KEGG DISEASE: Fechtner syndrome

KEGG

DISEASE: Fechtner syndrome

Entry

H02053                      Disease

Name

Fechtner syndrome

Supergrp

MYH9-related disease [DS:H00233]
Macrothrombocytopenia [DS:H01740]

Description

Fechtner syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features of cataracts and blue leukocyte inclusion bodies (Doehle-like bodies). It is linked to mutations in MYH9, the nonmuscle myosin heavy chain.

Category

Cardiovascular disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   3B64  Thrombocytopenia
    H02053  Fechtner syndrome

Pathway

Regulation of actin cytoskeleton

Vascular smooth muscle contraction

Tight junction

Gene

MYH9 [HSA:4627] [KO:K10352]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA

Title

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

Journal

Nat Genet 26:103-5 (2000)
DOI:10.1038/79063

Reference

Authors

Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI

Title

Renal manifestations of patients with MYH9-related disorders.

Journal

Pediatr Nephrol 26:549-55 (2011)
DOI:10.1007/s00467-010-1735-3

LinkDB

» Japanese version

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