KEGG   DISEASE: CIMDAG 症候群
エントリ  
H02548                                                             
名称    
CIMDAG 症候群
概要    
CIMDAG syndrome is a multisystem disease characterized by cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation. CIMDAG syndrome is caused by mutations in VPS4A, a critical enzyme regulating ESCRT function.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02548  CIMDAG 症候群
パスウェイ 
hsa04144  Endocytosis
hsa04217  Necroptosis
病因遺伝子 
VPS4A [HSA:27183] [KO:K12196]
リンク   
ICD-11: LD2F.Y
OMIM: 619273
文献    
PMID:33186543
  著者
Seu KG, Trump LR, Emberesh S, Lorsbach RB, Johnson C, Meznarich J, Underhill HR, Chou ST, Sakthivel H, Nassar NN, Seu KJ, Blanc L, Zhang W, Lutzko CM, Kalfa TA
  タイトル
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.
  雑誌
Am J Hum Genet 107:1149-1156 (2020)
DOI:10.1016/j.ajhg.2020.10.013
文献    
PMID:33186545
  著者
Rodger C, Flex E, Allison RJ, Sanchis-Juan A, Hasenahuer MA, Cecchetti S, French CE, Edgar JR, Carpentieri G, Ciolfi A, Pantaleoni F, Bruselles A, Onesimo R, Zampino G, Marcon F, Siniscalchi E, Lees M, Krishnakumar D, McCann E, Yosifova D, Jarvis J, Kruer MC, Marks W, Campbell J, Allen LE, Gustincich S, Raymond FL, Tartaglia M, Reid E
  タイトル
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
  雑誌
Am J Hum Genet 107:1129-1148 (2020)
DOI:10.1016/j.ajhg.2020.10.012
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