KEGG   DISEASE: 先天性 NAD 欠乏症
エントリ  
H02087                                                             

名称    
先天性 NAD 欠乏症
概要    
Vertebral, cardiac, renal, and limb defects syndrome (VCRL) is an autosomal recessive congenital malformation syndrome. It has been reported that disruption of nicotinamide adenine dinucleotide (NAD) synthesis causes a deficiency of NAD and congenital malformations in humans and mice.
カテゴリ  
先天性代謝異常症
階層分類  
ヒト疾患 [BR:jp08402]
 先天性代謝異常症
  先天性アミノ酸代謝異常症
   H02087  先天性 NAD 欠乏症
ICD-11 による疾患分類 [BR:jp08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02087  先天性 NAD 欠乏症
関連パスウェイ
hsa01240  Biosynthesis of cofactors
hsa00380  Tryptophan metabolism
病因遺伝子 
HAAO [HSA:23498] [KO:K00452]
KYNU [HSA:8942] [KO:K01556]
リンク   
ICD-11: LD2F.1Y
ICD-10: E70.8
OMIM: 617660 617661
文献    
  著者
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
  タイトル
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
  雑誌
N Engl J Med 377:544-552 (2017)
DOI:10.1056/NEJMoa1616361

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