to treat acute symptoms) may be added to the calcium channel blocker regimen in individuals responding sub-optimally to the channel blockers. However, individuals commonly develop tolerance, i.e. resistance, to the efficacy of continuously used long-acting nitroglycerin formulations. One strategy to avoid this development is to schedule nitroglycerin-free periods of between 12 and 14 hours between doses of long-acting nitroglycerin formulations.[24] Individuals whose symptoms are poorly controlled by a calcium blocker may benefit from addition of a long-acting nitroglycerin and/or a second calcium channel blocker of a different class than the blocker already in use. Nevertheless, about 20% of individuals fail to respond adequately to the two-drug calcium blocker plus long-acting nitroglycerin regimen. If these individuals have significant permanent occlusion of their coronary arteries, they may benefit by stenting their occluded arteries. However, coronary stenting is contraindicated in drug- refractory individuals who do not have significant organic occlusion of their coronary arteries.[23] For the latter individuals, other, less fully investigated drugs may provide symptom relief. Statins, e.g. fluvastatin, while not evaluated in large-scale double-blind studies, are reportedly helpful in reducing variant angina attacks and should be considered in patients when calcium channel blockers and nitroglycerin fail to achieve good results.[3] There is also interest in using rho-kinase inhibitors, such as fasudil (available in Japan and China but not the USA),[23] and blocker of alpha-1 adrenergic receptors such as prazosin (which when activated cause vasodilation) but studies are needed to support their clinical utility in variant angina.[3][10] ### Emergency[edit] Individuals with certain severe complications of variant angina require immediate therapy. Individuals presenting with potentially lethal irregularities in the rhythm of their heart beating or a history of episodic fainting spells due to such arrhythmias require implantation of an internal defibrillator and/or cardiac pacemaker to stop such arrhythmias and restore normal heart beating.[17][18] Other rare but severe complications of variant angina viz., myocardial infarction, severe congestive heart failure, and cardiogenic shock require the same immediate medical interventions that are used for other causes of these extremis conditions. In all of these emergency cases, percutaneous coronary intervention to stent areas where coronary arteries evidence spasm is only useful in individuals who have concomitant coronary atherosclerosis on coronary angiogram.[3] ## Prognosis[edit] Most individuals with variant angina have a favorable prognosis provided they are maintained on calcium channel blockers and/or long-acting nitrates; five year survival rates in this group are estimated as over 90%.[3][4] The Japanese Coronary Spasm Association established a clinical risk scoring system to predict outcomes for variant angina. Seven major factors (i.e. history of out of hospital cardiac arrest [score = 4]; smoking, angina at rest, physically obstructive coronary artery disease, and spasm in multiple coronary arteries [score = 2]; and presence of ST segment elevations on ECG and history of using beta blockers [score = 1]) where assigned the indicated scores. Individuals with scores of 0 to 2, 3 to 5, and ≥6 experienced an incidence of a major cardiovascular event in 2.5, 7.0, and 13.0% of cases.[26] ## See also[edit] * Angina pectoris: the most common form of coronary artery spasm; it is due to atherosclerosis. * Kounis syndrome: coronary artery spasm due to an allergic reaction. * eosinophilic coronary periarteritis: a very rare form of coronary artery spasm; it is due to non-allergic infiltration of coronary arteries by eosinophils. ## References[edit] 1. ^ "Variant Angina". www.escardio.org. Retrieved 2 April 2018. 2. ^ Wu, Taixiang; Chen, Xiyang; Deng, Lei (24 November 2017). "Beta-blockers for unstable angina". Cochrane Database of Systematic Reviews. 2017 (11): CD007050. doi:10.1002/14651858.cd007050.pub2. PMC 6486012. 3. ^ a b c d e f g h i j k l m n o p q r s Ahmed B, Creager MA (April 2017). "Alternative causes of myocardial ischemia in women: An update on spontaneous coronary artery dissection, vasospastic angina and coronary microvascular dysfunction". Vascular Medicine (London, England). 22 (2): 146–160. doi:10.1177/1358863X16686410. PMID 28429664. 4. ^ a b Swarup S, Grossman SA (2018). "Coronary Artery Vasospasm". PMID 29261899. Cite journal requires `\|journal=` (help) 5. ^ a b Prinzmetal, Myron; Kennamer, Rexford; Merliss, Reuben; Wada, Takashi; Bor, Naci (1959). "Angina pectoris I. A variant form of angina pectoris". The American Journal of Medicine. 27 (3): 375–88. doi:10.1016/0002-9343(59)90003-8. PMID 14434946. 6. ^ a b Parkinson, John; Bedford, D. Evan (1931). "Electrocardiographic Changes During Brief Attacks of Angina Pectoris". The Lancet. 217 (5601): 15–9. doi:10.1016/S0140-6736(00)40634-3. 7. ^ Brown, G.R.; Holman, Delavan V. (1933). "Electrocardiographic study during a paroxysm of angina pectoris". American Heart Journal. 9 (2): 259–64. doi:10.1016/S0002-8703(33)90720-6. 8. ^ Kemp HG, Jr; Vokonas, PS; Cohn, PF; Gorlin, R (June 1973). "The anginal syndrome associated with normal coronary arteriograms. Report of a six year experience". The American Journal of Medicine. 54 (6): 735–42. doi:10.1016/0002-9343(73)90060-0. PMID 4196179. 9. ^ Smolensky MH, Portaluppi F, Manfredini R, Hermida RC, Tiseo R, Sackett-Lundeen LL, Haus EL (June 2015). "Diurnal and twenty-four hour patterning of human diseases: cardiac, vascular, and respiratory diseases, conditions, and syndromes". Sleep Medicine Reviews. 21: 3–11. doi:10.1016/j.smrv.2014.07.001. PMID 25129838. 10. ^ a b c d Harrison's Cardiovascular Medicine 2/E (2 ed.). New York: McGraw-Hill Education / Medical. 2013-08-02. ISBN 9780071814980. 11. ^ Séguéla PE, Iriart X, Acar P, Montaudon M, Roudaut R, Thambo JB (April 2015). "Eosinophilic cardiac disease: Molecular, clinical and imaging aspects". Archives of Cardiovascular Diseases. 108 (4): 258–68. doi:10.1016/j.acvd.2015.01.006. PMID 25858537. 12. ^ Kajihara H, Tachiyama Y, Hirose T, Takada A, Takata A, Saito K, Murai T, Yasui W (2013). "Eosinophilic coronary periarteritis (vasospastic angina and sudden death), a new type of coronary arteritis: report of seven autopsy cases and a review of the literature". Virchows Archiv. 462 (2): 239–48. doi:10.1007/s00428-012-1351-7. PMID 23232800. 13. ^ Kounis NG (October 2016). "Kounis syndrome: an update on epidemiology, pathogenesis, diagnosis and therapeutic management". Clinical Chemistry and Laboratory Medicine. 54 (10): 1545–59. doi:10.1515/cclm-2016-0010. PMID 26966931. 14. ^ "What Is Angina?". National Heart Lung and Blood Institute. Retrieved April 28, 2010. 15. ^ "Prinzmetal's Angina, Variant Angina and Angina Inversa". American Heart Association. Retrieved 2015-06-20. 16. ^ a b c d e f g Harris JR, Hale GM, Dasari TW, Schwier NC (September 2016). "Pharmacotherapy of Vasospastic Angina". Journal of Cardiovascular Pharmacology and Therapeutics. 21 (5): 439–51. doi:10.1177/1074248416640161. PMID 27081186. 17. ^ a b c Nishizaki M (December 2017). "Life-threatening arrhythmias leading to syncope in patients with vasospastic angina". Journal of Arrhythmia. 33 (6): 553–561. doi:10.1016/j.joa.2017.04.006. PMC 5728714. PMID 29255500. 18. ^ a b c d Kundu A, Vaze A, Sardar P, Nagy A, Aronow WS, Botkin NF (March 2018). "Variant Angina and Aborted Sudden Cardiac Death". Current Cardiology Reports. 20 (4): 26. doi:10.1007/s11886-018-0963-1. PMID 29520510. 19. ^ Yoo, Sang-Yong; Kim, Jang-Young (2009). "Recent Insights into the Mechanisms of Vasospastic Angina". Korean Circulation Journal. 39 (12): 505–11. doi:10.4070/kcj.2009.39.12.505. PMC 2801457. PMID 20049135. 20. ^ Egashira, Kensuke; Katsuda, Yousuke; Mohri, Masahiro; Kuga, Takeshi; Tagawa, Tatuya; Shimokawa, Hiroaki; Takeshita, Akira (1996). "Basal release of endothelium-derived nitric oxide at site of spasm in patients with variant angina". Journal of the American College of Cardiology. 27 (6): 1444–9. doi:10.1016/0735-1097(96)00021-6. PMID 8626956. 21. ^ Sun, Hongtao; Mohri, Masahiro; Shimokawa, Hiroaki; Usui, Makoto; Urakami, Lemmy; Takeshita, Akira (28 February 2002). "Coronary microvascular spasm causes myocardial ischemia in patients with vasospastic angina". Journal of the American College of Cardiology. 39 (5): 847–851. doi:10.1016/S0735-1097(02)01690-X. PMID 11869851. 22. ^ Yasue, Hirofumi; Touyama, Masato; Kato, Hirofumi; Tanaka, Satoru; Akiyama, Fumiya (February 1976). "Prinzmetal's variant form of angina as a manifestation of alpha-adrenergic receptor-mediated coronary artery spasm: Documentation by coronary arteriography". American Heart Journal. 91 (2): 148–155. doi:10.1016/s0002-8703(76)80568-6. PMID 813507. 23. ^ a b c d Hung MJ, Cherng WJ (January 2013). "Coronary Vasospastic Angina: Current Understanding and the Role of Inflammation". Acta Cardiologica Sinica. 29 (1): 1–10. PMC 4804955. PMID 27122679. 24. ^ a b c Thadani U (August 2014). "Challenges with nitrate therapy and nitrate tolerance: prevalence, prevention, and clinical relevance". American Journal of Cardiovascular Drugs : Drugs, Devices, and Other Interventions. 14 (4): 287–301. doi:10.1007/s40256-014-0072-5. PMID 24664980. 25. ^ "NORVASC- amlodipine besylate tablet". DailyMed. 2019-03-14. Retrieved 2019-12-19. "Vasospastic Angina: NORVASC has been demonstrated to block constriction and restore blood flow in coronary arteries and arterioles in response to calcium, potassium epinephrine, serotonin, and thromboxane A2 analog in experimental animal models and in human coronary vessels in vitro. This inhibition of coronary spasm is responsible for the effectiveness of NORVASC in vasospastic (Prinzmetal's or variant) angina." 26. ^ Takagi Y, Takahashi J, Yasuda S, Miyata S, Tsunoda R, Ogata Y, Seki A, Sumiyoshi T, Matsui M, Goto T, Tanabe Y, Sueda S, Sato T, Ogawa S, Kubo N, Momomura S, Ogawa H, Shimokawa H (September 2013). "Prognostic stratification of patients with vasospastic angina: a comprehensive clinical risk score developed by the Japanese Coronary Spasm Association". Journal of the American College of Cardiology. 62 (13): 1144–53. doi:10.1016/j.jacc.2013.07.018. PMID 23916938. ## External links[edit] Classification D * ICD-10: I20.1 * ICD-9-CM: 413.1 * MeSH: D000788 * DiseasesDB: 13727 External resources * MedlinePlus: 000159 * eMedicine: med/447 * Crea, F; Lanza, GA (11 Nov 2003). "Vasospastic Angina". e-Journal of Cardiology Practice. 2 (9). * v * t * e Cardiovascular disease (heart) Ischaemic Coronary disease * Coronary artery disease (CAD) * Coronary artery aneurysm * Spontaneous coronary artery dissection (SCAD) * Coronary thrombosis * Coronary vasospasm * Myocardial bridge Active ischemia * Angina pectoris * Prinzmetal's angina * Stable angina * Acute coronary syndrome * Myocardial infarction * Unstable angina Sequelae * hours * Hibernating myocardium * Myocardial stunning * days * Myocardial rupture * weeks * Aneurysm of heart / Ventricular aneurysm * Dressler syndrome Layers Pericardium * Pericarditis * Acute * Chronic / Constrictive * Pericardial effusion * Cardiac tamponade * Hemopericardium Myocardium * Myocarditis * Chagas disease * Cardiomyopathy * Dilated * Alcoholic * Hypertrophic * Tachycardia-induced * Restrictive * Loeffler endocarditis * Cardiac amyloidosis * Endocardial fibroelastosis * Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis * infective endocarditis * Subacute bacterial endocarditis * non-infective endocarditis * Libman–Sacks endocarditis * Nonbacterial thrombotic endocarditis Valves * mitral * regurgitation * prolapse * stenosis * aortic * stenosis * insufficiency * tricuspid * stenosis * insufficiency * pulmonary * stenosis * insufficiency Conduction / arrhythmia Bradycardia * Sinus bradycardia * Sick sinus syndrome * Heart block: Sinoatrial * AV * 1° * 2° * 3° * Intraventricular * Bundle branch block * Right * Left * Left anterior fascicle * Left posterior fascicle * Bifascicular * Trifascicular * Adams–Stokes syndrome Tachycardia (paroxysmal and sinus) Supraventricular * Atrial * Multifocal * Junctional * AV nodal reentrant * Junctional ectopic Ventricular * Accelerated idioventricular rhythm * Catecholaminergic polymorphic * Torsades de pointes Premature contraction * Atrial * Junctional * Ventricular Pre-excitation syndrome * Lown–Ganong–Levine * Wolff–Parkinson–White Flutter / fibrillation * Atrial flutter * Ventricular flutter * Atrial fibrillation * Familial * Ventricular fibrillation Pacemaker * Ectopic pacemaker / Ectopic beat * Multifocal atrial tachycardia * Pacemaker syndrome * Parasystole * Wandering atrial pacemaker Long QT syndrome * Andersen–Tawil * Jervell and Lange-Nielsen * Romano–Ward Cardiac arrest * Sudden cardiac death * Asystole * Pulseless electrical activity * Sinoatrial arrest Other / ungrouped * hexaxial reference system * Right axis deviation * Left axis deviation * QT * Short QT syndrome * T * T wave alternans * ST * Osborn wave * ST elevation * ST depression * Strain pattern Cardiomegaly * Ventricular hypertrophy * Left * Right / Cor pulmonale * Atrial enlargement * Left * Right * Athletic heart syndrome Other * Cardiac fibrosis * Heart failure * Diastolic heart failure * Cardiac asthma * Rheumatic fever [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Variant angina	c0002963	30,430	wikipedia	https://en.wikipedia.org/wiki/Variant_angina	2021-01-18T18:59:52	{"gard": ["7465"], "mesh": ["D000788"], "icd-9": ["413.1"], "icd-10": ["I20.1"], "wikidata": ["Q1469637"]}
A number sign (#) is used with this entry because dilated cardiomyopathy-1S (CMD1S) is caused by heterozygous mutation in the MYH7 gene (160760) on chromosome 14q12. Mutation in the MYH7 gene has also been associated with left ventricular noncompaction (LVNC5), hypertrophic cardiomyopathy (CMH1; 192600), and myosin storage myopathy (608358). For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200); for a similar discussion of left ventricular noncompaction, see LVNC1 (604169). Clinical Features Kamisago et al. (2000) studied affected members of a large 4-generation family segregating autosomal dominant dilated cardiomyopathy (CMD). Seventeen family members had dilated cardiomyopathy without conduction system disease, skeletal muscle dysfunction, or other phenotypes. The authors noted that previous clinical studies of 12 affected individuals showed no evidence of ventricular hypertrophy. In many family members, the onset of disease occurred early in life: one patient was hospitalized with heart failure at 2 years of age; another developed heart failure followed by sudden death at 20 years of age; and another underwent cardiac transplantation for end-stage heart failure at 23 years of age. Histopathologic study of the explanted heart from the last patient showed mildly increased interstitial fibrosis without myocyte or myofibrillar disarray. ### Left Ventricular Noncompaction 5 Sasse-Klaassen et al. (2003) studied a family (designated 'INVM-101') segregating autosomal dominant left ventricular noncompaction (LVNC), in which there were 5 affected individuals over 2 generations. The proband underwent diagnostic evaluation because of inverted T waves seen on routine electrocardiogram at 60 years of age, and was found to have marked noncompaction confined to the left ventricular apex and an enlarged left ventricle with a left ventricle end-diastolic diameter (LVEDD) of 66 mm and reduced systolic function (left ventricle fractional shortening, 14%; left ventricle ejection fraction, 27%). Two asymptomatic daughters with LVNC were identified at 40 and 23 years of age, respectively. Sasse-Klaassen et al. (2003) also studied 2 brothers with LVNC ('family INVM-107'). The probands from both families were originally characterized by Oechslin et al. (2000). Klaassen et al. (2008) provided follow-up on families INVM-101 and INVM-107, stating that clinical evaluation of family 101 was remarkable for the very pronounced morphology of LVNC. The proband, who had suffered a stroke and systemic peripheral emboli, had an affected brother who initially presented with decompensated heart failure and pulmonary emboli; both patients remained stable over a period of 8 years. Other affected members of family INVM-101 fulfilled morphologic LVNC criteria but were clinically asymptomatic. The 4 affected individuals in family INVM-107 all had noncompaction involving the apex and mid-left ventricular wall, and the right ventricle was involved as well in 2 patients. The 25-year-old male proband, who had been diagnosed with LVNC after developing cardiogenic shock and pulmonary and systemic peripheral emboli, received a cardiac transplant at age 26 years. His 32-year-old affected brother also carried the mutation, as did their 65-year-old mother, who had typical LVNC morphology but remained clinically asymptomatic. The brother's son fulfilled criteria for LVNC at 2 years of age. Uro-Coste et al. (2009) studied a family in which the mother had myosin storage myopathy (608358) and later developed hypertrophic cardiomyopathy (CMH1; 192600), whereas the daughter had early symptomatic LVNC. The mother presented at age 30 years with proximal muscle weakness, which progressed to the point of her being wheelchair-bound by age 48 years. At age 51, hypertrophic cardiomyopathy was diagnosed; echocardiography revealed no atrial or ventricular dilatation, and no abnormal appearance of the ventricular walls. Skeletal muscle biopsy at age 53 years showed subsarcolemmal accumulation of hyaline material in type 1 fibers. Her 24-year-old daughter presented with heart failure at 3 months of age and was diagnosed with early-onset cardiomyopathy. Angiography revealed a less-contractile, irregular 'spongiotic' wall in the inferior left ventricle; on echocardiography, the left ventricle was dilated and fulfilled the criteria for LVNC, with a severely thickened, 2-layered myocardium and numerous prominent trabeculations and deep intertrabecular recesses. The daughter did not complain of muscle weakness, but clinical examination revealed bilateral wasting of the distal leg anterior compartment and she had some difficulty with heel-walking. Mapping In a large 4-generation family segregating autosomal dominant dilated cardiomyopathy (CMD), Kamisago et al. (2000) performed genomewide linkage analysis and obtained a maximum lod score of 5.11 on chromosome 14q11.2-q13 at D14S990. Haplotype analysis defined a 14-cM critical interval between D14S283 and D14S597. Molecular Genetics In a large 4-generation family segregating autosomal dominant dilated cardiomyopathy mapping to chromosome 14q11.2-q13, Kamisago et al. (2000) analyzed the candidate gene MYH7 (160760) and identified heterozygosity for a missense mutation (S532P; 160760.0022). In an unrelated family with CMD, in which a father and 2 daughters were affected, the authors identified a different heterozygous missense mutation (F764L; 160760.0023). In a series of 46 young patients with CMD, Daehmlow et al. (2002) screened 4 sarcomere genes and identified 2 probands with heterozygous missense mutations in the MYH7 gene: A223T (160760.0026) and S642L (160760.0027). The patients were diagnosed at ages 35 years and 18 years, respectively. Klaassen et al. (2008) analyzed 6 genes encoding sarcomere proteins in 63 unrelated adult probands with left ventricular noncompaction but no other congenital heart anomalies. They identified 7 different heterozygous mutations in the MYH7 gene in the probands from 4 families, 2 of which were previously studied by Sasse-Klaassen et al. (2003) (families INVM-101 and INVM-107), and in 4 sporadic patients, respectively (see, e.g., 160760.0040-160760.0042). Klaassen et al. (2008) stated that the most frequent symptom at presentation for patients with MYH7 mutations was dyspnea, followed by atypical chest pain and palpitations. LVNC was always present in the ventricular apex, and in all but 2 probands, the midventricular inferior and lateral walls were involved, whereas there was sparing of the basal left ventricular segments. Five of 8 probands had biventricular involvement. Left ventricular end-diastolic dimensions were enlarged and systolic function was impaired in 5 of 8 probands, and heart failure was present at initial diagnosis or occurred during follow-up in all but 2 probands. Stroke or pulmonary or systemic peripheral thromboemboli occurred in 4 of 8 probands. In a mother with myosin storage myopathy (608358) and hypertrophic cardiomyopathy (CMH1; 192600) and her daughter with early symptomatic LVNC, Uro-Coste et al. (2009) identified heterozygosity for an L1793P mutation in the MYH7 gene (160760.0037). In an analysis of the MYH7 gene in 141 white probands of western European descent diagnosed with Ebstein anomaly (see 224700), Postma et al. (2011) identified heterozygous mutations in 8 (see, e.g., 160760.0045 and 160760.0046). Of these 8 probands, LVNC was present in 7 and uncertain in 1, whereas none of the 133 mutation-negative probands had LVNC. Evaluation of all available family members of mutation-positive probands revealed 3 families in which additional mutation-positive individuals had cardiomyopathy or congenital heart malformations, including type II atrial septal defect, ventricular septal defect, bicuspid aortic valve, aortic coarctation, and pulmonary artery stenosis/hypoplasia. INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Left ventricular dilation \- Congestive heart failure \- Left ventricular noncompaction (in some patients) \- Ventricular arrhythmia (in some patients) \- Ebstein anomaly (in some patients) \- Tricuspid regurgitation (in some patients) \- Atrial septal defect, secundum type (in some patients) \- Bicuspid aortic valve (in some patients) \- Aortic coarctation (in some patients) Vascular \- Emboli, pulmonary (in some patients) \- Pulmonary artery hypoplasia (in some patients) MOLECULAR BASIS \- Caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (MYH7, 160760.0022 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	CARDIOMYOPATHY, DILATED, 1S	c0340427	30,431	omim	https://www.omim.org/entry/613426	2019-09-22T15:58:44	{"doid": ["0110454"], "mesh": ["C536231"], "omim": ["613426"], "orphanet": ["154", "54260"]}
## Clinical Features Kohlschutter et al. (1982) reported a case of partial alpha-ketoglutarate dehydrogenase deficiency in 2 sibs of a consanguineous Tunisian family. In addition to genetic defects of the tricarboxylic acid cycle, other mechanisms for recessively inherited congenital lactic acidosis include inborn errors of pyruvate metabolism and inborn errors of oxidative phosphorylation. Guffon et al. (1993) described a brother and sister, born to consanguineous Portuguese parents, with 2-ketoglutarate dehydrogenase deficiency. Axial hypotonia with no head control as late as age 4 years was described in both. Metabolic acidosis with acute episodes of acidotic decompensation and sometimes hypoglycemia occurred during infections. The sister died suddenly after a general anesthesia. Alpha-ketoglutarate dehydrogenase deficiency is sometimes a feature of DLD deficiency (DDLD; 246900). Misc \- Early childhood death Inheritance \- Autosomal recessive Neuro \- Hypotonia Lab \- Hyperlactatemia \- Alpha-ketoglutarate dehydrogenase deficiency Metabolic \- Metabolic acidosis \- Congenital lactic acidosis ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY	c2752074	30,432	omim	https://www.omim.org/entry/203740	2019-09-22T16:31:12	{"mesh": ["C536582"], "omim": ["203740"], "orphanet": ["31"], "synonyms": ["Alternative titles", "ALPHA-KGD DEFICIENCY", "2-KETOGLUTARATE DEHYDROGENASE DEFICIENCY", "OXOGLUTARIC ACIDURIA"]}
Diffusion tensor imaging of the brain showing the right and left arcuate fasciculus (Raf & Laf), the right and left superior longitudinal fasciculus (Rslf & Lslf), and tapetum of corpus callosum (Ta). Disconnection syndrome is a general term for a collection of neurological symptoms caused -- via lesions to associational or commissural nerve fibres \-- by damage to the white matter axons of communication pathways in the cerebrum (not to be confused with the cerebellum), independent of any lesions to the cortex.[1] The behavioral effects of such disconnections are relatively predictable in adults.[2] Disconnection syndromes usually reflect circumstances where regions A and B still have their functional specializations except in domains that depend on the interconnections between the two regions.[3] Callosal syndrome, or split-brain, is an example of a disconnection syndrome from damage to the corpus callosum between the two hemispheres of the brain. Disconnection syndrome can also lead to aphasia, left-sided apraxia, and tactile aphasia, among other symptoms. Other types of disconnection syndrome include conduction aphasia (lesion of the association tract connecting Broca’s area and Wernicke’s), agnosia, apraxia, pure alexia, etc.[4] ## Contents * 1 Anatomy of cerebral connections * 2 Hemispheric disconnection * 3 Sensorimotor disconnection * 4 History * 5 See also * 6 References ## Anatomy of cerebral connections[edit] Theodore Meynert, a neuroanatomist of the late 1800s, developed a detailed anatomy of white matter pathways. He classified the white matter fibers that connect the neocortex into three important categories – projection fibers, commissural fibers and association fibers. Projection fibers are the ascending and descending pathways to and from the neocortex. Commissural fibers are responsible for connecting the two hemispheres while the association fibers connect cortical regions within a hemisphere. These fibers make up the interhemispheric connections in the cortex.[4] Callosal disconnection syndrome is characterized by left ideomotor apraxia and left-hand agraphia and/or tactile anomia, and is relatively rare.[5] ## Hemispheric disconnection[edit] Many studies have shown that disconnection syndromes such as aphasia, agnosia, apraxia, pure alexia and many others are not caused by direct damage to functional neocortical regions. They can also be present on only one side of the body which is why these are categorized as hemispheric disconnections. The cause for hemispheric disconnection is if the interhemispheric fibers, as mentioned earlier, are cut or reduced. An example is commissural disconnect in adults which usually results from surgical intervention, tumor, or interruption of the blood supply to the corpus callosum or the immediately adjacent structures. Callosal disconnection syndrome is characterized by left ideomotor apraxia and left-hand agraphia and/or tactile anomia, and is relatively rare. Other examples include commissurotomy, the surgical cutting of cerebral commissures to treat epilepsy and callosal agenesis which is when individuals are born without a corpus callosum. Those with callosal agenesis can still perform interhemispheric comparisons of visual and tactile information but with deficits in processing complex information when performing the respective tasks.[6] ## Sensorimotor disconnection[edit] Hemispheric disconnection has impacted behaviors relating to the sensory and motor systems. The different systems affected are listed below: * Olfaction – The olfactory system is not crossed across hemispheres like the other senses, which means that left input goes to the left hemisphere and right input goes to the right hemisphere. Fibers in the anterior commissure control the olfactory regions in each hemisphere. A patient who lacks an anterior commissure cannot name odors entering the right nostril or use the right hand to pick up the object corresponding to the odor because the left hemisphere, responsible for language and controlling the right hand, is disconnected from the sensory information.[7] * Vision – Information from one visual field travels to the contralateral hemisphere. Therefore, with a commissurotomy patient, visual information presented in the left visual field travelling to the right hemisphere would be disconnected from verbal output since the left hemisphere is responsible for speech.[7] * Somatosensory – If the two hemispheres are disconnected, the somatosensory functions of the left and right parts of the body become independent. For example, when something is placed on the left hand of a blindfolded patient with the two hemispheres disconnected, the left hand can pick the correct object within a set of objects but the right hand cannot.[6] * Audition – Though most of the input from one ear would go through the same ear, the opposite ear also receives some input. Therefore, the disconnection effects seems to be reduced in audition compared to the other systems. However, studies have shown that when the hemispheres are disconnected, the individual does not hear anything from the left and only hears from the right.[6] * Movement – Apraxia and agraphia may occur where responding to any verbal instructions by movement or writing in the left hand is inhibited because the left hand cannot receive these instructions from the right hemisphere,[7] ## History[edit] The concept of disconnection syndrome emerged in the late nineteenth century when scientists became aware that certain neurological disorders result from communication problems among brain areas.[8] In 1874, Carl Wernicke introduced this concept in his dissertation when he suggested that conduction aphasia could result from the disconnection of the sensory speech zone from the motor speech area by a single lesion in the left hemisphere[2] to the arcuate fasciculus. As the father of the disconnection theory, Wernicke believed that instead of being localized in specific regions of the brain, higher functions resulted from associative connections between the motor and sensory memory areas. Lissauer, a pupil of Wernicke, described a case of visual agnosia as a disconnection between the visual and language areas.[9] Dejerine in 1892 described specific symptoms resulting from a lesion to the corpus callosum that caused alexia without agraphia. The patient had a lesion in the left occipital lobe, blocking sight in the right visual field (hemianopia), and in the splenium of the corpus callosum. Dejerine interpreted this case as a disconnection of the speech area in the left hemisphere from the right visual cortex. In 1965, Norman Geschwind, an American neurologist, wrote ‘Disconnexion syndromes in animals and man’ where he described a disconnectionist framework that revolutionized neurosciences and clinical neurology. Studies of the monkey brain led to his theory that disconnection syndromes were higher function deficits. Building on Wernicke and previously mentioned psychologists’ idea that disconnection syndromes involved white matter lesion to association tracts connecting two regions of the brain, Geschwind was more detailed in explaining some disconnection syndromes as lesions of the association cortex itself, specifically in the parietal lobe. He described the callosal syndrome, an example of a disconnection syndrome, which is a lesion in the corpus callosum that leads to tactile anomia in just the patient’s left hand.[4] Though Geschwind made significant advances in describing disconnection syndromes, he was not completely accurate. He didn’t think the association cortex had any specialized role of its own besides acting as a relay station between the primary sensory and motor areas. However, in the 1960s and 1970s, Mesulam and Damasio incorporated specific functional roles for the association cortex. With Mesulam and Damasio’s contributions, Geschwind’s model has evolved over the past 50 years to include connections between brain regions as well as specializations of association cortices.[4] More recently, neurologists have been using imaging techniques such as diffusion tensor imaging (DTI) and functional magnetic resonance imaging (fMRI) to visualize association pathways in the human brain to advance the future of this disconnection theme.[10] ## See also[edit] * Functional disconnection ## References[edit] 1. ^ David Myland Kaufman (2007). Clinical Neurology for Psychiatrists. Elsevier Health Sciences. pp. 171–. ISBN 978-1-4160-3074-4. Retrieved 4 August 2013. 2. ^ a b Otfried Spreen; Anthony H. Risser; Dorothy Edgell (1995). Developmental Neuropsychology. Oxford University Press. pp. 156–. ISBN 978-0-19-506737-8. Retrieved 4 August 2013. 3. ^ Catani, Marco; Mesulam, Marsel (2008-09-01). "What is a disconnection syndrome?". Cortex. Special Issue on "Brain Hodology - Revisiting disconnection approaches to disorders of cognitive function". 44 (8): 911–913. doi:10.1016/j.cortex.2008.05.001. PMID 18603236. 4. ^ a b c d Catani, Marco (2005). "The rises and falls of disconnection syndromes" (PDF). Brain. 128 (Pt 10): 2224–2239. doi:10.1093/brain/awh622. PMID 16141282. Retrieved 2016-04-27. 5. ^ Stroke: Clinical manifestations and pathogenesis. Elsevier Health Sciences. 2009. pp. 429–. ISBN 978-0-444-52004-3. Retrieved 4 August 2013. 6. ^ a b c Schummer, Gary (2009). "The Disconnection Syndrome" (PDF). Biofeedback. Archived from the original (PDF) on 2015-09-07. Retrieved 2016-04-27. 7. ^ a b c Kolb and Whishaw, Bryan and Ian (2009). Fundamentals of Human Neuropsychology. New York: Worth Publishers. ISBN 978-0716795865. 8. ^ Robert Melillo (6 January 2009). Disconnected Kids: The Groundbreaking Brain Balance Program for Children with Autism, ADHD, Dyslexia, and Other Neurological Disorders. Penguin Group US. pp. 14–. ISBN 978-1-101-01481-3. Retrieved 4 August 2013. 9. ^ Daria Riva; Charles Njiokiktjien; Sara Bulgheroni (1 January 2011). Brain Lesion Localization and developmental Functions : Frontal lobes, Limbic system, Visuocognitive system. John Libbey Eurotext. pp. 3–. ISBN 978-2-7420-0825-4. Retrieved 4 August 2013. 10. ^ Molko, N.; Cohen, L.; Mangin, J. F.; Chochon, F.; Lehéricy, S.; Le Bihan, D.; Dehaene, S. (2002-05-15). "Visualizing the neural bases of a disconnection syndrome with diffusion tensor imaging". Journal of Cognitive Neuroscience. 14 (4): 629–636. doi:10.1162/08989290260045864. ISSN 0898-929X. PMID 12126503. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Disconnection syndrome	None	30,433	wikipedia	https://en.wikipedia.org/wiki/Disconnection_syndrome	2021-01-18T19:08:53	{"wikidata": ["Q17144277"]}
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. ## Epidemiology The worldwide prevalence at birth is estimated at 1/4,500-1/10,000. ## Clinical description 22q11.2 deletion syndrome shows a variable clinical phenotype that can range from mild to severe. Congenital heart defects (two-thirds of cases) include mainly conotruncal malformations such as ventricular septal defect, truncus arteriosus, tetralogy of Fallot and interrupted aortic arch. Anomalies of the aortic arch and vascular ring are frequent. More than 65% of patients present with palatal anomalies (e.g. velopharyngeal incompetence, submucous cleft palate or bifid uvula) that may lead to hypernasal speech and feeding difficulties. Overt cleft palate and cleft lip are less frequent. Most patients display subtle but recognizable facial features (e.g. ptosis, hypertelorism, epicanthal folds, prominent nasal root, malar flatness, small ears). Immune deficiency is the consequence of thymic aplasia/hypoplasia and improvement in T-cell production occurs over time. Patients have a higher risk of developing an autoimmune disease such as idiopathic thrombocytopenic purpura and juvenile idiopathic arthritis. Hypocalcemia as a consequence of hypoparathyroidism is frequent in the neonatal period and usually resolves but can reappear at any age. Additional clinical findings may include gastrointestinal anomalies (intestinal malrotation, imperforate anus), hearing loss, renal anomalies (renal agenesis), dental anomalies (enamel hypoplasia), and skeletal anomalies (scoliosis, clubfoot). Learning difficulties and developmental delay are almost always present. Psychiatric illness (anxiety, depression, schizophrenia) and Parkinson's disease are more frequent than in the general population. ## Etiology In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. The deletion is due to a non-allelic meiotic recombination during spermatogenesis or oogenesis. In ~15% of cases, the deletion is nested within the 3 Mb DiGeorge critical region and varies in size. Most deletions include the TBX1 gene that has been shown to be implicated in cardiac, parathyroid, thymus and facial structure development. The variable expression of the 22q11.2 phenotype is thought to be due to genetic modifiers on either the other 22q11.2 allele or on other chromosomes. ## Diagnostic methods Diagnosis is suspected upon clinical examination and confirmed by detection of the 22q11.2 deletion, using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (aCGH) or genome-wide SNP (single nucleotide polymorphism) microarrays. ## Differential diagnosis Differential diagnosis includes Smith-Lemli-Opitz syndrome, CHARGE syndrome, Alagille syndrome, VATER syndrome, Goldenhar syndrome and isotretinoin embryopathy. ## Antenatal diagnosis Prenatal diagnosis is possible in familial cases by chorionic villus sampling or amniocentesis, and in pregnancies where associated anomalies have been noted by fetal echocardiography. Preimplantation genetic diagnosis is possible. ## Genetic counseling The deletion arises de novo in ~90% of the cases. The recurrence risk in the sibship of a de novo case is 2-3% due to of low-grade germline parental mosaicism. Affected individuals have a 50% risk of having an affected child. ## Management and treatment Management is symptom-based and requires a multidisciplinary approach. It may consist of heart and/or palate surgery, nasogastric feeding, calcium supplementation, occupational, physical, and speech therapy, educational and behavioral therapy, as well as support and treatment for psychiatric disease. Tonsillectomy is not recommended unless indicated by a center of expertise. A regular surveillance of calcium, thyroid function and blood cell count is necessary. Immune function must be evaluated before administering live vaccines. ## Prognosis The prognosis is variable and depends on the severity of the disease. The infant mortality rate is relatively low (~4%); in adults mortality is higher than that of the rest of the adult population. Most congenital malformations and medical problems can be managed. Prognosis in adults depends on the degree of autonomy. * European Reference Network [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	22q11.2 deletion syndrome	c0012236	30,434	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=567	2021-01-23T19:10:05	{"gard": ["10299"], "mesh": ["D004062", "D058165"], "omim": ["188400", "192430"], "umls": ["C0012236", "C0220704", "C0431406", "C0795907", "C2936346", "C3266101"], "icd-10": ["D82.1"], "synonyms": ["22q11DS", "CATCH 22", "Cayler cardiofacial syndrome", "Conotruncal anomaly face syndrome", "DiGeorge sequence", "DiGeorge syndrome", "Microdeletion 22q11.2", "Monosomy 22q11", "Sedlackova syndrome", "Shprintzen syndrome", "Takao syndrome", "Velocardiofacial syndrome"]}
A number sign (#) is used with this entry because of evidence that Sturge-Weber syndrome can be caused by somatic mosaic mutation in the GNAQ gene (600998) on chromosome 9q21. Nonsyndromic port-wine stains (CMC; 163000) are also caused by somatic mosaic mutation in the GNAQ gene. Description Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004). Clinical Features The Klippel-Trenaunay-Weber syndrome (149000) is sometimes associated with SWS (see Bonse, 1951 and Nonnenmacher, 1955). Debicka and Adamczak (1979) described Sturge-Weber syndrome in father and son, both of whom had, in addition to trigeminal angiomatous nevi, evidence of central nervous system involvement. The son had congenital glaucoma and the father had simple glaucoma. All manifestations were more pronounced in the son. Sujansky and Conradi (1995) reviewed the outcome in 52 adults, aged 18 to 63 years, ascertained through the Sturge-Weber Foundation, and surveyed by written questionnaires, telephone interviews, and review of medical records. The distribution of port-wine stains (cranial 98%, extracranial 52%) and the prevalence of glaucoma (60%), seizures (83%), neurologic deficit (65%), and other complications were established. The age of onset of glaucoma varied from birth to 41 years and the age of onset of seizures from birth to 23 years. In those with and those without seizures, the prevalence of developmental delay (43% vs 0%), emotional and behavioral problems (85% vs 58%), special education requirements (71% vs 0%), and employability (46% vs 48%) was determined. Overall, 39% were financially self sufficient. Ten participants produced 20 liveborn offspring; 17 were healthy, and tuberous sclerosis, a cafe-au-lait spot, and a 'birthmark' were found in 1 child each. Griffiths et al. (1996) found enlargement of the choroid plexus in the hemisphere affected with SWS in an MRI study of 15 children. Another ocular manifestation of SWS is circumscribed choroidal hemangioma (CCH). Porrini et al. (2003) found that photodynamic therapy in 10 SWS patients with symptomatic CCH of the posterior pole resulted in improved visual acuity in all. Quigg et al. (2006) presented photographs and brain images of an infant with SWS. The patient had a bilateral ophthalmologic port-wine stain in the trigeminal distribution and an extracranial nevus on the chest. Bilateral or more lower facial involvement occurs in 15% of patients with SWS. Head radiograph showed gyral calcifications of a subarachnoid angioma across most of the right hemisphere. Quigg et al. (2006) noted that leptomeningeal involvement often leads to hemiparesis, mental retardation, and epilepsy. Among 21 children aged 18 months to 10 years with SWS and unilateral cerebral hemispheric involvement, Juhasz et al. (2007) found a significant correlation between decreased white matter volume in the affected hemisphere and cognitive decline. There was no correlation with gray matter volume. The authors hypothesized that white matter abnormalities in SWS may be due to hypoxic injury secondary to impaired venous drainage. Cognitive impairment was not related to seizures. Hall et al. (2007) reported 6 patients with phakomatosis pigmentovascularis type II, consisting of nevus flammeus and mongolian spots; 2 patients were diagnosed with Klippel-Trenaunay syndrome, and 3 had features consistent with both Klippel-Trenaunay and Sturge-Weber syndromes. There were 4 patients with macrocephaly and 1 with microcephaly; 4 patients had CNS abnormalities, including 3 with hydrocephalus, 1 with Arnold-Chiari malformation, and 1 with polymicrogyria; 3 patients had mental retardation; and 1 patient had seizures. Hall et al. (2007) suggested that in the presence of persistent, extensive, and aberrant mongolian spots, the vascular abnormalities of Klippel-Trenaunay and Sturge-Weber syndromes carry a worse prognosis. Biochemical Features Using PET scans to correlate cortical glucose hypometabolism with clinical features in 13 children with unilateral cerebral SWS, Lee et al. (2001) found that the extent and degree of glucose asymmetry were sensitive markers of seizure severity and cognitive decline. Both seizure frequency and lifetime number of seizures showed a positive correlation with area of mildly asymmetric cortical hypometabolism, suggesting a nociferous effect on the remainder of the brain. Patients with a higher IQ had a larger area of severely asymmetric cortical metabolism, suggesting early functional reorganization. Pathogenesis Tyzio et al. (2009) reported the histopathologic findings of brain tissue derived from 4 pediatric SWS patients who underwent surgical hemispherectomy for refractory epilepsy at a mean age of 10.5 months. There were changes in cortical layering, with neuronal degeneration and loss, with many neurons containing perinuclear chromatin aggregates and nuclear condensation. Gray matter contained irregular vascular dilatations and calcifications. Neurons had small soma and dendrites that were tiny and poorly branched, reflecting a reduced degree of neuronal maturation. These findings were consistent with an ischemic/hypoxic process. Electrophysiologic studies showed that neurons had spontaneous activity and a more depolarized resting membrane potential, indicative of increased excitability. Studies of GABA channels indicated that they had an inhibitory and anticonvulsive effect on SWS neurons. Inheritance Unlike the other phacomatoses, including tuberous sclerosis (see 191100), neurofibromatosis (see 162200), and von Hippel-Lindau disease (193300), no clear evidence of heredity has been discovered in SWS. Happle (1987) suggested that somatic mosaicism underlies the pathogenesis of lesions in SWS and certain other disorders. In 4 patients with SWS, Huq et al. (2002) compared the chromosomes in cells from affected areas with those from unaffected areas. In 1 patient, a paracentric inversion of chromosome 4q was present in 40% of cells cultured from leptomeningeal angiomatosis, but the inversion was not present in cells cultured from the patient's blood. In a second patient, approximately 50% of cells from a port-wine stain showed trisomy 10, whereas this abnormality was not present in the patient's blood or normal skin. Comi et al. (2003) compared fibronectin gene and protein expression from port-wine-derived fibroblasts compared with that from normal skin-derived fibroblasts of 4 individuals with SWS. The gene expression of fibronectin was significantly increased in the SWS port-wine-derived fibroblasts compared with that of fibroblasts from SWS normal skin. Comi et al. (2003) concluded that the reproducible differences in fibronectin gene expression between the 2 sets of fibroblasts are consistent with the presence of a hypothesized somatic mutation underlying SWS. Molecular Genetics Shirley et al. (2013) performed whole-genome sequencing of DNA from paired samples of visibly affected and normal tissue from 3 SWS patients and identified 1 nonsynonymous somatic single-nucleotide variant in the GNAQ gene (R183Q; 600998.0001) that was present in all 3 affected samples and was not present in the normal-appearing samples. Screening of additional SWS patients as well as individuals with nonsyndromic port-wine stains (163000) revealed that all 9 SWS patients were positive for the R183Q mutation in port-wine-stained skin, 6 (86%) of 7 participants with SWS were negative for the mutation in visibly normal skin, and 12 (92%) of 13 participants with nonsyndromic port-wine stains were positive for the mutation. The mutation was also detected in brain samples from 15 (83%) of 18 SWS patients, whereas all 6 brain samples from normal controls were negative. Overall, 23 (88%) of 26 SWS patients were positive for the gain-of-function R183Q mutation in either port-wine-stained skin or brain tissue. Shirley et al. (2013) suggested that nonsyndromic port-wine stains may represent a late origin of the somatic GNAQ mutation in vascular endothelial cells, whereas in Sturge-Weber syndrome, the mutation may occur earlier in development, in progenitor cells that are precursors to a larger variety of cell types and tissues, leading to the syndromic phenotype. Five (0.7%) of 669 samples from the 1000 Genomes database were positive for R183Q; noting that the reported prevalence of port-wine stains is 0.3% to 0.5%, Shirley et al. (2013) hypothesized that the 0.7% prevalence in that database represented the occurrence of port-wine stains in the population. INHERITANCE \- Somatic mosaic HEAD & NECK Head \- Macrocephaly Face \- Facial hemangiomata Eyes \- Choroidal hemangiomata \- Glaucoma \- Buphthalmos SKIN, NAILS, & HAIR Skin \- Hemangiomata in at least first branch (ophthalmic) of trigeminal nerve distribution, unilateral, occasionally bilateral NEUROLOGIC Central Nervous System \- Arachnoid hemangiomata \- Cerebral cortical atrophy \- Mental retardation \- Seizures \- 'Double contour' convolutional calcification on CT scan MOLECULAR BASIS \- Caused by somatic mosaic mutation in the guanine nucleotide-binding protein q gene (GNAQ, 600998.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	STURGE-WEBER SYNDROME	c0038505	30,435	omim	https://www.omim.org/entry/185300	2019-09-22T16:34:05	{"mesh": ["D013341"], "omim": ["185300"], "icd-10": ["Q85.8"], "orphanet": ["3205"]}
