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Anhidrosis, familial generalized, with abnormal or absent sweat glands

MedGen UID:
895862
Concept ID:
C4225670
Disease or Syndrome
Synonym: ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
 
Monarch Initiative: MONDO:0008794
OMIM®: 206600

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Shen Q, Liu J, Chen J, Zhou S, Wang Y, Yu L, Sun L, Wang L, Wu B, Liu F, Cao Y, Huang Y, Wang J, Yang C, Zhu D, Ma Y, Xu Z, Lu W, Fu L, Zhou W, Xu H
Orphanet J Rare Dis 2021 Dec 14;16(1):509. doi: 10.1186/s13023-021-02136-1. PMID: 34906154Free PMC Article
Schneider H, Hammersen J, Preisler-Adams S, Huttner K, Rascher W, Bohring A
J Med Genet 2011 Jun;48(6):426-32. Epub 2011 Feb 26 doi: 10.1136/jmg.2010.084012. PMID: 21357618

Recent clinical studies

Etiology

Li S, Ren X, Guan Y, Zhao F, Cao Y, Geng X, Wang Y, Wu N, Wu L, Zhao X
Pain 2024 Sep 1;165(9):1926-1943. Epub 2024 May 31 doi: 10.1097/j.pain.0000000000003252. PMID: 38833577
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Wine JJ
J Cyst Fibros 2022 May;21(3):396-406. Epub 2022 Feb 17 doi: 10.1016/j.jcf.2022.02.001. PMID: 35184981
Zis P, Shafique F, Sarrigiannis PG, Artemiadis A, Rao DG, Sanders DS, Hadjivassiliou M
Neurol Sci 2022 May;43(5):3381-3385. Epub 2021 Nov 17 doi: 10.1007/s10072-021-05751-9. PMID: 34791566Free PMC Article
Itin PH, Fistarol SK
Am J Med Genet C Semin Med Genet 2004 Nov 15;131C(1):45-51. doi: 10.1002/ajmg.c.30033. PMID: 15468153

Diagnosis

Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Zis P, Shafique F, Sarrigiannis PG, Artemiadis A, Rao DG, Sanders DS, Hadjivassiliou M
Neurol Sci 2022 May;43(5):3381-3385. Epub 2021 Nov 17 doi: 10.1007/s10072-021-05751-9. PMID: 34791566Free PMC Article
Tokura Y
Allergol Int 2021 Jan;70(1):39-44. Epub 2020 Jun 19 doi: 10.1016/j.alit.2020.05.006. PMID: 32565175
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679
Cheshire WP, Freeman R
Semin Neurol 2003 Dec;23(4):399-406. doi: 10.1055/s-2004-817724. PMID: 15088261

Therapy

Zis P, Shafique F, Sarrigiannis PG, Artemiadis A, Rao DG, Sanders DS, Hadjivassiliou M
Neurol Sci 2022 May;43(5):3381-3385. Epub 2021 Nov 17 doi: 10.1007/s10072-021-05751-9. PMID: 34791566Free PMC Article
Shen Q, Liu J, Chen J, Zhou S, Wang Y, Yu L, Sun L, Wang L, Wu B, Liu F, Cao Y, Huang Y, Wang J, Yang C, Zhu D, Ma Y, Xu Z, Lu W, Fu L, Zhou W, Xu H
Orphanet J Rare Dis 2021 Dec 14;16(1):509. doi: 10.1186/s13023-021-02136-1. PMID: 34906154Free PMC Article
Destegul D, Kocaöz F, Sarı AS
Agri 2019 Nov;31(4):202-205. doi: 10.14744/agri.2019.91297. PMID: 31741348
Luo KR, Chao CC, Chen YT, Huang CM, Yang NC, Kan HW, Wang SH, Yang WS, Hsieh ST
J Neuropathol Exp Neurol 2011 Oct;70(10):930-8. doi: 10.1097/NEN.0b013e318230b0f4. PMID: 21937916
Cheshire WP, Freeman R
Semin Neurol 2003 Dec;23(4):399-406. doi: 10.1055/s-2004-817724. PMID: 15088261

Prognosis

Oulès B, Deschamps L, Sohier P, Tihy M, Chassac A, Couvelard A, Frouin E, Battistella M
Mod Pathol 2023 Apr;36(4):100101. Epub 2023 Jan 18 doi: 10.1016/j.modpat.2023.100101. PMID: 36788082
Nagai-Sangawa M, Fukunaga A, Takeuchi C, Nishiyama S, Horikawa T, Nagano C, Nozu K, Fujii H, Nishigori C
J Dermatol 2022 Feb;49(2):308-312. Epub 2021 Nov 19 doi: 10.1111/1346-8138.16237. PMID: 34796992
Kuroda N, Fujishima N, Hayes MM, Moritani S, Ichihara S
Malays J Pathol 2014 Aug;36(2):139-43. PMID: 25194537
Rouse C, Siegfried E, Breer W, Nahass G
Arch Dermatol 2004 Jul;140(7):850-5. doi: 10.1001/archderm.140.7.850. PMID: 15262696
Tanner BA
Birth Defects Orig Artic Ser 1988;24(2):263-75. PMID: 3052620

Clinical prediction guides

Oulès B, Deschamps L, Sohier P, Tihy M, Chassac A, Couvelard A, Frouin E, Battistella M
Mod Pathol 2023 Apr;36(4):100101. Epub 2023 Jan 18 doi: 10.1016/j.modpat.2023.100101. PMID: 36788082
Echaniz-Laguna A, Altuzarra C, Verloes A, De La Banda MGG, Quijano-Roy S, Tudorache RA, Jaxybayeva A, Myrzaliyeva B, Tazir M, Vallat JM, Francou B, Urtizberea JA
Neurogenetics 2021 Oct;22(4):333-341. Epub 2021 Aug 17 doi: 10.1007/s10048-021-00668-z. PMID: 34405299
Park JS, Ko JM, Chae JH
Cytogenet Genome Res 2019;158(1):1-9. Epub 2019 May 24 doi: 10.1159/000500214. PMID: 31129666
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679
Rouse C, Siegfried E, Breer W, Nahass G
Arch Dermatol 2004 Jul;140(7):850-5. doi: 10.1001/archderm.140.7.850. PMID: 15262696

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