KEGG   DISEASE: Vertebral, cardiac, renal, and limb defects syndrome
Entry
H02087                      Disease                                

Name
Vertebral, cardiac, renal, and limb defects syndrome;
Congenital NAD deficiency disorder
Description
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.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H02087  Vertebral, cardiac, renal, and limb defects syndrome
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
    H02087  Vertebral, cardiac, renal, and limb defects syndrome
Gene
HAAO [HSA:23498] [KO:K00452]
KYNU [HSA:8942] [KO:K01556]
Other DBs
ICD-11: LD2F.1Y
ICD-10: E70.8
OMIM: 617660 617661
Reference
  Authors
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
  Title
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
  Journal
N Engl J Med 377:544-552 (2017)
DOI:10.1056/NEJMoa1616361

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