Chorea-acanthocytosis is one of a group of conditions called the neuroacanthocytoses that involve neurological problems and abnormal red blood cells. The condition is characterized by involuntary jerking movements (chorea), abnormal star-shaped red blood cells (acanthocytosis), and involuntary tensing of various muscles (dystonia), such as those in the limbs, face, mouth, tongue, and throat. Chorea-acanthocytosis is caused by mutations in the VPS13A gene and is inherited in an autosomal recessive manner. There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Chorea-acanthocytosis	c0393576	30,436	gard	https://rarediseases.info.nih.gov/diseases/3956/chorea-acanthocytosis	2021-01-18T18:01:27	{"mesh": ["D054546"], "omim": ["200150"], "umls": ["C0393576"], "orphanet": ["2388"], "synonyms": ["Acanthocytosis with neurologic disorder", "ChAc", "Choreoacanthocytosis", "Chorea acanthocytosis"]}
Particular type of attention disorder Sluggish cognitive tempo SpecialtyPsychology Sluggish cognitive tempo (SCT) is a syndrome related to attention deficit hyperactivity disorder (ADHD) but distinct from it. Typical symptoms include prominent dreaminess, mental fogginess, hypoactivity, sluggishness, staring frequently, inconsistent alertness and a slow working speed. SCT has been a subject of controversy for decades and debate about its nature still continues.[1] But it is clear now that this set of symptoms is important because it independently has a negative impact on functioning (such as a diminished quality of life,[2] increased stress and suicidal behaviour,[3] as well as lower educational attainment and socioeconomic status[4]). The SCT symptoms are clinically relevant as they seem linked to a poor treatment response to methylphenidate.[5] Originally, SCT was thought to occur only in about one in three persons with the inattentive subtype of ADHD,[6] and to be incompatible with hyperactivity. But new studies found it also in some people with the other two ADHD subtypes – and in individuals without ADHD as well. Therefore, some psychologists and psychiatrists view it as a separate mental disorder. Others dismiss it altogether or believe it is a distinct symptom group within ADHD (like Hyperactivity, Impulsivity or Inattention). It even may be useful as an overarching concept that cuts across different psychiatric disorders (much like emotional dysregulation, for example).[7] If SCT and ADHD occur together, the problems add up: Compared to those with ADHD alone, adults with the combination of both were more likely to be unmarried, out of work or on disability. But SCT alone is also present in the population and can be quite impairing in educational and occupational settings, even if it is not as pervasively impairing as ADHD.[8] Some have encouraged the use of the term concentration deficit disorder (CDD) for SCT because it may be more appropriate and less derogatory.[8] ## Contents * 1 Signs and symptoms * 1.1 Social behaviour * 1.2 Attention deficits * 1.3 Executive function * 2 Causes * 3 Diagnosis * 4 Treatment * 5 Prognosis * 6 Epidemiology * 7 History * 7.1 Early observations * 7.2 First research efforts * 8 Controversy * 9 See also * 10 References * 11 External links ## Signs and symptoms[edit] ADHD is the only disorder of attention currently defined by the DSM-5 or ICD-10. Formal diagnosis is made by a qualified professional. It includes demonstrating six or more of the following symptoms of inattention or hyperactivity-impulsivity (or both).[9][10] ADHD symptoms (DSM-5) Inattention Hyperactivity-Impulsivity * gives no close attention to details * has trouble holding attention on tasks * appears to not listen when spoken to directly * not following through on instructions * has trouble organizing tasks * avoids tasks requiring long mental effort * loses things necessary for tasks * easily distracted * forgetful in daily activities * fidgets or squirms * leaves seat inappropriately * runs or climbs inappropriately * unable to play quietly * "on the go" or "driven by a motor" * talks excessively * blurts out answers too early * has trouble waiting their turn * interrupts or intrudes on others The symptoms must also * be age inappropriate, * start before age 12, * occur often and be present in at least two settings, * clearly interfere with social, school, or work functioning, * and not be better explained by another mental disorder. Based on the above symptoms, three types of ADHD are defined: * a predominantly inattentive presentation (ADHD-I) * a predominantly hyperactive-impulsive presentation (ADHD-HI) * a combined presentation (ADHD-C) SCT is proposed to be similar to the predominantly inattentive presentation (ADHD-I), but can be distinguished from it by the following symptoms:[11][12][4] SCT symptoms (preliminary research criteria) * Prone to daydreaming * Easily confused or mentally foggy * Spacey or inattentive to surroundings * Mind seems to be elsewhere * Stares blankly into space * Underactive, slow moving or sluggish * Lethargic or less energetic * Trouble staying awake or alert * Has drowsy or sleepy appearance * Gets lost in own thoughts * Apathetic or withdrawn, less engaged in activities * Loses train of thought or cognitive set * Processes information not as quickly or accurately As a comparison of both tables shows, there is no overlap between the official ADHD inattention symptoms and the SCT symptoms. That means that both symptom clusters do not refer to the same attention problems. They may exist in parallel within the same person but do also occur alone. However, one problem is still that some individuals who actually have SCT are currently misdiagnosed with the inattentive presentation.[4] ### Social behaviour[edit] In many ways, those who have an SCT profile have some of the opposite symptoms of those with classic ADHD: instead of being hyperactive, extroverted, obtrusive, excessively energetic and risk takers, those with SCT are drifting, absent-minded, listless, introspective and daydreamy. They feel like they are "in the fog" and seem "out of it".[13] The comorbid psychiatric problems often associated with SCT are more often of the internalizing types, such as anxiety, unhappiness or depression.[6] Most consistent across studies was a pattern of reticence and social withdrawal in interactions with peers. Their typically shy nature and slow response time has often been misinterpreted as aloofness or disinterest by others. In social group interactions, those with SCT may be ignored. People with classic ADHD are more likely to be rejected in these situations, because of their social intrusiveness or aggressive behavior. Compared to children with SCT, they are also much more likely to show antisocial behaviours like substance abuse, oppositional-defiant disorder or conduct disorder (frequent lying, stealing, fighting etc.).[8] Fittingly, in terms of personality, ADHD seems to be associated with sensitivity to reward and fun seeking while SCT may be associated with punishment sensitivity.[14][8] ### Attention deficits[edit] Individuals with SCT symptoms may show a qualitatively different kind of attention deficit that is more typical of a true information processing problem; such as poor focusing of attention on details or the capacity to distinguish important from unimportant information rapidly. In contrast, people with ADHD have more difficulties with persistence of attention and action toward goals coupled with impaired resistance to responding to distractions. Unlike SCT, those with classic ADHD have problems with inhibition but have no difficulty selecting and filtering sensory input.[15][8] Some think that SCT and ADHD produce different kinds of inattention: While those with ADHD can engage their attention but fail to sustain it over time, people with SCT seem to have difficulty with engaging their attention to a specific task.[16][17] Accordingly, the ability to orient attention has been found to be abnormal in SCT.[18] Both disorders interfere significantly with academic performance but may do so by different means. SCT may be more problematic with the accuracy of the work a child does in school and lead to making more errors. Conversely, ADHD may more adversely affect productivity which represents the amount of work done in a particular time interval. Children with SCT seem to have more difficulty with consistently remembering things that were previously learned and make more mistakes on memory retrieval tests than do children with ADHD. They have been found to perform much worse on psychological tests involving perceptual-motor speed or hand-eye coordination and speed. They also have a more disorganized thought process, a greater degree of sloppiness, and lose things more easily. The risk for additional learning disabilities seems equal in both ADHD and SCT (23–50%) but math disorders may be more frequent in the SCT-group.[13] A key behavioral characteristic of those with SCT symptoms is that they are more likely to appear to be lacking motivation and may even have an unusually higher frequency of daytime sleepiness.[19] They seem to lack energy to deal with mundane tasks and will consequently seek to concentrate on things that are mentally stimulating perhaps because of their underaroused state. Alternatively, SCT may involve a pathological form of excessive mind-wandering.[8] ### Executive function[edit] The executive system of the human brain provides for the cross-temporal organization of behavior towards goals and the future and coordinates actions and strategies for everyday goal-directed tasks. Essentially, this system permits humans to self-regulate their behavior so as to sustain action and problem solving toward goals specifically and the future more generally. Dysexecutive syndrome is defined as a "cluster of impairments generally associated with damage to the frontal lobes of the brain" which includes "difficulties with high-level tasks such as planning, organising, initiating, monitoring and adapting behaviour".[20] Such executive deficits pose serious problems for a person's ability to engage in self-regulation over time to attain their goals and anticipate and prepare for the future. Adele Diamond postulated that the core cognitive deficit of those with ADHD-I is working memory, or, as she coined in her recent paper on the subject, "childhood-onset dysexecutive syndrome".[21] However, two more recent studies by Barkley found that while children and adults with SCT had some deficits in executive functions (EF) in everyday life activities, they were primarily of far less magnitude and largely centered around problems with self-organization and problem-solving. Even then, analyses showed that most of the difficulties with EF deficits were the result of overlapping ADHD symptoms that may co-exist with SCT rather than being attributable to SCT itself. More research on the link of SCT to EF deficits is clearly indicated—but, as of this time, SCT does not seem to be as strongly associated with EF deficits as is ADHD.[8] ## Causes[edit] Unlike ADHD, the general causes of SCT symptoms are almost unknown, though one recent study of twins suggested that the condition appears to be nearly as heritable or genetically influenced in nature as ADHD.[22] That is to say that the majority of differences among individuals in these traits in the population may be due mostly to variation in their genes. The heritability of SCT symptoms in that study was only slightly lower than that for ADHD symptoms with a somewhat greater share of trait variation being due to unique environmental events. For instance, in ADHD, the genetic contribution to individual differences in ADHD traits typically averages between 75 and 80% and may even be as high as 90%+ in some studies. That for SCT may be 50–60%. Little is known about the neurobiology of SCT. But the SCT symptoms seem to indicate that the posterior attention networks may be more involved here than the prefrontal cortex region of the brain and difficulties with working memory so prominent in ADHD. This hypothesis gained greater support following a 2015 neuroimaging study comparing ADHD inattentive symptoms and SCT symptoms in adolescents: It found that SCT was associated with a decreased activity in the left superior parietal lobule (SPL), whereas inattentive symptoms were associated with other differences in activation.[23] A 2018 study showed an association between SCT and specific parts of the frontal lobes, differing from classical ADHD neuroanatomy.[24] Recently a study showed a small link between thyroid functioning and SCT symptoms suggesting that thyroid dysfunction is not the cause of SCT. High rates of SCT were observed in children who had suffered prenatal alcohol exposure and in survivors of acute lymphoblastic leukemia, where they were associated with cognitive late effects.[25][26][27] ## Diagnosis[edit] SCT is currently not an official diagnosis in DSM-5 and no universally accepted set of symptoms exists yet. But there are rating scales that can be used to screen for SCT symptoms such as the Concentration Inventory (for children and adults) or the Barkley Sluggish Cognitive Tempo Scale-Children and Adolescents (BSCTS-CA).[28][12] The Comprehensive Behaviour Rating Scale for Children (CBRSC), an older scale, can also be used for SCT as this case study shows.[29] Additional requirements for a proposed SCT diagnosis (such as the number and duration of symptoms or the impact on functioning) are continuing to be investigated. Although having no diagnostic code either, ICD-10 mentions the SCT group as a reason for why it did not replace the term "Hyperkinetic Disorder" with "ADHD".[30] Other mental disorders may produce similar symptoms to SCT (e.g. excessive daydreaming or "staring blankly") and should not be confused with it. Examples might be conditions like depersonalization disorder, dysthymia, thyroid problems,[25] absence seizures, Bipolar II disorder, Kleine–Levin syndrome, forms of autism or schizoid personality disorder.[31] However, the prevalence of SCT in these clinical populations has yet to be empirically and systematically investigated. ## Treatment[edit] Treatment of SCT has not been well investigated. Initial drug studies were done only with the ADHD medication methylphenidate (e.g. Ritalin®), and even then only with children who were diagnosed as ADD without hyperactivity (using DSM-III criteria) and not specifically for SCT. The research seems to have found that most children with ADD with Hyperactivity (currently ADHD combined type) responded well at medium-to-high doses.[21] However, a sizable percentage of children with ADD without hyperactivity (currently ADHD inattentive type, therefore the results may apply to SCT) did not gain much benefit from methylphenidate, and when they did benefit, it was at a much lower dose.[32] However, one study and a retrospective analysis of medical histories found that the presence or absence of SCT symptoms made no difference in response to methylphenidate in children with ADHD-I.[33][8] But these studies did not specifically and explicitly examine the effect of the drug on SCT symptoms in children. The medication studies who did this found atomoxetine (Strattera) to have significant beneficial effects that were independent of ADHD symptoms[34] and a poor response for methylphenidate.[5] Only one study has investigated the use of behavior modification methods at home and school for children with predominantly SCT symptoms and it found good success.[35] In April 2014, The New York Times reported that sluggish cognitive tempo is the subject of pharmaceutical company clinical drug trials, including ones by Eli Lilly that proposed that one of its biggest-selling drugs, Strattera, could be prescribed to treat proposed symptoms of sluggish cognitive tempo.[36] Other researchers believe that there is no effective treatment for SCT.[1] ## Prognosis[edit] The prognosis of SCT is unknown. In contrast, much is known about the adolescent and adult outcomes of children having ADHD. Those with SCT symptoms typically show a later onset of their symptoms than do those with ADHD, perhaps by as much as a year or two later on average. They have as much or more difficulty with academic tasks and far fewer social difficulties than do people having ADHD. They do not have the same risks for oppositional defiant disorder, conduct disorder, or social aggression and thus may have different life course outcomes compared to children with ADHD-HI and Combined subtypes who have far higher risks for these other "externalizing" disorders.[8] However, unlike ADHD, there are no longitudinal studies of children with SCT that can shed light on the developmental course and adolescent or adult outcomes of these individuals. ## Epidemiology[edit] Recent studies indicate that the symptoms of SCT in children form two dimensions: daydreamy-spacey and sluggish-lethargic, and that the former are more distinctive of the disorder from ADHD than the latter.[37][38] This same pattern was recently found in the first study of adults with SCT by Barkley and also in more recent studies of college students.[8] These studies indicated that SCT is probably not a subtype of ADHD but a distinct disorder from it. Yet it is one that overlaps with ADHD in 30–50% of cases of each disorder, suggesting a pattern of comorbidity between two related disorders rather than subtypes of the same disorder. Nevertheless, SCT is strongly correlated with ADHD inattentive and combined subtypes.[37] According to a Norwegian study, "SCT correlated significantly with inattentiveness, regardless of the subtype of ADHD."[39] ## History[edit] See also: History of attention deficit hyperactivity disorder ### Early observations[edit] Johnny Head-in-Air is an absent-minded boy who seems unaware of his surroundings. There have been descriptions in literature for centuries of children who are very inattentive and prone to foggy thought. Symptoms similar to ADHD were first systematically described in 1775 by Melchior Adam Weikard and in 1798 by Alexander Crichton in their medical textbooks. Although Weikard mainly described a single disorder of attention resembling the hyperactive-impulsive subtype of ADHD, Crichton postulates an additional attention disorder, described as a "morbid diminution of its power or energy", and further explores possible "corporeal" and "mental" causes for the disorder (including "irregularities in diet, excessive evacuations, and the abuse of corporeal desires"). However, he does not further describe any symptoms of the disorder, making this an early but certainly non-specific reference to an SCT-like syndrome.[40][8] One example from fictional literature is Heinrich Hoffmann's character of "Johnny Head-in-Air" (Hanns Guck-in-die-Luft), in Struwwelpeter (1845). (Some researchers see several characters in this book as showing signs of child psychiatric disorders).[41] The Canadian pediatrician Guy Falardeau, besides working with hyperactive children, also wrote about very dreamy, quiet and well-behaved children that he encountered in his practice.[42] ### First research efforts[edit] In more modern times, research surrounding attention disorders has traditionally focused on hyperactive symptoms, but began to newly address inattentive symptoms in the 1970s. Influenced by this research, the DSM-III (1980) allowed for the first time a diagnosis of an ADD subtype that presented without hyperactivity. Researchers exploring this subtype created rating scales for children which included questions regarding symptoms such as short attention span, distractibility, drowsiness, and passivity.[7] In the mid 1980s, it was proposed that as opposed to the then accepted dichotomy of ADD with or without hyperactivity (ADD/H, ADD/noH), instead a three factor model of ADD was more appropriate, consisting of hyperactivity-impulsivity, inattention-disorganization, and slow tempo subtypes.[43] In the 1990s, Weinberg and Brumback proposed a new disorder: "primary disorder of vigilance" (PVD). Characteristic symptoms of it were difficulty sustaining alertness and arousal, daydreaming, difficulty focusing attention, losing one's place in activities and conversation, slow completion of tasks and a kind personality. The most detailed case report in their article looks like a prototypical representation of SCT. The authors acknowledged an overlap of PVD and ADHD but argued in favor of considering PVD to be distinct in its unique cognitive impairments.[44][45] Problematic with the paper is that it dismissed ADHD as a nonexistent disorder (despite it having several thousand research studies by then) and preferred the term PVD for this SCT-like symptom complex. A further difficulty with the PVD diagnosis is that not only is it based merely on 6 cases instead of the far larger samples of SCT children used in other studies but the very term implies that science has established the underlying cognitive deficits giving rise to SCT symptoms, and this is hardly the case.[8] With the publication of DSM-IV in 1994, the disorder was labeled as ADHD, and was divided into three subtypes: predominantly inattentive, predominantly hyperactive-impulsive, and combined. Of the proposed SCT specific symptoms discussed while developing the DSM-IV, only "forgetfulness" was included in the symptom list for ADHD-I, and no others were mentioned. However, several of the proposed SCT symptoms were included in the diagnosis of "ADHD, not otherwise specified".[7] Prior to 2001, there were a total of four scientific journal articles specifically addressing symptoms of SCT. But then a researcher suggested that sluggish tempo symptoms (such as inconsistent alertness and orientation) were, in fact, adequate for the diagnosis of ADHD-I. Thus, he argued, their exclusion from DSM-IV was inappropriate.[46] The research article and its accompanying commentary urging the undertaking of more research on SCT spurred the publication of over 30 scientific journal articles to date which specifically address symptoms of SCT.[7] However, with the publication of DSM-5 in 2013, ADHD continues to be classified as predominantly inattentive, predominantly hyperactive-impulsive, and combined type and there continues to be no mention of SCT as a diagnosis or a diagnosis subtype anywhere in the manual. The diagnosis of "ADHD, not otherwise specified" also no longer includes any mention of SCT symptoms.[9] Similarly, ICD-10, the medical diagnostic manual, has no diagnosis code for SCT. Although SCT is not recognized as a disorder at this point, researchers continue to debate its usefulness as a construct and its implications for further attention disorder research.[7] ## Controversy[edit] Significant skepticism has been raised within the medical and scientific communities as to whether SCT, currently considered a "symptom cluster," actually exists as a distinct disorder.[36] Dr. Allen Frances, an emeritus professor of psychiatry at Duke University, has commented "We're seeing a fad in evolution: Just as ADHD has been the diagnosis du jour for 15 years or so, this is the beginning of another. This is a public health experiment on millions of kids...I have no doubt there are kids who meet the criteria for this thing, but nothing is more irrelevant. The enthusiasts here are thinking of missed patients. What about the mislabeled kids who are called patients when there’s nothing wrong with them? They are not considering what is happening in the real world."[36] UCLA researcher and Journal of Abnormal Child Psychology editorial board member Steve S. Lee has also expressed concern based on SCT's close relationship to ADHD, cautioning that a pattern of over-diagnosis of the latter has "already grown to encompass too many children with common youthful behavior, or whose problems are derived not from a neurological disorder but from inadequate sleep, a different learning disability or other sources." Lee states, "The scientist part of me says we need to pursue knowledge, but we know that people will start saying their kids have [sluggish cognitive tempo], and doctors will start diagnosing it and prescribing for it long before we know whether it’s real...ADHD has become a public health, societal question, and it’s a fair question to ask of SCT."[36] Adding to the controversy are potential conflicts of interest among the condition's proponents, including the funding of prominent SCT researchers' work by the global pharmaceutical company Eli Lilly[36] and, in the case of Dr. Russell Barkley, a leader in the burgeoning SCT research field, direct financial ties to that company (Dr. Barkley has received $118,000 from 2009 to 2012 for consulting and speaking engagements from Eli Lilly).[47] When referring to the "increasing clinical referrals occurring now and more rapidly in the near future driven by increased awareness of the general public in SCT", Dr. Barkley writes "The fact that SCT is not recognized as yet in any official taxonomy of psychiatric disorders will not alter this circumstance given the growing presence of information on SCT at various widely visited internet sites such as YouTube and Wikipedia, among others."[48] ## See also[edit] * Attention deficit hyperactivity disorder controversies * Bradyphrenia (slowness of thought) * Clouding of consciousness * Cognitive Tempo * Type B personality ## References[edit] 1. ^ a b Mary Silva (Cincinnati Children's Hospital 2015). A Fuzzy Debate About A Foggy Condition. Megan Brooks (Medscape 2014). Sluggish Cognitive Tempo a Distinct Attention Disorder? 2. ^ Martha A. Combs; et al. (2014). "Impact of SCT and ADHD Symptoms on Adults' Quality of Life". Applied Research in Quality of Life. 9 (4): 981–995. doi:10.1007/s11482-013-9281-3. S2CID 49480261. 3. ^ Becker, Stephen P.; Holdaway, Alex S.; Luebbe, Aaron M. (2018). "Suicidal Behaviors in College Students: Frequency, Sex Differences, and Mental Health Correlates Including Sluggish Cognitive Tempo". Journal of Adolescent Health. 63 (2): 181–188. doi:10.1016/j.jadohealth.2018.02.013. PMC 6118121. PMID 30153929. 4. ^ a b c "Sluggish cognitive tempo (Chapter 15)". Oxford textbook of attention deficit hyperactivity disorder (First ed.). Oxford Publishing. 2018. pp. 147–154. ISBN 9780191059766. 5. ^ a b Fırat, Sumeyra (2020). 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Bibcode:1970SciAm.222d..94S. doi:10.1038/scientificamerican0470-94. PMID 5417827. 42. ^ Guy Falardeau (1997). Les enfants hyperactifs et lunatiques. ISBN 978-2890446267. 43. ^ Lahey BB, Pelham WE, Schaughency EA, Atkins MS, Murphy A, Hynd G (1988). "Dimensions and Types of Attention Deficit Disorder". Journal of the American Academy of Child & Adolescent Psychiatry. 27 (3): 330–335. doi:10.1097/00004583-198805000-00011. PMID 3379015. 44. ^ Keith McBurnett (2007). "Sluggish Cognitive Tempo: The Promise and Problems of Measuring Syndromes in the Attention Spectrum". In McBurnett, Keith; Pfiffner, Linda (eds.). Attention Deficit Hyperactivity Disorder – Concepts, Controversies, New Directions. Medical Psychiatry. p. 352. doi:10.3109/9781420017144. ISBN 978-0-8247-2927-1. 45. ^ Warren Weinberg, Roger Brumback (1990). "Primary disorder of vigilance: A novel explanation of inattentiveness, daydreaming, boredom, restlessness, and sleepiness". The Journal of Pediatrics. 116 (5): 720–725. doi:10.1016/s0022-3476(05)82654-x. PMID 2329420. 46. ^ Keith McBurnett; et al. (2001). "Symptom properties as a function of ADHD type: An argument for continued study of sluggish cognitive tempo". Journal of Abnormal Child Psychology. 29 (3): 207–213. doi:10.1023/A:1010377530749. PMID 11411783. S2CID 9758381. 47. ^ "Has Your Health Professional Received Drug Company Money?". ProPublica. Archived from the original on 17 April 2014. Retrieved 17 April 2014. 48. ^ Barkley, R. A. (2014). "Sluggish Cognitive Tempo (Concentration Deficit Disorder?): Current Status, Future Directions, and a Plea to Change the Name" (PDF). Journal of Abnormal Child Psychology. 42 (1): 117–125. doi:10.1007/s10802-013-9824-y. PMID 24234590. S2CID 8287560. ## External links[edit] * ADHD in Adults: Sluggish cognitive tempo and ADHD * v * t * e Attention deficit hyperactivity disorder Main articles * History of ADHD * ADHD in adults * ADHD controversies * ADHD management * Social construct theory of ADHD * ADHD coaching * Epidemiology of ADHD * Diet and ADHD * Major characteristics: Attention * Hyperactivity * Impulsivity Sub-types * ADHD predominantly inattentive (ADHD-I, formerly ADD) * ADHD predominantly hyperactive (ADHD-H, formerly ADHD) * ADHD combined type (ADHD-C) Medications Stimulants: * Methylphenidate (Ritalin, Concerta, and others) * Dexmethylphenidate (Focalin, Focalin XR) * Amphetamine (Evekeo, Adderall, Adzenys XR, Dyanavel XR) * Dextroamphetamine (Dexedrine, Zenzedi, ProCentra, and others) * Lisdexamfetamine (Vyvanse) Non-stimulant: * Atomoxetine (Strattera) * Guanfacine (Tenex (off-label), Intuniv) * Clonidine (Catapres (off-label), Kapvay) Related or outdated topics * Deferred gratification * Auditory processing disorder * Deficits in attention, motor control and perception * Developmental coordination disorder * Low arousal theory * Sluggish cognitive tempo * Sensory processing disorder * Hunter vs. farmer hypothesis * Category [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Sluggish cognitive tempo	None	30,437	wikipedia	https://en.wikipedia.org/wiki/Sluggish_cognitive_tempo	2021-01-18T18:41:24	{"wikidata": ["Q519681"]}
A number sign (#) is used with this entry because of evidence that spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is caused by homozygous mutation in the KLC2 gene (611729) on chromosome 11q13.2. Description Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive spastic paraplegia resulting in loss of independent ambulation in the teenage years. Additional features include optic atrophy, later onset of sensorimotor peripheral neuropathy, and progressive joint contractures; cognition remains intact (summary by Melo et al., 2015). Clinical Features Macedo-Souza et al. (2005) reported a large consanguineous Brazilian family in which 25 members had a neurologic disorder characterized by congenital optic atrophy, early-onset progressive spastic paraplegia, and distal axonal motor and sensory peripheral neuropathy (SPOAN). Affected patients showed mild motor developmental delay early in life with loss of independent ambulation by 10 years of age; 3 patients never achieved ambulation. Most patients had brisk proximal reflexes and absent distal reflexes, as well as impaired distal sensation to vibration and position; however, pain was not a feature. Dysarthria and distal amyotrophy were apparent in patients over 20 years of age. Exacerbated startle response to sound was present from infancy in all patients. Twelve patients had scoliosis, 5 of whom were severely affected. No patients had ataxia, dystonia, incontinence, or cognitive impairment. Electromyography (EMG) studies were consistent with an axonal motor and sensory neuropathy, and sural nerve biopsy showed decreased numbers of myelinated and unmyelinated fibers, some with bizarre shapes and thin myelin sheaths. Macedo-Souza et al. (2005) noted that the condition is common in Serrinha dos Pintos, an isolated area in northeastern Brazil, with an estimated carrier rate of 1 in 9. Inheritance The transmission pattern of SPOAN in the families reported by Macedo-Souza et al. (2005) was consistent with autosomal recessive inheritance. Mapping By genomewide linkage analysis of a large Brazilian family with SPOAN, Macedo-Souza et al. (2005) identified a 4.79-Mb candidate gene region on chromosome 11q13 between markers D11S1908 and D11S1889 (maximum 2-point lod score of 14.43 at D11S1883). Macedo-Souza et al. (2009) recalculated linkage of SPOAN by including 44 additional patients from the same geographic area as those reported by Macedo-Souza et al. (2005) and obtained a maximum 2-point lod score of 33.2 at D11S987 and 27.0 at D11S1889. All affected individuals were homozygous for D11S1889 at chromosome 11q13. The critical region was reduced from 4.8 to 2.3 Mb between markers rs1939212 and D11S987. Within the critical region, the KLC2 (611729), CCS (603864), and LRFN4 (612810) genes were sequenced, but no mutations were identified. Molecular Genetics In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, Melo et al. (2015) identified a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene (611729.0001). The deletion was not identified by whole-exome sequencing, but only by whole-genome sequencing. Patient fibroblasts and pluripotent stem cells induced into motor neurons showed increased expression of the KLC2 gene (increase of 48 to 74% compared to controls). There were no differences in KLC2 expression in peripheral blood cells between patients, heterozygous mutation carriers, and controls, suggesting a tissue-specific effect. Melo et al. (2015) noted that this was a novel molecular disease mechanism: a gain-of-function effect in a recessive disorder. Animal Model Melo et al. (2015) found that morpholino knockdown of the klc2 gene in zebrafish embryos resulted in a shortened and twisted tail and an inability to swim, in a dose-dependent manner. Overexpression of the klc2 gene resulted in a similar motor phenotype with increased lethality (over 70%). INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Optic atrophy, congenital \- Pale optic disks \- Fixation nystagmus SKELETAL \- Joint contractures Spine \- Scoliosis \- Kyphosis Feet \- Pes cavus SKIN, NAILS, & HAIR Skin \- Hyperhidrosis MUSCLE, SOFT TISSUES \- Distal amyotrophy NEUROLOGIC Central Nervous System \- Delayed motor development \- Spastic paraplegia \- Loss of independent ambulation by age 10 years \- Hyperreflexia proximally \- Dysarthria (onset in third decade) \- Exaggerated acoustic startle response Peripheral Nervous System \- Distal sensory and motor axonal neuropathy (onset in late-childhood/adolescence) \- Impaired distal sensation for tactile, proprioceptive, and vibratory senses \- Hyporeflexia/areflexia distally \- Nerve biopsy shows loss of myelinated and unmyelinated fibers MISCELLANEOUS \- Onset of spastic paraplegia in first year of life \- High frequency in Northeastern Brazil \- Progressive disorder MOLECULAR BASIS \- Caused by mutation in the kinesin light chain 2 gene (KLC2, 611729.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY	c1836010	30,438	omim	https://www.omim.org/entry/609541	2019-09-22T16:06:00	{"doid": ["0060491"], "mesh": ["C563702"], "omim": ["609541"], "orphanet": ["320406"]}
A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-115 (DFNB115) is caused by compound heterozygous mutation in the SPNS2 gene (612584) on chromosome 17p13. One such patient has been reported. Description DFNB115 is characterized by severe sensorineural hearing impairment in early childhood (Ingham et al., 2019). Clinical Features Ingham et al. (2019) studied a 2-year-old girl from the United States in whom visual reinforcement audiometry revealed moderate to moderately severe hearing loss between 250 Hz and 4 kHz with no response at 8 kHz in the right ear, and severe hearing loss sloping to profound deafness from 500 Hz to 8 kHz with no response at 4 and 8 kHz in the left ear. Bone conduction testing indicated moderate-to-severe hearing loss at 2 kHz in the right ear, suggesting sensorineural impairment, and acoustic reflexes were absent. The authors noted that the child had surprisingly good sound localization performance. Molecular Genetics By clinical whole-exome sequencing in a 2-year-old girl with sensorineural hearing loss, Ingham et al. (2019) identified compound heterozygosity for mutations in the SPNS2 gene: a frameshift mutation (612584.0001) inherited from her father, and a 3-bp in-frame deletion (612584.0002) inherited from her mother. Neither mutation was found in the gnomAD database. INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing loss, sensorineural, severe \- Absent acoustic reflexes MISCELLANEOUS \- Onset within first 2 years of life \- Based on report of 1 patient (last curated May 2019) MOLECULAR BASIS \- Caused by mutation in the sphingolipid transporter-2 gene (SPNS2, 612584.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	DEAFNESS, AUTOSOMAL RECESSIVE 115	None	30,439	omim	https://www.omim.org/entry/618457	2019-09-22T15:41:51	{"omim": ["618457"]}
Medical condition For epileptic seizures, see Seizure. For other uses, see Seizure (disambiguation). Non-epileptic seizure Other namesPseudoseizure, nonepileptic event, nonepileptic episodic event TypesPhysiological, psychological[1] Non-epileptic seizures (NES), also known as non-epileptic events, are paroxysmal events that appear similar to an epileptic seizure but do not involve abnormal, rhythmic discharges of neurons in the brain.[2] Symptoms may include shaking, loss of consciousness, and loss of bladder control.[3] They may or may not be caused by either physiological or psychological conditions.[3] Physiological causes include fainting, sleep disorders, and heart arrhythmias.[3][1] Psychological causes are known as psychogenic non-epileptic seizures.[1] Diagnosis may be based on the history of the event and physical examination with support from heart testing and an EEG.[1] ## Contents * 1 Terminology * 2 Signs and symptoms * 3 Causes * 4 Diagnosis * 5 References * 6 External links ## Terminology[edit] The International League Against Epilepsy (ILAE) define an epileptic seizure as "a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain."[4] Convulsive or non-convulsive seizures can occur in someone who does not have epilepsy – as a consequence of head injury, drug overdose, toxins, eclampsia or febrile convulsions. A provoked (or an un-provoked, or an idiopathic) seizure must generally occur twice before a person is diagnosed with epilepsy. When used on its own, the term seizure usually refers to an epileptic seizure. The lay use of this word can also include sudden attacks of illness, loss of control, spasm or stroke.[4] Where the physician is uncertain as to the diagnosis, the medical term paroxysmal event and the lay terms spells, funny turns or attacks may be used. ## Signs and symptoms[edit] * Convulsions * Crying out or making a noise * Stiffening * Jerky, rhythmic or twitching motions * Falling down * Loss of consciousness * Confusion after returning to consciousness * Loss of bladder control * Biting the tongue ## Causes[edit] Possible causes include: * Syncope (fainting) * Reflex anoxic seizures * Breath-holding spells of childhood * Cataplexy * Hyperekplexia, also called startle syndrome * Migraine * Narcolepsy * Non-epileptic myoclonus * Opsoclonus * Parasomnias, including night terrors * Paroxysmal kinesigenic dyskinesia * Repetitive or ritualistic behaviours[citation needed] * Tics * Hypoglycemia ## Diagnosis[edit] A wide array of phenomena may or may not resemble epileptic seizures, which may lead to people who do not have epilepsy being misdiagnosed. Indeed, a significant percentage of people initially diagnosed with epilepsy will later heal. In one study, the majority of children referred to a secondary clinic with "fits, faints and funny turns" did not have epilepsy, with syncope (fainting) as the most common alternative.[5] In another study, 39% of children referred to a tertiary epilepsy centre did not have epilepsy, with staring episodes in mentally challenged children as the most common alternative.[6] In adults, the figures are similar, with one study reporting a 26% rate of misdiagnosis.[7] Differentiation of a non-epileptic attack from an epileptic seizure includes the patient keeping their eyes closed and rarely causing themselves harm (both more common in non-epileptic attacks) ## References[edit] 1. ^ a b c d Hopp, JL (April 2019). "Nonepileptic Episodic Events". Continuum (Minneapolis, Minn.). 25 (2): 492–507. doi:10.1212/CON.0000000000000711. PMID 30921020. 2. ^ Joseph H. Ricker; Reilly R. Martinez, eds. (October 2003). Differential Diagnosis in Adult Neuropsychological Assessment. Springer Publishing Company. p. 109. ISBN 0-8261-1665-5. 3. ^ a b c "Non-Epileptic Seizures". www.cedars-sinai.edu. Retrieved 20 December 2019. 4. ^ a b Fisher R, van Emde Boas W, Blume W, Elger C, Genton P, Lee P, Engel J (2005). "Epileptic seizures and epilepsy: definitions proposed by the International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE)". Epilepsia. 46 (4): 470–2. doi:10.1111/j.0013-9580.2005.66104.x. PMID 15816939. (Free full text online). 5. ^ Hindley D, Ali A, Robson C (2006). "Diagnoses made in a secondary care "fits, faints, and funny turns" clinic". Arch Dis Child. 91 (3): 214–8. doi:10.1136/adc.2004.062455. PMC 2065949. PMID 16492885. (Free full text online) 6. ^ Uldall P, Alving J, Hansen LK, Kibaek M, Buchholt J (2006). "The misdiagnosis of epilepsy in children admitted to a tertiary epilepsy centre with paroxysmal events". Arch Dis Child. 91 (3): 219–21. doi:10.1136/adc.2004.064477. PMC 2065931. PMID 16492886. (Free full text online) 7. ^ Smith D, Defalla BA, Chadwick DW (1999). "The misdiagnosis of epilepsy and the management of refractory epilepsy in a specialist clinic". QJM. 92 (1): 15–23. doi:10.1093/qjmed/92.1.15. PMID 10209668. (Free full text online) ## External links[edit] * What are Non-Epileptic Seizures? from Cleveland Clinic * v * t * e Seizures and epilepsy Basics * Seizure types * Aura (warning sign) * Postictal state * Epileptogenesis * Neonatal seizure * Epilepsy in children Management * Anticonvulsants * Investigations * Electroencephalography * Epileptologist Personal issues * Epilepsy and driving * Epilepsy and employment Seizure types Focal Seizures Simple partial Complex partial Gelastic seizure Epilepsy Temporal lobe epilepsy Frontal lobe epilepsy Rolandic epilepsy Nocturnal epilepsy Panayiotopoulos syndrome Vertiginous epilepsy Generalised * Tonic–clonic * Absence seizure * Atonic seizure * Automatism * Benign familial neonatal seizures * Lennox–Gastaut syndrome * Myoclonic astatic epilepsy * Epileptic spasms Status epilepticus * Epilepsia partialis continua * Complex partial status epilepticus Myoclonic epilepsy * Progressive myoclonus epilepsy * Dentatorubral–pallidoluysian atrophy * Unverricht–Lundborg disease * MERRF syndrome * Lafora disease * Juvenile myoclonic epilepsy Non-epileptic seizure * Febrile seizure * Psychogenic non-epileptic seizure Related disorders * Sudden unexpected death in epilepsy * Todd's paresis * Landau–Kleffner syndrome * Epilepsy in animals Organizations * Citizens United for Research in Epilepsy (US) * Epilepsy Action (UK) * Epilepsy Action Australia * Epilepsy Foundation (US) * Epilepsy Outlook (UK) * Epilepsy Research UK * Epilepsy Society (UK) [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Non-epileptic seizure	c3495874	30,440	wikipedia	https://en.wikipedia.org/wiki/Non-epileptic_seizure	2021-01-18T18:42:15	{"mesh": ["D012640"], "umls": ["C3495874"], "wikidata": ["Q7048905"]}
Tetrasomy 18p is a chromosomal condition that affects many parts of the body. This condition usually causes feeding difficulties in infancy, delayed development, intellectual disability that is often mild to moderate but can be severe, changes in muscle tone, distinctive facial features, and other birth defects. However, the signs and symptoms vary among affected individuals. Babies with tetrasomy 18p often have trouble feeding and may vomit frequently, which makes it difficult for them to gain weight. Some affected infants also have breathing problems and jaundice, which is a yellowing of the skin and the whites of the eyes. Changes in muscle tone are commonly seen with tetrasomy 18p. Some affected children have weak muscle tone (hypotonia), while others have increased muscle tone (hypertonia) and stiffness (spasticity). These changes contribute to delayed development of motor skills, including sitting, crawling, and walking. Tetrasomy 18p is associated with a distinctive facial appearance that can include unusually shaped and low-set ears, a small mouth, a flat area between the upper lip and the nose (philtrum), and a thin upper lip. Many affected individuals also have a high, arched roof of the mouth (palate), and a few have had a split in the roof of the mouth (cleft palate). Additional features of tetrasomy 18p can include seizures, vision problems, recurrent ear infections, mild to moderate hearing loss, constipation and other gastrointestinal problems, abnormal curvature of the spine (scoliosis or kyphosis), a shortage of growth hormone, and birth defects affecting the heart and other organs. Males with tetrasomy 18p may be born with undescended testes (cryptorchidism) or the opening of the urethra on the underside of the penis (hypospadias). Psychiatric conditions, such as attention-deficit/hyperactivity disorder (ADHD) and anxiety, as well as social and behavioral challenges have also been reported in some people with tetrasomy 18p. ## Frequency Tetrasomy 18p is a rare disorder. It is known to affect about 250 families worldwide. ## Causes Tetrasomy 18p results from the presence of an abnormal extra chromosome, called an isochromosome 18p, in each cell. An isochromosome is a chromosome with two identical arms. Normal chromosomes have one long (q) arm and one short (p) arm, but isochromosomes have either two q arms or two p arms. Isochromosome 18p is a version of chromosome 18 made up of two p arms. Cells normally have two copies of each chromosome, one inherited from each parent. In people with tetrasomy 18p, cells have the usual two copies of chromosome 18 plus an isochromosome 18p. As a result, each cell has four copies of the short arm of chromosome 18. (The word "tetrasomy" is derived from "tetra," the Greek word for "four.") The extra genetic material from the isochromosome disrupts the normal course of development, causing the characteristic features of this disorder. ### Learn more about the chromosome associated with Tetrasomy 18p * chromosome 18 ## Inheritance Pattern Tetrasomy 18p is usually not inherited. The chromosomal change responsible for the disorder typically occurs as a random event during the formation of reproductive cells (eggs or sperm) in a parent of the affected individual, usually the mother. Most affected individuals have no history of the disorder in their family. However, rare inherited cases of tetrasomy 18p have been reported. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Tetrasomy 18p	c0795868	30,441	medlineplus	https://medlineplus.gov/genetics/condition/tetrasomy-18p/	2021-01-27T08:25:40	{"gard": ["35"], "mesh": ["C538306"], "omim": ["614290"], "synonyms": []}
