KEGG   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 [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00867  Radioulnar synostosis with amegakaryocytic thrombocytopenia
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
HOXA11 [HSA:3207] [KO:K21951]
MECOM [HSA:2122] [KO:K04462]
Other DBs
ICD-11: 3B64.01
ICD-10: D69.8
MeSH: C565328
OMIM: 605432 616738
Reference
  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
  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

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