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  
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
    H02087  先天性 NAD 欠乏症
パスウェイに基づく疾患分類 [BR:jp08402]
 アミノ酸代謝
  nt06036  リジンの分解
   H02087  先天性 NAD 欠乏症
パスウェイ 
hsa01240  Biosynthesis of cofactors
hsa00380  Tryptophan metabolism
ネットワーク
nt06036 Lysine degradation
病因遺伝子 
(VCRL1) HAAO [HSA:23498] [KO:K00452]
(VCRL2) KYNU [HSA:8942] [KO:K01556]
(VCRL3) NADSYN1 [HSA:55191] [KO:K01950]
リンク   
ICD-11: LD2F.1Y
OMIM: 617660 617661 618845
文献    
PMID:28792876 (HAAO KYNU)
  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
文献    
PMID:31883644 (NADSYN1)
  著者
Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL
  タイトル
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
  雑誌
Am J Hum Genet 106:129-136 (2020)
DOI:10.1016/j.ajhg.2019.12.006
LinkDB    

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