Trilateral retinoblastoma Other namesTRb SpecialtyOncology Trilateral retinoblastoma is a malignant midline primitive neuroectodermal tumor occurring in patients with inherited uni- or bilateral retinoblastoma. In most cases trilateral retinoblastoma presents itself as pineoblastoma (pineal TRb). In about a fourth of the cases the tumor develops in another intracranial region, most commonly supra- or parasellar (non-pineal TRb), but there are reported cases with non-pineal TRb in the 3rd ventricle. In most cases pineal TRb is diagnosed before the age of 5, but after the diagnosis of retinoblastoma. Non-pineal TRb, however, is often diagnosed simultaneous with retinoblastoma. Prognosis of patients with trilateral retinoblastoma is dismal, only a few patients have survived more than 5 years after diagnosis; all survivors were diagnosed with small tumors in a subclinical stage.[1] Recent advances in (high-dose) chemotherapy treatment regimens and early detection have improved survival of patients with trilateral retinoblastoma.[2] ## See also[edit] * Primitive neuroectodermal tumor * Retinoblastoma * Pineoblastoma ## References[edit] 1. ^ Kivelä T (June 1999). "Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic intracranial retinoblastoma". Journal of Clinical Oncology. 17 (6): 1829–37. doi:10.1200/JCO.1999.17.6.1829. PMID 10561222. 2. ^ De Jong MC, Kors WA, De Graaf P, Castelijns JA, Kivelä T, Moll AC (September 2014). "Trilateral retinoblastoma: a systematic review and meta-analysis". The Lancet Oncology. 15 (10): 1157–67. doi:10.1016/s1470-2045(14)70336-5. PMID 25126964. * v * t * e Tumours of endocrine glands Pancreas * Pancreatic cancer * Pancreatic neuroendocrine tumor * α: Glucagonoma * β: Insulinoma * δ: Somatostatinoma * G: Gastrinoma * VIPoma Pituitary * Pituitary adenoma: Prolactinoma * ACTH-secreting pituitary adenoma * GH-secreting pituitary adenoma * Craniopharyngioma * Pituicytoma Thyroid * Thyroid cancer (malignant): epithelial-cell carcinoma * Papillary * Follicular/Hurthle cell * Parafollicular cell * Medullary * Anaplastic * Lymphoma * Squamous-cell carcinoma * Benign * Thyroid adenoma * Struma ovarii Adrenal tumor * Cortex * Adrenocortical adenoma * Adrenocortical carcinoma * Medulla * Pheochromocytoma * Neuroblastoma * Paraganglioma Parathyroid * Parathyroid neoplasm * Adenoma * Carcinoma Pineal gland * Pinealoma * Pinealoblastoma * Pineocytoma MEN * 1 * 2A * 2B This oncology article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Trilateral retinoblastoma	c2608045	30,442	wikipedia	https://en.wikipedia.org/wiki/Trilateral_retinoblastoma	2021-01-18T18:35:12	{"umls": ["C2608045"], "wikidata": ["Q18394840"]}
Blue diaper syndrome is a rare metabolic disorder characterized by problems in the absorption of the aminoacid tryptophan and blue urine stains on diapers. Symptoms typically include digestive problems, fever, irritability, failure to thrive, and visual problems. The abnormally high levels of calcium in the blood (hypercalcemia) may result in accumulation of calcium in the kidneys (nephrocalcinosis) leading to impaired kidney function and possible kidney failure. The bluish urine-stained diapers occur when intestinal bacteria break down excessive amounts of tryptophan, a nutrient of the diet, leading to increase of indican and related compounds in the urine (indicanuria). Although the exact nature of the biochemical defect remains uncertain, it is believed to be related to a defect in the intestinal absorption and transport of tryptophan. The defect in tryptophan absorption may be associated with mutations in the LAT2 and TAT1 genes. Inheritance is autosomal recessive or X-linked recessive. Children with blue diaper syndrome may be put on a diet that restricts their intake of calcium, protein, vitamin D, and tryptophan. Antibiotics may also be used to control intestinal infections. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Blue diaper syndrome	c0268478	30,443	gard	https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome	2021-01-18T18:01:45	{"mesh": ["C536239"], "omim": ["211000"], "umls": ["C0268478"], "orphanet": ["94086"], "synonyms": ["Hypercalcemia, familial, with nephrocalcinosis and indicanuria"]}
Langer et al. (1983) reported a single case of a Japanese infant who died in the newborn period of cardiac and renal failure. X-rays showed bizarre deformities of the forearm and lower leg. The corneas were clouded and the kidneys enlarged. Renal biopsies showed glomerulocystic kidneys. A noncyanotic cardiac malformation was thought to be present. Autopsy was refused. The parents were apparently unrelated--mother aged 31 and father aged 36. INHERITANCE \- Isolated cases HEAD & NECK Face \- Micrognathia Ears \- Low-set ears \- Prominent lobules Eyes \- Short palpebral fissures \- Corneal opacities Nose \- Depressed nasal bridge GENITOURINARY Kidneys \- Glomerulocystic dysplasia \- Renal failure SKELETAL Limbs \- Upper limb brachymesomelia \- Short, broad, radially bowed ulnae \- Short radii \- Lateral bowing proximal femur \- Lateral bowing distal tibiae \- Short, thin fibulae Hands \- Single transverse palmar creases SKIN, NAILS, & HAIR Skin \- Cutis marmorata ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	BRACHYMESOMELIA-RENAL SYNDROME	c1862084	30,444	omim	https://www.omim.org/entry/113470	2019-09-22T16:43:57	{"mesh": ["C537096"], "omim": ["113470"]}
For a phenotypic description and discussion of genetic heterogeneity of migraine headaches, see MGR1 (157300). Mapping Since migraine is a syndrome instead of a clearly differentiated disease, Anttila et al. (2006) hypothesized that individual clinical components of migraine (i.e., traits such as pulsating pain and photophobia, among others) might represent reflections of specific rather than shared loci and thus independently contribute to susceptibility to migraine. To test this hypothesis, they used individual traits and trait groups of the International Headache Society (IHS) criteria as phenotypes for genomewide linkage analysis in the same dataset of 50 Finnish families used to establish the MGR1 locus (Wessman et al., 2002). In addition to confirming the MGR1 locus on 4q24, Anttila et al. (2006) found significant evidence of linkage between the pulsation trait and marker D17S945, where a 2-point highest lod score under locus heterogeneity (hlod) score of 4.65 was detected. They fine-mapped the region with 9 additional markers to provide a map interval of 1.7 cM on chromosome 17p13.1. INHERITANCE \- Autosomal dominant ABDOMEN Gastrointestinal \- Nausea \- Vomiting NEUROLOGIC Central Nervous System \- Migraine with aura \- Migraine without aura \- Unilateral headache location \- Photophobia \- Phonophobia \- Pulsating quality MISCELLANEOUS \- Headache duration 4 to 72 hours \- Aggravated by physical activity \- Genetic heterogeneity, see MGR1 ( 157300 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 10	c1857752	30,445	omim	https://www.omim.org/entry/610208	2019-09-22T16:04:57	{"omim": ["610208"], "synonyms": ["Alternative titles", "MGR10", "MIGRAINE WITH PULSATION"]}
Unilateral absence of the pulmonary artery (UAPA) is a heart defect that is present from birth. The pulmonary artery takes blood from the heart to the lungs. In the absence of a pulmonary artery, other blood vessels compensate by supplying blood to the lungs. Pressure can build inside these vessels and lead to heart and lung complications. UAPA can be left sided or right sided. It most often occurs alone, but can occur with other heart anomalies and birth defects. Signs and symptoms include repeat lung infections, lower exercise tolerance, shortness of breath, chest pain, and fluid in the lungs. Risk for these symptoms increase with age. Complications of UAPA include, hemoptysis (coughing up blood), respiratory hemorrhage, and high blood pressure in the arteries to the lung (pulmonary hypertension). Serious complications may be triggered by stress on the body, such as pregnancy and altitude sickness. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Unilateral absence of a pulmonary artery	None	30,446	gard	https://rarediseases.info.nih.gov/diseases/8741/unilateral-absence-of-a-pulmonary-artery	2021-01-18T17:57:14	{"synonyms": ["Isolated unilateral absence of a pulmonary artery", "Isolated UAPA", "Pulmonary artery, isolated unilateral absence of", "Congenital absence of the pulmonary artery"]}
A number sign (#) is used with this entry because of evidence that X-linked isolated hypospadias-1 (HYSP1) is caused by mutation in the androgen receptor gene (AR; 313700) on chromosome Xq12. Description Hypospadias is a common congenital malformation of the penis, affecting approximately 1 in 750 births in Europe. Due to developmental arrest of urethral fusion, the urethral opening is displaced along the ventral side of the penis. The opening can be located glanular, penile, or even more posterior in the scrotum or perineum. Although most children with this condition undergo surgery in their second year of life, serious medical, social, and sexual problems may still exist later in life (summary by van der Zanden et al., 2011). Hypospadias is a feature of several syndromic disorders, including the androgen insensitivity syndrome (300068) and Opitz syndrome (300000). ### Genetic Heterogeneity of Hypospadias See also HYSP2 (300758), caused by mutation in the MAMLD1 gene (300120) on chromosome Xq28; HYSP3 (146450), a familial form which has been mapped to chromosome 7q32.2-q36.1; and HYSP4 (300856), a susceptibility locus mapped to chromosome Xp11.22 and associated with variation in the DGKK gene (300837). Clinical Features Batch et al. (1993) reported 2 brothers, born to nonconsanguineous parents, who presented at birth with perineal hypospadias. Both brothers had a 46,XY karyotype, and endocrine investigations were normal in both. Both showed a qualitative defect in androgen binding, suggesting that the androgen receptor was defective. Inheritance Quoting a frequency of hypospadias of about 3 per 1,000 male births, Fredell et al. (2002) performed a complex segregation analysis of 2,005 pedigrees in Sweden. The probands were ascertained through the departments of paediatric surgery, plastic surgery, and urology, where boys with hypospadias underwent surgery. In 7% of the ascertained families, 1 or more additional cases of hypospadias were present. Complex segregation analysis showed a heritability of 0.99 and evidence for multifactorial inheritance. The results suggested that hypospadias may be due to monogenic effects in a small proportion of families, but that there is a multifactorial cause for most cases. Population Genetics In a case-control study in Alsace, France, Stoll et al. (1990) found 176 cases of hypospadias out of 60,847 male infants, giving a prevalence at birth of 2.89 per 1,000 male newborns. Other malformations were present in about 15% of infants with hypospadias; of those with other malformations, renal and urinary tract malformations were present in 37%. The recurrence risk for brothers was 17%, and the heritability coefficient was calculated to be 56.9%. Biochemical Features Dolk (1998) commented on the rise of the prevalence of hypospadias and the concern that 'endocrine-disrupting chemicals' in the environment may be contributing to the increase. Molecular Genetics In 2 brothers with perineal hypospadias, Batch et al. (1993) found a qualitative androgen binding defect and a point mutation in the AR gene (313700.0020); they suggested that familial hypospadias is part of the phenotypic spectrum of partial androgen sensitivity. Sutherland et al. (1996) analyzed penile tissue from several locations in 40 patients who underwent reconstructive surgery for various degrees of hypospadias and found a C-to-T transition in exon 2 of the androgen receptor gene (pro546-to-ser) in only 1 patient (313700.0037). In the child with the mutation, the hypospadias was at the distal penile shaft and not associated with other genitourinary anomalies. Of the 26 patients with adequate information, none had an affected father or brother. Allera et al. (1995) also observed an AR mutation in exon 2 in a case of perineal isolated hypospadias and likewise concluded that AR mutations are rarely the cause of isolated hypospadias. INHERITANCE \- X-linked recessive GENITOURINARY External Genitalia (Male) \- Hypospadias, perineal MISCELLANEOUS \- See also autosomal form, 146450 , and another X-linked form, 300758 MOLECULAR BASIS \- Caused by mutation in the androgen receptor gene (AR, 313700.0020 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	HYPOSPADIAS 1, X-LINKED	c2678098	30,447	omim	https://www.omim.org/entry/300633	2019-09-22T16:19:52	{"doid": ["10892"], "mesh": ["C567482"], "omim": ["300633"], "orphanet": ["95706"], "synonyms": ["Perineal, scrotal or penoscrotal hypospadias"]}
A number sign (#) is used with this entry because it represents what has historically been considered a gene cluster on chromosome 5q31. The 15 tandemly arranged genes within this cluster, PCDHA1 (606307), PCDHA2 (606308), PCDHA3 (606309), PCDHA4 (606310), PCDHA5 (606311), PCDHA6 (606312), PCDHA7 (606313), PCDHA8 (606314), PCDHA9 (606315), PCDHA10 (606316), PCDHA11 (606317), PCDHA12 (606318), PCDHA13 (606319), PCDHAC1 (606320), and PCDHAC2 (606321), function as 'variable' exons that are individually spliced to a downstream constant region (PCDHACT) to form distinct PCDHA transcripts. Description The PCDHA gene cluster encodes a family of cadherin-like cell surface proteins that are expressed in neurons and are present at synaptic junctions. Multiple PCDHA mRNAs are produced by splicing a single variable exon to 3 constant region exons. Each variable exon is preceded by a promoter and encodes 6 cadherin-like ectodomains, a transmembrane domain, and a portion of the cytoplasmic domain. The constant region exons encode the remainder of the cytoplasmic domain (Ribich et al., 2006). Cloning and Expression Kohmura et al. (1998) described cadherin-related neuronal receptors (CNRs) in the mouse. By EST database searching for cadherin-like sequences, Wu and Maniatis (1999) identified 52 novel genes organized into 3 closely linked tandem clusters, alpha, beta (604967), and gamma (604968), on human chromosome 5q31. A distinct large, uninterrupted exon of approximately 2,400 nucleotides encodes the 6 N-terminal extracellular domains and the transmembrane domain of each protocadherin. The C termini of the PCDHA and PCDHG proteins are identical within each cluster and are encoded by 3 small exons located downstream from the array of N-terminal exons. Each large exon is independently spliced to the first exon encoding the intracellular domain. Wu and Maniatis (1999) denoted the extracellular portion as the variable region and the cytoplasmic portion as the constant region. In contrast to the PCDHA and PCDHG clusters, the PCDHB gene cluster does not have a downstream constant region, and the C-terminal cytoplasmic domains of PCDHB proteins are therefore encoded by the single-exon PCDHB genes (Vanhalst et al., 2001). Wu and Maniatis (1999) proposed 4 models to explain protocadherin gene regulation. Wu and Maniatis (1999) determined that the PCDHA cluster contains at least 15 genes that encode proteins whose sequences most closely resemble those of the mouse CNR proteins. PCDHAC variable exons are more closely related to the C-type protocadherins in the PCDHG cluster than to the other PCDHA variable exons. All PCDHA proteins have an identical 152-amino acid C-terminal cytoplasmic region. The cytoplasmic regions of the PCDHA and PCDHG proteins are distinct, although both share a similarly located lysine-rich motif. The first 2 exons of the PCDHA constant region encode 2 PXXP motifs, a putative SH3 protein-binding site, whereas those of the PCDHG constant region do not. Sugino et al. (2000) identified 3 splice variants of mouse and human PCDHA9 that differ in the 3-prime constant region, and they confirmed that mouse Cnr1 (PCDHA4) also produces these variants. The A-type constant region includes 3 exons and encodes the longest cytoplasmic domain. In the B-type constant region, the most 3-prime constant exon is divided into 2, resulting in a C-terminal end of intermediate length. O-type variants lack the constant region exons entirely and instead contain the intronic sequence immediately following the variable exon, including an intronic poly(A) sequence. RT-PCR of mouse brain showed that the O-type Cnr1 variant was expressed at a higher level than the A- and B-type Cnr1 variants. By in situ hybridization and PCR analysis, Zou et al. (2007) found that some Pcdha and Pcdhg isoforms were widely expressed in specific cell types throughout various rat brain regions and spinal cord. In most central nervous system regions, labeling with a constant region probe was stronger and appeared in more cells than labeling with individual variable exon probes, consistent with splicing of variable exons to a common set of constant exons. However, in some cases, such as cerebellum for the PCDHA cluster, signals from the constant region probe were not much stronger than those from individual variable exon probes, suggesting expression of variable-only isoforms. ### PCDHA Antisense Transcripts A cis-antisense gene pair is defined as a pair of genes residing on opposite strands in the same locus with at least 1 exon of one gene overlapping at least 1 exon of the other gene. Cis-antisense transcripts function in gene regulation at both the transcriptional and posttranscriptional levels. By in silico analysis of the PCDH gene clusters, Lipovich et al. (2006) identified 12 cis-antisense transcriptional units. Those with greatest EST support were anti-PCDHA12, anti-PCDHB3, and anti-PCDH5 pseudogene, all of which appeared to be noncoding. These antisense transcripts were conserved in chimpanzee and rhesus, but not in mouse. PCR analysis verified expression of these antisense transcripts in adult and fetal human brain and in rhesus brain, and the presence of antisense transcripts was associated with significantly reduced sense expression levels across all orthologs. Gene Family Cadherins, a family of calcium-dependent cell-cell adhesion molecules, mediate neural cell-cell interactions. Sperry (1963) proposed that neurons recognize their synaptic partners through lock-and-key interactions mediated by millions of specifier molecules. Cadherins were likely candidates for components of the lock-and-key mechanism based on their neural location, their adhesive diversity, and the structural biology of their adhesive interactions maintaining a synapse gap size of approximately 200 angstroms (Shapiro and Colman, 1999). Neural cadherins (CDH2; 114020), as well as epithelial (CDH1; 192090), placental (CDH3; 114021), and retinal (CDH4; 603006) cadherins, have homophilic binding specificities in that they preferentially adhere to cells expressing the same cadherin type. Cadherins of the 'classic' type have a highly conserved extracellular sequence motif of approximately 110 amino acids that is repeated 5 times as well as a highly conserved cytoplasmic domain of approximately 200 amino acids that associates with intracellular actin microfilaments (see, e.g., 102560) via catenins (see CTNNA1; 116805). 'Nonclassic' cadherins differ in that they may have 6 or 7 repeated extracellular domains or have cytoplasmic domains that connect to intermediate filaments (e.g., desmin; 125660) instead of actin. Protocadherins constitute a subfamily of the nonclassic cadherins. Gene Function Diverse PCDHA genes are expressed in the vertebrate brain. Using polymorphisms that distinguish the C57BL/6 and MSM mouse strains, Esumi et al. (2005) analyzed allelic expression of the Pcdha gene cluster in individual neurons. Single-cell analysis of Purkinje cells using multiple RT-PCR reactions showed the monoallelic and combinatorial expression of each variable exon in the Pcdha genes. Esumi et al. (2005) stated that this was the first description of the allelic expression of a diversified receptor family in the central nervous system and concluded that the allelic and combinatorial expression of distinct variable exons of the Pcdha genes is a potential mechanism for specifying neuron identity in the brain. Ribich et al. (2006) identified 15 DNase I hypersensitive sites (HSs) distributed over 77 kb of the 3-prime end of the mouse Pcdha gene cluster. HS5 through HS1 (HS5-1) are clustered 30 kb downstream of the third constant region exon. Ribich et al. (2006) found that HS5-1 and HS7 drove expression of reporter genes in a tissue-specific manner in mouse embryos, with HS5-1 showing a preferences for central nervous system, especially cortex and olfactory bulb, and HS7 showing a preference for sensory organs, specifically whisker and eyebrow follicles, ears, and eyes. Deletion of HS5-1 decreased expression of Pcdha1 through Pcdha12 and Pcdhac1 in differentiated mouse embryonic stem cells, indicating that HS5-1 is required for maximal expression of all Pcdha promoters except that of Pcdhac2. Mountoufaris et al. (2017) showed that the PCDH-alpha, PCDH-beta (604967), and PCDH-gamma (604968) gene clusters functionally cooperate to provide individual mouse olfactory sensory neurons with the cell surface diversity required for their assembly into distinct glomeruli in the olfactory bulb. Although deletion of individual Pcdh clusters had subtle phenotypic consequences, the loss of all 3 clusters led to a severe axonal arborization defect and loss of self-avoidance. By contrast, when endogenous Pcdh diversity is overridden by the expression of a single-tricluster gene repertoire (alpha and beta and gamma), olfactory sensory neuron axons fail to converge to form glomeruli, likely owing to contact-mediated repulsion between axons expressing identical combinations of Pcdh isoforms. Gene Structure Wu and Maniatis (1999) determined that the PCDHA gene cluster spans about 230 kb and contains 15 genes, which function as variable first exons, followed by 3 small constant region exons. Sugino et al. (2000) noted that the mouse and human PCDHA clusters show a highly similar arrangement of variable and constant exons, but they are not identical. By comparative sequence analysis, Wu et al. (2001) determined that the mouse CNR cluster and the human PCDHA cluster share nearly identical organizations. Orthologous sequences have more conserved DNA sequences, with rich arrays of CpG islands upstream of the variable region exons, than do paralogous sequences. This finding suggested that each variable region has a distinct promoter. In addition, the regions downstream of the last C-type variable region exons in the alpha and gamma clusters, PCDHAC2 and PCDHGC5 (606306), respectively, are also conserved. Tasic et al. (2002) showed that each PCDH variable exon is preceded by a promoter and that promoter choice determines which variable exon is included in a PCDH mRNA. In addition, they provided evidence that alternative splicing of variable exons within a gene cluster occurs via a cis-splicing mechanism. However, virtually every variable exon can engage in trans-splicing with constant exons from another cluster, albeit at a far lower level. Mapping By genomic sequence analysis, Wu and Maniatis (1999) mapped the PCDHA gene cluster to chromosome 5q31. Using FISH, Sugino et al. (2000) confirmed the localization of the human PCDHA gene cluster on 5q31 and mapped the mouse CNR cluster to chromosome 18. Molecular Genetics In 96 European Americans, Noonan et al. (2003) sequenced the promoters of all 13 PCDHA genes and identified polymorphisms in the promoters of 8. In these promoters, 11 common SNPs were in extensive linkage disequilibrium (LD), forming 2 haplotypes, 48 kb long and of equal frequency, that extended from the PCDHA1 through the PCDHA7 genes. Sequencing the promoters in East Asians and African Americans indicated that although extensive LD is an ancient feature of the PCDHA cluster, it has eroded over time. The authors also discovered a 16.7-kb deletion that truncated the PCDHA8 gene and completely removed the PCDHA9 and PCDHA10 genes. This deletion appeared in 'normal' individuals from multiple populations, suggesting that a reduction in protocadherin gene number is not obviously deleterious. Miki et al. (2005) identified numerous SNPs in the PCDHA gene cluster in 104 Japanese individuals. Many nonsynonymous SNPs were detected in the ectodomain 1-encoding region of PCDHA. A 48-kb region of extensive linkage disequilibrium had 2 haplotypes extending from PCDHA1 to PCDHA7, and Miki et al. (2005) identified 15 amino acid exchanges in these 2 haplotypes. They also identified SNPs that appeared to represent gene conversions of PCDHA4 to PCDHA8. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	PROTOCADHERIN-ALPHA GENE CLUSTER	None	30,448	omim	https://www.omim.org/entry/604966	2019-09-22T16:11:40	{"omim": ["604966"], "synonyms": ["Alternative titles", "PCDH-ALPHA GENE CLUSTER"]}
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision. ## Epidemiology Prevalence of this form of corneal dystrophy is unknown, but numerous cases have been reported to date. ## Clinical description The erosions begin spontaneously or are precipitated by minor trauma, dust or smoke. The condition may become apparent by 6 months of age, but as a rule it only starts at 4 to 6 years of age. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Some experience a burning sensation and report sensitive eyes for years. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. The intensity and frequency of the recurrent epithelial erosions tend to diminish over time, and usually cease by the end of the fourth decade. Vision is sometimes impaired. ## Etiology The etiology has not been completely elucidated. The gene related to ERED remains to be mapped to a specific chromosomal locus. ## Diagnostic methods On slit-lamp examination, the erosions may be accompanied by a subepithelial haze or blebs, and subepithelial opacities, apparently due to fibrosis, or keloid-like nodules may develop. When present, subepithelial opacities continue to enlarge. Specific morphologic abnormalities have not been identified in ERED. ## Differential diagnosis Suspected cases of ERED should be differentiated from other conditions that are accompanied by recurrent epithelial erosions, particularly when erosions are the initial presenting manifestation, such as epithelial basement membrane dystrophy and other superficial or stromal corneal dystrophies (see these terms). ## Genetic counseling An autosomal dominant pattern of inheritance has been reported. ## Management and treatment ERED can be treated medically with the aim of healing the epithelial defect and protecting the loosely adherent epithelium. A topical antibiotic, cycloplegic and pressure patch are valuable. A lubricating ointment is useful at night. Hypertonic saline and bandage contact lens therapy may also be beneficial. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Epithelial recurrent erosion dystrophy	c1852551	30,449	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293381	2021-01-23T18:41:12	{"mesh": ["C565155"], "omim": ["122400"], "umls": ["C1852551"], "icd-10": ["H18.5"], "synonyms": ["Dystrophia Helsinglandica", "Dystrophia Smolandiensis", "ERED", "Recurrent hereditary corneal erosions"]}
## Description Angiotensin is formed from a precursor, angiotensinogen, which is produced by the liver and found in the alpha-globulin fraction of plasma. The lowering of blood pressure is a stimulus to secretion of renin (179820) by the kidney into the blood. Renin cleaves from angiotensinogen a terminal decapeptide, angiotensin I. This is further altered by the enzymatic removal of a dipeptide to form angiotensin II. Cloning and Expression Ohkubo et al. (1983) determined the sequence of the cloned rat angiotensinogen gene. The human angiotensinogen molecule has a molecular mass of about 50 kD. The angiotensin I decapeptide is located in its N-terminal part. Kageyama et al. (1984) reported the complete nucleotide sequence of human angiotensinogen mRNA. Similarly, Kunapuli et al. (1987) isolated cDNA clones for human angiotensinogen from a human liver library. The determined nucleotide sequence corroborated the sequence published by Kageyama et al. (1984), with the exception of a single nucleotide change which may represent a simple genetic polymorphism. Kunapuli et al. (1987) constructed a full-length angiotensinogen cDNA which enabled the in vitro synthesis of human angiotensinogen in E. coli. Gaillard et al. (1989) observed that the primary amino acid sequence shows similarities to that of alpha-1-antitrypsin (AAT; 107400) and antithrombin III (AT3; 107300). Gene Structure Gaillard et al. (1989) found that the human angiotensinogen gene contains 5 exons. The angiotensinogen gene shows organization identical to that of the AAT gene, but different from that of the AT3 gene. Mapping By in situ hybridization, Gaillard-Sanchez et al. (1990) assigned the angiotensinogen gene to 1q4 in the same region as the renin gene. Isa et al. (1989, 1990) used a human angiotensinogen cDNA plasmid probe to localize the gene by nonisotopic in situ hybridization; the location was determined to be 1q42-q43. By screening a panel of human-mouse somatic cell hybrids, Abonia et al. (1993) confirmed the assignment of the AGT locus to chromosome 1. They showed, furthermore, that the homologous gene in the mouse is on the distal end of chromosome 8; a short region of conserved linkage homology between mouse chromosome 8 and human chromosome 1 was indicated by the mapping also of the skeletal alpha-actin locus (102610) to mouse chromosome 8 and human chromosome 1. Gene Function Karlsson et al. (1998) analyzed the expression of angiotensinogen and enzymes required for its conversion to angiotensin II in human adipose tissue. Northern blot analysis demonstrated angiotensinogen expression in adipose tissue from 9 obese subjects. Western blot analysis showed a distinct band of expected size of the angiotensinogen protein (61 kD) in isolated adipocytes. RT-PCR and Southern blot analysis demonstrated renin expression in human adipose tissue. Angiotensin-converting enzyme mRNA was detected by RT-PCR, and the identity of the PCR products was verified by restriction enzyme cleavage. Transcripts for cathepsin D (116840) and cathepsin G (116830), components of the nonrenin-angiotensin systems, were detected by RT-PCR and verified by restriction enzyme cleavage. The authors concluded that human adipose tissue expresses angiotensinogen and enzymes of renin- and nonrenin-angiotensin systems. Hypertrophy is a fundamental adaptive process occurring in postmitotic cardiac and skeletal muscle in response to mechanical load. Using an in vitro model of load-induced cardiac hypertrophy, Sadoshima et al. (1993) demonstrated that mechanical stress causes release of angiotensin II from cardiac myocytes and that angiotensin II acts as an initial mediator of the hypertrophic response. The results not only provided direct evidence for the autocrine mechanism in load-induced growth of cardiac muscle cells, but also defined a pathophysiologic role of the local (cardiac) renin-angiotensin system. To analyze the influence of the M235T polymorphism (106150.0001) on the ethinylestradiol-induced increase in plasma AGT concentration and on the resulting generation of Ang I and Ang II in plasma, Azizi et al. (2000) compared changes in the circulating renin-angiotensin system after short-term (2 days) and repeated (7 days) administration of 50 microg ethinylestradiol in homozygous normotensive men (TT and MM). In the 7-day study, TT subjects had higher peak plasma AGT concentrations than did MM subjects. The more pronounced AGT increase in TT subjects resulted in similar plasma renin activity at a lower plasma active renin concentration, with a higher plasma renin activity/active renin ratio. The authors concluded that the T235 AGT allele is associated with increased AGT secretion in plasma after ethinylestradiol administration. In the short term, complete readjustment of the circulating renin-angiotensin system occurs, through a decrease in renin release, which blunts the effects of the increase in AGT concentration. Aldosterone enhances angiotensin II-induced PAI1 (173360) expression in vitro. Sawathiparnich et al. (2003) tested the hypothesis that angiotensin II type 1 and aldosterone receptor (600983) antagonism interact to decrease PAI1 in humans. Effects of candesartan, spironolactone, or combined candesartan/spironolactone on mean arterial pressure, endocrine, and fibrinolytic variables were measured in 18 normotensive subjects in whom the renin-angiotensin-aldosterone system was activated by furosemide. This study evidenced an interactive effect of endogenous angiotensin II and aldosterone on PAI1 production in humans. Albumin (ALB; 103600) endocytosis in renal proximal tubule cells through a clathrin- and receptor-mediated mechanism initiates or promotes tubule-interstitial disease in several pathophysiologic conditions. Using LLC-PK1 porcine proximal tubule cells, Caruso-Neves et al. (2005) showed that Ang II increased albumin endocytosis through Agtr2 (300034)-mediated activation of protein kinase B (AKT1; 164730) in the plasma membrane, which depended on the basal activity of phosphatidylinositol 3-kinase (PI3K; see 601232). Montiel et al. (2005) found that ANG II enhanced FAK (PTK2; 600758) and paxillin (PXN; 602505) phosphorylation in human umbilical endothelial cells (HUVECs). ANG II induced a time- and dose-dependent augmentation of cell migration, but it did not affect HUVEC proliferation. Inhibitor studies indicated that FAK and paxillin phosphorylation induced HUVEC migration through signaling pathways dependent on PI3K and SRC family kinases (see 190090) and EGFR phosphorylation. Molecular Genetics Brand et al. (2002) measured plasma AGT levels and analyzed 7 biallelic AGT variants as candidate functional variants in 545 healthy French volunteers in 130 nuclear families that included 285 offspring. Analysis with the class D regressive model showed the most significant result at -532C-T (p = 0.000001), accounting for 4.3% of total plasma AGT variability in parents and 5.5% in offspring. Maximum likelihood estimates of haplotype frequencies and tests of linkage disequilibrium between each AGT polymorphism and a putative QTL were in agreement with a complete confounding of -532C-T with the QTL, when taking into account sex- and generation-specific effects of the QTL. However, further combined segregation-linkage analyses showed significant evidence for additional effects of the -6G-A, M235T (106150.0001), and 2054C-A polymorphisms after accounting for -532C-T, which supports a complex model with at least 2 functional variants within the AGT gene controlling AGT levels. ### Renal Tubular Dysgenesis Gribouval et al. (2005) studied 11 individuals with renal tubular dysgenesis (RTD; 267430) belonging to 9 families and found that they had homozygous or compound heterozygous mutations in the genes encoding angiotensinogen (see 106150.0003-106150.0005), renin (REN; 179820), angiotensin-converting enzyme (ACE; 106180), or angiotensin II receptor type 1 (AGTR1; 106165). They proposed that renal lesions and early anuria result from chronic low perfusion pressure of the fetal kidney, a consequence of renin-angiotensin system inactivity. This appeared to be the first identification of a renal mendelian disorder linked to genetic defects in the renin-angiotensin system, highlighting the crucial role of the renin-angiotensin system in human kidney development. ### Association with Hypertension Jeunemaitre et al. (1992) reported results from a collaborative study of AGT in 215 sibships, each with 2 or more hypertensive subjects ascertained from American and French study populations, a total of 379 sib pairs. The study provided evidence for involvement of AGT in the pathogenesis of essential hypertension (145500). In each of the samples, they found genetic linkage between essential hypertension and AGT in affected sibs, association between hypertension and certain molecular variants of AGT as revealed by a comparison between cases and controls, and increased concentrations of plasma angiotensinogen in hypertensive subjects who carry a common variant of AGT strongly associated with hypertension. Among the 15 molecular variants of AGT that had been identified, significant association with hypertension was observed with 2 amino acid substitutions, M235T (106150.0001) and T174M. These 2 variants exhibited complete linkage disequilibrium, as T174M occurred on a subset of the haplotypes carrying the M235T variant, and both haplotypes were observed at higher frequency among hypertensives. Several interpretations can be proposed to account for this observation: M235T directly mediates a predisposition to hypertension; an unidentified risk factor is common to both haplotypes; or each haplotype harbors a distinct risk factor. Caulfield et al. (1994) could find no association between essential hypertension and either the M235T or the T174M variant. On the other hand, studies in a distinct, ethnically homogeneous population, namely Japanese, showed that the same variant, T235, is associated with essential hypertension (Hata et al., 1994). In the Japanese study, the population frequency of the T235 variant was found to be higher than among Caucasian subjects. Because of the involvement of angiotensinogen in salt homeostasis, T235 may be a marker for a salt-sensitive form of essential hypertension. Epidemiologic studies documented a striking gradient of increasing prevalence of hypertension and stroke mortality from south to north Japan (Takahashi et al., 1957), which correlates with a parallel rise in average daily salt intake (Sasaki, 1964). The observation that plasma and angiotensinogen levels correlate with blood pressure and track through families suggested that angiotensinogen may have a role in essential hypertension. Caulfield et al. (1994) therefore investigated linkage between the AGT gene and essential hypertension in 63 white European families in which 2 or more members had essential hypertension. To test for linkage they used a dinucleotide repeat marker flanking the gene on 1q42-q43 and adopted the affected-pedigree-member method of linkage analysis (Weeks and Lange, 1988). In this approach, a t-statistic is computed that tests whether affected relatives share alleles at the AGT locus more often than would be expected by chance. Linkage was detected (t = 5.00, p less than 0.001). Among the Hutterites, a North American religious genetic isolate (Hostetler, 1974), Hegele et al. (1994) tested for association between variation in systolic and diastolic blood pressures and the insertion/deletion polymorphism of ACE (106180) and 2 protein polymorphisms of AGT, namely, M235T and T174M. The genotypes of AGT codon 174 were significantly associated with variation in systolic blood pressure in men and accounted for 3.1% of the total variation. Hegele et al. (1996) provided further information on this association and that of the genotype of apoB codon 4154 (107730) in association with variation in systolic blood pressure in Hutterites. In a study in African Caribbeans from St. Vincent and the Grenadines, Caulfield et al. (1995) tested for linkage between the AGT gene and hypertension by analyzing 63 affected sib pairs for an excess of allele sharing, using an AGT dinucleotide repeat sequence as an indicator. There was significant support for linkage (p = 0.001) and association (p less than 0.001) of AGT to hypertension. However, they found no association of the M235T variant (106150.0001) with hypertension in this study of African Caribbeans. As outlined earlier, the strongest evidence implicating a gene as the cause of human essential hypertension is for the AGT gene (Jeunemaitre et al., 1992). Davisson et al. (1997) reported studies designed to determine whether elements of the human renin-angiotensin system could functionally replace elements of the mouse renin-angiotensin system by complementing the reduced survival and renal abnormalities observed in mice carrying a gene-targeted deletion of the mouse angiotensinogen gene. These studies established that the human renin and angiotensinogen genes can functionally replace the mouse angiotensinogen gene, and provided proof that, in principle, one can examine the regulation of elements of the human renin-angiotensin system, and test the significance of human renin-angiotensin system gene variants, by a combined transgenic and gene-targeting approach. Because of previous demonstrations of association between angiotensinogen and essential hypertension in white Europeans, African-Caribbeans, and Japanese, Niu et al. (1998) investigated whether the ATG gene is similarly implicated in the pathogenesis of essential hypertension in Chinese by carrying out linkage analysis in 310 hypertensive sib pairs. Genotypes were determined for 2 diallelic DNA polymorphisms observed at amino acid residues 174 (thr174 to met; T174M) and 235 (met235 to thr; M235T; 106150.0001) within the coding sequence and for 2 highly informative dinucleotide (GT)-repeat sequences (1 in the 3-prime flanking region and 1 at a distance of 6.1 cM from the gene). Affected sib-pair analysis conducted according to 3 different algorithms revealed no evidence for linkage of the AGT gene to hypertension. Niu et al. (1998) suggested that ethnicity may make a significant difference in the role of various genes in certain complex traits. Nakajima et al. (2002) determined the complete genomic sequence of AGT and performed a scan of 14.4 kb for sequence variation in AGT. They found 44 single-nucleotide polymorphisms (SNPs) and a microsatellite in whites and Japanese. To infer the ancestral state of each SNP, the chimpanzee sequence was also completed. They evaluated haplotypes and the pattern of linkage disequilibrium (LD) in AGT to provide empirical information on the utility of LD for detection of disease genes. Despite an overall similarity in LD patterns in the 2 populations, they found a much higher frequency of the M235-associated haplotype in the white population. Wang et al. (1999) evaluated AGT as a candidate gene for hypertension by means of sib pair analysis with multiple microsatellite markers surrounding this locus. They also performed an association study of the AGT variants in unrelated subjects with a strong family history (2 affected parents). For the linkage study, single and multiplex PCR and automated gene scan analysis were conducted on DNA from 175 Australian Anglo-Celtic Caucasian hypertensives. Statistical evaluation of genotype data by nonparametric methods resulted in exclusion scores. In this study, Wang et al. (1999) excluded AGT in the etiology of hypertension, at least in the population of Australian Anglo-Celtic Caucasians studied. In a study of hypertensive patients, Nakajima et al. (1999) identified a mutation at the -30 amino acid position of the angiotensinogen signal peptide, in which an arginine was replaced by a proline (R-30P). Heterozygous individuals with R-30P showed a tendency to lowered plasma angiotensinogen levels compared with normal individuals in the family. Because of the small number of family members available for study, a possible relationship between the mutation and essential hypertension could not be addressed. Human angiotensinogen mRNA has 2 in-phase translation initiation codons (AUG) starting upstream 39 and 66 nucleotides from the cap site. R-30P occurs in a cluster of basic residues adjacent to the first AUG codon that may affect intracellular sorting of the nascent protein. To dissect the genetic pathway of hypertension, Guo et al. (1999) measured angiotensinogen in 685 members of 186 families from a rural community in southwest Nigeria. Commingling and segregation analyses were performed. A mixture of 2 and/or 3 distributions fitted the data significantly better than a single distribution in commingling analysis, suggesting a major gene effect. Segregation analysis confirmed that a recessive major gene model for low values of angiotensinogen provided the best fit to the data and about 13% of the variance was due to the recessive gene segregation. Nakajima et al. (2002) examined the potential impact of the G-A polymorphism 6-bp upstream from the initiation site of transcription (-6G-A; 106150.0002) on AGT promoter function. Screening an expression library with a double-stranded DNA segment centered on -6 led to the isolation of cDNA clones encoding the YB1 protein (NSEP1; 154030). The specificity of the interaction of YB1 with the proximal promoter of AGT was verified by Southwestern blotting and gel mobility shift assays. In cotransfection experiments, YB1 reduced basal AGT promoter activity in a dose-dependent manner. Although these observations suggested a possible role for YB1 in modulating AGT expression, this function was thought likely to occur in the context of complex interactions involving other nuclear factors. In a case-control study of 186 African American and 127 Caucasian patients with hypertension and 156 African American and 135 Caucasian normotensive controls, Markovic et al. (2005) found that subjects with the AA or AG genotype of the -793A-G promoter SNP were significantly more likely to have hypertension (OR = 1.88). Additionally, the differences in haplotype frequency distributions between cases and controls were significant at the 7% level for all 4 subgroups (stratified by race and sex). Gu et al. (2005) examined a hypothesis that multiple genetic variants in the renin-angiotensin system act together in blood pressure regulation, via intermediate phenotypes such as blood pressure reactivity. They found that genetic variants in regulatory regions of the AGT gene showed strong association with blood pressure reactivity. ### Association with Coronary Heart Disease In a New Zealand study of 422 patients with documented coronary heart disease and 406 controls without known coronary heart disease (matched to cases by age and sex), Katsuya et al. (1995) concluded that the T235 of AGT is an independent risk factor that carries an approximately 2-fold increased risk of coronary heart disease. In that study, however, ACE DD (106180.0001) is not associated with any detectable increase in coronary heart disease risk. ### Association with Nonfamilial Structural Atrial Fibrillation Tsai et al. (2004) analyzed polymorphisms of the AGT, ACE, and angiotensin II type I receptor (AGTR1; 106165) genes in 250 patients with documented nonfamilial structural atrial fibrillation and 250 controls matched for age, sex, presence of left ventricular dysfunction, and presence of significant valvular heart disease. In multilocus haplotype analysis, the AGT gene haplotype profile was significantly different between cases and controls (p = 0.0002). In single-locus analysis, the M235T, -6G-A, and -217G-A polymorphisms of the AGT gene were significantly associated with atrial