KEGG   DISEASE: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
エントリ  
H01937                                                             
名称    
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
概要    
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH) is an autosomal-recessive lethal fetal ciliopathy caused by loss-of-function mutations in CEP55. Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst.
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
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H01937  Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
病因遺伝子 
CEP55 [HSA:55165] [KO:K16456]
リンク   
ICD-11: LD20.Y
MeSH: C565507
OMIM: 236500
文献    
PMID:28264986
  著者
Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE
  タイトル
A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis.
  雑誌
J Med Genet 54:490-501 (2017)
DOI:10.1136/jmedgenet-2016-104296
文献    
PMID:28295209
  著者
Bondeson ML, Ericson K, Gudmundsson S, Ameur A, Ponten F, Wesstrom J, Frykholm C, Wilbe M
  タイトル
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
  雑誌
Clin Genet 92:510-516 (2017)
DOI:10.1111/cge.13012
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