KEGG DISEASE: MYH9-related disease

KEGG

DISEASE: MYH9-related disease

Entry

H00233                      Disease

Name

MYH9-related disease;
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)

Subgroup

May-Hegglin anomaly [DS:H02051]
Sebastian syndrome [DS:H02052]
Epstein syndrome [DS:H00578]
Fechtner syndrome [DS:H02053]

Supergrp

Macrothrombocytopenia [DS:H01740]

Description

The autosomal dominant disorders, which are caused by mutation of gene encoding nonmuscle myosin heavy chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (Dohle-like bodies). Epstein syndrome is clinically identical to FTNS, except Dohle-like bodies have not been described.

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
    H00233  MYH9-related disease

Pathway

Vascular smooth muscle contraction

Tight junction

Regulation of actin cytoskeleton

Gene

MYH9 [HSA:4627] [KO:K10352]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Althaus K, Greinacher A

Title

MYH9-related platelet disorders.

Journal

Semin Thromb Hemost 35:189-203 (2009)
DOI:10.1055/s-0029-1220327

Reference

Authors

Selleng K, Lubenow LE, Greinacher A, Warkentin TE

Title

Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).

Journal

Eur J Haematol 79:263-8 (2007)
DOI:10.1111/j.1600-0609.2007.00913.x

Reference

Authors

Pecci A, Canobbio I, Balduini A, Stefanini L, Cisterna B, Marseglia C, Noris P, Savoia A, Balduini CL, Torti M

Title

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.

Journal

Hum Mol Genet 14:3169-78 (2005)
DOI:10.1093/hmg/ddi344

Reference

Authors

Dong F, Li S, Pujol-Moix N, Luban NL, Shin SW, Seo JH, Ruiz-Saez A, Demeter J, Langdon S, Kelley MJ

Title

Genotype-phenotype correlation in MYH9-related thrombocytopenia.

Journal

Br J Haematol 130:620-7 (2005)
DOI:10.1111/j.1365-2141.2005.05658.x

Reference

Authors

Balduini CL, Iolascon A, Savoia A

Title

Inherited thrombocytopenias: from genes to therapy.

Journal

Haematologica 87:860-80 (2002)

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

Brodie HA, Chole RA, Griffin GC, White JG

Title

Macrothrombocytopenia and progressive deafness: a new genetic syndrome.

Journal

Am J Otol 13:507-11 (1992)

LinkDB

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