fibrillation. Significant gene-gene interactions between the ACE insertion/deletion (106180.0001) and AGT and AGTR1 polymorphisms were detected. Tsai et al. (2004) concluded that renin-angiotensin system gene polymorphisms are associated with nonfamilial structural atrial fibrillation. ### Association with Inflammatory Bowel Disease Hume et al. (2006) analyzed 2 cohorts of Australian patients with inflammatory bowel disease (see 266600) and sex- and age-matched controls for the -6G-A promoter polymorphism of the AGT gene (106150.0002) and found a significant association between the -6 AA genotype and Crohn disease in 1 cohort (p = 0.007) and in the 2 cohorts combined (p = 0.008). ### Association with Susceptibility to Microvascular Complications of Diabetes 3 In a study of patients with insulin-dependent diabetes mellitus (IDDM; 222100) who had developed proliferative retinopathy (MVCD3, 612624), Marre et al. (1997) found evidence of an interaction between the ACE I/D (106180.0001) and AGT M235T (106150.0001) polymorphisms that could account for the degree of renal involvement, although M235T was not contributive alone. Biochemical Features ### Crystal Structure Zhou et al. (2010) solved the crystal structure of angiotensinogen to 2.1-angstrom resolution and showed that the angiotensin cleavage site is inaccessibly buried in its amino-terminal tail. The conformational rearrangement that makes this site accessible for proteolysis was revealed in a 4.4-angstrom structure of the complex of human angiotensinogen with renin (179820). The coordinated changes involved are critically linked by a conserved but labile disulfide bridge. Zhou et al. (2010) showed that the reduced unbridged form of angiotensinogen is present in the circulation in a near 40:60 ratio with the oxidized sulfydryl-bridged form, which preferentially interacts with receptor-bound renin. Zhou et al. (2010) proposed that this redox-responsive transition of angiotensinogen to a form that will more effectively release angiotensin at a cellular level contributes to the modulation of blood pressure. Specifically, Zhou et al. (2010) demonstrated the oxidative switch of angiotensinogen to its more active sulfydryl-bridged form in the maternal circulation in preeclampsia (see 189800). Animal Model Tanimoto et al. (1994) generated angiotensinogen-deficient mice by homologous recombination in mouse embryonic stem cells. These mice do not produce angiotensinogen in the liver, resulting in the complete loss of plasma immunoreactive angiotensin I. The systolic blood pressure of the homozygous mutant mice was 66.9 +/- 4.1 mm Hg, as compared with 100.4 +/- 4.4 mm Hg in wildtype mice. The findings demonstrated an indispensable role for the renin-angiotensin system in maintaining blood pressure. Ding et al. (2001) supplied human renin and the kidney-specific angiotensinogen transgene to Agt -/- mice but could not rescue lethality. Angiotensinogen protein and functional angiotensin II was generated in the kidney, and the kidney-specific transgene was temporally expressed during renal development similar to the endogenous AGT gene. Ding et al. (2001) concluded that their data strongly support the notion that the loss of systemic AGT, but not intrarenal AGT, is responsible for death in the Agt -/- mouse model. Ding et al. (2001) also concluded that the intrarenal renin-angiotensin system located in the proximal tubule plays an important role in blood pressure regulation and may cause hypertension if overexpressed, but may not be required for continued development of the kidney after birth. The angiotensinogen M235T polymorphism (106150.0001) in humans is linked to differential expression of the AGT gene and hypertension. Kim et al. (2002) investigated how mice responded to 5 genetically determined levels of mouse Agt gene expression covering the range associated with the M235T variants. By using high-throughput molecular phenotyping, tissue RNAs were assayed for expression of 10 genes important in hypertension. Significant positive and negative responses occurred in both sexes as Agt expression increased 2-fold, including a 3-fold increase in aldosterone synthase (ALDOS; 124080) expression in adrenal gland, and a 2-fold decrease in renin expression in kidney. In males, cardiac expression of the precursor of atrial natriuretic peptide B (600295) and of adrenomedullin (ADM; 103275) also increased approximately 2-fold. The relative expression of all genes studied, except Agt, differed significantly in the 2 sexes, and several unexpected relationships were encountered. The correlation between blood pressure and liver Agt expression within the 5 Agt genotypes was significant in females but not in males, whereas correlation of blood pressure with differences between the genotypes was less in females than in males. Kim et al. (2002) concluded that the marked gender differences in gene expression in wildtype mice and the changes induced by moderate alterations in Agt expression and blood pressure emphasized the need to look for similar differences in humans. Using a transgenic strategy, Lochard et al. (2003) restored angiotensin II exclusively in the brains of Agt-deficient mice. Restoration of brain angiotensin II corrected the hydronephrosis and partially corrected the renal dysfunction associated with loss of Agt expression. Lochard et al. (2003) concluded that the renin-angiotensin system affects renal development and function through systemically accessible targets in the brain. Lautrette et al. (2005) found that angiotensin II infusion in mice over 2 months produced severe renal lesions, mainly glomerulosclerosis, tubular atrophy and/or dilation with little microcyst formation, mild interstitial fibrosis, and multifocal mononuclear cell infiltration. In contrast, mice overexpressing a dominant-negative isoform of EGFR (131550) were protected from renal lesions during chronic angiotensin II infusion. Tgf-alpha (TGFA; 190170) and its sheddase, Tace (ADAM17; 603639), were induced by angiotensin II treatment, Tace was redistributed to apical membranes, and Egfr was phosphorylated. Angiotensin II-induced lesions were reduced in mice lacking Tgfa or in mice given a Tace inhibitor. Inhibition of angiotensin II prevented Tgfa and Tace accumulation and renal lesions after nephron reduction. Lautrette et al. (2005) concluded that EGFR transactivation is crucial for angiotensin II-associated renal deterioration. In Ets1 (164720)-null mice, Zhan et al. (2005) observed significantly reduced arterial wall thickening, perivascular fibrosis, and cardiac hypertrophy compared to wildtype mice in response to angiotensin II. The induction of 2 known targets of ETS1, CDKN1A (116899) and PAI1 (173360), by angiotensin II was markedly blunted in the aorta of Ets1-null mice compared with wildtype controls. Expression of MCP1 (CCL2; 158105) was similarly reduced, resulting in significantly diminished recruitment of T cells and macrophages to the vessel wall. Zhan et al. (2005) concluded that ETS1 has a critical role as a transcriptional mediator of vascular inflammation and remodeling in response to angiotensin II. Frank et al. (2007) generated Myoz2 (605602)-overexpressing transgenic mice, which did not exhibit a pathologic phenotype when unchallenged. Long-term infusion of angiotensin II resulted in a similar degree of hypertension in both transgenic and wildtype mice; in contrast to wildtype, however, the Myoz2-overexpressing mice did not develop cardiac hypertrophy, yet had no impairment of contractile function by cardiac catheterization and echocardiography. Induction of the hypertrophic gene program was markedly blunted and expression of the calcineurin-dependent gene MCIP1 (RCAN1; 602917) was significantly reduced in transgenic mice. Frank et al. (2007) concluded that the calsarcin-1 protein prevents angiotensin II-induced cardiomyocyte hypertrophy at least in part via inhibition of calcineurin signaling. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	ANGIOTENSINOGEN	c1862886	30,450	omim	https://www.omim.org/entry/106150	2019-09-22T16:45:03	{"omim": ["106150"], "synonyms": ["Alternative titles", "SERPINA8"]}
This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (March 2012) Malarial nephropathy SpecialtyNephrology Malarial nephropathy is kidney failure attributed to malarial infection. Among various complications due to infection, renal-related disorders are often the most life-threatening.[1] Including malaria-induced renal lesions, infection may lead to both tubulointerstitial damage and glomerulonephritis.[2] In addition, malarial acute kidney failure has emerged as a serious problem due to its high mortality rate in non-immune adult patients.[2][3] ## Contents * 1 Mechanism * 2 Treatment * 3 Epidemiology * 4 References ## Mechanism[edit] Due to the complex malarial syndrome, there are many pathogenic interactions leading to acute renal failure, such as hypovolemia, intravascular hemolysis and disseminated intravascular coagulation.[1][2][3] Malarial acute renal failure prevents the kidneys from efficiently removing excess fluid, electrolytes and waste material from the blood.[1][2][3][4] The accumulation of these fluids and material will cause adverse consequences for the patient including, electrolyte abnormality and increased urinary protein excretion.[4] ## Treatment[edit] Untreated patients often face a large number of physical complications, but early diagnosis and effective treatment can reduce the high risk of mortality in patients.[1][2][3] A three-pronged approach against infection is regularly needed for successful treatment. antimalarial drug therapy (e.g., artemisinin derivatives), fluid replacement (e.g., oral rehydration therapy), and if needed, renal replacement therapy.[1][2][3] ## Epidemiology[edit] Malarial nephropathies are reported in endemic areas, such as Southeast Asia, India, and Sub-Saharan Africa.[1][2][3] The pathogenesis of acute kidney injury in severe malaria is unspecific and multifactorial—it affects fewer than 4.8 percent of cases, but reports a high risk of mortality (15 to 45 percent).[1][2][3] Histologic evidence shows a large combination of pathogenic mechanisms at play—acute tubular necrosis, interstitial nephritis and glomerulonephritis.[1] Risk factors for malarial acute kidney injury include delayed diagnosis, high parasitemia, and clinical presentation of oliguria, low blood pressure, severe anemia, and jaundice. In addition, patients already suffering from diarrhea, hepatitis, or respiratory distress have a worse prognosis.[1][2][3] ## References[edit] 1. ^ a b c d e f g h i Barsoum, Rashad S. “Malarial Acute Renal Failure.” J Am Soc Nephrol 11 (2000): 2147-2154. 2. ^ a b c d e f g h i Das, B.S. “Renal failure in malaria.” J Vector Borne Dis. 45 (2008): 83-97. 3. ^ a b c d e f g h Manan, Junejo Abdul, Hassan Ali, and Manohar Lal. “Acute Renal Failure Associated with Malaria.” J Ayub Med Coll Abbottabad 4 (2006): 47-52. 4. ^ a b http://www.mayoclinic.com/health/kidney-failure/DS00280 [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Malarial nephropathy	None	30,451	wikipedia	https://en.wikipedia.org/wiki/Malarial_nephropathy	2021-01-18T18:32:35	{"wikidata": ["Q6741354"]}
Propulsive gait is a form of gait abnormality. ## Presentation[edit] Stiff, with head and neck bent.[1] ## Conditions associated with a propulsive gait[edit] * Carbon monoxide poisoning * Parkinson's disease[2] * Manganese Toxicity ## References[edit] 1. ^ Medline Plus 2. ^ Knutsson E (1972). "An analysis of Parkinsonian gait". Brain. 95 (3): 475–86. doi:10.1093/brain/95.3.475. PMID 4655275. * v * t * e Symptoms and signs relating to movement and gait Gait * Gait abnormality * CNS * Scissor gait * Cerebellar ataxia * Festinating gait * Marche à petit pas * Propulsive gait * Stomping gait * Spastic gait * Magnetic gait * Truncal ataxia * Muscular * Myopathic gait * Trendelenburg gait * Pigeon gait * Steppage gait * Antalgic gait Coordination * Ataxia * Cerebellar ataxia * Dysmetria * Dysdiadochokinesia * Pronator drift * Dyssynergia * Sensory ataxia * Asterixis Abnormal movement * Athetosis * Tremor * Fasciculation * Fibrillation Posturing * Abnormal posturing * Opisthotonus * Spasm * Trismus * Cramp * Tetany * Myokymia * Joint locking Paralysis * Flaccid paralysis * Spastic paraplegia * Spastic diplegia * Spastic paraplegia * Syndromes * Monoplegia * Diplegia / Paraplegia * Hemiplegia * Triplegia * Tetraplegia / Quadruplegia * General causes * Upper motor neuron lesion * Lower motor neuron lesion Weakness * Hemiparesis Other * Rachitic rosary * Hyperreflexia * Clasp-knife response This medical sign article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Propulsive gait	c0231694	30,452	wikipedia	https://en.wikipedia.org/wiki/Propulsive_gait	2021-01-18T18:49:29	{"mesh": ["D020233"], "wikidata": ["Q7250458"]}
Abortion in Samoa is only legal if the abortion will save the mother's life or preserve her physical or mental health and only when the gestation period is less than 20 weeks.[1] In Samoa, if an abortion is performed on a woman for any other reason, or if a woman performs a self-induced abortion, the violator is subject to seven years in prison.[1] ## Contents * 1 History * 1.1 Crimes Ordinance 1961 * 1.2 Crimes Amendment Act of 1969 * 1.3 Crimes Act 2013 * 2 Current Events * 2.1 National HIV, AIDS, and STI Policy 2017–2022 * 2.2 Committee on the Elimination of Discrimination against Women * 3 See also * 4 References * 5 Further reading ## History[edit] Samoan Abortion law was defined in the Crimes Ordinance 1961 and amended by the Crimes Amendment Act of 1969.[2] ### Crimes Ordinance 1961[edit] The Crimes Ordinance 1961 implicitly defined abortion as an action which caused the death of an unborn child and was not taken in good faith for preservation of the life of the mother. This carried a prison term of up to fourteen years if the action was deemed to be murder, or five years if the action was deemed to be manslaughter. > 73\. Killing unborn child > > * (1) Every one is liable to imprisonment for a term not exceeding 14 years who causes the death of any child that has not become a human being in such a manner that he would have been guilty of murder if the child had become a human being. > * (2) Every one is liable to imprisonment for a term not exceeding 5 years who causes the death of any child that has not become a human being in such a manner that he would have been guilty of manslaughter if the child had become a human being. > * (3) No one is guilty of any crime who before or during the birth of any child causes its death by means employed in good faith for the preservation of the life of the mother. > — Crimes Ordinance 1961 §73[3] ### Crimes Amendment Act of 1969[edit] Crimes Amendment Act of 1969 inserted §§ 73A–73D into Crimes Ordinance 1961, explicitly defining abortion and stating that a violator of the following is liable to imprisonment for a term not exceeding seven years. [3] * Procuring abortion (§§73A) * Female procuring her own miscarriage (§§73B) * Supplying means of procuring abortion (§§73C) * Effectiveness of means used immaterial (§§73D) ### Crimes Act 2013[edit] Crimes Ordinance 1961 was replaced by the Crimes Act 2013,[4] stating that the following are illegal and the violator is liable to imprisonment for a term not exceeding seven years: * Procuring abortion by any means (§112) * Female procuring her own miscarriage (§113) * Supplying means of procuring abortion (§114) * Effectiveness of means used immaterial (§115) Unless: > [...] in the case of a pregnancy of not more than 20 weeks’ gestation, the person doing the act: > > * (a) is a registered medical practitioner; and > * (b) believes that the continuance of the pregnancy would result in serious danger (not being danger normally attendant upon childbirth) to the life, or to the physical or mental health, of the woman or girl. > — Crimes Act 2013 §116[5] ## Current Events[edit] ### National HIV, AIDS, and STI Policy 2017–2022[edit] In 2017, the Samoan Ministry of Health produced a document entitled National HIV, AIDS, and STI Policy 2017–2022 containing an analysis of abortion law in the Crimes Act 2013. This argues that the term "serious danger to [...] mental health" would potentially apply to suicide risk, rape, incest, and childhood pregnancy. This analysis clashes with the WHO Abortion Policies Database on the subject.[1] > The cases above demonstrate, given the definition of ‘unlawfully’, the abortion provisions do not apply where the pregnant woman was contemplating suicide or was raped. Presumably the provision regarding serious danger to the ‘mental health’ of the woman or girl would extend to further circumstances. For example, where pregnancy is the product of an incestuous relationship, where the pregnant girl is very young and arguably other circumstances that would create significant negative emotional consequences for the woman where it is believed this would lead to a serious danger to her mental health — National HIV, AIDS, and STI Policy 2017–2022 pp.60 The document called for the law the be amended to address abortion for HIV positive women as well as "a legal analysis to assess the law, the interpretation, the inconsistency of case law, and ultimate population access to quality services". [6][7] Prime Minister Tuilaepa Lupesoliai Sailele Malielegaoi opposed these recommendations stating > “Government will never ever accept legalizing abortion for any purposes regardless. > “It is murder and similar to giving our women the license to kill. > “And that is absolutely against our religious Christian values, and beliefs. It’s also totally against our culture and our way of life. > > — Prime Minister Tuilaepa Lupesoliai Sailele Malielegaoi, Statement from Ministry of the Prime Minister and Cabinet Press Secretary[8][9] ### Committee on the Elimination of Discrimination against Women[edit] In 2018, the Committee on the Elimination of Discrimination against Women (CEDAW) recommended that the state party should amend the Crimes Act. > Amend the Crimes Act to legalize abortion, at least in cases of rape, incest, severe fetal impairment and risk to the health or life of the pregnant woman, and to decriminalize abortion in all other cases, and set a clear timetable for implementation; — Concluding observations on the sixth periodic report of Samoa[10] ## See also[edit] * Abortion * Abortion law * Abortion debate * Religion and abortion * Societal attitudes towards abortion ## References[edit] 1. ^ a b c "Country Profile: Samoa". WHO Global Abortion Policies Database. 2018-11-14. Retrieved 2019-08-14. 2. ^ Abortion Policies: Oman to Zimbabwe. United Nations Publications. 2001. ISBN 9789211513653. Retrieved 23 November 2014. 3. ^ a b "Samoa - Crimes Ordinance 1961 (1961, No. 13)". International Labour Organization. Retrieved 2019-08-14. 4. ^ "Samoa - Crimes Act 2013 (2013, No. 10)". International Labour Organization. Retrieved 2019-08-14. 5. ^ "Crimes Act 2013". Act of 2013 (PDF). p. 52-54. Retrieved 2019-08-14. 6. ^ "National HIV, AIDS, and STI Policy 2017–2022" (PDF). Archived from the original (PDF) on 2017-10-16. 7. ^ "Govt. urged to amend abortion law". Samoa Observer. 2017-08-29. Retrieved 2019-08-14. 8. ^ "PM on Abortion and Same Sex Marriage". Facebook. 2017-08-31. Retrieved 2019-08-14. 9. ^ "Abortion is "murder" and "license to kill"". Samoa Observer. 2017-09-02. Retrieved 2019-08-14. 10. ^ "Concluding observations on the sixth periodic report of Samoa". Committee on the Elimination of Discrimination against Women. 2018-11-14. p. 12. Retrieved 2019-08-14. ## Further reading[edit] * "Police V. Apelu". Legal Information Institute. Retrieved 2019-08-14. * v * t * e Abortion in Oceania Sovereign states * Australia * Federated States of Micronesia * Fiji * Kiribati * Marshall Islands * Nauru * New Zealand * Palau * Papua New Guinea * Samoa * Solomon Islands * Tonga * Tuvalu * Vanuatu Associated states of New Zealand * Cook Islands * Niue Dependencies and other territories * American Samoa * Christmas Island * Cocos (Keeling) Islands * Easter Island * French Polynesia * Guam * Hawaii * New Caledonia * Norfolk Island * Northern Mariana Islands * Pitcairn Islands * Tokelau * Wallis and Futuna * v * t * e Abortion Main topics * Definitions * History * Methods * Abortion debate * Philosophical aspects * Abortion law Movements * Abortion-rights movements * Anti-abortion movements Issues * Abortion and mental health * Beginning of human personhood * Beginning of pregnancy controversy * Abortion-breast cancer hypothesis * Anti-abortion violence * Abortion under communism * Birth control * Crisis pregnancy center * Ethical aspects of abortion * Eugenics * Fetal rights * Forced abortion * Genetics and abortion * Late-term abortion * Legalized abortion and crime effect * Libertarian perspectives on abortion * Limit of viability * Malthusianism * Men's rights * Minors and abortion * Natalism * One-child policy * Paternal rights and abortion * Prenatal development * Reproductive rights * Self-induced abortion * Sex-selective abortion * Sidewalk counseling * Societal attitudes towards abortion * Socialism * Toxic abortion * Unsafe abortion * Women's rights By country Africa * Algeria * Angola * Benin * Botswana * Burkina Faso * Burundi * Cameroon * Cape Verde * Central African Republic * Chad * Egypt * Ghana * Kenya * Namibia * Nigeria * South Africa * Uganda * Zimbabwe Asia * Afghanistan * Armenia * Azerbaijan * Bahrain * Bangladesh * Bhutan * Brunei * Cambodia * China * Cyprus * East Timor * Georgia * India * Iran * Israel * Japan * Kazakhstan * South Korea * Malaysia * Nepal * Northern Cyprus * Philippines 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Paraguay * Peru * Suriname * Uruguay * Venezuela Law * Case law * Constitutional law * History of abortion law * Laws by country * Buffer zones * Conscientious objection * Fetal protection * Heartbeat bills * Informed consent * Late-term restrictions * Parental involvement * Spousal consent Methods * Vacuum aspiration * Dilation and evacuation * Dilation and curettage * Intact D&X * Hysterotomy * Instillation * Menstrual extraction * Abortifacient drugs * Methotrexate * Mifepristone * Misoprostol * Oxytocin * Self-induced abortion * Unsafe abortion Religion * Buddhism * Christianity * Catholicism * Hinduism * Islam * Judaism * Scientology * Category [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Abortion in Samoa	None	30,453	wikipedia	https://en.wikipedia.org/wiki/Abortion_in_Samoa	2021-01-18T19:02:34	{"wikidata": ["Q19568862"]}
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Autosomal recessive spastic paraplegia type 76	c4310800	30,454	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=488594	2021-01-23T17:00:50	{"omim": ["616907"], "synonyms": ["SPG76"]}
Familial myxovascular fibromas present with multiple verrucous papules on the palms and fingers, which on biopsy show focal neovascularization and mucin-like changes in the papillary dermis.[1]:609 ## See also[edit] * List of cutaneous conditions ## References[edit] 1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0. This Dermal and subcutaneous growths article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Familial myxovascular fibromas	None	30,455	wikipedia	https://en.wikipedia.org/wiki/Familial_myxovascular_fibromas	2021-01-18T18:34:01	{"wikidata": ["Q5432944"]}
Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Squamous cell carcinoma of liver and intrahepatic biliary tract	None	30,456	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424975	2021-01-23T16:57:12	{"icd-10": ["C22.0", "C22.1"], "synonyms": ["Squamous cell carcinoma of liver and IBT"]}
Microcytosis SpecialtyHematology Microcytosis or microcythemia[1] is a condition in which red blood cells are unusually small as measured by their mean corpuscular volume.[2] When associated with anemia, it is known as microcytic anemia. ## Contents * 1 Causes * 2 Treatment * 3 See also * 4 References * 5 External links ## Causes[edit] Microcytic anemia is not caused by reduced DNA synthesis[citation needed]. Thalassemia can cause microcytosis. Depending upon how the terms are being defined, thalassemia can be considered a cause of microcytic anemia, or it can be considered a cause of microcytosis but not a cause of microcytic anemia. There are many causes of microcytosis, which is essentially only a descriptor. Cells can be small because of mutations in the formation of blood cells (hereditary microcytosis) or because they are not filled with enough hemoglobin, as in iron-deficiency-associated microcytosis. Red blood cells can be characterised by their haemoglobin content as well as by their size. The haemoglobin content is referred to as the cell's colour. Therefore, there are both "normochromic microcytotic red cells" and "hypochromic, microcytotic red cells". The normochromic cells have a normal concentration of haemoglobin, and are therefore 'red enough' while the hypochromic cells do not; thus the value of the mean corpuscular hemoglobin concentration. The most common cause of microcytosis is iron deficiency anemia. Every time Hb synthesis being impaired in bone marrow microcytosis can occurs such as iron deficiency and Hb pathy may occur in fact when Hb production was impaired: size of each RBCs is decrease in early stage to save mean corpuscular Hb concentration : ie MCHC: so MCV is decreased as compensating mechanism ## Treatment[edit] This section is empty. You can help by adding to it. (May 2018) ## See also[edit] * Macrocytosis ## References[edit] 1. ^ "microcythemia" at Dorland's Medical Dictionary 2. ^ Mach-Pascual S, Darbellay R, Pilotto PA, Beris P (July 1996). "Investigation of microcytosis: a comprehensive approach". Eur. J. Haematol. 57 (1): 54–61. doi:10.1111/j.1600-0609.1996.tb00490.x. PMID 8698132. ## External links[edit] Classification D * ICD-10: R71 * DiseasesDB: 8192 * v * t * e Blood film findings Red blood cells Size * Anisocytosis * Macrocytosis * Microcytosis Shape * Poikilocytosis * Membrane abnormalities * Acanthocyte * Codocyte * Elliptocyte * Hereditary elliptocytosis * Spherocyte * Hereditary spherocytosis * Dacrocyte * Echinocyte * Schistocyte * Degmacyte * Sickle cell/drepanocyte * Sickle cell disease * Stomatocyte * Hereditary stomatocytosis Colour * Anisochromia * Hypochromic anemia * Polychromasia Inclusion bodies * Developmental * Howell–Jolly body * Basophilic stippling * Pappenheimer bodies * Cabot rings * Hemoglobin precipitation * Heinz body Other * Red cell agglutination * Rouleaux White blood cells Lymphocytes * Reactive lymphocyte * Smudge cell * Russell bodies Granulocytes * Hypersegmented neutrophil * Arneth count * Pelger–Huët anomaly * Döhle bodies * Toxic granulation * Toxic vacuolation * Critical green inclusion * Alder–Reilly anomaly * Jordans' anomaly * Birbeck granules * Left shift Other * Auer rod * Biology portal * Medicine portal This article related to pathology is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Microcytosis	c0221265	30,457	wikipedia	https://en.wikipedia.org/wiki/Microcytosis	2021-01-18T19:00:30	{"umls": ["C0221265"], "wikidata": ["Q1091552"]}
A rare dendritic cell neoplasm characterized by a proliferation of spindled to ovoid cells with morphological and immunophenotypic features of follicular dendritic cells. Conventional follicular dendritic cell sarcomas are negative for EBV. The tumor arises as a painless, slow-growing mass in lymph nodes (most often cervical), extranodal sites (such as tonsils, gastrointestinal tract, soft tissue, mediastinum, or lung, among others), or both. Paraneoplastic pemphigus may occur in rare cases. Predictive factors are tumor size, presence of coagulative necrosis, mitotic count, and presence of significant cytological atypia. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Follicular dendritic cell sarcoma	c1260325	30,458	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86902	2021-01-23T18:11:24	{"mesh": ["D054740"], "umls": ["C1260325"], "icd-10": ["C96.4"]}
In a sibship of 7 without parental consanguinity, Franceschetti and Gernet (1965) found 4 (3 males, 1 female) with marked microphthalmia diagnosed by ultrasound, with cornea of normal size. Associated ocular features were high-grade hyperopia, macrophakia, retinal degeneration reminiscent of fundus albipunctatus (136880) or fundus flavimaculatus (see 248200), hemeralopia, and glaucoma. All 4 affected individuals had extremely poor dentition; the sister had full dentures by 31 years of age. HEENT \- Microphthalmos \- Normal-sized cornea \- High-grade hypermetropia \- Macrophakia \- Retinal degeneration \- Glaucoma \- Dental anomalies Inheritance \- Autosomal recessive ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA, AND DENTAL ANOMALIES	c1968637	30,459	omim	https://www.omim.org/entry/251700	2019-09-22T16:25:06	{"mesh": ["C566884"], "omim": ["251700"]}
Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. Common signs and symptoms include painless jaundice, weight loss, and noncancerous masses in the pancreas and other organs. Treatment often involves corticosteroids. The condition may recur following treatment, and require additional therapy. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Autoimmune pancreatitis	c2609129	30,460	gard	https://rarediseases.info.nih.gov/diseases/10911/autoimmune-pancreatitis	2021-01-18T18:01:58	{"orphanet": ["103919"], "synonyms": ["Lymphoplasmocytic sclerosing pancreatitis"]}
A rare hereditary spastic paraplegia characterized by progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Autosomal dominant spastic paraplegia type 13	c1854467	30,461	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100994	2021-01-23T17:04:14	{"gard": ["9616"], "mesh": ["C537485"], "omim": ["605280"], "umls": ["C1854467"], "icd-10": ["G11.4"], "synonyms": ["SPG13"]}
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. ## Epidemiology More than 100 cases have been reported to date. Males and females are equally affected. ## Clinical description Disease onset is typically within the first few months of life, but may be detected in childhood with later onset nephrotic syndrome (NS). Clinical manifestations, primarily involving the kidney and central nervous system, are heterogeneous. Renal manifestations range from isolated proteinuria to full blown early-onset nephrotic syndrome (NS), which is multidrug resistant and rapidly progresses to end-stage kidney disease (ESKD). Neurodegenerative manifestations include progressive microcephaly of prenatal or postnatal onset, global development delay and often severe intellectual disability (most patients never reach independent ambulation and are not verbal) and, more variably, epilepsy, hypotonia, ataxia, spasticity and extrapyramidal dystonia. Structural brain abnormalities are variable and include neural migration defects (lissencephaly-pachygyria spectrum), cerebellar and cortical atrophy, ventricular dilation, encephalomalacia, porencephaly, leukomalacia, generalized hypomyelination, and/or thin corpus callosum. Dysmorphic features include short stature, facial dysmorphism (including a high, narrow forehead, hypertelorism, almond-shape eyes, large and low set ears, and micrognathia) and more variably arachnodactyly, camptodactyly and clasp thumb. Additional frequent features include hiatus hernia and ocular abnormalities (progressive optic atrophy, nystagmus and strabismus). ## Etiology Galloway-Mowat is a genetically heterogeneous condition with causative mutations in at least seven genes, four of which code subunits of Kinase, Endopeptidase and Other Proteins of small Size (KEOPS) complex. The most common form is associated with variations in OSGEP (14q11), are associated with early onset NS (median age 3 months). Whereas, mutations in WDR73 (15q25.2), encoding WD repeat-containing protein 73, or NUP107 (12q15), encoding Nuclear pore complex protein Nup107, are typically associated with a later onset NS. ## Diagnostic methods The coexistence of albuminuria and CNS abnormalities, or of CNS anomalies and functional visual impairment in infants and children is suggestive of the diagnosis. Molecular analysis may confirm the diagnosis. ## Differential diagnosis The main differential diagnoses include Pierson syndrome, ARHGDIA mutations, coenzyme Q deficiency, other mitochondrial disorders, sialidosis and congenital disorders of glycosylation. In patients with no renal involvement at the time of assessment, differential diagnosis extend to syndromes with progressive microcephaly (including those of prenatal onset) and CNS malformations such as the complex cortical dysplasias with other brain malformations (which encompass among others several dominant syndromes causes by mutation in the tubulin genes). ## Antenatal diagnosis The occurrence of microcephaly and intra-uterine growth retardation with oligohydramnios in late second trimester suggests the diagnosis and fetal MRI is recommended as further investigation. In cases with an identified causative mutation, prenatal diagnosis can be offered to the family. ## Genetic counseling The pattern of inheritance is either X-linked (LAGE3) with a 50% risk of recurrence in male siblings of a carrier mother, or autosomal recessive with a 25% risk of recurrence in both male and female siblings. ## Management and treatment There is no specific treatment available. Epilepsy may be intractable. The nephrotic syndrome does not respond to either steroid or immunosuppressive therapy. Renal transplant may be considered for ESKD. Multidisciplinary approach is encouraged to offer a global symptomatic care. ## Prognosis The prognosis is poor; children with early-onset NS typically die during the first year of life due to ESKD. Longer survival is reported for children with later onset NS. * European Reference Network [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Galloway-Mowat syndrome	c0795949	30,462	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2065	2021-01-23T19:03:59	{"gard": ["65"], "mesh": ["C537548"], "omim": ["251300", "301006", "617729", "617730", "617731", "618347", "618348", "618349"], "umls": ["C0795949"], "icd-10": ["Q04.3"], "synonyms": ["Galloway syndrome", "Microcephaly-hiatus hernia-nephrotic syndrome", "Nephrosis-neuronal dysmigration syndrome"]}
A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	X-linked intellectual disability, Pai type	None	30,463	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85322	2021-01-23T19:11:32	{"icd-10": ["Q87.8"]}
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair. ## Frequency More than 100 people have been diagnosed with ARCA1. This condition was first discovered in individuals from the Beauce and Bas-Saint-Laurent regions of Quebec, Canada, but it has since been found in populations worldwide. ## Causes Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the brain that coordinates movement. The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells (neurons). SYNE1 gene mutations that cause ARCA1 result in an abnormally short, dysfunctional version of the Syne-1 protein. The defective protein is thought to impair Purkinje cell function and disrupt signaling between neurons in the cerebellum. The loss of brain cells in the cerebellum causes the movement problems characteristic of ARCA1, but it is unclear how this cell loss is related to impaired Purkinje cell function. ### Learn more about the gene associated with Autosomal recessive cerebellar ataxia type 1 * SYNE1 ## Inheritance Pattern This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Autosomal recessive cerebellar ataxia type 1	c1853116	30,464	medlineplus	https://medlineplus.gov/genetics/condition/autosomal-recessive-cerebellar-ataxia-type-1/	2021-01-27T08:24:44	{"mesh": ["C565188"], "omim": ["610743"], "synonyms": []}
Specific developmental disorder SpecialtyPsychiatry Specific developmental disorders (SDD) was a classification of disorders characterized by delayed development in one specific area or areas.[1][2][3][4] Specific developmental disorders were contrasted to pervasive developmental disorders[4] which were characterized by delays in the development of multiple basic functions including socialization and communication.[5] ## Contents * 1 ICD-10 taxonomy * 2 DSM-III taxonomy * 3 Comparison and conditions * 4 See also * 5 References * 6 External links ## ICD-10 taxonomy[edit] The tenth revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10) has four categories of developmental disorders: specific developmental disorders of speech and language, specific developmental disorders of scholastic skills, specific developmental disorder of motor function, and mixed specific developmental disorder.[2][6] ## DSM-III taxonomy[edit] In the third edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III),[7] SDD was opposed to the pervasive developmental disorders (PDD). There were two factors that were considered: * The specificity of the impairment: in SDD there is one single domain that is affected, whereas in PDD multiple areas of functioning are affected.[8] * The nature of the impairment: development in SDD is delayed but not otherwise abnormal, whereas in PDD there are behavioral deviations that are not typical for any developmental stage.[8] In the DSM-IV, specific developmental disorders were no longer grouped together.[9] Instead they were reclassified as communication disorders, learning disorders, and motor skills disorders.[3] ## Comparison and conditions[edit] ICD-10[10] DSM-IV-TR[11] ICD-11[12] Specific developmental disorders of speech and language (F80): * Specific speech articulation disorder (F80.0) * Expressive language disorder (F80.1) * Receptive language disorder (F80.2) * Acquired aphasia with epilepsy Landau-Kleffner syndrome (F80.3) * Other developmental disorders of speech and language (F80.8) * Developmental disorder of speech and language, unspecified (F80.9) Communication disorders: * Expressive Language Disorder (315.31) * Mixed Receptive-Expressive Language Disorder (315.32) * Phonological Disorder (315.39) * Stuttering (307.0) * Communication Disorder Not Otherwise Specified (307.9) Developmental Speech & Language Disorders (6A01): * Developmental speech sound disorder (6A01.0) * Developmental speech fluency disorder (6A01.1) * Developmental language disorder (6A01.2) * Developmental language disorder with impairment of receptive and expressive language (6A01.20) * Developmental language disorder with impairment of mainly expressive language (6A01.21) * Developmental language disorder with impairment of mainly pragmatic language (6A01.22) * Developmental language disorder, with other specified language impairment (6A01.23) * Other specified developmental speech or language disorders (6A01.Y) * Developmental speech or language disorders, unspecified (6A01.Z) Specific developmental disorders of scholastic skills (F81): * Specific reading disorder (F81.0) * Specific spelling disorder (F81.1) * Specific disorder of arithmetical skills (F81.2) * Mixed disorder of scholastic skills (F81.3) * Other disorders of scholastic skills (F81.8) * Developmental disorder of scholastic skills, unspecified (F81.9) Learning disorders: * Reading Disorder (315.0) * Mathematics Disorder (315.1) * Disorder of Written Expression (315.2) * Learning Disorder Not Otherwise Specified (315.9) Developmental learning disorder (6A03): * Developmental learning disorder with impairment in reading (6A03.0) * Developmental learning disorder with impairment in written expression (6A03.1) * Developmental learning disorder with impairment in mathematics (6A03.2) * Developmental learning disorder with other specified impairment of learning (6A03.3) * Developmental learning disorder, unspecified (6A03.Z) * Specific developmental disorder of motor function (F82) Motor skills disorders: * Developmental coordination disorder (315.4) Developmental motor coordination disorder (6A04) * Mixed specific developmental disorder (F83) ## See also[edit] * Developmental disability ## References[edit] 1. ^ Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Arlington, VA: American Psychiatric Association. 2013. 2. ^ a b The Icd-10 Classification of Mental and Behavioural Disorders: Clinical Descriptions and Diagnostic Guidelines. Geneva: World Health Organization. 1992. 3. ^ a b Ahuja Vyas: Textbook of Postgraduate Psychiatry (2 Vols.), 2nd ed. 1999 4. ^ a b http://www.medterms.com/script/main/art.asp?articlekey=11249 5. ^ http://www.ninds.nih.gov/disorders/pdd/pdd.htm 6. ^ "ICD-10 Version:2010". apps.who.int. Retrieved 10 April 2018. 7. ^ Dennis Cantwell & Lorian Baker: Developmental Speech and Language Disorders, 1987, page 4 8. ^ a b Sir Michael Rutter, Eric A. Taylor: Child and Adolescent Psychiatry, 4th ed. 2005 9. ^ Robert Jean Campbell, III: Campbell's Psychiatric Dictionary, 2003, page 184 10. ^ http://apps.who.int/classifications/icd10/browse/2010/en#/F80 Reference for all ICD-10 disorders mentioned in the table. 11. ^ http://behavenet.com/apa-diagnostic-classification-dsm-iv-tr#301 Reference for all DSM-IV-TR disorders mentioned in the table. 12. ^ https://icd.who.int/browse11/l-m/en#/http%3a%2f%2fid.who.int%2ficd%2fentity%2f334423054 Reference for all ICD-11 disorders mentioned in the table ## External links[edit] Classification D * ICD-10: F80, F81, F82, F83 * ICD-9-CM: 307, 315 * v * t * e Dyslexia and related specific developmental disorders Conditions Speech, language, and communication * Expressive language disorder * Infantile speech * Landau–Kleffner syndrome * Language disorder * Lisp * Mixed receptive-expressive language disorder * Specific language impairment * Speech and language impairment * Speech disorder * Speech error * Speech sound disorder * Stuttering * Tip of the tongue Learning disability * Dyslexia * Dyscalculia * Dysgraphia * Disorder of written expression Motor * Developmental coordination disorder * Developmental verbal dyspraxia Sensory * Auditory processing disorder * Sensory processing disorder Related topics * Dyslexia research * Irlen filters * Learning Ally * Learning problems in childhood cancer * Literacy * Management of dyslexia * Multisensory integration * Neuropsychology * Reading acquisition * Spelling * Writing system Lists * Dyslexia in fiction * Languages by Writing System * People with dyslexia [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Specific developmental disorder	c0037785	30,465	wikipedia	https://en.wikipedia.org/wiki/Specific_developmental_disorder	2021-01-18T18:45:11	{"icd-9": ["315", "307"], "icd-10": ["F80", "F81", "F83"], "wikidata": ["Q7574983"]}
