KEGG   DISEASE: CIMDAG syndrome
Entry
H02548                      Disease                                
Name
CIMDAG syndrome
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02548  CIMDAG syndrome
Pathway
hsa04144  Endocytosis
hsa04217  Necroptosis
Gene
VPS4A [HSA:27183] [KO:K12196]
Other DBs
ICD-11: LD2F.Y
OMIM: 619273
Reference
PMID:33186543
  Authors
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
  Title
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.
  Journal
Am J Hum Genet 107:1149-1156 (2020)
DOI:10.1016/j.ajhg.2020.10.013
Reference
PMID:33186545
  Authors
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
  Title
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
  Journal
Am J Hum Genet 107:1129-1148 (2020)
DOI:10.1016/j.ajhg.2020.10.012
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