KEGG DISEASE: Ataxia-pancytopenia syndrome

KEGG

DISEASE: Ataxia-pancytopenia syndrome

Entry

H02524                      Disease

Name

Ataxia-pancytopenia syndrome

Description

Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder, characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes associated with monosomy 7. It has been reported that ATXPC is caused by missense mutations in SAMD9L.

Category

Hematologic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   3A70  Aplastic anaemia
    H02524  Ataxia-pancytopenia syndrome

Gene

SAMD9L [HSA:219285] [KO:K23949]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH

Title

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.

Journal

Am J Hum Genet 98:1146-1158 (2016)
DOI:10.1016/j.ajhg.2016.04.009

Reference

Authors

Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Mottonen M, Niinimaki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgard U, Cammenga J, Bryceson YT

Title

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

Journal

Blood 129:2266-2279 (2017)
DOI:10.1182/blood-2016-10-743302

Reference

Authors

Raskind WH, Chen DH, Bird T

Title

SAMD9L Ataxia-Pancytopenia Syndrome

Journal

GeneReviews (1993)

LinkDB

» Japanese version

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