Human and animal disease Cowpox virus Electron micrograph of three Cowpox virus particles Virus classification (unranked): Virus Realm: Varidnaviria Kingdom: Bamfordvirae Phylum: Nucleocytoviricota Class: Pokkesviricetes Order: Chitovirales Family: Poxviridae Genus: Orthopoxvirus Species: Cowpox virus Cowpox Cowpox lesions on patient’s forearm on day 7 after onset of illness. The hemagglutinin gene of the isolate clustered with a Russian cowpox virus strain, and the more distantly, with other cowpox and vaccinia virus strains. The patient’s dog had orthopoxvirus-specific antibodies, indicating a possible transmission route.[1] SpecialtyInfectious disease, veterinary medicine Cowpox is an infectious disease caused by the cowpox virus. The virus, part of the genus Orthopoxvirus, is closely related to the vaccinia virus. The virus is zoonotic, meaning that it is transferable between species, such as from animal to human. The transferral of the disease was first observed in dairymaids who touched the udders of infected cows and consequently developed the signature pustules on their hands.[2] Cowpox is more commonly found in animals other than bovines, such as rodents. Cowpox is similar to, but much milder than, the highly contagious and often deadly smallpox disease.[2] Its close resemblance to the mild form of smallpox and the observation that dairy farmers[3] were immune to smallpox inspired the modern smallpox vaccine, created and administered by English physician Edward Jenner.[4] The word "vaccination", coined by Jenner in 1796,[4] is derived from the Latin adjective vaccinus, meaning "of or from the cow".[5] Once vaccinated, a patient develops antibodies that make them immune to cowpox, but they also develop immunity to the smallpox virus, or Variola virus. The cowpox vaccinations and later incarnations proved so successful that in 1980, the World Health Organization announced that smallpox was the first disease to be eradicated by vaccination efforts worldwide.[5] Other orthopox viruses remain prevalent in certain communities and continue to infect humans, such as the cowpox virus (CPXV) in Europe, vaccinia in Brazil, and monkeypox virus in Central and West Africa. ## Contents * 1 Medical use * 2 Origin * 2.1 Discovery * 2.2 Opposition * 3 Historical use * 3.1 British Parliament * 3.2 Kinepox * 4 Prevention * 5 Citations * 6 General sources ## Medical use[edit] Naturally occurring cases of cowpox were not common, but it was discovered that the vaccine could be “carried” in humans and reproduced and disseminated human-to-human. Jenner's original vaccination used lymph from the cowpox pustule on a milkmaid, and subsequent “arm-to-arm” vaccinations applied the same principle. As this transfer of human fluids came with its own set of complications, a safer manner of producing the vaccine was first introduced in Italy. The new method used cows to manufacture the vaccine using a process called “retrovaccination,” in which a heifer was inoculated with humanized cowpox virus, and it was passed from calf to calf to produce massive quantities efficiently and safely. This then led to the next incarnation, “true animal vaccine,” which used the same process but began with naturally-occurring cowpox virus, and not the humanized form.[citation needed] This method of production proved to be lucrative and was taken advantage of by many entrepreneurs needing only calves and seed lymph from an infected cow to manufacture crude versions of the vaccine. W. F. Elgin of the National Vaccine Establishment presented his slightly refined technique to the Conference of State and Provincial Boards of Health of North America. A tuberculosis-free calf, stomach shaved, would be bound to an operating table, where incisions would be made on its lower body. Glycerinated lymph from a previously inoculated calf was spread along the cuts. After a few days, the cuts would have scabbed or crusted over. The crust was softened with sterilized water and mixed with glycerin, which disinfected it, then stored hermetically-sealed in capillary tubes for later use.[citation needed] At some point, the virus in use was no longer cowpox, but vaccinia. Scientists have not determined exactly when the change or mutation occurred, but the effects of vaccinia and cowpox virus as vaccine are nearly the same.[6] The virus is found in Europe, and mainly in the UK. Human cases today are very rare and most often contracted from domestic cats. The virus is not commonly found in cattle; the reservoir hosts for the virus are woodland rodents, particularly voles. From these rodents, domestic cats contract and transmit the virus to humans.[7] Symptoms in cats include lesions on the face, neck, forelimbs, and paws, and less commonly upper respiratory tract infections.[8] Symptoms of infection with cowpox virus in humans are localized, pustular lesions generally found on the hands and limited to the site of introduction. The incubation period is 9 to 10 days. The virus is prevalent in late summer and autumn. ## Origin[edit] Cowpox (variola vaccina) pustules on a cow's udder ### Discovery[edit] In the years from 1770 to 1790, at least six people who had contact with a cow had independently tested the possibility of using the cowpox vaccine as an immunization for smallpox in humans. Among them were the English farmer Benjamin Jesty, in Dorset in 1774 and the German teacher Peter Plett in 1791.[9] Jesty inoculated his wife and two young sons with cowpox, in a successful effort to immunize them to smallpox, an epidemic of which had arisen in their town. His patients who had contracted and recovered from the similar but milder cowpox (mainly milkmaids), seemed to be immune not only to further cases of cowpox, but also to smallpox. By scratching the fluid from cowpox lesions into the skin of healthy individuals, he was able to immunize those people against smallpox. Reportedly, farmers and people working regularly with cattle and horses were often spared during smallpox outbreaks. Investigations by the British Army in 1790 showed that horse-mounted troops were less infected by smallpox than infantry, due to probable exposure to the similar horsepox virus (Variola equina). By the early 19th century, more than 100,000 people in Great Britain had been vaccinated. The arm-to-arm method of transfer of the cowpox vaccine was also used to distribute Jenner's vaccine throughout the Spanish Empire. Spanish king Charles IV's daughter had been stricken with smallpox in 1798, and after she recovered, he arranged for the rest of his family to be vaccinated. In 1803, the king, convinced of the benefits of the vaccine, ordered his personal physician Francis Xavier de Balmis, to deliver it to the Spanish dominions in North and South America. To maintain the vaccine in an available state during the voyage, the physician recruited 22 young boys who had never had cowpox or smallpox before, aged three to nine years, from the orphanages of Spain. During the trip across the Atlantic, de Balmis vaccinated the orphans in a living chain. Two children were vaccinated immediately before departure, and when cowpox pustules had appeared on their arms, material from these lesions was used to vaccinate two more children.[10] In 1796, English medical practitioner Edward Jenner tested the theory that cowpox could protect someone from being infected by smallpox. There had long been speculation regarding the origins of Jenner's variolae vaccinae, until DNA sequencing data showed close similarities between horsepox and cowpox viruses. Jenner noted that farriers sometimes milked cows and that material from the equine disease could produce a vesicular disease in cows from which variolae vaccinae was derived. Contemporary accounts provide support for Jenner's speculation that the vaccine probably originated as an equine disease called "grease".[11] Although cowpox originates on the udder of cows, Jenner took his sample from a milkmaid, Sarah Nelmes. Jenner extracted the pus of one of the lesions formed by cowpox on Nelmes to another individual who had never had smallpox, an eight-year-old boy called James Phipps. He eventually developed a scab and fever that was manageable. Approximately six weeks later, Jenner then introduced an active sample of the smallpox virus into Phipps to test the theory. After being observed for an extended amount of time, it was recorded that Phipps did not receive a reaction from it. Although Jenner was not the first person to conceive the notion of cowpox protecting against the smallpox virus, his experiment proved the theory. It was later discovered that the cowpox vaccination only worked temporarily against the invasion of smallpox and the procedure would need to be repeated several times through one's lifetime to remain smallpox free. In later years, Jenner popularized the experiment, calling it a vaccination from the Latin for cow, vacca. The amount of vaccinations among people of that era increased drastically. It was widely considered to be a relatively safer procedure compared to the mainstream inoculation. Although Jenner was propelled into the spotlight from the vaccination popularity, he mainly focused on science behind why the cowpox allowed persons to not be infected by smallpox. The honour of the discovery of the vaccination is often attributed to Benjamin Jesty, but he was no scientist and did not repeat or publish his findings. He is considered to be the first to use cowpox as a vaccination, though the term vaccination was not invented yet. During the midst of the smallpox outbreak, Jesty transferred pieces of cow udder which he knew had been infected with cowpox into the skin of his family members in the hopes of protecting them. Jesty did not publicize his findings, and Jenner, who performed his first inoculation 22 years later and publicized his findings, assumed credit. It is said that Jenner made this discovery by himself, possibly without knowing previous accounts 20 years earlier. Although Jesty may have been the first to discover it, Jenner made vaccination widely accessible and has therefore been credited for its invention.[12] ### Opposition[edit] The majority of the population at the time accepted the up-and-coming vaccination. However, there were still opposition from individuals who were reluctant to change from the inoculations. In addition, there became a growing concern from parties who were worried about the unknown repercussions of infecting a human with an animal disease. One way individuals expressed their discontent was to draw comics that sometimes depicted small cows growing from the sites of vaccination. Others publicly advocated for the continuance of the inoculations; however, this was not because of their discontent for the vaccinations. Some of their reluctance had to do with an apprehensiveness for change. They had become so familiar with the process, outcome, positives, and negatives of inoculations that they did not want to be surprised by the outcome or effects of the vaccinations. Jenner soon eased their minds after extensive trials. However, others advocated against vaccinations for different reason. Because of the high price of inoculation, Jenner experienced very few common folk who were not willing to accept the vaccination. Due to this, Jenner found many subjects for his tests. He was able to publish his results in a pamphlet in 1798: An Inquiry into the Causes and Effects of Variolae Vaccinae, a Disease, Discovered in some of the Western Counties of England particularly Gloucestershire, and known by the Name of Cow Pox.[13] [14] ## Historical use[edit] In The Cow-Pock—or—the Wonderful Effects of the New Inoculation! (1802), James Gillray caricatured recipients of the vaccine developing cow-like appendages. After inoculation, vaccination using the cowpox virus became the primary defense against smallpox. After infection by the cowpox virus, the body (usually) gains the ability to recognize the similar smallpox virus from its antigens and is able to fight the smallpox disease much more efficiently. The cowpox virus contains 186 thousand base pairs of DNA, which contains the information for about 187 genes. This makes cowpox one of the most complicated viruses known. Some 100 of these genes give instructions for key parts of the human immune system, giving a clue as to why the closely related smallpox is so lethal.[15] The vaccinia virus now used for smallpox vaccination is sufficiently different from the cowpox virus found in the wild as to be considered a separate virus.[16] ### British Parliament[edit] While the vaccination's popularity increased exponentially, so did its monetary value. This was realized by the British Parliament, which compensated Jenner 10,000 pounds for the vaccination. In addition, they later compensated Jenner an additional 20,000 pounds. In the coming years, Jenner continued advocacy for his vaccination over the still popular inoculation. Eventually, in 1840, the inoculation became banned in England and was replaced with the cowpox vaccination as the main medical solution to combat smallpox. The cowpox vaccination saved the British Army thousands of soldiers, by making them immune to the effects of smallpox in upcoming wars. The cowpox also saved the United Kingdom thousands of pounds.[17] ### Kinepox[edit] Kinepox is an alternative term for the smallpox vaccine used in early 19th-century America. Popularized by Jenner in the late 1790s, kinepox was a far safer method for inoculating people against smallpox than the previous method, variolation, which had a 3% fatality rate. In a famous letter to Meriwether Lewis in 1803, Thomas Jefferson instructed the Lewis and Clark expedition to "carry with you some matter of the kine-pox; inform those of them with whom you may be, of its efficacy as a preservative from the smallpox; & encourage them in the use of it..."[18] Jefferson had developed an interest in protecting Native Americans from smallpox, having been aware of epidemics along the Missouri River during the previous century. A year before his special instructions to Lewis, Jefferson had persuaded a visiting delegation of North American Indian chieftains to be vaccinated with kinepox during the winter of 1801–1802. Unfortunately, Lewis never got the opportunity to use kinepox during the pair's expedition, as it had become inadvertently inactive—a common occurrence in a time before vaccines were stabilized with preservatives such as glycerol or kept at refrigeration temperatures. ## Prevention[edit] Today, the virus is found in Europe, mainly in the UK. Human cases are very rare (though in 2010 a laboratory worker contracted cowpox[19]) and most often contracted from domestic cats. Human infections usually remain localized and self-limiting, but can become fatal in immunosuppressed patients. The virus is not commonly found in cattle; the reservoir hosts for the virus are woodland rodents, particularly voles.[20] Domestic cats contract the virus from these rodents. Symptoms in cats include lesions on the face, neck, forelimbs, and paws, and, less commonly, upper respiratory tract infections. Symptoms of infection with cowpox virus in humans are localized, pustular lesions generally found on the hands and limited to the site of introduction. The incubation period is nine to ten days. The virus is most prevalent in late summer and autumn. Immunity to cowpox is gained when the smallpox vaccine is administered. Although the vaccine now uses vaccinia virus, the poxviruses are similar enough that the body becomes immune to both cow- and smallpox. ## Citations[edit] 1. ^ Pelkonen PM, Tarvainen K, Hynninen A, Kallio ER, Henttonen K, Palva A, Vaheri A, Vapalahti O (November 2003). "Cowpox with severe generalized eruption, Finland". Emerging Infectious Diseases. 9 (11): 1458–61. doi:10.3201/eid0911.020814. PMC 3035531. PMID 14718092. 2. ^ a b Vanessa Ngan, "Viral and Skin Infections", 2009 3. ^ "What's The Real Story About The Milkmaid And The Smallpox Vaccine?". NPR.org. Retrieved 2018-02-02. 4. ^ a b Thomas Cooper Library, University of South Carolina: "Edward Jenner and the Discovery of Vaccination", exhibition, 1996 5. ^ a b Abbas K (2003). Cellular and Molecular Immunology (Fifth ed.). Philadelphia: Saunders. ISBN 978-0-7216-0008-6. 6. ^ Willrich M (2011). Pox. New York: Penguin Books. 7. ^ Chomel BB (July 2014). "Emerging and Re-Emerging Zoonoses of Dogs and Cats". Animals. 4 (3): 434–45. doi:10.3390/ani4030434. PMC 4494318. PMID 26480316. 8. ^ Mansell JK, Rees CA (2005). "Cutaneous manifestations of viral disease". In August, John R. (ed.). Consultations in Feline Internal Medicine Vol. 5. Elsevier Saunders. ISBN 978-0-7216-0423-7. 9. ^ Plett PC (2006). "[Peter Plett and other discoverers of cowpox vaccination before Edward Jenner]". Sudhoffs Archiv (in German). 90 (2): 219–32. PMID 17338405. 10. ^ Tucker JB (2001). Scourge: The Once and Future Threat of Smallpox. New York: Atlantic Monthly Press. p. 31. ISBN 978-0-87113-830-9. 11. ^ Noyce RS, Lederman S, Evans DH (2018-01-19). Thiel V (ed.). "Construction of an infectious horsepox virus vaccine from chemically synthesized DNA fragments". PLOS ONE. 13 (1): e0188453. Bibcode:2018PLoSO..1388453N. doi:10.1371/journal.pone.0188453. PMC 5774680. PMID 29351298. 12. ^ Science and the practice of medicine in the nineteenth century. Cambridge. 13. ^ Lindemann M. Medicine and Society in Early Modern Europe. 14. ^ Jenner, Edward. An inquiry into the causes and effects of the variolae vaccinae: a disease discovered in some of the western counties of England, particularly Gloucestershire, and known by the name of the cow pox. 15. ^ Moore P (2001). Killer Germs: Rogue Diseases of the Twenty-First Century. London: Carlton. ISBN 978-1-84222-150-1. 16. ^ Yuan, Jenifer The Small Pox Story 17. ^ Riedel S (January 2005). "Edward Jenner and the history of smallpox and vaccination". Proceedings. 18 (1): 21–25. doi:10.1080/08998280.2005.11928028. PMC 1200696. PMID 16200144. 18. ^ "Jefferson's Instructions to Lewis and Clark (1803)". Archived from the original on 2007-08-07. Retrieved 2007-08-10. 19. ^ "Cowpox infection in US lab worker called a first". 20. ^ Kurth A, Wibbelt G, Gerber HP, Petschaelis A, Pauli G, Nitsche A (April 2008). "Rat-to-elephant-to-human transmission of cowpox virus". Emerging Infectious Diseases. 14 (4): 670–71. doi:10.3201/eid1404.070817. PMC 2570944. PMID 18394293. ## General sources[edit] * Peck, David R. (2002). Or Perish in the Attempt: Wilderness Medicine in the Lewis & Clark Expedition. Farcountry Press. ISBN 978-1-56037-226-4. Classification D * ICD-10: B08.0 * ICD-10-CM: B08.010 * ICD-9-CM: 051.01 * MeSH: D015605 * SNOMED CT: 70090004 * v * t * e Skin infections, symptoms and signs related to viruses DNA virus Herpesviridae Alpha HSV * Herpes simplex * Herpetic whitlow * Herpes gladiatorum * Herpes simplex keratitis * Herpetic sycosis * Neonatal herpes simplex * Herpes genitalis * Herpes labialis * Eczema herpeticum * Herpetiform esophagitis Herpes B virus * B virus infection VZV * Chickenpox * Herpes zoster * Herpes zoster oticus * Ophthalmic zoster * Disseminated herpes zoster * Zoster-associated pain * Modified varicella-like syndrome Beta * Human herpesvirus 6/Roseolovirus * Exanthema subitum * Roseola vaccinia * Cytomegalic inclusion disease Gamma * KSHV * Kaposi's sarcoma Poxviridae Ortho * Variola * Smallpox * Alastrim * MoxV * Monkeypox * CPXV * Cowpox * VV * Vaccinia * Generalized vaccinia * Eczema vaccinatum * Progressive vaccinia * Buffalopox Para * Farmyard pox: Milker's nodule * Bovine papular stomatitis * Pseudocowpox * Orf * Sealpox Other * Yatapoxvirus: Tanapox * Yaba monkey tumor virus * MCV * Molluscum contagiosum Papillomaviridae HPV * Wart/plantar wart * Heck's disease * Genital wart * giant * Laryngeal papillomatosis * Butcher's wart * Bowenoid papulosis * Epidermodysplasia verruciformis * Verruca plana * Pigmented wart * Verrucae palmares et plantares * BPV * Equine sarcoid Parvoviridae * Parvovirus B19 * Erythema infectiosum * Reticulocytopenia * Papular purpuric gloves and socks syndrome Polyomaviridae * Merkel cell polyomavirus * Merkel cell carcinoma RNA virus Paramyxoviridae * MeV * Measles Togaviridae * Rubella virus * Rubella * Congenital rubella syndrome ("German measles" ) * Alphavirus infection * Chikungunya fever Picornaviridae * CAV * Hand, foot, and mouth disease * Herpangina * FMDV * Foot-and-mouth disease * Boston exanthem disease Ungrouped * Asymmetric periflexural exanthem of childhood * Post-vaccination follicular eruption * Lipschütz ulcer * Eruptive pseudoangiomatosis * Viral-associated trichodysplasia * Gianotti–Crosti syndrome Taxon identifiers * Wikidata: Q12418974 * Wikispecies: Cowpox virus * EoL: 540225 * IRMNG: 11459545 * NCBI: 10243 [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Cowpox	c0010232	30,466	wikipedia	https://en.wikipedia.org/wiki/Cowpox	2021-01-18T18:46:28	{"mesh": ["D015605"], "umls": ["C0010232"], "wikidata": ["Q1066011"]}
A number sign (#) is used with this entry because of evidence that autosomal recessive nonsyndromic deafness-2 (DFNB2) is caused by homozygous or compound heterozygous mutation in the myosin VIIA gene (MYO7A; 276903) on chromosome 11q13. Allelic disorders include autosomal dominant deafness-11 (DFNA11; 601317) and Usher syndrome type IB (USH1B; see 276900). Clinical Features Guilford et al. (1994) reported a consanguineous family from southern Tunisia in which 22 individuals had autosomal recessive nonsyndromic sensorineural deafness. All had profound deafness, and 4 also had vertigo. The age of onset of deafness was variable and reported to range from birth to age 16 years. Riazuddin et al. (2008) reported a consanguineous Pakistani family in which several members had nonsyndromic sensorineural deafness. None had vestibular or retinal abnormalities. Hildebrand et al. (2010) reported 3 sibs, born of consanguineous Iranian parents, with autosomal recessive nonsyndromic deafness-2. Onset of hearing loss occurred between ages 7 months and 7 years. Audiologic testing revealed hearing loss at all frequencies, although low frequency hearing was less impaired. All had normal vestibular function, and funduscopic examination and visual acuity tests excluded retinitis pigmentosa in all patients at ages 39, 31, and 42 years, respectively. One patient had a milder phenotype, with later onset and less severe impairment, suggesting the presence of a genetic modifier. The findings confirmed that nonsyndromic hearing loss can be caused by mutation in the MYO7A gene. ### Clinical Variability Zina et al. (2001) reevaluated the family reported by Guilford et al. (1994) and Weil et al. (1997). Since the original reports, 5 patients had developed mild retinal degeneration in addition to the progressive deafness. Fundus examination of 1 patient showed spicule pigmentary changes consistent with retinal dystrophy. Another previously unaffected family member, homozygous for the mutation, had retinitis pigmentosa. Seven patients had abnormal vestibular function as assessed by caloric tests. Zina et al. (2001) concluded that some patients in this Tunisian family had features consistent with Usher syndrome type IB. The findings suggested that other factors must modulate the expression of the phenotype. Mapping By linkage analysis of a consanguineous Tunisian family with autosomal recessive neurosensory deafness, Guilford et al. (1994) found linkage to chromosome 11q13 (maximum lod score of 10.63 at marker D11S527). Homozygosity mapping refined the location of the locus to a 6-cM interval that also contained the olfactory marker protein gene (OMP; 164340). The murine homolog of OMP is tightly linked to the autosomal recessive deafness shaker-1 gene in mice, suggesting that the deafness in this Tunisian family is the human homolog of the mouse shaker-1 mutation. Molecular Genetics In affected members of the Tunisian family reported by Guilford et al. (1994), Weil et al. (1997) identified a homozygous mutation in the MYO7A gene (276903.0010). In affected members of 2 Chinese families with DFNB2, Liu et al. (1997) identified homozygous or compound heterozygous mutations in the MYO7A gene (276903.0007-276903.0009). In affected members of a consanguineous Pakistani family with DFNB2, Riazuddin et al. (2008) identified a homozygous mutation in the MYO7A gene (276903.0018). In 3 sibs, born of consanguineous Iranian parents, with DFNB2, Hildebrand et al. (2010) identified a homozygous mutation in the MYO7A gene (R395H; 276903.0021). Animal Model Shaker-1 (sh1) homozygous mice show hyperactivity, head-tossing, and circling due to vestibular dysfunction, as well as neuroepithelial-type cochlear defects involving dysfunction and progressive degeneration of the organ of Corti. Gibson et al. (1995) described 3 different mutations in the Myo7a gene that segregated with the disorder in mice. All the mutations were located in the region encoding the myosin head. The sh1 phenotype differs from that of Usher syndrome in humans by the absence of retinal degeneration. Weil et al. (1995) noted that one form of human neurosensory recessive deafness without retinal dystrophy, DFNB2, maps to 11q in the same general region as USH1B and may represent the human equivalent of sh1. INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing loss, sensorineural, prelingual \- Hearing loss affects all frequencies NEUROLOGIC Central Nervous System \- Vestibular dysfunction \- Vertigo MISCELLANEOUS \- Onset usually at birth, but may occur later \- Allelic disorder to autosomal dominant nonsyndromic sensorineural deafness (DFNA11, 601317 ) and Usher syndrome type IB ( 276900 ) MOLECULAR BASIS \- Caused by mutation in the myosin VIIA gene (MYO7A, 276903.0007 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	DEAFNESS, AUTOSOMAL RECESSIVE 2	c1838701	30,467	omim	https://www.omim.org/entry/600060	2019-09-22T16:16:43	{"doid": ["0110477"], "mesh": ["C564007"], "omim": ["600060"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive non-syndromic neurosensory deafness type DFNB", "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2", "Alternative titles", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive isolated neurosensory deafness type DFNB"]}
A rare genetic neurodegenerative disease characterized by early-onset diffuse brain atrophy, growth failure with postnatal microcephaly, developmental delay, regression, profound intellectual disability, hypotonia, muscle weakness and atrophy, intractable seizures, spasticity, and optic atrophy. Patients are usually immobile and often require mechanical ventilation. Brain imaging shows cerebral and cerebellar atrophy, hypomyelination, and thin corpus callosum. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	c4310671	30,468	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=496641	2021-01-23T19:05:50	{"omim": ["617193"]}
Dyschromia SpecialtyDermatology Dyschromia refers to an alteration of the color of the skin or nails.[1] "Hyperchromia" can refer to hyperpigmentation,[2] and "hypochromia" can refer to hypopigmentation.[3] "Dyschromatoses" involve both hyperpigmented and hypopigmented macules.[4] ## See also[edit] * Albinism * Albino and white squirrels * Amelanism * Chimera (genetics) * Coloboma * Erythrism * Heterochromia iridum * Leucism * Melanism * Piebaldism * Vitiligo * Xanthochromism ## References[edit] 1. ^ "dyschromia - definition of dyschromia in the Medical dictionary - by the Free Online Medical Dictionary, Thesaurus and Encyclopedia". 2. ^ "hyperchromia - Definition from Merriam-Webster's Medical Dictionary". 3. ^ "hypochromia - Definition from Merriam-Webster's Medical Dictionary". 4. ^ Urabe K, Hori Y (March 1997). "Dyschromatosis". Semin Cutan Med Surg. 16 (1): 81–5. doi:10.1016/S1085-5629(97)80039-9. PMID 9125769. ## External links[edit] Classification D * ICD-10: L81.9 * ICD-9-CM: 709.0 * DiseasesDB: 29542 * SNOMED CT: 201273003 * v * t * e Pigmentation disorders/Dyschromia Hypo-/ leucism Loss of melanocytes Vitiligo * Quadrichrome vitiligo * Vitiligo ponctué Syndromic * Alezzandrini syndrome * Vogt–Koyanagi–Harada syndrome Melanocyte development * Piebaldism * Waardenburg syndrome * Tietz syndrome Loss of melanin/ amelanism Albinism * Oculocutaneous albinism * Ocular albinism Melanosome transfer * Hermansky–Pudlak syndrome * Chédiak–Higashi syndrome * Griscelli syndrome * Elejalde syndrome * Griscelli syndrome type 2 * Griscelli syndrome type 3 Other * Cross syndrome * ABCD syndrome * Albinism–deafness syndrome * Idiopathic guttate hypomelanosis * Phylloid hypomelanosis * Progressive macular hypomelanosis Leukoderma w/o hypomelanosis * Vasospastic macule * Woronoff's ring * Nevus anemicus Ungrouped * Nevus depigmentosus * Postinflammatory hypopigmentation * Pityriasis alba * Vagabond's leukomelanoderma * Yemenite deaf-blind hypopigmentation syndrome * Wende–Bauckus syndrome Hyper- Melanin/ Melanosis/ Melanism Reticulated * Dermatopathia pigmentosa reticularis * Pigmentatio reticularis faciei et colli * Reticulate acropigmentation of Kitamura * Reticular pigmented anomaly of the flexures * Naegeli–Franceschetti–Jadassohn syndrome * Dyskeratosis congenita * X-linked reticulate pigmentary disorder * Galli–Galli disease * Revesz syndrome Diffuse/ circumscribed * Lentigo/Lentiginosis: Lentigo simplex * Liver spot * Centrofacial lentiginosis * Generalized lentiginosis * Inherited patterned lentiginosis in black persons * Ink spot lentigo * Lentigo maligna * Mucosal lentigines * Partial unilateral lentiginosis * PUVA lentigines * Melasma * Erythema dyschromicum perstans * Lichen planus pigmentosus * Café au lait spot * Poikiloderma (Poikiloderma of Civatte * Poikiloderma vasculare atrophicans) * Riehl melanosis Linear * Incontinentia pigmenti * Scratch dermatitis * Shiitake mushroom dermatitis Other/ ungrouped * Acanthosis nigricans * Freckle * Familial progressive hyperpigmentation * Pallister–Killian syndrome * Periorbital hyperpigmentation * Photoleukomelanodermatitis of Kobori * Postinflammatory hyperpigmentation * Transient neonatal pustular melanosis Other pigments Iron * Hemochromatosis * Iron metallic discoloration * Pigmented purpuric dermatosis * Schamberg disease * Majocchi's disease * Gougerot–Blum syndrome * Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis * Lichen aureus * Angioma serpiginosum * Hemosiderin hyperpigmentation Other metals * Argyria * Chrysiasis * Arsenic poisoning * Lead poisoning * Titanium metallic discoloration Other * Carotenosis * Tar melanosis Dyschromia * Dyschromatosis symmetrica hereditaria * Dyschromatosis universalis hereditaria See also * Skin color * Skin whitening * Tanning * Sunless * Tattoo * removal * Depigmentation This cutaneous condition article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Dyschromia	c0151907	30,469	wikipedia	https://en.wikipedia.org/wiki/Dyschromia	2021-01-18T18:45:43	{"icd-9": ["709.0"], "icd-10": ["L81.9"], "wikidata": ["Q1269236"]}
## Clinical Features Stevanin et al. (2007) reported a consanguineous Portuguese family in which 3 sibs had slowly progressive complicated spastic paraplegia. The patients were first examined at ages 20 to 24 years but reported onset of difficulty walking at 6 to 7 years of age. Physical examination showed lower limb hyperreflexia, weakness, and spasticity at rest and while walking (with a stick), as well as extensor plantar responses and pes cavus. All had mild mental retardation and learning problems but were able to help their parents on the farm. Brain MRI of 2 patients showed thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. One patient with a history of alcohol abuse had peripheral neuropathy. Mapping By genomewide linkage analysis of a consanguineous Portuguese family with spastic paraplegia, Stevanin et al. (2007) identified a candidate locus, termed SPG32, on chromosome 14q12-q21 (maximum multipoint lod score of 3.74). Haplotype analysis delineated a 30-cM interval between D14S264 and D14S978. The region partially overlapped the initial locus for SPG3A (182600), but genetic analysis did not identify mutations in the atlastin gene (606439). Stevanin et al. (2007) noted that other SPG loci map to the same chromosome in the following order: 14qcen--SPG32--SPG3A--SPG28 (609340)--SPG15 (270700)--14qtel. INHERITANCE \- Autosomal recessive SKELETAL Feet \- Pes cavus NEUROLOGIC Central Nervous System \- Spastic gait \- Difficulty walking \- Lower limb weakness \- Lower limb spasticity \- Hyperreflexia \- Ankle clonus \- Extensor plantar responses \- Mild mental retardation \- Thin corpus callosum \- Cerebellar atrophy \- Cerebral atrophy \- Pontine dysraphia MISCELLANEOUS \- Onset in childhood \- Slow progression ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE	c1970009	30,470	omim	https://www.omim.org/entry/611252	2019-09-22T16:03:36	{"doid": ["0110783"], "mesh": ["C566983"], "omim": ["611252"], "orphanet": ["171622"]}
MYD88 deficiency is a rare primary immunodeficiency characterized by an increased susceptibility to certain types of bacterial infections. People affected by this condition generally have abnormally frequent and life-threatening infections caused by pyogenic bacteria (such as Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa). However, their immune response to other common bacteria, viruses, fungi, and parasites is normal. MYD88 deficiency is caused by changes (mutations) in the MYD88 gene and is inherited in an autosomal recessive manner. Management is focused on the prevention and early treatment of infections with appropriate antibiotics. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	MYD88 deficiency	c2677092	30,471	gard	https://rarediseases.info.nih.gov/diseases/12638/myd88-deficiency	2021-01-18T17:58:51	{"mesh": ["C567379"], "omim": ["612260"], "orphanet": ["183713"], "synonyms": ["Pyogenic bacterial infections due to MyD88 deficiency", "Bacterial susceptibility due to TLR signaling pathway deficiency"]}
Parathyroid cancer is a rare cancer that usually affects people in their forties or fifties and occurs in one of the four parathyroid glands. The parathyroid glands are located in the neck and secrete parathyroid hormone, which enhances the release of calcium into the blood. In about 90 percent of cases, the early signs of parathyroid cancer are high levels of parathyroid hormone (hyperparathyroidism) and calcium (hypercalcemia) in the blood. In these cases, the cancer is described as hormonally functional because the parathyroid glands are producing excess hormone. Many individuals with hormonally functional parathyroid cancer develop hypercalcemic crisis, in which calcium levels in the blood are very high. Neurological problems can develop, including changes in mood and depression. About 30 percent of individuals with hypercalcemia due to parathyroid cancer develop kidney and skeletal problems. These problems include increased urine production (polyuria), deposits of calcium in the kidneys (nephrocalcinosis) leading to the formation of kidney stones (nephrolithiasis), bone pain, bone loss, and increased bone fractures. Abdominal pain, inflammation of the pancreas (pancreatitis), sores (ulcers) in the lining of the digestive tract, nausea, vomiting, weight loss, and fatigue are also common. About 10 percent of cases of parathyroid cancer are described as hormonally nonfunctional. In these cases, levels of parathyroid hormone and calcium are normal. The signs and symptoms of hormonally nonfunctional parathyroid cancer are related to the tumor obstructing nearby structures in the neck. These problems include difficulty swallowing (dysphagia) and speaking (dysarthria), a hoarse voice, shortness of breath (dyspnea), or vocal cord paralysis. Up to 85 percent of individuals with parathyroid survive at least 5 years after they are diagnosed. The disease recurs in approximately half of individuals. If cancer does recur, it will commonly be within 3 years of the original diagnosis and up to 78 percent of people with recurrent cancer survive at least 5 years. Hormonally nonfunctional parathyroid cancer has a lower survival rate because it is often found at a later stage, as it does not have early signs such as increased calcium and parathyroid hormone levels. In hormonally functional parathyroid cancer, death is usually caused by organ failure (usually kidney failure) due to prolonged hypercalcemia and not directly due to the tumor. In hormonally nonfunctional parathyroid cancer, the cause of death is typically related to the tumor itself, such as its impact on the function of nearby structures or its spread to other tissues (metastasis). ## Frequency Parathyroid cancer is one of the rarest types of cancer. It accounts for 0.005 percent of all cancers, with about 1,000 cases reported in the medical literature. ## Causes Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division (proliferation) or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In most cases of parathyroid cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in the parathyroid glands. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in parathyroid cancer cells. Less commonly, genetic changes present in all of the body's cells increase the risk of developing parathyroid cancer. These genetic changes, which are classified as germline mutations, are usually inherited from a parent. In people with germline mutations, changes in other genes, together with non-genetic factors, also influence whether a person will develop parathyroid cancer. Mutations in the CDC73 gene are found in up to 70 percent of cases of parathyroid cancer. In approximately one-third of affected individuals with changes in this gene, the mutation is inherited from a parent and is present in all of the body's cells. In people who have parathyroid cancer with CDC73 gene mutations, the cancer is seven times more likely to metastasize than is parathyroid cancer in affected individuals without CDC73 gene mutations. Individuals with CDC73 gene mutations are also at a higher risk of recurrence of the cancer and have a decreased survival rate compared to those without CDC73 gene mutations. Mutations in other genes have also been found in parathyroid cancer, but each of these mutations has been reported in only a small number of individuals. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found within the nucleus of cells throughout the body and is likely involved in gene transcription, which is the first step in protein production. Parafibromin functions as a tumor suppressor, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. In individuals with a CDC73 gene mutation, either inherited from a parent or acquired during their lifetime, a second mutation in the other copy of the CDC73 gene must occur in parathyroid cells for cancer to develop. Parathyroid cells with two altered copies of the CDC73 gene produce no functional parafibromin. As a result, cells grow and divide unchecked, which can lead to parathyroid cancer. A significantly increased risk of parathyroid cancer is also a feature of certain rare genetic syndromes. Parathyroid cancer occurs in 15 percent of individuals with hyperparathyroidism-jaw tumor syndrome and in 1 percent of individuals with familial isolated hyperparathyroidism. These conditions are both caused by mutations in the CDC73 gene. In rare cases, parathyroid cancer has also been found in people who have a tumor disorder called multiple endocrine neoplasia, which is caused by mutations in other genes. Non-genetic factors have also been found to contribute to a person's risk of developing parathyroid cancer, including a history of hyperparathyroidism with chronic kidney failure, thyroid cancer, and previous radiation therapy on the neck. ### Learn more about the gene associated with Parathyroid cancer * CDC73 ## Inheritance Pattern Most cases of parathyroid cancer are not caused by inherited genetic factors. These cancers are associated with somatic mutations that are acquired during a person's lifetime, and they do not cluster in families. A predisposition to parathyroid cancer caused by a germline mutation is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing a tumor. It is important to note that people inherit an increased likelihood of developing cancer, not the disease itself. Not all people who inherit a cancer-predisposing gene mutation will ultimately develop cancer. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Parathyroid cancer	c0687150	30,472	medlineplus	https://medlineplus.gov/genetics/condition/parathyroid-cancer/	2021-01-27T08:25:23	{"gard": ["7329"], "mesh": ["D010282"], "omim": ["608266"], "synonyms": []}
A rare, acquired, typically benign, bacterial infectious disease caused by Staphylococcus aureus characterized by large, fragile vesicles and flaccid bullae on an erythematous base, which evolve into moistened erosions with a thin, varnish-like crust, usually localized in intertriginous areas of the trunk and extremities (armpits, groins, between the fingers or toes, beneath the breasts). Although uncommon, systemic symptoms, such as fever, diarrhea, and weakness, may be associated. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Bullous impetigo	c0021100	30,473	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=36237	2021-01-23T18:27:41	{"umls": ["C0021100"], "icd-10": ["L01.0"]}
A rare, genetic congenital malformation syndrome characterized by microcephaly, short stature, digital anomalies (brachymesophalangy, fifth finger clinodactyly, syndactyly of toes and hypoplastic thumbs) and mild intellectual disabilities but that lacks the manifestations of gastrointestinal atresia. ## Epidemiology Feingold syndrome type 2 (FS2) is extremely rare with less than 20 patients described in the literature to date. ## Clinical description FS2 patients present with microcephaly, brachydactyly, brachymesophalangy of the second and fifth fingers, hypoplastic thumbs and toe syndactyly as seen in FS1. Mild intellectual disability is also noted. Unlike FS1, patients with FS2 lack any form of gastrointestinal atresia and they do not display short palpebral fissures. ## Etiology FS2 is thought to be caused by a hemizygous deletion in the MIR17HG gene on chromosome 13q31.3. This is the first example of a syndromic development deficit in humans that is caused by a miRNA gene. ## Diagnostic methods Diagnosis is suspected on clinical presentation and can be confirmed by high-resolution CGH (comparative genomic hybridization) arrays. ## Differential diagnosis Differential diagnosis of FS2 includes FS type 1 (FS1), VACTERL association, CHARGE syndrome, brachydactyly type A4 and Fanconi anemia. ## Antenatal diagnosis Prenatal testing is possible in FS2 families with a known MIR17HG mutation or deletion. ## Genetic counseling FS2 is inherited in an autosomal dominant manner; however, most cases arise de novo. Genetic counseling is possible. ## Management and treatment Extensive medical examinations are needed to identify possible anomalies of the heart or kidneys. Management of FS2 typically centers for long-term medical sequelae. Occupational therapy / surgical intervention for finger/toe anomalies may be required. Renal and cardiac anomalies should receive the standard treatments and prophylactic antibiotics may be beneficial. Special education is recommended for children and adults with learning deficits. Hearing loss should equally be monitored by an audiologist. Cochlear implants are possible in certain cases. ## Prognosis Prognosis depends on congenital malformations (especially cardiac and renal anomalies) present. If optimal surgical correction is achievable, the prognosis can be relatively positive, though some patients will continue to be affected by their congenital malformations throughout life. * European Reference Network [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Feingold syndrome type 2	c3280489	30,474	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391646	2021-01-23T18:40:17	{"omim": ["614326"], "icd-10": ["Q87.8"], "synonyms": ["Brachydactyly-short stature-microcephaly syndrome", "Brunner-Winter syndrome type 2", "FGLDS2", "FS2", "MMT type 2", "Microcephaly-digital anomalies-normal intelligence syndrome type 2", "Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2"]}
Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth. ## Epidemiology Prevalence of DD-I is reported to be 1/100,000. ## Clinical description The condition affects both primary and permanent dentition. Signs of the condition are variable. In patients with DD-I, the teeth are generally unremarkable clinically with a normal shape and color. However, the roots appear sharp with conical, apical constrictions on radiography. The teeth are generally mobile, with frequent abscess formation and can be lost prematurely. Aberrant dentin formation can lead to partial or total pulp obliteration. ## Etiology DD-I is caused by mutations in the DSPP gene (4q21.3) coding for dentin sialophosphoprotein, a precursor for dentin sialoprotein and dentin phosphoprotein which are involved in dentinogenesis. ## Diagnostic methods Since teeth in DD-I appear clinically normal, diagnosis is based on radiographic features (abnormal roots, pulp obliteration, partially obliterated crescent shaped pulp chamber and occasionally pulp stones). Molecular genetic testing can be used to confirm the diagnosis. ## Differential diagnosis Differential diagnoses include conditions that have overlapping clinical or radiographic features with DD such as those leading to early tooth loss: Kostmann syndrome, cyclic neutropenia, Chediak-Hegashi syndrome, Langerhans cell histiocytosis, Papillon-Lefèvre syndrome, hypophosphatasia, and vitamin D-resistant rickets (see these terms). ## Genetic counseling DD-I follows an autosomal dominant pattern of inheritance. There is therefore a 50% risk that a child born to an affected parent will have the condition. ## Management and treatment Appropriate care makes it possible to achieve good esthetic appearance and functional performance. ## Prognosis Prognosis depends primarily on the age of diagnosis and the quality of management. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Dentin dysplasia type I	c0399379	30,475	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99789	2021-01-23T19:03:18	{"gard": ["1807"], "mesh": ["C538215"], "umls": ["C0399379"], "icd-10": ["K00.5"], "synonyms": ["DD-I", "DTDP1", "Radicular dentin dysplasia"]}
A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end. Patients typically present primary amenorrhea, cyclical abdominal or pelvic pain, dyspareunia and/or reproductive problems. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Uterine cervical aplasia and agenesis	None	30,476	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=180145	2021-01-23T17:34:08	{"icd-10": ["Q51.5"]}
Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Deafness-oligodontia syndrome	c1857333	30,477	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3230	2021-01-23T18:58:12	{"gard": ["1698"], "mesh": ["C538049"], "omim": ["221740"], "umls": ["C1857333"], "synonyms": ["Hearing loss-oligodontia syndrome"]}
