KEGG DISEASE: Radioulnar synostosis with amegakaryocytic thrombocytopenia

DISEASE: Radioulnar synostosis with amegakaryocytic thrombocytopenia

Entry

H00867                      Disease

Name

Radioulnar synostosis with amegakaryocytic thrombocytopenia

Description

This disease is a rare combination of proximal radio-ulnar synostosis and congenital amegakaryocytic thrombocytopenia. Bruising and bleeding problems are observed since birth in affected individuals. The disease is related with HOXA11 mutation.

Category

Congenital malformation

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
    H00867  Radioulnar synostosis with amegakaryocytic thrombocytopenia

Gene

(RUSAT1) HOXA11 [HSA:3207] [KO:K21951]
(RUSAT2) MECOM [HSA:2122] [KO:K04462]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:11101832 (RUSAT1)

Authors

Thompson AA, Nguyen LT

Title

Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation.

Journal

Nat Genet 26:397-8 (2000)
DOI:10.1038/82511

Reference

PMID:26581901 (RUSAT2)

Authors

Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y

Title

Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.

Journal

Am J Hum Genet 97:848-54 (2015)
DOI:10.1016/j.ajhg.2015.10.010

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (2)   
   PubMed (2)   
All databases (8)   

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