KEGG   DISEASE: 無脳症
エントリ  
H02120                                                             
名称    
無脳症
  上位グループ
神経管欠損症 [DS:H02563]
概要    
Anencephaly (ANPH1) is a congenital absence of a major portion of the brain, skull, and scalp. The primary abnormality is failure of cranial neurulation, the embryologic process that separates the precursors of the forebrain from amniotic fluid. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance has been reported. Women with elevated levels of plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at an increased risk of having a child with neural tube defect (NTD). NTDs are the second most common type of birth defects and include anencephaly and open spina bifida [DS:H00262].
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
  主に1つの体系に影響する構造的発達異常
   神経系の構造的発達異常
    LA00  無脳症または類似異常
     H02120  無脳症
病因遺伝子 
(ANPH1) TRIM36 [HSA:55521] [KO:K12013]
(ANPH2) NUAK2 [HSA:81788] [KO:K08800]
リンク   
ICD-11: LA00.0
MeSH: D000757
OMIM: 206500 619452
文献    
PMID:4591551
  著者
Nakano KK
  タイトル
Anencephaly: a review.
  雑誌
Dev Med Child Neurol 15:383-400 (1973)
DOI:10.1111/j.1469-8749.1973.tb04899.x
文献    
PMID:2406598
  タイトル
The infant with anencephaly.
  雑誌
N Engl J Med 322:669-74 (1990)
DOI:10.1056/NEJM199003083221006
文献    
PMID:28087737 (ANPH1)
  著者
Singh N, Kumble Bhat V, Tiwari A, Kodaganur SG, Tontanahal SJ, Sarda A, Malini KV, Kumar A
  タイトル
A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.
  雑誌
Hum Mol Genet 26:1104-1114 (2017)
DOI:10.1093/hmg/ddx020
文献    
PMID:32845958 (ANPH2)
  著者
Bonnard C, Navaratnam N, Ghosh K, Chan PW, Tan TT, Pomp O, Ng AYJ, Tohari S, Changede R, Carling D, Venkatesh B, Altunoglu U, Kayserili H, Reversade B
  タイトル
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
  雑誌
J Exp Med 217:e20191561 (2020)
DOI:10.1084/jem.20191561
LinkDB    

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