A number sign (#) is used with this entry because of evidence that congenital anomalies of the kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED) is caused by heterozygous mutation in or deletion of the PBX1 gene (176310) on chromosome 1q23. Some individuals with the CAKUTHED phenotype have deletion of several genes in this region, consistent with a contiguous gene deletion syndrome. Description CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017). Clinical Features Le Tanno et al. (2017) reported 8 unrelated patients with a syndromic form of CAKUT associated with variable deletions of chromosome 1q23.3-q24.1; the patients were collected through several microarray databases with a focus on CAKUT. One of the patients (PT3) had previously been reported by Mackenroth et al. (2016). Seven of the patients described by Le Tanno et al. (2017) presented either at birth or in infancy with kidney defects, including renal hypoplasia (6), renal dysplasia (3), renal ectopia (2), and/or horseshoe kidney (1); the eighth patient presented at 18 months with normal kidney morphology, but other urinary tract abnormalities, including bifid ureter, small urethral valve, renal pelvis dilatation, and vesicoureteral reflux. Three patients had chronic kidney disease during childhood. One 42-year-old patient (PT6) with the longest follow-up had end-stage renal disease requiring dialysis at age 16 and subsequently had 2 kidney transplants. Three of 4 males had cryptorchidism. Although the patients were ascertained for their renal phenotype, all had significant additional abnormal features. Seven had global developmental delay, often with speech delay; 1 (PT4) had only motor delay with normal speech. Five had hearing impairment, 3 had hypotonia, and 2 had autism spectrum disorder. Seven patients had highly variable dysmorphic facial features, such as broad nasal bridge, anteverted nares, hypertelorism, strabismus, prominent philtrum, or thin upper lip. A common abnormality found in almost all patients was abnormal outer ears that were low-set, hypoplastic, abnormally hemmed, and anteverted or crumpled; the helices were thickened or hypoplastic. Other organ malformations were rarely reported: 4 patients had heart malformations, mainly septal defects; 4 had neurologic abnormalities, including sacral pit (3), spina bifida occulta (1), and corpus callosum hypoplasia (1); and 2 had anal malposition. Le Tanno et al. (2017) noted that 6 of the 8 patients had deletions of several contiguous genes, which may also have contributed to the extrarenal symptoms. However, the 2 patients with isolated deletion of PBX1 had similar extrarenal manifestations. Heidet et al. (2017) reported 3 unrelated patients with truncating point mutations in the PBX1 gene. One patient (K175) was a 21-year-old woman with renal hypoplasia resulting in renal insufficiency, deafness, and scoliosis. The second patient (K179) was an 11-year-old girl presenting with small hyperechogenic kidneys with cystic dysplasia resulting in renal insufficiency; she also had developmental delay, growth retardation, and long and narrow face. The third patient (K186) was a fetus with renal hypoplasia, oligonephronia, and oligohydramnios. Three additional patients with larger deletions involving several genes were also reported. One of these patients (K181) was a 39-year-old woman with a small dysplastic horseshoe kidney and absence of corticomedullary differentiation resulting in renal failure, and profound deafness. The second was an infant (K136) with a single small hyperechogenic kidney, but normal renal function at age 18 months. This child also had developmental delay, microcephaly, and dysmorphic facial features, including long, narrow face and abnormal ear lobes. The third patient was a 10-year-old boy with small hyperechogenic kidneys, rapidly progressive renal failure, developmental delay, and dysmorphic facial features. Slavotinek et al. (2017) reported 8 unrelated patients with a pleiotropic developmental disorder associated with de novo heterozygous point mutations in the PBX1 gene. Seven of the patients were under the age of 3 years, whereas the remaining patient was 27 years old. Some of the pregnancies were complicated by oligohydramnios or variable abnormal findings on ultrasound. Most of the patients had delayed development with delayed walking and poor speech. The 27-year-old patient had severe intellectual disability, behavioral abnormalities, and poor eye contact. Among the patients, features included poor growth, short stature, hypotonia, poor feeding necessitating tube placement, and respiratory insufficiency sometimes requiring ventilation. Each had variable abnormalities including craniofacial, ear, branchial arch, cardiac, pulmonary, diaphragmatic, renal, and/or genital systems. Craniofacial anomalies present in some patients did not delineate a recognizable phenotype. Renal anomalies comprised renal hypoplasia, pyelocaliectasis, dilated fetal ureters, and increased echogenicity, as well as recurrent urinary tract infections. Four males with karyotype 46,XY had cryptorchidism and 2 males had atypical sexual development: 1 with intraabdominal testes and retained Mullerian structures, and the other with micropenis and undervirilized male external genitalia, a vaginal introitus, and uterus didelphys. Cytogenetics In 8 unrelated patients with CAKUTHED, Le Tanno et al. (2017) identified 8 different heterozygous deletions of chromosome 1q23.3-q24.1. The deletions ranged from 276 kb to 9.21 Mb, and the minimum region of overlap included only the PBX1 gene. The deletions in 2 patients (PT4 and PT8) only affected the PBX1 gene. The deletions were confirmed to occur de novo in 6 patients; the inheritance status of the remaining 2 patients could not be determined. In 2 of 204 unrelated patients with CAKUT who underwent next generation sequencing of candidate genes, Heidet et al. (2017) identified 2 patients with de novo heterozygous deletions of 1q23 including the entire PBX1 gene. The deletions were 2.46 Mb, including 7 additional genes, and 9.1 Mb, including 130 other genes. A third patient with a de novo 6.2-Mb deletion including PBX1 who had similar features was subsequently identified. Molecular Genetics In 3 of 204 unrelated patients with CAKUT who underwent next generation sequencing of candidate genes, Heidet et al. (2017) identified 3 different de novo heterozygous point mutations in the PBX1 gene, all of which resulted in a truncated protein (176310.0001-176310.0003). The mutations were confirmed by Sanger sequencing. Functional studies of the variants and studies of patient cells were not performed, but the mutations were predicted to result in a loss of function and haploinsufficiency. In 8 unrelated patients with CAKUTEHD, Slavotinek et al. (2017) identified 7 different de novo heterozygous mutations in the PBX1 gene (see, e.g., 176310.0004-176310.0007). There were 5 missense mutations, 1 frameshift mutation, and 1 nonsense mutation. In vitro functional expression studies of 5 of the mutations showed variable disturbances in protein function. In the presence of endogenous wildtype PBX1, all 5 mutant proteins exhibited a significant decrease in transactivation capability, despite different locations of the mutations within the protein domains. These results suggested that the mutant proteins might either be directly responsible for the decrease of transactivation activity observed or might affect the capability of the endogenous protein to transactivate target genes, resembling PBX1 haploinsufficiency. Similar studies of the mutant proteins in cells with marked reduction of wildtype PBX1 showed that only 2 of the variants exhibited significantly diminished transactivation activity, suggesting that these mutations directly affect the intrinsic capability of PBX1 to transactivate downstream transcriptional targets. In addition, 2 of the variants showed decreased nuclear localization. Overall, the findings indicated that disruption of PBX1 target genes can cause variable aberrations in normal embryonic development. Slavotinek et al. (2017) noted that the pleiotropic defects observed in patients reflect the broad expression of Pbx1 during murine embryogenesis and are consistent with the multiple organ systems affected in Pbx1-knockout mice. Animal Model Schnabel et al. (2003) found that Pbx1-null mouse embryos died at about E15.5. The kidneys were reduced in size and axially mispositioned, had fewer nephrons than controls, and sometimes showed unilateral agenesis. The mutant kidneys had expanded regions of mesenchymal condensates in the nephrogenic zone. Decreased branching and elongation of the ureter were also observed. These findings established a role for Pbx1 in mesenchymal-epithelial signaling, and indicated that Pbx1 is an essential regulator of mesenchymal function during renal morphogenesis. INHERITANCE \- Autosomal dominant GROWTH Other \- Growth retardation HEAD & NECK Face \- Dysmorphic facial features, variable \- Long face \- Narrow face \- Prominent philtrum Ears \- Low-set ears \- Abnormally shaped ears \- Hypoplastic ears \- Anteverted ears \- Crumpled ears \- Abnormal ear lobes \- Thickened helices \- Hypoplastic helices \- Hearing loss (in some patients) Eyes \- Epicanthal folds \- Strabismus Nose \- Broad nasal bridge \- Anteverted nares Mouth \- Thin upper lip CARDIOVASCULAR Heart \- Congenital heart defects (in some patients) RESPIRATORY \- Respiratory insufficiency (in some patients) CHEST Diaphragm \- Diaphragmatic hernia ABDOMEN Gastrointestinal \- Poor feeding GENITOURINARY \- Ambiguous genitalia \- Abnormal sexual development External Genitalia (Male) \- Cryptorchidism \- Micropenis Kidneys \- Renal hypoplasia \- Renal dysplasia \- Renal ectopia \- Horseshoe kidney \- Renal agenesis \- Renal insufficiency \- Renal pelvis dilatation \- Hyperechogenic kidneys \- Cystic dysplasia \- Poor corticomedullary demarcation \- Oligonephronia \- Renal failure (in some patients) Ureters \- Urinary tract abnormalities \- Bifid ureter \- Absent ureter Bladder \- Vesicoureteral reflux SKIN, NAILS, & HAIR Skin \- Sacral pit (in some patients) MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Developmental delay (in some patients) \- Motor delay \- Speech delay PRENATAL MANIFESTATIONS Amniotic Fluid \- Oligohydramnios MISCELLANEOUS \- Onset at birth or early infancy \- Highly variable phenotype \- Extra-renal manifestations are variable \- Variable severity \- De novo mutation \- Some patients have a contiguous gene deletion syndrome involving the PBX1 gene MOLECULAR BASIS \- Caused by mutation in the pre-B-cell leukemia transcription factor 1 gene (PBX1, 176310.0001 ) ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY	c4539968	30,478	omim	https://www.omim.org/entry/617641	2019-09-22T15:45:17	{"omim": ["617641"]}
Heberden's node Heberden's nodes on the 2nd (index) finger of the right hand SpecialtyRheumatology Heberden's nodes are hard or bony swellings that can develop in the distal interphalangeal joints (DIP) (the joints closest to the end of the fingers and toes).[1] They are a sign of osteoarthritis and are caused by formation of osteophytes (calcific spurs) of the articular (joint) cartilage in response to repeated trauma at the joint.[2] Heberden's nodes typically develop in middle age, beginning either with a chronic swelling of the affected joints or the sudden painful onset of redness, numbness, and loss of manual dexterity. This initial inflammation and pain eventually subsides, and the patient is left with a permanent bony outgrowth that often skews the fingertip sideways. Bouchard's nodes may also be present; these are similar bony growths in the proximal interphalangeal (PIP) joints (middle joints of the fingers), and are also associated with osteoarthritis. Heberden's nodes are more common in women than in men, and there seems to be a genetic component involved in predisposition to the condition. They are named after William Heberden (1710–1801).[3] ## See also[edit] * Bouchard's nodes Also present in martial artists, in particular judoka and Brazilian jiu-jitsu practitioners. ## References[edit] 1. ^ Handbook of Medical-surgical Nursing. Lippincott Williams & Wilkins. 2006. p. 630. ISBN 9781582554457. 2. ^ Schoen, Delores Christina (2000). Adult Orthopaedic Nursing. Lippincott Williams & Wilkins. p. 60. ISBN 9780781718806. Retrieved 18 January 2018. "Heberden's node." 3. ^ William Heberden at Who Named It? ## External links[edit] Classification D * ICD-10: M15.1 * ICD-9-CM: 715.04 * OMIM: 140600 * DiseasesDB: 29319 * Diagram of Heberden's and Bouchard's nodes at WebMD * v * t * e Diseases of joints General * Arthritis * Monoarthritis * Oligoarthritis * Polyarthritis Symptoms * Joint pain * Joint stiffness Inflammatory Infectious * Septic arthritis * Tuberculosis arthritis Crystal * Chondrocalcinosis * CPPD (Psudogout) * Gout Seronegative * Reactive arthritis * Psoriatic arthritis * Ankylosing spondylitis Other * Juvenile idiopathic arthritis * Rheumatoid arthritis * Felty's syndrome * Palindromic rheumatism * Adult-onset Still's disease Noninflammatory * Hemarthrosis * Osteoarthritis * Heberden's node * Bouchard's nodes * Osteophyte [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Heberden's node	c0409957	30,479	wikipedia	https://en.wikipedia.org/wiki/Heberden%27s_node	2021-01-18T19:00:22	{"umls": ["C0409957", "C0018862"], "icd-9": ["715.04"], "icd-10": ["M15.1"], "wikidata": ["Q1034711"]}
For a phenotypic description and a discussion of genetic heterogeneity of essential hypertension, see 145500. Koivukoski et al. (2004) applied the genome-search metaanalysis method (GSMA) to 9 published genomewide scans, 5 of blood pressure (BP) and 4 of hypertension, from Caucasian populations. A weighting factor was introduced to take into account differences in individual study sample size. Chromosome 3p14.1-q12.3 showed consistent evidence of linkage to hypertension (unweighted P = 0.0001), diastolic BP (unweighted P = 0.007), hypertension and diastolic BP pooled (unweighted P = 0.00002), and hypertension and systolic BP pooled (unweighted P = 0.0003). Chromosome 2p12-q22.1 also showed some evidence of linkage to hypertension, diastolic BP, hypertension and diastolic BP pooled, and hypertension and systolic BP pooled. The summed ranks of the hypertension analysis correlated significantly with those of the diastolic BP but not with those of the systolic BP. The authors concluded that modest or nonsignificant linkage on chromosomes 3p14.1-q12.3 and 2p12-q22.1 in each individual study translated into genomewide-significant or highly suggestive linkages to hypertension and diastolic BP in their genome-search metaanalysis. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	HYPERTENSION, ESSENTIAL, SUSCEPTIBILITY TO, 7	c1970439	30,480	omim	https://www.omim.org/entry/610948	2019-09-22T16:03:53	{"omim": ["610948"], "synonyms": ["Alternative titles", "HYT7"]}
Pancreatic acinar metaplasia Micrograph of a gastro-esophageal junction with pancreatic acinar metaplasia. The esophageal mucosa (stratified squamous epithelium) is seen on the right. The gastric mucosa (simple columnar epithelium) is seen on the left. The metaplastic epithelial is at the junction (center of image) and has an intensely eosinophilic (bright pink) cytoplasm. H&E stain. SpecialtyOncology Pancreatic acinar metaplasia (PAM) is a common incidental histopathologic finding present in approximately 20-25% of patients undergoing an esophagogastroduodenoscopy.[1][2] ## Contents * 1 Signs and symptoms * 2 Cause * 3 Histopathology * 4 See also * 5 References ## Signs and symptoms[edit] Studies are mixed on whether it is associated with pathology and symptoms.[2] There is some epidemiological evidence to suggest is associated with gastroesophageal reflux and Helicobacter gastritis.[1] There is no evidence to suggest it is pre-neoplastic, like Barrett's esophagus.[citation needed] ## Cause[edit] A slight increased incidence with age suggests it is an acquired lesion,[1] as may be seen in a true metaplasia. ## Histopathology[edit] The histopathologic features of pancreatic acinar metaplasia are: (1) the presence of cell clusters that resembles a many-lobed "berry" (an acinus), with (2) cells that are histomorphologically identical to the glands of the exocrine pancreas. ## See also[edit] * Metaplasia ## References[edit] 1. ^ a b c Johansson J, Håkansson HO, Mellblom L, et al. (March 2010). "Pancreatic acinar metaplasia in the distal oesophagus and the gastric cardia: prevalence, predictors and relation to GORD". J. Gastroenterol. 45 (3): 291–9. doi:10.1007/s00535-009-0161-4. PMID 20012917. S2CID 25550957. 2. ^ a b Wang HH, Zeroogian JM, Spechler SJ, Goyal RK, Antonioli DA (December 1996). "Prevalence and significance of pancreatic acinar metaplasia at the gastroesophageal junction". Am. J. Surg. Pathol. 20 (12): 1507–10. doi:10.1097/00000478-199612000-00010. PMID 8944044. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Pancreatic acinar metaplasia	None	30,481	wikipedia	https://en.wikipedia.org/wiki/Pancreatic_acinar_metaplasia	2021-01-18T18:29:12	{"wikidata": ["Q7130404"]}
Leri Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty. People with this condition often experience pain in their wrists or arms. The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. Other features of Leri Weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called tibia, elbow abnormalities, scoliosis, and high-arched palate. Intelligence is not affected by this condition. Most cases of Leri Weill dyschondrosteosis are caused by mutations in or near the SHOX gene. The cause of the disorder remains unknown in those cases not related to the SHOX gene. Leri Weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance, which is similar to the autosomal dominant inheritance. LWD is part of a group of diseases caused by deficiency of the SHOX gene, which includes a form or SHOX related short stature without additional problems. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Leri Weill dyschondrosteosis	c0265309	30,482	gard	https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis	2021-01-18T17:59:27	{"mesh": ["C537119"], "omim": ["127300"], "orphanet": ["240"], "synonyms": ["LWD", "Dyschondrosteosis", "DCO", "Léri-Weill dyschondrosteosis"]}
Legionnaires’ disease is a severe type of pneumonia caused by the bacteria Legionella. The species Legionella pneumophila causes most cases, but other species of Legionella can also cause the disease. It is named Legionnaires’ disease because it was first discovered after a pneumonia outbreak among people who attended an American Legion Convention in Philadelphia, Pennsylvania in 1976. Most people exposed to Legionella do not become sick with Legionnaires' disease. People who do become sick usually develop symptoms within 2 to 10 days after exposure, but it may take longer. The first symptoms may include headache, chills, muscle pains, and a fever that can be 104°F (40°C) or higher. Additional symptoms usually develop 1 to 2 days after the first symptoms and may include coughing, shortness of breath, chest pain, diarrhea, nausea and vomiting, and confusion. While Legionnaires’ disease mainly affects the lungs, it sometimes causes infections in other parts of the body, such as the heart or within body wounds. A person can become infected from Legionella when they inhale mist or water droplets that contain the bacteria. Sources of exposure may include showers, faucets, whirlpools, grocery store misters, and water droplets passing through ventilation systems in large buildings (such as hotels, office buildings, and hospitals). People who are more susceptible to developing Legionnaires' disease after an exposure include adults over age 50, current or former smokers, and people who have a weakened immune system or a chronic disease. Generally, neither the bacteria nor Legionnaires' disease is spread directly from person to person. While large exposures can result in outbreaks, the disease usually occurs in single, isolated cases. Legionnaires' disease may be suspected by symptoms. Pneumonia can be confirmed by a chest X-ray. Legionnaires' disease is diagnosed when one of the species of Legionella is found to be the cause of the pneumonia by testing a urine sample (urine culture) or a sample of saliva and mucus that is coughed up (sputum culture). Without treatment, the disease can be fatal. People with the disease who are otherwise healthy usually recover with antibiotics, although they may need to be cared for in a hospital. About 1 in 10 people with Legionnaires’ disease will not survive due to complications such as respiratory failure, kidney failure, or septic shock. Of note, Legionella can also cause a milder illness called Pontiac fever, which causes flu-like symptoms, but does not cause pneumonia. Pontiac fever typically goes away without specific treatment. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Legionnaires’ disease	c0023240	30,483	gard	https://rarediseases.info.nih.gov/diseases/6876/legionnaires-disease	2021-01-18T17:59:28	{"mesh": ["D007876"], "omim": ["608556"], "orphanet": ["549"], "synonyms": ["Legionellosis", "Legionnaires disease"]}
The term cryptic pregnancy is used by medical professionals to describe a pregnancy that is not recognized by the person who is pregnant until they are in labor or have given birth.[1] The term is also used online for a special form of false pregnancy (pseudocyesis), or delusion of pregnancy, in which a person who has no medical verification of pregnancy believes that they are pregnant, often for years. ## Contents * 1 Medically cryptic pregnancies * 2 Causes * 3 Epidemiology * 4 In history * 5 Cryptic pregnancy as a delusion of pregnancy * 5.1 Causes * 5.2 Dr. Phil Show * 5.3 In history * 6 See also * 7 References ## Medically cryptic pregnancies[edit] The television series I Didn't Know I Was Pregnant[2] shared the stories of women who had experienced medically cryptic pregnancies. They didn't realize they were pregnant until they were in labor or had given birth. Nearly all the featured stories involved women who continued to have their period as usual throughout their pregnancy, while some cited not having regular periods due to polycystic ovarian syndrome (PCOS), or other conditions that are associated with infertility. The women involved often did not gain weight or experience other major symptoms of pregnancy, such as morning sickness or breast sensitivity. Those who did experience some symptoms of pregnancy either claimed to attribute the symptoms to an existing condition, claimed to have taken a home pregnancy test and gotten a negative result, or both. A few of the stories involved women who had known they were pregnant and experienced an early miscarriage, only to realize they were still pregnant when the baby was being born. It is common that after the birth the new parent looks back and realizes that there were some signs of pregnancy they had ignored. For women who have had a typical pregnancy, the assumption is that there is no way to not "feel" a pregnancy. However, obstetricians on the show explained that, depending on the position of the placenta, the sensations of a baby moving can be minimal. In 2015, the show's spin off, "I Still Didn't Know I Was Pregnant", featured women who had experienced multiple medically cryptic pregnancies.[3] ## Causes[edit] The causes of medically cryptic pregnancies are either physiological, that is, there were no recognizable symptoms of pregnancy, or can be due to psychological problems. For example, denied pregnancy is a condition in which a woman is mentally unable to accept that she is pregnant and so may go part way or all the way through a pregnancy unconscious of her pregnancy. This phenomenon is sometimes linked to other mental health diagnostic labels.[4] However, denied pregnancy makes up only a proportion of all unknown pregnancies. ## Epidemiology[edit] 1 in 7,225 pregnancies are unknown at the time the mother gives birth.[5] ## In history[edit] Pope Joan, a character from 14th century European literature is said to have been a pope during the 9th century in the guise of a man until she went into labor while on procession. Though modern scholars consider her to be a fictional character, it shows a recognition of medically cryptic pregnancies in the European Middle Ages.[citation needed] ## Cryptic pregnancy as a delusion of pregnancy[edit] The Gilmour Foundation, an Internet-based foundation which styles itself as an expert on cryptic pregnancy, claims a cryptic pregnancy is one that is missed by pregnancy tests and ultrasounds. They claim these pregnancies occur because of an abnormally slow-growing fetus, and gestate for years or even decades. The foundation has said that this causes the human chorionic gonadotropin (hCG) hormone to be too low to be detected by medical tests and, because the pregnancy is smaller or located outside the uterus, it is missed on ultrasounds.[6] However, there is no medical literature to support the existence of cryptic pregnancy as described by the Gilmour Foundation. Rather, this type of "cryptic pregnancy" should be understood as a form of delusion.[7] ### Causes[edit] For the most part, this form of cryptic pregnancy is a psychological issue. Some people with this mental illness show symptoms of pregnancy, such as amenorrhea, weight gain, nausea, etc., which could be caused by the delusion or by its underlying cause. ### Dr. Phil Show[edit] Dr. Phil featured women on his talk show who believed they had been pregnant for years with a cryptic pregnancy. Despite negative urine and blood tests, and medical imaging of their abdomens showing no pregnancy, the women persisted in their belief they were pregnant, including one who had had a tubal ligation in her early 20s.[8] Dr. Thais Aliabadi was the expert guest on the show and explained that many women claim to have a cryptic pregnancy to explain physical symptoms they associate with pregnancy, such as weight gain in the abdomen, mood swings, sore breasts and food cravings.[9] ### In history[edit] Queen Mary I of England is rumored to have experienced false pregnancy, which may be considered cryptic, because she continued to believe she was pregnant past the expected due month. However, because of the limitations of medical technology, and the delicacy of inspecting the body of the queen, doctors would have had great difficulty in verifying a pregnancy, including whether it was a tumor or a molar pregnancy. During one of her false pregnancies, Mary believed herself to be pregnant for nearly a year after her period stopped, when suddenly her abdomen flattened without her going into labor.[citation needed] ## See also[edit] * False Pregnancy * I Didn't Know I Was Pregnant ## References[edit] 1. ^ "What is a Cryptic Pregnancy?". News-Medical.net. 2019-09-10. Retrieved 2019-11-12. 2. ^ Unknowingly Pregnant Woman Attends Military Training \| I Didn't Know I Was Pregnant, retrieved 2019-11-12 3. ^ "Meet the Woman Who Didn't Know She Was Pregnant – Twice!". PEOPLE.com. Retrieved 2019-11-12. 4. ^ Goad, Kimberly. "Can You Be Pregnant and Not Know It?". WebMD. Retrieved 2019-11-12. 5. ^ Dordević, Momcilo; Jovanović, Bozidar; Dordević, Gordana (2010). "Unknown pregnancy--presentation of the case". Medicinski pregled. 63 (9–10): 728–730. doi:10.2298/mpns1010728d. 6. ^ "What is a Cryptic Pregnancy and What Causes it?". Cryptic Pregnancy Support Group & The Gilmour Foundation. Retrieved 2017-12-30. 7. ^ Yadav, Tarun; Balhara, Yatan Pal Singh; Kataria, Dinesh Kumar (2012). "Pseudocyesis Versus Delusion of Pregnancy: Differential Diagnoses to be Kept in Mind". Indian Journal of Psychological Medicine. 34 (1): 82–84. doi:10.4103/0253-7176.96167. ISSN 0253-7176. PMC 3361851. PMID 22661815. 8. ^ "A Woman Claims to Be Pregnant for 3 Years 7 Months". Dr. Phil. 2018-10-31. Retrieved 2019-11-12. 9. ^ Team, Her Warm Professional; life, Dr Aliabadi treats women through all phases of; Patient, Cherishes the Special One-on-One Relationship Between; doctor. (2019-09-12). "Woman to Dr. Phil: "I've Been Pregnant For 3 Years" featuring Dr. Aliabadi". Dr. Aliabadi, Los Angeles OBGYN, Surgeon. Retrieved 2019-11-12. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Cryptic pregnancy	None	30,484	wikipedia	https://en.wikipedia.org/wiki/Cryptic_pregnancy	2021-01-18T18:29:15	{"wikidata": ["Q16953069"]}
State in which a body lacks enough iron to supply its needs For other uses, see Iron deficiency (disambiguation). Iron deficiency Other namesSideropenia, hypoferremia Iron in heme SpecialtyHematology Iron deficiency, or sideropenia, is the state in which a body lacks enough iron to supply its needs. Iron is present in all cells in the human body and has several vital functions, such as carrying oxygen to the tissues from the lungs as a key component of the hemoglobin protein, acting as a transport medium for electrons within the cells in the form of cytochromes, and facilitating oxygen enzyme reactions in various tissues. Too little iron can interfere with these vital functions and lead to morbidity and death.[1] Total body iron averages approximately 3.8 g in men and 2.3 g in women. In blood plasma, iron is carried tightly bound to the protein transferrin. There are several mechanisms that control iron metabolism and safeguard against iron deficiency. The main regulatory mechanism is situated in the gastrointestinal tract. The majority of iron absorption occurs in the small intestine called duodenum. A number of dietary factors may affect iron absorption. When loss of iron is not sufficiently compensated by intake of iron from the diet, a state of iron deficiency develops over time. When this state is uncorrected, it leads to iron-deficiency anemia, a common type of anemia.[1] Before anemia occurs, the medical condition of iron deficiency without anemia is called latent iron deficiency (LID). Anemia is a condition characterized by inadequate red blood cells (erythrocytes) or hemoglobin. When the body lacks sufficient amounts of iron, production of the protein hemoglobin is reduced. Hemoglobin binds to oxygen, enabling red blood cells to supply oxygenated blood throughout the body. Women of child-bearing age,[2] children, and people with poor diet are most susceptible to the disease. Most cases of iron-deficiency anemia are mild, but if not treated can cause problems like an irregular heartbeat, pregnancy complications, and delayed growth in infants and children that could affect their cognitive development and their behavior.[3] ## Contents * 1 Signs and symptoms * 1.1 Signs and symptoms in children * 1.2 Iron requirements in young children to teenagers * 2 Causes * 2.1 Athletics * 2.2 Inadequate intake * 3 Bioavailability * 4 Diagnosis * 5 Treatment * 5.1 Food sources * 5.1.1 Food recommendations for children * 5.2 Blood transfusion * 6 See also * 7 Notes * 8 References * 9 Further reading * 10 External links ## Signs and symptoms[edit] Deaths due to iron-deficiency anemia per million persons in 2012 0 1 2-3 4-5 6-8 9-12 13-19 20-30 31-74 75-381 Disability-adjusted life year for iron-deficiency anemia per 100,000 inhabitants in 2004[4] no data less than 50 50-100 100-150 150-200 200-250 250-300 300-350 350-400 400-450 450-500 500-1000 more than 1000 Symptoms of iron deficiency can occur even before the condition has progressed to iron deficiency anemia. Symptoms of iron deficiency are not unique to iron deficiency (i.e. not pathognomonic). Iron is needed for many enzymes to function normally, so a wide range of symptoms may eventually emerge, either as the secondary result of the anemia, or as other primary results of iron deficiency. Symptoms of iron deficiency include: * fatigue * dizziness/lightheadedness * pallor * hair loss * twitches * irritability * weakness * pica * brittle or grooved nails * hair thinning * Plummer–Vinson syndrome: painful atrophy of the mucous membrane covering the tongue, the pharynx and the esophagus * impaired immune function[5] * pagophagia * restless legs syndrome[6] Continued iron deficiency may progress to anemia and worsening fatigue. Thrombocytosis, or an elevated platelet count, can also result. A lack of sufficient iron levels in the blood is a reason that some people cannot donate blood. ### Signs and symptoms in children[edit] * pale skin * fatigue * slowed growth and development * poor appetite * behavioral problems * abnormal rapid breathing * frequent infection ### Iron requirements in young children to teenagers[edit] Age group Recommended amount of iron a day[7] 7 – 12 months 11 mg 1 – 3 years 7 mg 4 – 8 years 10 mg 9 – 13 years 8 mg 14 – 18 years, girls 15 mg 14 – 18 years, boys 11 mg ## Causes[edit] * blood loss (hemoglobin contains iron) * donation * excessive menstrual bleeding * non-menstrual bleeding * bleeding from the gastrointestinal tract (ulcers, hemorrhoids, ulcerative colitis, stomach or colon cancer, etc.) * rarely, laryngological bleeding or from the respiratory tract * inadequate intake (see below) * substances (in diet or drugs) interfering with iron absorption * Fluoroquinolone antibiotics[8] * malabsorption syndromes * inflammation where it is adaptive to limit bacterial growth in infection, but is also present in many other chronic diseases such as Inflammatory bowel disease and rheumatoid arthritis * parasitic infection Though genetic defects causing iron deficiency have been studied in rodents, there are no known genetic disorders of human iron metabolism that directly cause iron deficiency. ### Athletics[edit] Possible reasons that athletics may contribute to lower iron levels includes mechanical hemolysis (destruction of red blood cells from physical impact), loss of iron through sweat and urine, gastrointestinal blood loss, and haematuria (presence of blood in urine).[9][10] Although small amounts of iron are excreted in sweat and urine, these losses can generally be seen as insignificant even with increased sweat and urine production, especially considering that athletes' bodies appear to become conditioned to retain iron better.[9] Mechanical hemolysis is most likely to occur in high-impact sports, especially among long-distance runners who experience "foot-strike hemolysis" from the repeated impact of their feet with the ground. Exercise-induced gastrointestinal bleeding is most likely to occur in endurance athletes. Haematuria in athletes is most likely to occur in those that undergo repetitive impacts on the body, particularly affecting the feet (such as running on a hard road, or Kendo) and hands (e.g. Conga or Candombe drumming). Additionally, athletes in sports that emphasize weight loss (e.g. ballet, gymnastics, marathon running, and wrestling) as well as sports that emphasize high-carbohydrate, low-fat diets, may be at an increased risk for iron deficiency.[9][10] ### Inadequate intake[edit] A U.S. federal survey of food consumption determined that for women and men over the age of 19, average iron consumption from foods and beverages was 13.1 and 18.0 mg/day, respectively. For women, 16% in the age range 14–50 years consumed less than the Estimated Average Requirement (EAR), for men ages 19 and up, fewer than 3%.[11] Consumption data were updated in a 2014 U.S. government survey and reported that for men and women ages 20 and older the average iron intakes were, respectively, 16.6 and 12.6 mg/day.[12] People in the U.S. usually obtain adequate amounts of iron from their diets. However, subgroups like infants, young children, teenaged girls, pregnant women, and premenopausal women are at risk of obtaining less than the EAR.[13] Socio-economic and racial differences further affect the rates of iron deficiency.[13] ## Bioavailability[edit] Iron is needed for bacterial growth making its bioavailability an important factor in controlling infection.[14] Blood plasma as a result carries iron tightly bound to transferrin, which is taken up by cells by endocytosing transferrin, thus preventing its access to bacteria.[15] Between 15 and 20 percent of the protein content in human milk consists of lactoferrin[16] that binds iron. As a comparison, in cow's milk, this is only 2 percent. As a result, breast fed babies have fewer infections.[15] Lactoferrin is also concentrated in tears, saliva and at wounds to bind iron to limit bacterial growth. Egg white contains 12% conalbumin to withhold it from bacteria that get through the egg shell (for this reason, prior to antibiotics, egg white was used to treat infections).[17] To reduce bacterial growth, plasma concentrations of iron are lowered in a variety of systemic inflammatory states due to increased production of hepcidin which is mainly released by the liver in response to increased production of pro-inflammatory cytokines such as interleukin-6. This functional iron deficiency will resolve once the source of inflammation is rectified; however, if not resolved, it can progress to anaemia of chronic inflammation. The underlying inflammation can be caused by fever,[18] inflammatory bowel disease, infections, chronic heart failure (CHF), carcinomas, or following surgery. Reflecting this link between iron bioavailability and bacterial growth, the taking of oral iron supplements in excess of 200 mg/day causes a relative overabundance of iron that can alter the types of bacteria that are present within the gut. There have been concerns regarding parenteral iron being administered whilst bacteremia is present, although this has not been borne out in clinical practice. A moderate iron deficiency, in contrast, can provide protection against acute infection, especially against organisms that reside within hepatocytes and macrophages, such as malaria and tuberculosis. This is mainly beneficial in regions with a high prevalence of these diseases and where standard treatment is unavailable. ## Diagnosis[edit] * A complete blood count can reveal microcytic anemia,[19] although this is not always present – even when iron deficiency progresses to iron-deficiency anemia. * Low serum ferritin (see below) * Low serum iron * High TIBC (total iron binding capacity), although this can be elevated in cases of anemia of chronic inflammation. * It is possible that the fecal occult blood test might be positive, if iron deficiency is the result of gastrointestinal bleeding; although the sensitivity of the test may mean that in some cases it will be negative even with enteral blood loss. As always, laboratory values have to be interpreted with the lab's reference values in mind and considering all aspects of the individual clinical situation. Serum ferritin can be elevated in inflammatory conditions; so a normal serum ferritin may not always exclude iron deficiency, and the utility is improved by taking a concurrent C-reactive protein (CRP). The level of serum ferritin that is viewed as "high" depends on the condition. For example, in inflammatory bowel disease the threshold is 100, where as in chronic heart failure (CHF) the levels are 200. ## Treatment[edit] Before commencing treatment, there should be definitive diagnosis of the underlying cause for iron deficiency. This is particularly the case in older patients, who are most susceptible to colorectal cancer and the gastrointestinal bleeding it often causes. In adults, 60% of patients with iron-deficiency anemia may have underlying gastrointestinal disorders leading to chronic blood loss.[20] It is likely that the cause of the iron deficiency will need treatment as well. Upon diagnosis, the condition can be treated with iron supplements. The choice of supplement will depend upon both the severity of the condition, the required speed of improvement (e.g. if awaiting elective surgery) and the likelihood of treatment being effective (e.g. if the patient has underlying IBD, is undergoing dialysis, or is having ESA therapy). Examples of oral iron that are often used are ferrous sulfate, ferrous gluconate, or amino acid chelate tablets. Recent research suggests the replacement dose of iron, at least in the elderly with iron deficiency, may be as little as 15 mg per day of elemental iron.[21] ### Food sources[edit] Mild iron deficiency can be prevented or corrected by eating iron-rich foods and by cooking in an iron skillet. Because iron is a requirement for most plants and animals, a wide range of foods provide iron. Good sources of dietary iron have heme-iron, as this is most easily absorbed and is not inhibited by medication or other dietary components. Three examples are red meat, poultry, and insects.[22][23] Non-heme sources do contain iron, though it has reduced bioavailability. Examples are lentils, beans, leafy vegetables, pistachios, tofu, fortified bread, and fortified breakfast cereals. Iron from different foods is absorbed and processed differently by the body; for instance, iron in meat (heme-iron source) is more easily absorbed than iron in grains and vegetables ("non-heme" iron sources).[24] Minerals and chemicals in one type of food may also inhibit absorption of iron from another type of food eaten at the same time.[25] For example, oxalates and phytic acid form insoluble complexes which bind iron in the gut before it can be absorbed. Because iron from plant sources is less easily absorbed than the heme-bound iron of animal sources, vegetarians and vegans should have a somewhat higher total daily iron intake than those who eat meat, fish or poultry.[26] Legumes and dark-green leafy vegetables like broccoli, kale and oriental greens are especially good sources of iron for vegetarians and vegans. However, spinach and Swiss chard contain oxalates which bind iron, making it almost entirely unavailable for absorption.[citation needed] Iron from non-heme sources is more readily absorbed if consumed with foods that contain either heme-bound iron or vitamin C. This is due to a hypothesised "meat factor" which enhances iron absorption.[27] Following are two tables showing the richest foods in heme and non-heme iron.[28][unreliable source?] In both tables, food serving sizes may differ from the usual 100g quantity for relevancy reasons[clarify]. Arbitrarily, the guideline is set at 18 mg, which is the USDA Recommended Dietary Allowance for women aged between 19 and 50.[29] Abstract: richest foods in heme iron Food Serving size Iron % guideline clam[a] 100g 28 mg 155% pork liver 100g 18 mg 100% lamb kidney 100g 12 mg 69% cooked oyster 100g 12 mg 67% cuttlefish 100g 11 mg 60% lamb liver 100g 10 mg 57% octopus 100g 9.5 mg 53% mussel 100g 6.7 mg 37% beef liver 100g 6.5 mg 36% beef heart 100g 6.4 mg 35% Abstract: richest foods in non-heme iron Food Serving size Iron % guideline raw yellow beans 100g 7 mg 35% spirulina 15g 4.3 mg 24% falafel 140g 4.8 mg 24% soybean kernels 125ml=1/2cup 4.6 mg 23% spinach 125g 4.4 mg 22% lentil 125ml=1/2cup 3.5 mg 17.5% treacle (CSR Australia) 20ml=1Tbsp 3.4 mg 17% molasses (Bluelabel Australia) 20ml=1Tbsp 1.8 mg 9% candied ginger root 15g~3p 1.7 mg 8.5% toasted sesame seeds 10g 1.4 mg 7% cocoa (dry powder) 5g~1Tbsp .8 mg 4% #### Food recommendations for children[edit] Children at 6 months should start having solid food that contains enough iron, which could be found in both heme and non-heme iron[33] Heme iron : * Red meat (for example, beef, pork, lamb, goat, or venison) * Fatty fish * Poultry (for example, chicken or turkey) * Eggs Non-heme iron : * Iron-fortified infant cereals * Tofu * Beans and lentils * Dark green leafy vegetables Iron deficiency can have serious health consequences that diet may not be able to quickly correct; hence, an iron supplement is often necessary if the iron deficiency has become symptomatic. ### Blood transfusion[edit] Blood transfusion is sometimes used to treat iron deficiency with hemodynamic instability.[34] Sometimes transfusions are considered for people who have chronic iron deficiency or who will soon go to surgery, but even if such people have low hemoglobin, they should be given oral treatment or intravenous iron.[34] ## See also[edit] * Bahima disease * CO2 fertilization effect ## Notes[edit] 1. ^ Iron content in clams can vary considerably between types and modes of preparation, and the presence of aluminium could reduce iron bioavailability.[30] The bioaccumulation of heavy metals in clams from highly contaminated areas may make regular consumption unsafe in the long term.[31][32] ## References[edit] 1. ^ a b Centers for Disease Control and Prevention (3 April 1998). "Recommendations to Prevent and Control Iron Deficiency in the United States". Morbidity and Mortality Weekly Report. Recommendations and Reports. 47 (RR-3): 1–36. PMID 9563847. 2. ^ "Women of reproductive age (15-49 years) population (thousands)". www.who.int. 3. ^ "Iron and Iron Deficiency". Centers for Disease Control and Prevention. 23 February 2011. Archived from the original on 8 September 2014. Retrieved 12 August 2014. 4. ^ "Mortality and Burden of Disease Estimates for WHO Member States in 2002" (xls). World Health Organization. 2002. 5. ^ Wintergerst, E. S.; Maggini, S.; Hornig, D. H. (2007). "Contribution of Selected Vitamins and Trace Elements to Immune Function" (PDF). Annals of Nutrition and Metabolism. 51 (4): 301–323. doi:10.1159/000107673. PMID 17726308. 6. ^ Rangarajan, Sunad; D'Souza, George Albert. (April 2007). "Restless legs syndrome in Indian patients having iron deficiency anemia in a tertiary care hospital". Sleep Medicine. 8 (3): 247–51. doi:10.1016/j.sleep.2006.10.004. PMID 17368978. 7. ^ "Is your child getting enough iron?". Mayo Clinic. Retrieved 26 April 2019. 8. ^ Badal S, Her YF, Maher LJ 3rd (September 2015). "Nonantibiotic Effects of Fluoroquinolones in Mammalian Cells". J Biol Chem. 290 (36): 22287–97. doi:10.1074/jbc.M115.671222. PMC 4571980. PMID 26205818.CS1 maint: multiple names: authors list (link) 9. ^ a b c Nielson, Peter; Nachtigall, Detlef (October 1998). "Iron supplementation in athletes: current recommendations" (PDF). Sports Med. 26 (4): 207–216. doi:10.2165/00007256-199826040-00001. PMID 9820921. Retrieved 7 July 2013.[dead link] 10. ^ a b Chatard, Jean-Claude; Mujika, Iñigo; Guy, Claire; Lacour, Jean-René (April 1999). "Anaemia and Iron Deficiency in Athletes Practical Recommendations for Treatment" (PDF). Sports Med. 4. 27 (4): 229–240. doi:10.2165/00007256-199927040-00003. PMID 10367333. Retrieved 7 July 2013. 11. ^ What We Eat In America, NHANES 2001–2002 Archived 6 January 2015 at the Wayback Machine. see Table A12: Iron. 12. ^ What We Eat In America, NHANES 2013-2014. 13. ^ a b "Iron". Fact Sheet for Health Professionals. Office of Dietary Supplements. National Institutes of Health. February 2020. 14. ^ Kluger, M. J.; Rothenburg, B. A. (1979). "Fever and reduced iron: Their interaction as a host defense response to bacterial infection". Science. 203 (4378): 374–376. doi:10.1126/science.760197. PMID 760197. 15. ^ a b Nesse, R. M.; Williams, G. C. Why We Get Sick: The New Science of Darwinian Medicine. New York. page 30 ISBN 0-679-74674-9. 16. ^ T. William Hutchens, Bo Lönnerdal; Lactoferrin: Interactions and Biological Functions (1997). page 379 on Google Books 17. ^ Nesse, R. M.; Williams, G. C. Why We Get Sick: The New Science of Darwinian Medicine. New York. page 29 ISBN 0-679-74674-9. 18. ^ Weinberg, E. D. (1984). "Iron withholding: A defense against infection and neoplasia". Physiological Reviews. 64 (1): 65–102. doi:10.1152/physrev.1984.64.1.65. PMID 6420813. 19. ^ Longmore, Murray; Ian B. Wilkinson; Supaj Rajagoplan (2004). Oxford Handbook of Clinical Medicine (6th ed.). Oxford University Press. pp. 626–628. ISBN 0-19-852558-3. 20. ^ Rockey D, Cello J (1993). "Evaluation of the gastrointestinal tract in patients with iron-deficiency anemia". N Engl J Med. 329 (23): 1691–5. doi:10.1056/NEJM199312023292303. PMID 8179652. 21. ^ Rimon E, Kagansky N, Kagansky M, Mechnick L, Mashiah T, Namir M, Levy S (2005). "Are we giving too much iron? Low-dose iron therapy is effective in octogenarians". Am J Med. 118 (10): 1142–7. doi:10.1016/j.amjmed.2005.01.065. PMID 16194646. 22. ^ Defoliart G (1992). "Insects as Human Food". Crop Protection. 11 (5): 395–99. doi:10.1016/0261-2194(92)90020-6. 23. ^ Bukkens SGF (1997). "The Nutritional Value of Edible Insects". Ecol. Food. Nutr. 36 (2–4): 287–319. doi:10.1080/03670244.1997.9991521. 24. ^ Iron deficiency Archived 8 August 2006 at the Wayback Machine Food Standards Agency. 25. ^ Iron in diet. MedlinePlus. 26. ^ Mangels, Reed. Iron in the vegan diet. The Vegetarian Resource Group. 27. ^ Iron. The Merck Manuals Online Medical Library. 28. ^ iron rich foods Archived 18 May 2017 at the Wayback Machine. Rich Foods. 29. ^ Dietary Reference Intakes: Recommended Intakes for Individuals Archived 6 September 2013 at the Wayback Machine National Academy of Sciences. Institute of Medicine. Food and Nutrition Board. 30. ^ "Evaluation of clams as a food source of iron: Total iron, heme iron, aluminum, and in vitro iron bioavailability in live and processed clams - PubAg". pubag.nal.usda.gov. Retrieved 29 April 2019. 31. ^ Rahman, Md Rezaur; Hamdan, Sinin; Hossen, Md Faruk (2015). "Review on the Risk Assessment of Heavy Metals in Malaysian Clams". The Scientific World Journal. 2015: 905497. doi:10.1155/2015/905497. PMC 4427851. PMID 26060840. 32. ^ Fang, Zhan-Qiang; Cheung, R. Y. H.; Wong, M. H. (January 2003). "Heavy metals in oysters, mussels and clams collected from coastal sites along the Pearl River Delta, South China". Journal of Environmental Sciences (China). 15 (1): 9–24. ISSN 1001-0742. PMID 12602597. 33. ^ CDC (3 December 2018). "Iron - Infant and Toddler Nutrition". Centers for Disease Control and Prevention. Retrieved 26 April 2019. 34. ^ a b American Association of Blood Banks (24 April 2014), "Five Things Physicians and Patients Should Question", Choosing Wisely: an initiative of the ABIM Foundation, American Association of Blood Banks, archived from the original on 24 September 2014, retrieved 25 July 2014, which cites * AABB (2011). Guidelines for Patient Blood Management and Blood. ISBN 978-1-56395-333-0. Archived from the original on 15 October 2014. Retrieved 28 July 2014. * Lin, DM; Lin, ES; Tran, MH (October 2013). "Efficacy and safety of erythropoietin and intravenous iron in perioperative blood management: a systematic review". Transfusion Medicine Reviews. 27 (4): 221–34. doi:10.1016/j.tmrv.2013.09.001. PMID 24135037. ## Further reading[edit] * Gropper, Sareen S; Smith, Jack L; Groff, James L (2009). "Enhancers and inhibitors of iron absorption". Advanced Nutrition and Human Metabolism (5th ed.). Belmont, California: Wadsworth, Cengage Learning. ISBN 978-0-495-11657-8. * Umbreit, Jay (2005). "Iron deficiency: A concise review". American Journal of Hematology. 78 (3): 225–231. doi:10.1002/ajh.20249. PMID 15726599. * Nutrition,Iron (2018).Centers for Disease Control and Prevention. * Is Your Child Getting Enough Ion? (2019). Mayo clinic ## External links[edit] Classification D * ICD-10: E61.1 * DiseasesDB: 6947 * Recommendations to Prevent and Control Iron Deficiency in the United States * NHS.UK * v * t * e Malnutrition Protein-energy malnutrition * Kwashiorkor * Marasmus * Catabolysis Vitamin deficiency B vitamins * B1 * Beriberi * Wernicke–Korsakoff syndrome * Wernicke's encephalopathy * Korsakoff's syndrome * B2 * Riboflavin deficiency * B3 * Pellagra * B6 * Pyridoxine deficiency * B7 * Biotin deficiency * B9 * Folate deficiency * B12 * Vitamin B12 deficiency Other * A: Vitamin A deficiency * Bitot's spots * C: Scurvy * D: Vitamin D deficiency * Rickets * Osteomalacia * Harrison's groove * E: Vitamin E deficiency * K: Vitamin K deficiency Mineral deficiency * Sodium * Potassium * Magnesium * Calcium * Iron * Zinc * Manganese * Copper * Iodine * Chromium * Molybdenum * Selenium * Keshan disease Growth * Delayed milestone * Failure to thrive * Short stature * Idiopathic General * Anorexia * Weight loss * Cachexia * Underweight [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Iron deficiency	c0240066	30,485	wikipedia	https://en.wikipedia.org/wiki/Iron_deficiency	2021-01-18T18:51:23	{"umls": ["C0240066"], "icd-9": ["280.9"], "icd-10": ["E61.1"], "wikidata": ["Q1313081"]}
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	c4706610	30,486	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137608	2021-01-23T17:14:54	{"synonyms": ["SOLAMEN syndrome"]}
Central areolar choroidal dystrophy (CACD) is a hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Central areolar choroidal dystrophy	c1536451	30,487	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75377	2021-01-23T19:01:21	{"gard": ["10049"], "mesh": ["C535358"], "omim": ["215500", "613105", "613144"], "umls": ["C1536451"], "icd-10": ["H31.2"], "synonyms": ["Areolar atrophy of the macula", "CACD", "Central areolar choroidal sclerosis"]}
Kaplan (1964) claimed that the relative length of the hallux and second toe is simply inherited, long hallux being recessive. In Cleveland Caucasoids the frequency of the dominant and recessive phenotypes was 24% and 76%, respectively. Usually the first toe is longest, although in the Ainu the second toe is said to be longest in 90% of persons. In Sweden, Romanus (1949) found the second toe longest in 2.95% of 8,141 men. Romanus thought that long second toe is dominant with reduced penetrance. Beers and Clark (1942) described a family in which long second toe occurred in 10 persons in 3 generations. Limbs \- Second toe longer than first Inheritance \- Autosomal dominant ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	TOES, RELATIVE LENGTH OF FIRST AND SECOND	c1861059	30,488	omim	https://www.omim.org/entry/189200	2019-09-22T16:32:30	{"omim": ["189200"]}
Blastocystosis Blastocystis sp. SpecialtyInfectious disease Blastocystosis refers to a medical condition caused by infection with Blastocystis. Blastocystis is a protozoal, single-celled parasite that inhabits the gastrointestinal tracts of humans and other animals. Many different types of Blastocystis exist, and they can infect humans, farm animals, birds, rodents, amphibians, reptiles, fish, and even cockroaches. Blastocystosis has been found to be a possible risk factor for development of irritable bowel syndrome.[1] ## Contents * 1 Signs and symptoms * 1.1 Variation in severity * 1.2 Associations * 2 Transmission and risk factors * 3 Pathogeneses * 4 Diagnosis * 4.1 Clinically available * 4.2 Not clinically available * 4.3 Classification * 5 Treatment * 6 Epidemiology * 7 Other animals * 8 Research * 9 See also * 10 References * 11 External links ## Signs and symptoms[edit] Researchers have published conflicting reports concerning whether Blastocystis causes symptoms in humans, with one of the earliest reports in 1916.[2] The incidence of reports associated with symptoms began to increase in 1984,[3] with physicians from Saudi Arabia reporting symptoms in humans[4] and US physicians reporting symptoms in individuals with travel to less developed countries.[5] A lively debate ensued in the early 1990s, with some physicians objecting to publication of reports that Blastocystis caused disease.[6][7][8][9] Some researchers believe the debate has been resolved by finding of multiple species of Blastocystis that can infect humans, with some causing symptoms and others being harmless (see Genetics and Symptoms). A few of most commonly reported symptoms are: * abdominal pain[10] * itching, usually anal itching[10] * constipation[10] * diarrhea[10] * watery or loose stools[10] * weight loss[10] * fatigue * flatulence[10] Some less commonly reported symptoms include: * Skin rash[11][12][13][14][15] * Arthritic symptoms and joint pain[16][17] * Intestinal inflammation[18] ### Variation in severity[edit] Researchers have sought to develop models to understand the variety of symptoms seen in humans. Some patients do not have symptoms, while others report severe diarrhea and fatigue. A number of researchers have investigated the possibility that some species of Blastocystis are more virulent than others. An Italian researcher reported differences in the protein profiles of isolates associated with chronic and acute infection.[19] A research team from Malaysia reported that isolates from symptomatic patients produced large amoeboid forms that were not present in isolates from asymptomatic patients.[20] The development of a classification system for Blastocystis in 2007 produced a series of studies investigating this possibility. The studies that followed generally found that no specific "pathogenic" or nonpathogenic species of Blastocystis exists.[21][22] One study investigated the subtypes found in patients with irritable bowel syndrome (IBS), inflammatory bowel disease (IBD), and chronic diarrhea, and found the subtypes in these diseases were similar (subtypes 2 and 3), and have also been found in asymptomatic carriers. The researchers concluded that host factors, such as age and genetics, may play the dominant role in determining the symptoms seen in the disease.[23] ### Associations[edit] Blastocystis colonisation is positively associated with IBS and is a possible risk factor for developing IBS.[1] A study of IBS patients in the Middle East showed a "significantly increased" immune reaction in IBS patients to Blastocystis, even when the organism could not be identified in stool samples.[24] The following reports have linked Blastocystis infection to inflammatory bowel disease: * A study using riboprinting identified specific types of Blastocystis as associated with inflammation.[25] * A case report described IBD in conjunction with Blastocystis infection.[18] * Three research groups have reported experimental infection of mice with Blastocystis produces intestinal inflammation.[26][27][28] ## Transmission and risk factors[edit] Humans contract Blastocystis infection by drinking water or eating food contaminated with feces from an infected human or animal.[29] Blastocystis infection can be spread from animals to humans, from humans to other humans, from humans to animals, and from animals to animals.[30][31] Risk factors for infection have been reported as following: * International travel: Travel to less developed countries has been cited in development of symptomatic Blastocystis infection.[32] A 1986 study in the United States found that all individuals symptomatically infected with Blastocystis reported recent travel history to less developed countries.[5] In the same study, all hospital employees working in New York who were screened for Blastocystis were found to have asymptomatic infections. * Military service: Several studies have identified high rates of infection in military personnel. An early account described infection of British troops in Egypt in 1916[33] who recovered following treatment with emetine. A 1990 study published in Military Medicine from Lackland AFB in Texas concluded symptomatic infection was more common in foreign nationals, children, and immunocompromised individuals.[34] A 2002 study published in Military Medicine of army personnel in Thailand identified a 44% infection rate. Infection rates were highest in privates who had served the longest at the army base.[35] A follow-up study found a significant correlation between infection and symptoms, and identified the most likely cause as contaminated water.[35] A 2007 newspaper article suggested the infection rate of US military personnel returning from the Gulf War was 50%, quoting the head of Oregon State University's Biomedicine department.[36] * Consumption of Untreated Water (well water): Many studies have linked Blastocystis infection with contaminated drinking water. A 1993 study of children infected symptomatically with Blastocystis in Pittsburgh indicated that 75% of them had a history of drinking well water or travel in less developed countries. Two studies in Thailand linked Blastocystis infection in military personnel and families to drinking of unboiled and untreated water.[35][37] A book published in 2006 noted that in an Oregon community, infections are more common in winter months during heavy rains.[38] A research study published in 1980 reported bacterial contamination of well water in the same community during heavy rainfall.[39] A 2007 study from China specifically linked infection with Blastocystis sp. subtype 3 with drinking untreated water.[40] Recreational contact with untreated water, for example though boating, has also been identified as a risk factor.[38] Studies have shown that Blastocystis survives sewage treatment plants in both the United Kingdom and Malaysia.[41] Blastocystis cysts have been shown to be resistant to chlorination as a treatment method[42] and are among the most resistant cysts to ozone treatment.[43] * Contaminated Food: Contamination of leafy vegetables has been implicated as a potential source for transmission of Blastocystis infection, as well as other gastrointestinal protozoa.[44] A Chinese study identified infection with Blastocystis sp. subtype 1 as specifically associated with eating foods grown in untreated water.[40] * Daycare facilities: A Canadian study identified an outbreak of Blastocystis associated with daycare attendance.[45] Prior studies have identified outbreaks of similar protozoal infections in daycares.[46] * Geography: Infection rates vary geographically, and variants which produce symptoms may be less common in industrialized countries. For example, a low incidence of Blastocystis infection has been reported in Japan.[47] A study of individuals infected with Blastocystis in Japan found that many (43%, 23/54) carried Blastocystis sp. subtype 2, which was found to produce no symptoms in 93% (21/23) of patients studied, in contrast to other variants which were less common but produced symptoms in 50% of Japanese individuals. Studies in urban areas of industrialized countries have found Blastocystis infection associated with a low incidence of symptoms.[48] In contrast, studies in developing countries generally show Blastocystis to be associated with symptoms.[4][49] In the United States, a higher incidence of Blastocystis infection has been reported in California and West Coast states.[50] * Prevalence over Time: A 1989 study of the prevalence of Blastocystis in the United States found an infection rate of 2.6% in samples submitted from all 48 states.[50] The study was part of the CDC's MMWR Report. A more recent study, in 2006, found an infection rate of 23% in samples submitted from all 48 states. However, the more recent study was performed by a private laboratory located in the Western US, and emphasized samples from Western states, which have previously been reported to have a higher infection rate.[50] Research studies have suggested the following items are not risk factors for contracting Blastocystis infection: * Consumption of municipal water near water plant (not a risk factor): One study showed that municipal water was free of Blastocystis, even when drawn from a polluted source. However, samples taken far away from the treatment plant showed cysts. The researchers suggested that aging pipes may permit intrusion of contaminated water into the distribution system.[51] * Human-to-Human transmission among adults (not a risk factor): Some research suggests that direct human-to-human transmission is less common even in households and between married partners. One study showed different members of the same household carried different subtypes of Blastocystis.[25] ## Pathogeneses[edit] Pathogenesis refers to the mechanism by which an organism causes disease. The following disease-causing mechanisms have been reported in studies of Blastocystis infection: * Barrier disruption: In isolates from Blastocystis sp. subtype 4, study has demonstrated that Blastocystis has the ability to alter the arrangement of F-actin in intestinal epithelial cells. Actin filaments are important in stabilizing tight junctions; they in turn stabilize the barrier, which is a layer of cells, between the intestinal epithelial cells and the intestinal content.[52] The parasite causes the actin filaments to rearrange, and so compromising barrier function. This has been suggested to contribute to the diarrheal symptoms sometimes observed in Blastocystis patients. * Invasiveness: Invasive infection has been reported in humans[17][53] and animal studies.[28] * Immune modulation: Blastocystis has been shown to provoke cells from the human colon to produce inflammatory cytokines interleukin-8 and GM-CSF.[54] Interleukin-8 plays a role in rheumatoid arthritis. * Protease secretion: Blastocystis secretes a protease that breaks up antibodies produced and secreted into the gastrointestinal tract lumen.[55] These antibodies, known as immunoglobulin A (IgA), make up the immune defense system of human by preventing the growth of harmful microorganisms in the body and by neutralizing toxins secreted by these microorganisms. By breaking up the antibodies, it allows the persistence of Blastocystis in the human gut. Another more recent study has also shown and proposed[further explanation needed] that, in response to the proteases secreted by Blastocystis, the intestinal host cells would signal a series of events to be carried out, eventually leading to the self-destruction of the host cells – a phenomenon known as apoptosis.[52] * Other secretory mechanism: A study of a different protozoan which produces similar symptoms, Entamoeba histolytica, found that organism secretes several neurologically active chemicals, such as serotonin and Substance P.[56][57] Serum levels of serotonin have been found to be elevated in patients with Entamoeba histolytica.[58] ## Diagnosis[edit] ### Clinically available[edit] Diagnosis is performed by determining if the infection is present, and then making a decision as to whether the infection is responsible for the symptoms. Diagnostic methods in clinical use have been reported to be of poor quality and more reliable methods have been reported in research papers.[30][59][60][61][62] Percentage of Blastocystis infections detected by direct microscopy in various studies For identification of infection, the only method clinically available in most areas is the ova and parasite (O&P) exam, which identifies the presence of the organism by microscopic examination of a chemically preserved stool specimen. This method is sometimes called direct microscopy. In the United States, pathologists are required to report the presence of Blastocystis when found during an O&P exam, so a special test does not have to be ordered. Direct microscopy is inexpensive, as the same test can identify a variety of gastrointestinal infections, such as Giardia, Entamoeba histolytica, and Cryptosporidium. However, one laboratory director noted that pathologists using conventional microscopes failed to identify many Blastocystis infections, and indicated the necessity for special microscopic equipment for identification.[9] The following table shows the sensitivity of Direct Microscopy in detecting Blastocystis when compared to stool culture, a more sensitive technique. Stool culture was considered by some researchers to be the most reliable technique, but a recent study found stool culture only detected 83% of individuals infected when compared to polymerase chain reaction (PCR) testing.[62] Reasons given for the failure of Direct Microscopy include: (1) Variable Shedding: The quantity of Blastocystis organisms varies substantially from day to day in infected humans and animals;[63] (2) Appearance: Some forms of Blastocystis resemble fat cells or white blood cells,[62] making it difficult to distinguish the organism from other cells in the stool sample; (3) Large number of morphological forms: Blastocystis cells can assume a variety of shapes, some have been described in detail only recently, so it is possible that additional forms exist but have not been identified.[62] Several methods have been cited in literature for determination of the significance of the finding of Blastocystis: 1. Diagnosis only when large numbers of organism present: Some physicians consider Blastocystis infection to be a cause of illness only when large numbers are found in stool samples.[64] Researchers have questioned this approach, noting that it is not used with any other protozoal infections, such as Giardia or Entamoeba histolytica. Some researchers have reported no correlation between number of organisms present in stool samples and the level of symptoms.[65] A study using polymerase chain reaction testing of stool samples suggested that symptomatic infection can exist even when sufficient quantities of the organism do not exist for identification through Direct Microscopy.[62] 2. Diagnosis-by-exclusion: Some physicians diagnose Blastocystis infection by excluding all other causes, such as infection with other organisms, food intolerances, colon cancer, etc. This method can be time-consuming and expensive, requiring many tests such as endoscopy and colonoscopy. 3. Disregarding Blastocystis : In the early to mid-1990s, some US physicians suggested all findings of Blastocystis are insignificant. No recent publications expressing this opinion could be found.[6][66] ### Not clinically available[edit] The following diagnostic methods are not routinely available to patients. Researchers have reported that they are more reliable at detecting infection, and in some cases can provide the physician with information to help determine whether Blastocystis infection is the cause of the patient's symptoms: Serum antibody testing: A 1993 research study performed by the NIH with United States patients suggested that it was possible to distinguish symptomatic and asymptomatic infection with Blastocystis using serum antibody testing.[67] The study used blood samples to measure the patient's immune reaction to chemicals present on the surface of the Blastocystis cell. It found that patients diagnosed with symptomatic Blastocystis infection exhibited a much higher immune response than controls who had Blastocystis infection but no symptoms. The study was repeated in 2003 at Ain Shams University in Egypt with Egyptian patients with equivalent results.[59] Fecal antibody testing: A 2003 study at Ain Shams University in Egypt indicated that patients symptomatically infected could be distinguished with a fecal antibody test.[59] The study compared patients diagnosed with symptomatic Blastocystis infection to controls who had Blastocystis infection but no symptoms. In the group with symptoms, IgA antibodies to Blastocystis were detected in fecal specimens that were not present in the healthy control group. Stool culture: Culturing has been shown to be a more reliable method of identifying infection. In 2006, researchers reported the ability to distinguish between disease causing and non-disease causing isolates of Blastocystis using stool culture.[68] Blastocystis cultured from patients who were sick and diagnosed with Blastocystis infection produced large, highly adhesive amoeboid forms in culture. These cells were absent in Blastocystis cultures from healthy controls. Subsequent genetic analysis showed the Blastocystis from healthy controls was genetically distinct from that found in patients with symptoms. Protozoal culture is unavailable in most countries due to the cost and lack of trained staff able to perform protozoal culture. Genetic analysis of isolates: Researchers have used techniques which allow the DNA of Blastocystis to be isolated from fecal specimens.[30][62] This method has been reported to be more reliable at detecting Blastocystis in symptomatic patients than stool culture.[62] This method also allows the species group of Blastocystis to be identified. Research is continuing into which species groups are associated with symptomatic (see Genetics and Symptoms) blastocystosis. Immuno-fluorescence (IFA) stain: An IFA stain causes Blastocystis cells to glow when viewed under a microscope, making the diagnostic method more reliable. IFA stains are in use for Giardia and Cryptosporidium for both diagnostic purposes and water quality testing. A 1991 paper from the NIH described the laboratory development of one such stain.[3] However, no company currently offers this stain commercially. ### Classification[edit] Reports conflict regarding whether Blastocystis causes disease in humans. These reports resulted in a brief debate in medical journals in the early 1990s between some physicians in the United States who believed that Blastocystis was harmless, and physicians in the United States and overseas who believed it could cause disease. At the time, it was common practice to identify all Blastocystis from humans as Blastocystis hominis, while Blastocystis from animals was identified differently (e.g. Blastocystis ratti from rats). Research performed since then has shown that the concept of Blastocystis hominis as a unique species of Blastocystis infecting humans is not supported by microbiological findings. Although one species group associated with primates was found, it was also discovered that humans can acquire infection from any one of nine species groups of Blastocystis which are also carried by cattle, pigs, rodents, chickens, pheasants, monkeys, dogs, and other animals.[30][31][69] Research has suggested that some types produce few or no symptoms, while others produce illness and intestinal inflammation.[68][20] Researchers have suggested conflicting reports may be due to the practice of naming all Blastocystis from humans Blastocystis hominis[31] and have proposed discontinuing the use of that term.[31] A standard naming system for Blastocystis organisms from humans and animals has been proposed which names Blastocystis isolates according to the genetic identity of the Blastocystis organism rather than the host.[31] The naming system used identifies all isolates as Blastocystis sp. subtype nn where nn is a number from 1 to 9 indicating the species group of the Blastocystis organism. The identification of the species can not be performed with a microscope at this time, because the different species look alike. Identification requires equipment for genetic analysis that is common in microbiology laboratories, but not available to most physicians. Some new scientific papers have begun using the standard naming system.[70] ## Treatment[edit] There is a lack of scientific study to support the efficacy of any particular treatment.[71] An additional review published in 2009 made a similar conclusion, noting that because the diagnostics in use have been unreliable, it has been impossible to determine whether a drug has eradicated the infection, or just made the patient feel better.[72] Historical reports, such as one from 1916, note difficulty associated with eradication of Blastocystis from patients, describing it as "an infection that is hard to get rid of."[2] A 1999 in vitro study from Pakistan found 40% of isolates are resistant to common antiprotozoal drugs.[73] A study of isolates from patients diagnosed with IBS found 40% of isolates resistant to metronidazole and 32% resistant to furazolidone.[74] Drugs reported in studies to be effective in eradicating Blastocystis infection have included metronidazole,[4][75] trimethoprim,[76] TMP-SMX (only trimethoprim is active with sulphamethoxazole demonstrating no activity),[75][76] tetracycline,[76] doxycycline, nitazoxanide,[77] pentamidine,[78] paromomycin[79] and iodoquinol.[80] Iodoquinol has been found to be less effective in practice than in-vitro.[81][82] Miconazole and quinacrine have been reported as effective agents against Blastocystis growth in-vitro.[76][83] Rifaximin,[84] and albendazole have shown promise as has ivermectin which demonstrated high effectiveness against blastocystis hominis isolates in an in vitro study.[85] There is also evidence that the probiotic yeast Saccharomyces boulardii,[79] and the plant mallotus oppositifolius[86] may be effective against Blastocystis infections. Physicians have described the successful use of a variety of discontinued antiprotozoals in treatment of Blastocystis infection. Emetine was reported as successful in cases in early 20th century with British soldiers who contracted Blastocystis infection while serving in Egypt.[2] In vitro testing showed emetine was more effective than metronidazole or furazolidone.[87] Emetine is available in the United States through special arrangement with the Center for Disease Control. Clioquinol (Entero-vioform) was noted as successful in treatment of Blastocystis infection but removed from the market following an adverse event in Japan.[3] Stovarsol and Narsenol, two arsenic-based antiprotozoals, were reported to be effective against the infection.[3] Carbarsone was available as an anti-infective compound in the United States as late as 1991, and was suggested as a possible treatment.[3] The reduction in the availability of antiprotozoal drugs has been noted as a complicating factor in treatment of other protozoal infections.[88] For example, in Australia, production of diloxanide furoate ended in 2003, paromomycin is available under special access provisions, and the availability of iodoquinol is limited.[89] ## Epidemiology[edit] Percentage of stool samples from US states found to contain various protozoa in 1987 and 2000[90] Number of stool samples from Canadian lab found to contain various protozoa in 2005[91] Like other protozoal infections, the prevalence of Blastocystis infection varies depending on the area investigated and the population selected. A number of different species groups of Blastocystis infect humans,[69] with some being reported to cause disease while others do not.[68][20] To date, surveys have not distinguished between different types of Blastocystis in humans, so the significance of findings may be difficult to evaluate. Developing countries have been reported to have higher incidences, but recent studies suggest that symptomatic infection with Blastocystis may be prevalent in certain industrialized countries, as well. * A study on parasites in stool samples in the United States during 2000 found blastocystosis to be the most common parasitic infection in the population, occurring in 23% of individuals.[90][92] * A Canadian study of samples received in 2005 identified Blastocystis as the most prevalent protozoal infection identified.[91] * A study in Pakistan identified Blastocystis infection in 7% of the general population and 46% of patients with irritable bowel syndrome. The study used stool culture for identification.[93] * A 2014 study of samples from 93 children from the Senegal River basin found that 100% of the population was infected with Blastocystis.[94][95] ## Other animals[edit] Experimental infection in immunocompetent and immunocompromised mice has produced intestinal inflammation, altered bowel habits, lethargy, and death.[26][27][28] Chronic diarrhea has been reported in non-human higher primates.[96] ## Research[edit] While many enteric protists are the subject of research, Blastocystis is unusual in that basic questions concerning how it should be diagnosed and treated and how it causes disease remain unsettled. The following groups have ongoing research programs directed at these questions: Country Organization Year Established Research focus Research Singapore National University of Singapore 1991 Co-culture, pathogenesis Tan Singh Malaysia University of Malaya 1996 Ultrastructure, pathogenicity Kumar United States Blastocystis Research Foundation 2006 Phylogenetics, pathogenicity, treatment Article[permanent dead link] Denmark Statens Serum Institut 2006 Diagnostics Stensvold CR ## See also[edit] * Blastocystis * List of parasites (human) * History of emerging infectious diseases ## References[edit] 1. ^ a b Rostami, A.; Riahi, SM.; Haghighi, A.; Saber, V.; Armon, B.; Seyyedtabaei, SJ. (Jul 2017). "The role of Blastocystis sp. and Dientamoeba fragilis in irritable bowel syndrome: a systematic review and meta-analysis". Parasitol Res. 116 (9): 2361–2371. doi:10.1007/s00436-017-5535-6. PMID 28668983. S2CID 32999514. 2. ^ a b c Low GC. (1916). 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PMID 15634993. 70. ^ Menounos PG, Spanakos G, Tegos N, Vassalos CM, Papadopoulou C, Vakalis NC (2007). "Direct detection of Blastocystis sp. in human faecal samples and subtype assignment using single strand conformational polymorphism and sequencing". Molecular and Cellular Probes. 22 (1): 24–9. doi:10.1016/j.mcp.2007.06.007. PMID 17669623. 71. ^ Boorom KF, Smith H, Nimri L, et al. (2008). "Oh my aching gut: irritable bowel syndrome, Blastocystis, and asymptomatic infection". Parasit Vectors. 1 (1): 40. doi:10.1186/1756-3305-1-40. PMC 2627840. PMID 18937874. 72. ^ Stensvold CR, Smith HV, Nagel R, Olsen KE, Traub RJ (October 2009). "Eradication of Blastocystis Carriage With Antimicrobials: Reality or Delusion?". J. Clin. Gastroenterol. 44 (2): 85–90. doi:10.1097/MCG.0b013e3181bb86ba. PMID 19834337. S2CID 30905124. 73. ^ Haresh K, Suresh K, Khairul Anus A, Saminathan S (1999). "Isolate resistance of Blastocystis hominis to metronidazole". Trop. Med. Int. Health. 4 (4): 274–7. doi:10.1046/j.1365-3156.1999.00398.x. PMID 10357863. S2CID 30426528. 74. ^ Yakoob J, Jafri W, Jafri N, Islam M, Asim Beg M (2004). "In vitro susceptibility of Blastocystis hominis isolated from patients with irritable bowel syndrome". Br. J. Biomed. Sci. 61 (2): 75–7. doi:10.1080/09674845.2004.11732647. PMID 15250669. S2CID 23238390. 75. ^ a b Moghaddam DD, Ghadirian E, Azami M (2005). "Blastocystis hominis and the evaluation of efficacy of metronidazole and trimethoprim/sulfamethoxazole". Parasitol. Res. 96 (4): 273–5. doi:10.1007/s00436-005-1363-1. PMID 15915364. S2CID 1744933. 76. ^ a b c d Vdovenko AA, Williams JE (2000). "Blastocystis hominis: neutral red supravital staining and its application to in vitro drug sensitivity testing". Parasitol. Res. 86 (7): 573–81. doi:10.1007/pl00008533. PMID 10935909. S2CID 6011590. 77. ^ Rossignol JF, Kabil SM, Said M, Samir H, Younis AM (2005). 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"The in-vitro activity of drugs against Blastocystis hominis". J. Antimicrob. Chemother. 27 (4): 507–16. doi:10.1093/jac/27.4.507. PMID 1856129. 83. ^ Gonçalves AQ, Viana Jda C, Pires EM, Bóia MN, Coura JR, Silva EF (2007). "The use of the antifungal agent miconazole as an inhibitor of Blastocystis hominis growth in Entamoeba histolytica/E. dispar cultures". Rev. Inst. Med. Trop. Sao Paulo. 49 (3): 201–2. doi:10.1590/S0036-46652007000300013. PMID 17625701. 84. ^ Boorom KF, Smith H, Nimri L, Viscogliosi E, Spanakos G, Parkar U, Li LH, Zhou XN, Ok UZ, Leelayoova S, Jones MS (2008). "Oh my aching gut: irritable bowel syndrome, Blastocystis, and asymptomatic infection". Parasit Vectors. 1 (1): 40. doi:10.1186/1756-3305-1-40. PMC 2627840. PMID 18937874. 85. ^ Roberts, T.; Bush, S.; Ellis, J.; Harkness, J.; Stark, D. (August 2015). "In Vitro Antimicrobial Susceptibility Patterns of Blastocystis". Antimicrob Agents Chemother. 59 (8): 4417–23. doi:10.1128/AAC.04832-14. PMC 4505275. PMID 25987633. 86. ^ Bremer Christensen, C.; Soelberg, J.; Stensvold, CR.; Jäger, AK. (March 2015). "Activity of medicinal plants from Ghana against the parasitic gut protist Blastocystis". J Ethnopharmacol. 174: 569–75. doi:10.1016/j.jep.2015.03.006. PMID 25773490. 87. ^ Zierdt CH, Swan JC, Hosseini J (1983). "In vitro response of Blastocystis hominis to antiprotozoal drugs". J. Protozool. 30 (2): 332–4. doi:10.1111/j.1550-7408.1983.tb02925.x. PMID 6631776. 88. ^ White AC (2000). "The disappearing arsenal of antiparasitic drugs". N. Engl. J. Med. 343 (17): 1273–4. doi:10.1056/NEJM200010263431718. PMID 11183360. 89. ^ van Hal SJ, Stark DJ, Fotedar R, Marriott D, Ellis JT, Harkness JL (2007). "Amoebiasis: current status in Australia". Med. J. Aust. 186 (8): 412–6. doi:10.5694/j.1326-5377.2007.tb00975.x. hdl:10453/4773. PMID 17437396. S2CID 4543632. 90. ^ a b Amin OM (2002). "Seasonal prevalence of intestinal parasites in the United States during 2000" (PDF). Am. J. Trop. Med. Hyg. 66 (6): 799–803. doi:10.4269/ajtmh.2002.66.799. PMID 12224595. Retrieved 3 January 2016. "Parasitologic investigations of large patient populations are rarely conducted in the United States, where the illusion of freedom from parasitic infections still predominates. Such investigations are considerably more common in third-world countries where endemic parasitoses are more readily documented.1 In an attempt to address this problem, we reported the results of routine examination of fecal specimens for parasites from 644 patients in the United States during the summer of 1996. ... Prevalence. Nine hundred sixteen (32%) of 2,896 tested patients were infected with 18 species of intestinal parasites in the year 2000 (Table 1) in 48 states and the District of Columbia as follows ... Blastocystis hominis was the most frequently detected parasite in single and multiple infections, with Cryptosporidium parvum and Entamoeba histolytica/E. dispar ranking second and third, respectively." 91. ^ a b Lagacé-Wiens PR, VanCaeseele PG, Koschik C (2006). "Dientamoeba fragilis: an emerging role in intestinal disease". Canadian Medical Association Journal. 175 (5): 468–9. doi:10.1503/cmaj.060265. PMC 1550747. PMID 16940260. 92. ^ Boorom KF, Smith H, Nimri L, Viscogliosi E, Spanakos G, Parkar U, Li LH, Zhou XN, Ok UZ, Leelayoova S, Jones MS (2008). "Oh my aching gut: irritable bowel syndrome, Blastocystis, and asymptomatic infection". Parasit Vectors. 1 (1): 40. doi:10.1186/1756-3305-1-40. PMC 2627840. PMID 18937874. "Blastocystis is now by far the most prevalent mono-infection in symptomatic patients in the United States [14] and was found 28.5 times more often than Giardia lamblia as a mono-infection in symptomatic patients in a 2000 study [14]. Figure 4: Prevalence of IBS and Blastocystosis by country" 93. ^ Yakoob J, Jafri W, Jafri N, et al. (2004). "Irritable bowel syndrome: in search of an etiology: role of Blastocystis hominis". Am. J. Trop. Med. Hyg. 70 (4): 383–5. CiteSeerX 10.1.1.484.928. doi:10.4269/ajtmh.2004.70.383. PMID 15100450. 94. ^ El Safadi D, Gaayeb L, Meloni D, Cian A, Poirier P, Wawrzyniak I, Delbac F, Dabboussi F, Delhaes L, Seck M, Hamze M, Riveau G, Viscogliosi E (March 2014). "Children of Senegal River Basin show the highest prevalence of Blastocystis sp. ever observed worldwide". BMC Infect. Dis. 14: 164. doi:10.1186/1471-2334-14-164. PMC 3987649. PMID 24666632. 95. ^ Roberts T, Stark D, Harkness J, Ellis J (May 2014). "Update on the pathogenic potential and treatment options for Blastocystis sp". Gut Pathog. 6: 17. doi:10.1186/1757-4749-6-17. PMC 4039988. PMID 24883113. "Blastocystis is one of the most common intestinal protists of humans. ... A recent study showed that 100% of people from low socio-economic villages in Senegal were infected with Blastocystis sp. suggesting that transmission was increased due to poor hygiene sanitation, close contact with domestic animals and livestock, and water supply directly from well and river [10]. ... Table 2: Summary of treatments and efficacy for Blastocystis infection" 96. ^ McClure HM, Strobert EA, Healy GR (1980). "Blastocystis hominis in a pig-tailed macaque: a potential enteric pathogen for nonhuman primates". Lab. Anim. Sci. 30 (5): 890–899. PMID 7191935. ## External links[edit] Classification D * ICD-9-CM: 007.8 * MeSH: D016776 * DiseasesDB: 33233 * SNOMED CT: 421204004 * CDC description of Blastocystis hominis * Badbugs.org: Dientamoeba fragilis and Blastocystis hominis resources * v * t * e Protozoan infection: SAR and Archaeplastida SAR Alveolate Apicomplexa Conoidasida/ Coccidia * Coccidia: Cryptosporidium hominis/Cryptosporidium parvum * Cryptosporidiosis * Cystoisospora belli * Isosporiasis * Cyclospora cayetanensis * Cyclosporiasis * Toxoplasma gondii * Toxoplasmosis Aconoidasida * Plasmodium falciparum/vivax/ovale/malariae/knowlesi * Malaria * Blackwater fever * Babesia * Babesiosis Ciliophora * Balantidium coli * Balantidiasis Heterokont * Blastocystis * Blastocystosis * Pythium insidiosum * Pythiosis Archaeplastida * Algaemia: Prototheca wickerhamii * Protothecosis * v * t * e Diseases of the digestive system Upper GI tract Esophagus * Esophagitis * Candidal * Eosinophilic * Herpetiform * Rupture * Boerhaave syndrome * Mallory–Weiss syndrome * UES * Zenker's diverticulum * LES * Barrett's esophagus * Esophageal motility disorder * Nutcracker esophagus * Achalasia * Diffuse esophageal spasm * Gastroesophageal reflux disease (GERD) * Laryngopharyngeal reflux (LPR) * Esophageal stricture * Megaesophagus * Esophageal intramural pseudodiverticulosis Stomach * Gastritis * Atrophic * Ménétrier's disease * Gastroenteritis * Peptic (gastric) ulcer * Cushing ulcer * Dieulafoy's lesion * Dyspepsia * Pyloric stenosis * Achlorhydria * Gastroparesis * Gastroptosis * Portal hypertensive gastropathy * Gastric antral vascular ectasia * Gastric dumping syndrome * Gastric volvulus * Buried bumper syndrome * Gastrinoma * Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine (Duodenum/Jejunum/Ileum) * Enteritis * Duodenitis * Jejunitis * Ileitis * Peptic (duodenal) ulcer * Curling's ulcer * Malabsorption: Coeliac * Tropical sprue * Blind loop syndrome * Small bowel bacterial overgrowth syndrome * Whipple's * Short bowel syndrome * Steatorrhea * Milroy disease * Bile acid malabsorption Large intestine (Appendix/Colon) * Appendicitis * Colitis * Pseudomembranous * Ulcerative * Ischemic * Microscopic * Collagenous * Lymphocytic * Functional colonic disease * IBS * Intestinal pseudoobstruction / Ogilvie syndrome * Megacolon / Toxic megacolon * Diverticulitis/Diverticulosis/SCAD Large and/or small * Enterocolitis * Necrotizing * Gastroenterocolitis * IBD * Crohn's disease * Vascular: Abdominal angina * Mesenteric ischemia * Angiodysplasia * Bowel obstruction: Ileus * Intussusception * Volvulus * Fecal impaction * Constipation * Diarrhea * Infectious * Intestinal adhesions Rectum * Proctitis * Radiation proctitis * Proctalgia fugax * Rectal prolapse * Anismus Anal canal * Anal fissure/Anal fistula * Anal abscess * Hemorrhoid * Anal dysplasia * Pruritus ani GI bleeding * Blood in stool * Upper * Hematemesis * Melena * Lower * Hematochezia Accessory Liver * Hepatitis * Viral hepatitis * Autoimmune hepatitis * Alcoholic hepatitis * Cirrhosis * PBC * Fatty liver * NASH * Vascular * Budd–Chiari syndrome * Hepatic veno-occlusive disease * Portal hypertension * Nutmeg liver * Alcoholic liver disease * Liver failure * Hepatic encephalopathy * Acute liver failure * Liver abscess * Pyogenic * Amoebic * Hepatorenal syndrome * Peliosis hepatis * Metabolic disorders * Wilson's disease * Hemochromatosis Gallbladder * Cholecystitis * Gallstone / Cholelithiasis * Cholesterolosis * Adenomyomatosis * Postcholecystectomy syndrome * Porcelain gallbladder Bile duct/ Other biliary tree * Cholangitis * Primary sclerosing cholangitis * Secondary sclerosing cholangitis * Ascending * Cholestasis/Mirizzi's syndrome * Biliary fistula * Haemobilia * Common bile duct * Choledocholithiasis * Biliary dyskinesia * Sphincter of Oddi dysfunction Pancreatic * Pancreatitis * Acute * Chronic * Hereditary * Pancreatic abscess * Pancreatic pseudocyst * Exocrine pancreatic insufficiency * Pancreatic fistula Other Hernia * Diaphragmatic * Congenital * Hiatus * Inguinal * Indirect * Direct * Umbilical * Femoral * Obturator * Spigelian * Lumbar * Petit's * Grynfeltt-Lesshaft * Undefined location * Incisional * Internal hernia * Richter's Peritoneal * Peritonitis * Spontaneous bacterial peritonitis * Hemoperitoneum * Pneumoperitoneum [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Blastocystosis	c0085313	30,489	wikipedia	https://en.wikipedia.org/wiki/Blastocystosis	2021-01-18T18:44:35	{"mesh": ["D016776"], "icd-9": ["007.8"], "wikidata": ["Q4925474"]}
Disease Universal angiomatosis (also known as "Generalized telangiectasia") is a bleeding disease that affects the blood vessels of the skin and mucous membranes as well as other parts of the body.[1] ## See also[edit] * List of cutaneous conditions ## References[edit] 1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 169. ISBN 0-7216-2921-0. This Dermal and subcutaneous growths article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Universal angiomatosis	c0473555	30,490	wikipedia	https://en.wikipedia.org/wiki/Universal_angiomatosis	2021-01-18T18:53:43	{"mesh": ["C562998"], "umls": ["C0473555"], "wikidata": ["Q7894105"]}
## Summary ### Clinical characteristics. Clinical features of achondrogenesis type 1B (ACG1B) include extremely short limbs with short fingers and toes, hypoplasia of the thorax, protuberant abdomen, and hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton. The face is flat, the neck is short, and the soft tissue of the neck may be thickened. Death occurs prenatally or shortly after birth. ### Diagnosis/testing. The diagnosis of ACG1B rests on a combination of clinical, radiologic, and histopathologic features. SLC26A2 (DTDST) is the only gene in which mutation is known to cause ACG1B. ### Management. Treatment of manifestations: Palliative care for liveborn neonates. ### Genetic counseling. ACG1B is inherited in an autosomal recessive manner. At conception, each sib of a proband with ACG1B has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if both pathogenic alleles in the family are known and the carrier status of the parents has been confirmed. Ultrasound examination after 14-15 weeks’ gestation can be diagnostic. ## Diagnosis ### Clinical Diagnosis Achondrogenesis type 1B (ACG1B) is a perinatal lethal disorder with death occurring prenatally or shortly after birth. The diagnosis is usually established with the following: Clinical features * Extremely short limbs with short fingers and toes * Hypoplasia of the thorax * Protuberant abdomen * Hydropic fetal appearance caused by the abundance of soft tissue relative to the short skeleton * Flat face * Short neck * Thickened soft tissue of the neck Radiographic findings. While the degree of ossification generally depends on gestational age, variability can be observed between radiographs taken at similar gestational ages; thus, no single feature should be considered obligatory: * Disproportion between the nearly normal-sized skull and very short body length. The skull may have a normal appearance or be mildly abnormal (reduced ossification for age; lateral or superior extension of the orbits; micrognathia). * Total lack of ossification of the vertebral bodies or only rudimentary calcification of the center. The vertebral lateral pedicles are usually ossified. * Short and slightly thin (but usually not fractured) ribs * Iliac bone ossification limited to the upper part, giving a crescent-shaped, "paraglider-like" appearance on x-ray. The ischium is usually not ossified. * Shortening of the tubular bones such that no major axis can be recognized. Metaphyseal spurring gives the appearance of a "thorn apple" or (for hematologic experts) "acanthocyte." The phalanges are poorly ossified and therefore are only rarely identified on x-ray. * Only mildly abnormal clavicles (somewhat shortened but normally shaped and ossified) and scapulae (small with irregular contours) [Superti-Furga 1996] ### Testing Histopathologic testing. In ACG1B, the histology of the cartilage shows a rarified cartilage matrix partially replaced by a larger number of cells. After hematoxylin-eosin staining, the matrix appears non-homogeneous with coarse collagen fibers. The fibers are denser around the chondrocytes, where they can form "collagen rings." After staining with cationic dyes (toluidine blue, alcian blue), which bind to the abundant polyanionic sulfated proteoglycans, normal cartilage matrix appears as a homogeneous deep blue or violet; in ACG1B, cartilage staining with these dyes is much less intense because of the defective sulfation of the proteoglycans. Biochemical testing. The incorporation of sulfate into macromolecules can be studied in cultured chondrocytes and/or skin fibroblasts through double labeling with 3H-glycine and 35S-sodium sulfate. After incubation with these compounds and purification, the electrophoretic analysis of medium proteoglycans reveals a lack of sulfate incorporation [Superti-Furga 1994] which can be observed even in total macromolecules. The determination of sulfate uptake is possible but cumbersome and is not used for diagnostic purposes [Superti-Furga et al 1996b]. #### Molecular Genetic Testing Gene. SLC26A2 (known previously as DTDST) is the only gene in which mutation is known to cause ACG1B [Superti-Furga et al 1996b]. ### Table 1. Molecular Genetic Testing Used in Achondrogenesis Type 1B View in own window Gene 1MethodPathogenic Variants Detected 2Variant Detection Frequency by Method 3 SLC26A2Targeted analysis for pathogenic variantsPanel of selected variants 4See footnote 5 Sequence analysis 6Sequence variants>90% 7 Deletion/duplication analysis 8(Multi)exon and whole-gene deletion/duplicationUnknown, none reported 1\. See Table A. Genes and Databases for chromosome locus and protein. 2\. See Molecular Genetics for information on allelic variants. 3\. % of disease alleles detected in individuals with typical clinical, radiologic, and histologic features of ACG1B 4\. Variant panel may vary by laboratory. 5\. Dependent on variant panel and population tested. The four most common SLC26A2 pathogenic variants (p.Arg279Trp, c.-26+2T>C (IVS1+2T>C), p.Arg178Ter, and p.Cys653Ser) account for approximately 70% of disease alleles in all SLC26A2-related dysplasias, but only 10% of disease alleles in ACG1B. 6\. Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here. 7\. 90% of alleles in individuals with radiologic and histologic features compatible with the diagnosis of sulfate transporter-related dysplasias [Rossi & Superti-Furga 2001] 8\. Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment. ### Testing Strategy To confirm/establish the diagnosis in a proband * The diagnosis is first suspected on the basis of clinical and radiologic findings. Note: It is often difficult to distinguish between the three different forms of achondrogenesis: ACG1A, ACG1B, and ACG2 (see Differential Diagnosis). * Histopathology of cartilage is recommended as the second diagnostic step. * Molecular genetic testing is the preferred diagnostic test in probands with a clinical, radiologic, and/or histopathologic diagnosis of ACG1B: it allows precise diagnosis in the great majority of cases: * Although targeted analysis for pathogenic variants is available, recurrent pathogenic variants are found in only a small number of individuals with ACG1B; therefore, sequence analysis of the entire coding region may be considered a first-line molecular genetic test. * Parental DNA analysis for the pathogenic variants found in the proband is recommended to confirm segregation of the two alleles in both compound heterozygous and homozygous individuals. Note: A biochemical test is usually not needed before molecular genetic testing. Carrier testing for at-risk relatives requires prior identification of the pathogenic variants in the family. Note: Carriers are heterozygotes for this autosomal recessive disorder and are not at risk of developing the disorder. Prenatal diagnosis and preimplantation genetic diagnosis (PGD) for at-risk pregnancies require prior identification of the pathogenic variants in the family. ## Clinical Characteristics ### Clinical Description Achondrogenesis type 1B (ACG1B), one of the most severe chondrodysplasias, is a perinatal lethal disorder with death occurring prenatally or shortly after birth. The mechanism of the prenatal death is unknown. In the viable newborn, death is secondary to respiratory failure and occurs shortly after birth. Fetuses with ACG1B often present in breech position. Pregnancy complications as a result of polyhydramnios may occur. Clinical features of ACG1B include extremely shortened limbs, inturning of the feet and toes (talipes equinovarus), and brachydactyly (short stubby fingers and toes). The thorax is narrow and the abdomen protuberant. Frequently, umbilical or inguinal herniae are present. ### Genotype-Phenotype Correlations Genotype-phenotype correlations indicate that the amount of residual activity of the sulfate transporter modulates the phenotype in this spectrum of disorders that extends from lethal ACG1B to mild recessive multiple epiphyseal dysplasia (EDM4). Homozygosity or compound heterozygosity for pathogenic variants predicting stop codons or structural variants in transmembrane domains of the sulfate transporter are associated with ACG1B, while pathogenic variants located in extracellular loops, in the cytoplasmic tail of the protein, or in the regulatory 5'-flanking region of the gene result in less severe phenotypes [Superti-Furga et al 1996c, Karniski 2001]. Variant p.Arg279Trp is the most common SLC26A2 pathogenic variant outside Finland (45% of alleles); it results in the mild EDM4 phenotype when homozygous and mostly in the diastrophic dysplasia (DTD) and atelosteogenesis type 2 (AO2) phenotypes when in the compound heterozygous state. Variant p.Arg178Ter is the second-most common pathogenic variant (9% of alleles) and is associated with a more severe DTD phenotype or even the perinatal-lethal AO2 phenotype, particularly when combined in trans with the p.Arg279Trp pathogenic variant. This variant has also been found in some cases of more severe recessive multiple epiphyseal dysplasia (rMED) and of ACG1B, making it one of two pathogenic variants identified in all four SLC26A2-related dysplasias. Variants p.Cys653Ser and c.-26+2T>C are the third most common pathogenic variants (8% of alleles for each). Variant p.Cys653Ser results in EDM4/rMED when homozygous and in EDM4/rMED or DTD when present in trans with other pathogenic variants. Variant c.-26+2T>C is sometimes referred to as the "Finnish" variant, because it is much more frequent in Finland than in the remainder of the world population. It produces low levels of correctly spliced mRNA and results in DTD when homozygous. c.-26+2T>C is the only other pathogenic variant that has been identified in all four SLC26A2-related dysplasias, in compound heterozygosity with mild (rMED and DTD) or severe (AO2 and ACG1B) alleles [Bonafé, unpublished results; Dwyer et al 2010]. The same pathogenic variants found in the ACG1B phenotype can also be found in the milder phenotypes (AO2 and DTD) if the second allele is a relatively mild pathogenic variant. Indeed, missense variants located outside the transmembrane domain of the sulfate transporter are often associated with a residual activity that can "rescue" the effect of a null allele [Rossi & Superti-Furga 2001]. ### Penetrance For pathogenic variants in SLC26A2, penetrance is complete. ### Nomenclature The term achondrogenesis (Greek for "not producing cartilage") was given by the pathologist Marco Fraccaro in 1952 to the condition observed in a stillborn with severe micromelia and marked histologic changes in cartilage. In 1939, Hans Grebe attributed the same name to the condition observed in two sisters with markedly short limbs and digits but normal trunk; this condition, although superficially similar to Fraccaro's achondrogenesis, became later known as Grebe chondrodysplasia or Grebe syndrome. Subsequently, the name achondrogenesis was used to characterize the most severe forms of human chondrodysplasia, invariably lethal before or shortly after birth. In the 1970s, the heterogeneity of achondrogenesis was recognized. Using a combination of radiologic and histologic criteria, achondrogenesis type I (also called Fraccaro-Houston-Harris type) and type II (called Langer-Saldino type) were distinguished. In the 1980s, a new classification of achondrogenesis (types I to IV) based on radiologic criteria was proposed; the classification did not prove helpful and was later abandoned. In the late 1980s it was shown that achondrogenesis type II was caused by mutation of the gene encoding collagen II. Borochowitz et al [1988] provided convincing histologic criteria for the further subdivision of achondrogenesis type I into types IA and IB, which is still very useful for the differential diagnosis: * ACG1A corresponds to the former eponym Houston-Harris type, and is caused by mutation of TRIP11 [Smits et al 2010]. * ACG1B corresponds to the Fraccaro type. The confirmation of ACG1B as a separate entity came with the demonstration of sulfate transporter pathogenic variants in this histologic type. * ACG2 corresponds to the Langer-Saldino type. ACG1B is currently classified in the "sulfation disorders group" in the revised Nosology and Classification of Genetic Skeletal Disorders [Warman et al 2011]. ### Prevalence No data on the prevalence of ACG1B are available. ## Differential Diagnosis Achondrogenesis type 1B (ACG1B) should be distinguished from other lethal chondrodysplasias. As this is a large group of disorders, differentiation may be problematic. Making the correct diagnosis in fetuses with severe short-limbed chondrodysplasia by clinical and ultrasonographic findings alone is difficult. It is therefore important to obtain good radiographs, tissue for DNA extraction, skin biopsy for fibroblast culture, and bone and cartilage tissues for histology and biochemistry. The combination of radiologic and histologic findings gives a provisional diagnosis, which can then be confirmed by selected biochemical and/or molecular genetic investigations [Unger et al 2001]. Achondrogenesis is subtyped according to radiologic and histopathologic characteristics [Borochowitz et al 1988, Superti-Furga et al 2001]: * Achondrogenesis type 1A (ACG1A; Houston-Harris type) * ACG1B (Fraccaro type) * Achondrogenesis type 2 (ACG2; Langer-Saldino type) Within the achondrogenesis group, clinical and radiologic distinction between ACG1A, ACG1B, and ACG2 is not always possible. The presence of rib fractures and the absence of ossification of vertebral pedicles may suggest ACG1A. The hands and fingers are markedly shortened in ACG1B and less so in ACG1A; they can be almost normal in ACG2. ACG2 shows more severe underossification of the vertebral bodies compared to ACG1B, in addition to quite typical configuration of the iliac bones with concave medial and inferior borders, and nonossification of the ischial and pubic bones. Histology of the cartilage is very useful in distinguishing the three different forms of achondrogenesis: * ACG1A. The cartilage matrix is normal and inclusions are present in the chondrocytes. * ACG1B. The matrix is clearly abnormal (presence of "demasked," coarse collagen fibers, sometimes giving a wavy, sponge-like appearance) and has abnormal staining properties because of the reduced proteoglycans. * ACG2. The cartilage is hypervascular and hypercellular with reduced matrix and vacuoles ("Swiss cheese-like"), but has roughly normal staining properties. Features observed on histologic examination after staining with cationic dyes distinguish ACG1B from ACG1A, in which the matrix appears close to normal and chondrocytes show intracytoplasmic inclusions, and from ACG2, in which the matrix is rarified and vacuolated but stains normally and there are no "collagen rings." ACG2 also has inclusions. See Achondrogenesis: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM. Other osteochondrodysplasias that are often in the differential diagnosis of ACG1B: * Osteogenesis imperfecta types 2 and 3. Typical signs are soft undermineralized skull and blue sclerae; the bones are bowed but not as short as in achondrogenesis. Multiple fractures are present. * Thanatophoric dysplasia. The limbs are longer than in ACG and the thorax is narrow but elongated. In thanatophoric dysplasia type II, cloverleaf skull is common. * Short rib-polydactyly syndromes. Polydactyly is usually present; when absent, the short rib-polydactyly syndromes may be confused with thanatophoric dysplasia. * Roberts syndrome. Severe limb shortening with only mildly affected axial skeleton may suggest Roberts syndrome. In Roberts syndrome standard cytogenetic preparations stained with Giemsa or C-banding techniques show in most chromosomes during metaphase the characteristic chromosomal abnormality of premature centromere separation (PCS) and separation of the heterochromatic regions [also called heterochromatin repulsion (HR)]. Mutation of ESCO2 is causative. * Fibrochondrogenesis. Distinguishing radiographic features of fibrochondrogenesis are marked metaphyseal flaring of the long bones and clefts of the vertebral bodies. ## Management ### Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with achondrogenesis type 1B (ACG1B), the following evaluations are recommended: * Complete skeletal survey * Respiratory status * Consultation with a clinical geneticist and/or genetic counselor ### Treatment of Manifestations Provide palliative care for viable newborns. ### Evaluation of Relatives at Risk See Related Genetic Counseling Issues for issues related to testing of at-risk relatives for genetic counseling purposes. ### Therapies Under Investigation Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Achondrogenesis Type 1B	c0265274	30,491	gene_reviews	https://www.ncbi.nlm.nih.gov/books/NBK1516/	2021-01-18T21:44:04	{"mesh": ["C536016"], "synonyms": ["ACG1B"]}
Laminopathy Normal nuclear lamina (a and b) and mutant nuclear lamina (c and d) from a patient with HGPS, visualized by immunofluorescence - note the irregular and bumpy shape of the laminopathic nuclei[1] SpecialtyClinical Genetics SymptomsMuscle weakness, reduced sensation, shortness of breath, syncope ComplicationsDiabetes, heart failure, arrhythmias Usual onsetVariable DurationLifelong CausesGenetic Diagnostic methodClinical, genetic testing TreatmentPhysiotherapy, orthopaedic surgery, pacemaker, implantable defibrillator MedicationACE inhibitor, beta blocker, aldosterone antagonist PrognosisVariable Laminopathies (lamino- \+ -opathy) are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. They are included in the more generic term nuclear envelopathies that was coined in 2000 for diseases associated with defects of the nuclear envelope.[2] Since the first reports of laminopathies in the late 1990s, increased research efforts have started to uncover the vital role of nuclear envelope proteins in cell and tissue integrity in animals. ## Contents * 1 Symptoms * 2 Genetics * 3 Molecular mechanism * 3.1 Nonsense and missense mutations * 3.2 Point mutations * 3.3 Splicing defects * 3.4 Processing defects * 3.5 Gene dosage effects * 3.6 Autoimmune antibodies * 3.7 DNA repair * 4 Diagnosis * 4.1 Types of known laminopathies and other nuclear envelopathies * 5 Treatment * 6 Research * 7 References * 8 External links ## Symptoms[edit] Laminopathies and other nuclear envelopathies have a large variety of clinical symptoms including skeletal and/or cardiac muscular dystrophy, lipodystrophy and diabetes, dysplasia, dermo- or neuropathy, leukodystrophy, and progeria (premature aging). Most of these symptoms develop after birth, typically during childhood or adolescence. Some laminopathies however may lead to an early death, and mutations of lamin B1 (LMNB1 gene) may be lethal before or at birth.[3] ## Genetics[edit] Patients with classical laminopathy have mutations in the gene coding for lamin A/C (LMNA gene).[citation needed] Mutations in the gene coding for lamin B2 (LMNB2 gene) have been linked to Barraquer-Simons syndrome[4] and duplication in the gene coding for lamin B1 (LMNB1 gene) cause autosomal dominant leukodystrophy.[5] Mutations implicated in other nuclear envelopathies were found in genes coding for lamin-binding proteins such as lamin B receptor (LBR gene), emerin (EMD gene) and LEM domain-containing protein 3 (LEMD3 gene) and prelamin A-processing enzymes such as the zinc metalloproteinase STE24 (ZMPSTE24 gene). Mutations causing laminopathies include recessive as well as dominant alleles with rare de novo mutations creating dominant alleles that do not allow their carriers to reproduce before death.[citation needed] The nuclear envelopathy with the highest frequency in human populations is Emery–Dreifuss muscular dystrophy caused by an X-linked mutation in the EMD gene coding for emerin and affecting an estimated 1 in 100,000 people.[citation needed] ## Molecular mechanism[edit] Lamins are intermediate filament proteins that form the nuclear lamina scaffold underneath the nuclear envelope in animal cells. They are attached to the nuclear envelope membrane via farnesyl anchors and interaction with inner nuclear membrane proteins such as lamin B receptor and emerin. The nuclear lamina appears to be an adaptation to mobility in animals as sessile organisms such as plants or fungi do not have lamins[6] and the symptoms of many laminopathies include muscle defects. Mutations in these genes might lead to defects in filament assembly and/or attachment to the nuclear envelope and thus jeopardize nuclear envelope stability in physically stressed tissues such as muscle fibers, bone, skin and connective tissue.[7] Messenger RNA produced from the LMNA gene undergoes alternative splicing and is translated into lamins A and C. Lamin A undergoes farnesylation to attach a membrane anchor to the protein. This version of the protein is also referred to as prelamin A. Farnesylated prelamin A is further processed into mature lamin A by a metalloproteinase removing the last 15 amino acids and its farnesylated cysteine. This allows lamin A to dissociate from the nuclear envelope membrane and fulfill nuclear functions. Mutations causing laminopathies interfere with these processes on different levels.[citation needed] ### Nonsense and missense mutations[edit] Missense mutations in the lamin A/C rod and tail domains are the cause for a wide array of genetic disorders, suggesting that lamin A/C protein contains distinct functional domains that are essential for the maintenance and integrity of different cell lineages. Interaction between lamin A and the nuclear envelope protein emerin appears to be crucial in muscle cells, with certain mutations in lamin mimicking mutations in emerin and causing Emery–Dreifuss muscular dystrophy. Different mutations lead to dominant-negative and recessive alleles. Mutations in the lamin rod domain leading to mislocalization of both lamin A and emerin occur in patients with autosomal dominant forms of muscular dystrophy and cardiomyopathy.[citation needed] Most lamin B mutations appear to be lethal with mutations in lamin B1 causing death at birth in mice.[3] In 2006, lamin B2 missense mutations were identified in patients with acquired partial lipodystrophy.[8] ### Point mutations[edit] The most common mutation in the lamin A/C is the homozygous Arg527His (arginine replaced by histidine at position 527) substitution in exon 9 of the LMNA gene[9] Other known mutations are Ala529Val and Arg527His/Val440Met.[10] Additionally, some mutations such as Arg527Cys, Lys542Asn, Arg471Cys, Thr528Met/Met540Thr, and Arg471Cys/Arg527Cys, Arg527Leu result in mandibuloacral dysplasia with progeria-like features.[11] ### Splicing defects[edit] Mutations causing progeria are defective in splicing LMNA mRNA, therefore producing abnormal lamin A protein, also known as progerin. The mutations activate a cryptic splice site within exon 11 of the gene, thereby causing the deletion of the processing site on prelamin A.[12] This results in an accumulation of progerin that is unable to mature into lamin A, leading to misshapen nuclei. Missplicing also leads to the complete or partial loss of exon 11 and results in a truncated prelamin A protein in the neonatal lethal tight skin contracture syndrome.[13] ### Processing defects[edit] Since the metalloproteinase STE24 is required to process prelamin A into mature lamin A, mutations in this gene abolishing protease activity cause defects similar to laminopathies caused by prelamin A with truncated processing sites. Symptoms in patients with ZMPSTE24 mutation range from mandibuloacral dysplasia, progeroid appearance, and generalized lipodystrophy to infant-lethal restrictive dermopathy.[citation needed] ### Gene dosage effects[edit] In the case of autosomal dominant leukodystrophy, the disease is associated with a duplication of the lamin B gene LMNB1. The exact dosage of lamin B in cells appears to be crucial for nuclear integrity as increased expression of lamin B causes a degenerative phenotype in fruit flies and leads to abnormal nuclear morphology.[14] ### Autoimmune antibodies[edit] Antibodies against lamins are detected in the sera of some individuals with autoimmune diseases.[15] ### DNA repair[edit] A-type lamins promote genetic stability by maintaining the levels of proteins that have key roles in DNA double-strand break repair during the processes of non-homologous end joining and homologous recombination.[16] Mutations in lamin A (LMNA) cause Hutchinson–Gilford progeria syndrome, a dramatic form of premature aging.[12] Mouse cells deficient for maturation of prelamin A show increased DNA damage and chromosome aberrations and are more sensitive to DNA damaging agents.[17] The inability to adequately repair DNA damages when A-type lamins are defective is likely responsible for some of the aspects of premature aging.[citation needed] ## Diagnosis[edit] ### Types of known laminopathies and other nuclear envelopathies[edit] Syndrome OMIM ID Symptoms Mutation in Identified in Atypical Werner syndrome 277700 Progeria with increased severity compared to normal Werner syndrome Lamin A/C 2003[18] Barraquer–Simons syndrome 608709 Lipodystrophy Lamin B2 2006[8] Buschke–Ollendorff syndrome 166700 Skeletal dysplasia, skin lesions LEM domain containing protein 3 (lamin-binding protein) 2004[19] Cardiomyopathy, dilated, with quadriceps myopathy 607920 Cardiomyopathy Lamin A/C 2003[21] Charcot–Marie–Tooth disease, axonal, type 2B1 605588 Neuropathy Lamin A/C 2002[22] Emery–Dreifuss muscular dystrophy, X-linked (EDMD) 310300 Skeletal and cardiac muscular dystrophy Emerin (lamin-binding protein) 1996,[23] 2000[24] Emery–Dreifuss muscular dystrophy, autosomal dominant (EDMD2) 181350 Skeletal and cardiac muscular dystrophy Lamin A/C 1999[25] Emery–Dreifuss muscular dystrophy, autosomal recessive (EDMD3) 604929 Skeletal and cardiac muscular dystrophy Lamin A/C 2000[26] Familial partial lipodystrophy of the Dunnigan type (FPLD) 151660 Lipoatrophic diabetes Lamin A/C 2002[27] Greenberg dysplasia 215140 Skeletal dysplasia Lamin B receptor 2003[28] Hutchinson–Gilford progeria syndrome (HGPS) 176670 Progeria Lamin A/C 2003[12] Leukodystrophy, demyelinating, adult-onset, autosomal dominant (ADLD) 169500 Progressive demyelinating disorder affecting the central nervous system Lamin B1 (tandem gene duplication) 2006[14] Limb-girdle muscular dystrophy type 1B (LGMD1B) 159001 Muscular dystrophy of hips and shoulders, cardiomyopathy Lamin A/C 2000[29] Lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules (LDHCP) 608056 Lipoatrophic diabetes, fatty liver, hypertrophic cardiomyopathy, skin lesions Lamin A/C 2003[30] Mandibuloacral dysplasia with type A lipodystrophy (MADA) 248370 Dysplasia and lipodystrophy Lamin A/C 2002[9] Mandibuloacral dysplasia with type B lipodystrophy (MADB) 608612 Dysplasia and lipodystrophy Zinc metalloprotease STE24 (prelamin-processing enzyme) 2003[31] Pelger–Huet anomaly (PHA) 169400 Myelodysplasia Lamin B receptor 2002[32] Restrictive dermopathy, lethal 275210 Dermopathy Lamin A/C or Zinc metalloprotease STE24 (prelamin-processing enzyme) 2004[13] ## Treatment[edit] Currently, there is no cure for laminopathies and treatment is largely symptomatic and supportive. Physical therapy and/or corrective orthopedic surgery may be helpful for patients with muscular dystrophies. Laminopathies affecting heart muscle may cause heart failure requiring treatment with medications including ACE inhibitors, beta blockers and aldosterone antagonists, while the abnormal heart rhythms that frequently occur in these patients may require a pacemaker or implantable defibrillator.[33] Treatment for neuropathies may include medication for seizures and spasticity.[citation needed] ## Research[edit] The recent progress in uncovering the molecular mechanisms of toxic progerin formation in laminopathies leading to premature aging has opened up the potential for the development of targeted treatment. The farnesylation of prelamin A and its pathological form progerin is carried out by the enzyme farnesyl transferase. Farnesyl transferase inhibitors (FTIs) can be used effectively to reduce symptoms in two mouse model systems for progeria and to revert the abnormal nuclear morphology in progeroid cell cultures. Two oral FTIs, lonafarnib and tipifarnib, are already in use as anti-tumor medication in humans and may become avenues of treatment for children suffering from laminopathic progeria. Nitrogen-containing bisphosphate drugs used in the treatment of osteoporosis reduce farnesyldiphosphate production and thus prelamin A farnesylation. Testing of these drugs may prove them to be useful in treating progeria as well. The use of antisense oligonucleotides to inhibit progerin synthesis in affected cells is another avenue of current research into the development of anti-progerin drugs.[34][35] ## References[edit] 1. ^ Paradisi M, McClintock D, Boguslavsky RL, Pedicelli C, Worman HJ, Djabali K (2005). 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PMID 16942914. ## External links[edit] Classification D External resources * Orphanet: 98301 * * v * t * e Cytoskeletal defects Microfilaments Myofilament Actin * Hypertrophic cardiomyopathy 11 * Dilated cardiomyopathy 1AA * DFNA20 * Nemaline myopathy 3 Myosin * Elejalde syndrome * Hypertrophic cardiomyopathy 1, 8, 10 * Usher syndrome 1B * Freeman–Sheldon syndrome * DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 * May–Hegglin anomaly Troponin * Hypertrophic cardiomyopathy 7, 2 * Nemaline myopathy 4, 5 Tropomyosin * Hypertrophic cardiomyopathy 3 * Nemaline myopathy 1 Titin * Hypertrophic cardiomyopathy 9 Other * Fibrillin * Marfan syndrome * Weill–Marchesani syndrome * Filamin * FG syndrome 2 * Boomerang dysplasia * Larsen syndrome * Terminal osseous dysplasia with pigmentary defects IF 1/2 * Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 * Striate palmoplantar keratoderma 3 * Epidermolytic hyperkeratosis * IHCM * KRT2E (Ichthyosis bullosa of Siemens) * KRT3 (Meesmann juvenile epithelial corneal dystrophy) * KRT4 (White sponge nevus) * KRT5 (Epidermolysis bullosa simplex) * KRT8 (Familial cirrhosis) * KRT10 (Epidermolytic hyperkeratosis) * KRT12 (Meesmann juvenile epithelial corneal dystrophy) * KRT13 (White sponge nevus) * KRT14 (Epidermolysis bullosa simplex) * KRT17 (Steatocystoma multiplex) * KRT18 (Familial cirrhosis) * KRT81/KRT83/KRT86 (Monilethrix) * Naegeli–Franceschetti–Jadassohn syndrome * Reticular pigmented anomaly of the flexures 3 * Desmin: Desmin-related myofibrillar myopathy * Dilated cardiomyopathy 1I * GFAP: Alexander disease * Peripherin: Amyotrophic lateral sclerosis 4 * Neurofilament: Parkinson's disease * Charcot–Marie–Tooth disease 1F, 2E * Amyotrophic lateral sclerosis 5 * Laminopathy: LMNA * Mandibuloacral dysplasia * Dunnigan Familial partial lipodystrophy * Emery–Dreifuss muscular dystrophy 2 * Limb-girdle muscular dystrophy 1B * Charcot–Marie–Tooth disease 2B1 * LMNB * Barraquer–Simons syndrome * LEMD3 * Buschke–Ollendorff syndrome * Osteopoikilosis * LBR * Pelger–Huet anomaly * Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin * Charcot–Marie–Tooth disease 2A * Hereditary spastic paraplegia 10 Dynein * Primary ciliary dyskinesia * Short rib-polydactyly syndrome 3 * Asphyxiating thoracic dysplasia 3 Other * Tauopathy * Cavernous venous malformation Membrane * Spectrin: Spinocerebellar ataxia 5 * Hereditary spherocytosis 2, 3 * Hereditary elliptocytosis 2, 3 Ankyrin: Long QT syndrome 4 * Hereditary spherocytosis 1 Catenin * APC * Gardner's syndrome * Familial adenomatous polyposis * plakoglobin (Naxos syndrome) * GAN (Giant axonal neuropathy) Other * desmoplakin: Striate palmoplantar keratoderma 2 * Carvajal syndrome * Arrhythmogenic right ventricular dysplasia 8 * plectin: Epidermolysis bullosa simplex with muscular dystrophy * Epidermolysis bullosa simplex of Ogna * plakophilin: Skin fragility syndrome * Arrhythmogenic right ventricular dysplasia 9 * centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II) Related topics: Cytoskeletal proteins [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Laminopathy	None	30,492	wikipedia	https://en.wikipedia.org/wiki/Laminopathy	2021-01-18T19:01:25	{"orphanet": ["98301"], "synonyms": [], "wikidata": ["Q3216770"]}
Entry for Blain from Ephraim Chambers' 1728 Cyclopædia Blain was an animal disease of unknown etiology that was well known in the eighteenth- and nineteenth centuries. It is unclear whether it is still extant, or what modern disease it corresponds to. According to Ephraim Chambers' eighteenth-century Cyclopaedia, or an Universal Dictionary of Arts and Sciences, blain was "a distemper" (in the archaic eighteenth-century sense of the word, meaning "disease") occurring in animals, consisting of a "Bladder growing on the Root of the Tongue against the Wind-Pipe", which "at length swelling, stops the Wind". It was thought to occur "by great chafing, and heating of the Stomach". Blain is also mentioned in Cattle: Their Breeds, Management, and Diseases, published in 1836, where it is also identified as "gloss-anthrax".[1] W. C. Spooner's 1888 book The History, Structure, Economy and Diseases of the Sheep also identifies blain as being the same as gloss-anthrax.[2] A description of blain is provided in the Horticulture column of the Monday Morning edition of the Belfast News-Letter, September 13, 1852.[3] Headline: The Prevailing Epidemic Disease in Horned Cattle - The Mouth and Food Disease. "There are two diseases of the mouth - one of a very serious character, which is called blain (gloss anthrax) or inflammation of the tongue. This is a very virulent disease, and sometimes of a very rapid action, and which should be at once attended to, and not trifled with; but though it always exhibits itself in inflammation of the membranes of the mouth, beneath or above the tongue, and the sides of the tongue itself, it soon extends through the whole system, and, according to the best veterinarians, involves inflammation and gangrene of the oesophagus and intestines. The symptoms are many, the eyes are inflamed, and constantly weeping; swellings appear round the eyes and some other parts of the body; the pulse quick, heaving of the flanks, and the bowels sometimes constipated. Such are the general symptoms of this formidable disease, more or less aggravated by neglect of inattention in mitigation." It continues to describe treatment including deep lancing of blisters, blood letting, Epsom salt doses, chloride of lime rinses, tincture of diluted myrrh, fever treatments supplied in the animals feed, etc. Modern scholarship suggests that "gloss-anthrax" was not the same disease as modern-day anthrax, but instead could have been foot-and-mouth disease, or a viral infection with a secondary Fusobacterium necrophorum infection.[4] It has also been suggested that it may have been due to a variant strain of true anthrax that is no longer in existence.[4] Other sources also report epizootics known as "blain" or "black-blain" in the 13th and 14th centuries,[5] but it is not clear if the disease involved was the same as "gloss-anthrax". ## References[edit] * This article incorporates text from a publication now in the public domain: Chambers, Ephraim, ed. (1728). "Blain". Cyclopædia, or an Universal Dictionary of Arts and Sciences (1st ed.). James and John Knapton, et al. p. 106. 1. ^ ed. William Youatt (1836). "Cattle: Their Breeds, Management, and Diseases". Retrieved 2012-10-05.CS1 maint: extra text: authors list (link) page 326, page 386 2. ^ W. C. Spooner (1888). The History, Structure, Economy and Diseases of the Sheep. OL 23411718M. page 310 3. ^ “The Prevailing Epidemic Disease in Horned Cattle - The Mouth and Food Disease.” Belfast News-Letter, September 13, 1852, Monday Morning edition, sec. Horticulture, Etc. 4. ^ a b Jones, Susan D. (2010). Death in a Small Package: A Short History of Anthrax. JHUP. p. 22. ISBN 9781421402529. 5. ^ Jones, Susan D. (2010). Death in a Small Package: A Short History of Anthrax. JHUP. p. 27. ISBN 9781421402529. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Blain (animal disease)	None	30,493	wikipedia	https://en.wikipedia.org/wiki/Blain_(animal_disease)	2021-01-18T18:36:46	{"wikidata": ["Q4923912"]}
Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Ischiovertebral syndrome	None	30,494	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85200	2021-01-23T17:31:05	{"icd-10": ["Q77.8"], "synonyms": ["Ischiospinal dysostosis", "Ischiovertebral dysplasia"]}
SAHA syndrome Other namesDermatological androgenization syndrome SAHA syndrome, is a medical syndrome characterized by seborrhoea, acne, hirsutism and alopecia, and was first described in 1982.[1] It is frequently associated with polycystic ovary syndrome, cystic mastitis, obesity, and infertility.[2][3] ## See also[edit] * Hyperandrogenism * HAIR-AN syndrome * List of cutaneous conditions ## References[edit] 1. ^ Jean L. Bolognia; Joseph L. Jorizzo; Ronald P. Rapini. Dermatology. Gulf Professional Publishing. pp. 1081–. ISBN 9789997638991. 2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 1013–14. ISBN 978-1-4160-2999-1. 3. ^ Orfanos CE, Adler YD, Zouboulis CC (2000). "The SAHA syndrome". Horm. Res. 54 (5–6): 251–8. doi:10.1159/000053267. PMID 11595813. S2CID 20067880. This cutaneous condition article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	SAHA syndrome	None	30,495	wikipedia	https://en.wikipedia.org/wiki/SAHA_syndrome	2021-01-18T18:43:58	{"wikidata": ["Q7388564"]}
## Clinical Features Mustapha et al. (1998) reported a large consanguineous Lebanese family affected with a prelingual profound sensorineural isolated form of deafness. Mapping Mustapha et al. (1998) performed linkage analysis in a Lebanese family affected with a prelingual profound sensorineural isolated form of deafness and placed the deafness locus between D7S554 and D7S2459 on 7q31, with a maximum lod score of 6.3. The causative gene was mapped to a 15-cM interval extending from D7S527 to D7S3074 (on the telomeric side). The DFNB14 gene on 7q31 lies proximal to PDS. Because of the identical location and phenotype, this locus and that identified as DFNB17 (603010) may be the same. Molecular Genetics ### Exclusion Studies Because DFNB14 maps close to the PDS gene mutant in Pendred syndrome (274600), Mustapha et al. (1998) sequenced all 21 exons of the PDS gene and found no mutations. INHERITANCE \- Autosomal recessive HEAD & NECK Ears \- Hearing loss, sensorineural, profound bilateral MISCELLANEOUS \- Prelingual onset \- One Lebanese family has been reported ▲ Close [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	DEAFNESS, AUTOSOMAL RECESSIVE 14	c1863613	30,496	omim	https://www.omim.org/entry/603678	2019-09-22T16:12:45	{"doid": ["0110469"], "mesh": ["C566344"], "omim": ["603678"], "orphanet": ["90636"], "synonyms": ["Autosomal recessive isolated neurosensory deafness type DFNB", "Autosomal recessive isolated sensorineural deafness type DFNB", "Autosomal recessive non-syndromic neurosensory deafness type DFNB"]}
A rare colorectal disease characterized by multiple inflammatory polyps that predominantly affect the rectosigmoid area and that manifests primarily as rectal bleeding with abnormal transit, constipation and diarrhea. ## Epidemiology To date, around 67 cases have been described in the world literature. Females seem to be more affected than males. ## Clinical description The mean age at presentation is 49 years (range 5-79 years) with clinical manifestations including constipation alternating with periods of mucous and bloody diarrhea, associated with rectal bleeding, chronic straining with defecation, tenesmus, abdominal pain, fatigue, and loss of appetite and weight. Some patients may also show lower limb edema due to a protein-losing enteropathy. ## Etiology The etiology of Cap polyposis (CP) is still unclear but various causes including lower colonic mucosal prolapse, mucosal ischemia, inflammation, abnormal colonic motility, repeated trauma to the colonic mucosa caused by straining, infections (such as Helicobacter pylori infection), and immune disorders have been proposed. ## Diagnostic methods The diagnosis of CP relies on colonoscopy which reveals multiple polyps with white muco-fibrinoid caps and a normal intervening mucosa. The lesions are mainly located in the rectum and sigmoid colon. Pathological examination shows a polypoid lesion with an ulcerated cap of fibrin and mucus, elongated tortuous crypts filled with mucoid exudate, and possibly smooth muscle fibers in the mucosa. Laboratory findings may reveal hypoproteinemia, hypoalbuminemia, and severe anemia with low hemoglobin concentration. C-reactive protein (CRP) levels or white blood cell counts are mostly within the normal reference range. ## Differential diagnosis Differential diagnosis includes juvenile polyposis syndrome, Cronkhite-Canada syndrome (see these terms), amoebic dysentery, mucosal prolapse syndrome, and inflammatory bowel disease, primarily ulcerative colitis (with inflammatory polyps). ## Management and treatment CP has been treated empirically using sulfasalazine, 5-aminosalicylic acid, orally or anally administered steroids, metronidazole, quinolone, Helicobacter pylori eradication therapy and infliximab. For cases refractory to treatment, polypectomy (for fewer than 10 polyps) or surgical resection (for greater numbers of polyps) may be successful. Patients with predominant straining/constipation symptoms can be treated with laxatives. ## Prognosis CP is not a premalignant condition. The clinical course of CP ranges from spontaneous remission to a disease course requiring surgical resection of the affected bowel segments. However, the recurrence rates are high, particularly if numerous polyps are present. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Cap polyposis	c4303971	30,497	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=160148	2021-01-23T18:56:09	{"icd-10": ["D12.6"], "synonyms": ["Cap inflammatory polyposis", "Eroded polypoid hyperplasia", "Inflammatory myoglandular polyps", "Polypoid prolapsing folds"]}
CHAPLE Syndrome SpecialtyMedical genetics SymptomsGastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, hypogammaglobulinemia, intestinal lymphangiectasia [1,2] DurationLifelong CausesGenetic (autosomal recessive) Diagnostic methodGenetic testing TreatmentEculizumab CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with hyper-activation of complement, angiopathic thrombosis, and severe protein-losing enteropathy (PLE)."[1] The disorder usually manifests in childhood and can be life-threatening. This condition was described by Özen, et al. in 2017.[1] ## Contents * 1 Signs and symptoms * 2 Genetics * 2.1 Inheritance * 3 Pathophysiology * 4 Diagnosis * 5 Treatment * 6 References ## Signs and symptoms[edit] CHAPLE is characterized by severe protein-losing enteropathy leading to hypoproteinemia. Symptoms can include abdominal pain, nausea, vomiting, diarrhea, loss of appetite, weight loss, and edema.[1] People also have chronic malabsorption, which causes deficiencies in iron, ferritin, calcium, magnesium, folate, vitamin D and vitamin B12. [1] Some patients may have recurrent respiratory infections associated with hypogammaglobulinemia.[1] Severe thrombotic vascular occlusions may also be found among these patients.[1] ## Genetics[edit] CHAPLE Syndrome has an autosomal recessive pattern of inheritance CHAPLE syndrome is caused by mutations of the complement regulator CD55 gene leading to a loss of protein expression.[1] ### Inheritance[edit] CHAPLE syndrome is primarily inherited in an autosomal recessive manner.[1] This means that usually a child inherits a copy of the mutated gene from both parents, resulting in a homozygous defect.[2] ## Pathophysiology[edit] CHAPLE syndrome is characterized by complement-mediated autoimmune hemolysis and paroxysmal nocturnal hemoglobinuria. The protein CD55 (also called decay-accelerating factor) helps to regulate the complement cascade, part of the innate immune system, by regulating the amplification phase. When CD55 is absent, the complement system attacks red blood cells and causes them to be destroyed (hemolysis).[3][4][5] ## Diagnosis[edit] CHAPLE syndrome patients are generally diagnosed through a combination of clinical presentation, histology, and genetic testing. Although symptom presentation may vary, patients generally present with early-onset gastrointestinal symptoms, edema, malnutrition, hypoalbuminemia, and hypogammaglobulinemia.[1] Histopathological assessment of intestinal biopsy samples or resections revealed extensive lymphangiectasia, and suggest a diagnosis of primary intestinal lymphangiectasia.[1] Patients are also susceptible to large-vein thrombosis.[1] ## Treatment[edit] Once a diagnosis is made, the treatment is based on an individual’s clinical condition. Kurolap and colleagues treated patients with off-label eculizumab, a humanized anti-C5 monoclonal antibody and complement inhibitor, and it was shown to have beneficial outcomes over an 18-month period.[6] Investigators at Marmara University in Istanbul, Turkey, and the National Institute of Allergy and Infectious Diseases at the US National Institutes of Health in Bethesda, Maryland currently have clinical protocols to study new approaches to the diagnosis and treatment of this disorder.[7] ## References[edit] 1. ^ a b c d e f g h i j k Ozen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, et al. (July 2017). "CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis". The New England Journal of Medicine. 377 (1): 52–61. doi:10.1056/NEJMoa1615887. PMC 6690356. PMID 28657829. 2. ^ Levine F. "Basic Genetic Principles". Fetal and neonatal physiology (Fifth ed.). Philadelphia, PA. pp. 1–13. doi:10.1016/B978-0-323-35214-7.00001-9. ISBN 978-0-323-35214-7. 3. ^ "Paroxysmal Nocturnal Hemoglobinuria (PNH) - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2018-01-07. 4. ^ Brodsky RA (November 2015). "Complement in hemolytic anemia". Blood. 126 (22): 2459–65. doi:10.1182/blood-2015-06-640995. PMID 26582375. 5. ^ Ozen A (January 2019). "CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease". Immunological Reviews. 287 (1): 20–32. doi:10.1111/imr.12715. PMID 30565236. 6. ^ Kurolap A, Eshach Adiv O, Hershkovitz T, Tabib A, Karbian N, Paperna T, et al. (March 2019). "Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency". Journal of Pediatric Gastroenterology and Nutrition. 68 (3): 325–333. doi:10.1097/MPG.0000000000002198. PMID 30418410. 7. ^ Clinical trial number NCT04209634 for "An Open-Label Efficacy and Safety Study of Pozelimab in Patients With CD55-Deficient Protein-Losing Enteropathy (CHAPLE Disease)" at ClinicalTrials.gov [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	CD55 deficiency	None	30,498	wikipedia	https://en.wikipedia.org/wiki/CD55_deficiency	2021-01-18T19:06:38	{"orphanet": ["566175"], "wikidata": ["Q55647681"]}
Macular hole Optical coherence tomography (OCT) of a macular hole (right) as compared to a normal macula. SpecialtyOphthalmology A macular Hole A macular hole is a small break in the macula, located in the center of the eye's light-sensitive tissue called the retina. ## Contents * 1 Symptoms * 2 Causes * 3 Diagnosis * 4 Management * 5 References * 6 External links ## Symptoms[edit] If the vitreous is firmly attached to the retina when it pulls away, it can tear the retina and create a macular hole. Also, once the vitreous has pulled away from the surface of the retina, some of the fibers can remain on the retinal surface and can contract. This increases tension on the retina and can lead to a macular hole. In either case, the fluid that has replaced the shrunken vitreous can then seep through the hole onto the macula, blurring and distorting central vision.[1] ## Causes[edit] The eye contains a jelly-like substance called the vitreous. Shrinking of the vitreous usually causes the hole. As a person ages, the vitreous becomes watery and begins to pull away from the retina. If the vitreous is firmly attached to the retina when it pulls away, a hole can result.[2] ## Diagnosis[edit] Macular hole on the right eye Classification of Vitreomacular Adhesion, Traction, and Macular Hole (IVTS 2013) Macular degeneration is a condition affecting the tissues lying under the retina, while a macular hole involves damage from within the eye, at the junction between the vitreous and the retina itself. There is no relationship between the two diseases. Depending upon the degree of attachment or traction between the vitreous and the retina, there may be risk of developing a macular hole in the other eye. In those cases where the vitreous has already become separated from the retinal surface, there is very little chance of developing a macular hole in the other eye. On the other hand, when the vitreous remains adherent and pulling on the macular region in both eyes, then there may be a greater risk of developing a hole in the second eye. In very rare instances, trauma or other conditions lead to the development of a macular hole. In the vast majority of cases, however, macular holes develop spontaneously. As a result, there is no known way to prevent their development through any nutritional or chemical means, nor is there any way to know who is at risk for developing a hole prior to its appearance in one or both eyes. [3] ## Management[edit] Vitrectomy is the common way to treat a macular hole. It is done by placing a gas bubble in the vitreous of the eye which helps flatten the macular hole and holds it in place as the eye heals. The gas bubble slowly shrinks on its own.[4] Treatment is also done using ocriplasmin.[5] ## References[edit] 1. ^ "Facts About Macular Hole — National Eye Institute". Retrieved 2008-06-19. 2. ^ "Macular Hole — Columbia Ophthalmology". 3. ^ "Macular Hole". Archived from the original on 2008-06-17. Retrieved 2008-06-19. 4. ^ "Macular Hole Treatment". American Academy of Ophthalmology. American Academy of Ophthalmology. 1 September 2017. Retrieved 15 December 2017. 5. ^ Hemminki, K (16 July 1973). "Turnover of actin in rat brain". Brain Research. 57 (1): 259–60. doi:10.1016/0006-8993(73)90589-1. PMID 4716759. 5\. Saurabh K, Roy R, Mishra S, Garg B, Goel S. Multicolor imaging features of dissociated optic nerve fiber layer after internal limiting membrane peeling. Indian journal of ophthalmology. 2018 Dec 1;66(12):1853. ## External links[edit] * Macular Hole Resource Guide from the National Eye Institute (NEI). [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitor [TCAs]: Tricyclic antidepressants [MAOIs]: Monoamine oxidase inhibitors [MSNs]: medium spiny neurons [CREB]: cAMP response element binding protein [NC]: neurogenic claudication [LSS]: lumbar spinal stenosis [DDD]: degenerative disc disease [CI]: confidence interval [E2]: estradiol [CEEs]: conjugated estrogens [Diff]: Difference [7d avg]: Average of the last 7 days [per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population [Cases per 100k]: Cases per 100,000 county population [Deaths per 100k]: Deaths per 100,000 county population [Percent]: Percent of total in category [Rate]: ICU-care cases per confirmed cases in each category [GER]: Germany [FRA]: France [ITA]: Italy [ESP]: Spain [DEN]: Denmark [SUI]: Switzerland [USA]: United States [COL]: Colombia [KAZ]: Kazakhstan [NED]: Netherlands [LIT]: Lithuania [POR]: Portugal [AUT]: Austria [AUS]: Australia [RUS]: Russia [LUX]: Luxembourg [UKR]: Ukraine [SLO]: Slovenia [GBR]: Great Britain [CZE]: Czech Republic [BEL]: Belgium [CAN]: Canada [DHT]: Dihydrotestosterone [IM]: intramuscular injection [SC]: subcutaneous injection [MRIs]: monoamine reuptake inhibitors [GHB]: γ-hydroxybutyric acid [pop.]: population [et al.]: et alia (and others) [a.k.a.]: also known as [mRNA]: messenger RNA [kDa]: kilodalton [EPC]: Early Prostate Cancer [LAPC]: locally advanced prostate cancer [NSAAs]: nonsteroidal antiandrogens [NSAA]: nonsteroidal antiandrogen [GnRH]: gonadotropin-releasing hormone [ADT]: androgen deprivation therapy [LH]: Luteinizing hormone [AR]: Androgen receptor [CAB]: combined androgen blockade [LPC]: localized prostate cancer [CPA]: cyproterone acetate [U.S.]: United States [FDA]: Food and Drug Administration [lit.]: literal translation [CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid [No.]: Number [XLSMA]: X-linked spinal muscular atrophies [DSMA]: Distal spinal muscular atrophies [EUA]: emergency use authorization [AAS]: anabolic–androgenic steroid [hCG]: human chorionic gonadotropin [SARMs]: Selective androgen receptor modulator [GPRC6A]: G protein-coupled receptor family C group 6 member A [SHBG]: Sex hormone-binding globulin [ATP]: Adenosine triphosphate [CNTs]: Concentrative nucleoside transporters [ENTs]: Equilibrative nucleoside transporters [PMAT]: Plasma membrane monoamine transporter [XO]: Xanthine oxidase [[]]: Article is not yet available in this wiki. [Pub.L.]: Public Law (United States) [CFUs]: Colony-forming units [nm]: nanometer [CRF]: corticotropin-releasing factor [cAMP]: cyclic adenosine monophosphate [†]: Extinct [VDCCs]: voltage-dependent calcium channels [ADHD]: Attention-deficit hyperactivity disorder [CNS]: central nervous system [PPD]: Paranoid Personality Disorder [SzPD]: Schizoid Personality Disorder [StPD]: Schizotypal Personality Disorder [ASPD]: Antisocial Personality Disorder [BPD]: Borderline Personality Disorder [HPD]: Histrionic Personality Disorder [NPD]: Narcissistic Personality Disorder [AvPD]: Avoidant Personality Disorder [DPD]: Dependent Personality Disorder [OCPD]: Obsessive-Compulsive Personality Disorder [PAPD]: Passive-Aggressive Personality Disorder [DpPD]: Depressive Personality Disorder [SDPD]: Self-Defeating Personality Disorder [SaPD]: Sadistic Personality Disorder [m.]: married [MSM]: Men who have sex with men [NI]: Northern Ireland [%DV]: Percentage of Daily Value [NSW DCR]: New South Wales District Court Reports [transl.]: translation [α2δ]: alpha2delta subunit [VDCC]: voltage-gated calcium channel [GABAAR]: GABAA receptor [PAMs]: positive allosteric modulators [H1R]: H1 receptor [TeCAs]: Tetracyclic antidepressants [OXR]: Orexin receptor [MTR]: Melatonin receptor [THC]: tetrahydrocannabinol [5-HTP]: 5-hydroxytryptophan [NRIs]: Norepinephrine reuptake inhibitors [NDRIs]: Norepinephrine–dopamine reuptake inhibitors [NaSSAs]: Noradrenergic and specific serotonergic antidepressants [SARIs]: Serotonin antagonist and reuptake inhibitors [SMS]: Serotonin modulator and stimulators [MAOA]: Monoamine oxidase A [MAOB]: Monoamine oxidase B [SAMe]: S-adenosyl-L-methionine [FSH]: Follicle-stimulating hormone [HHAT]: hedgehog acyltransferase [Hh]: Hedgehog *[ABS]: amniotic band syndrome	Macular hole	c0024441	30,499	wikipedia	https://en.wikipedia.org/wiki/Macular_hole	2021-01-18T19:04:22	{"mesh": ["D012167"], "umls": ["C0024441"], "icd-9": ["362.54"], "icd-10": ["H35.3"], "wikidata": ["Q1427032"]}

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