Vertebral, cardiac, renal, and limb defects syndrome 2

Preferred Label : Vertebral, cardiac, renal, and limb defects syndrome 2;

Symbol : VCRL2;

CISMeF acronym : VCRL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Congenital nad deficiency disorder 2; Kynureninase deficiency, complete;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kynureninase gene (KYNU, 605197.0003);

Laboratory abnormalities : Increased serum levels of 3-hydroxykynurenine (3HK); Decreased serum levels of nicotinamide adenine dinucleotide (NAD) and NAD(H);

Prefixed ID : #617661;

Détails

Origin ID

617661;

UMLS CUI

C4540014;

Genes related to phenotype
- Kynureninase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chronic kidney disease [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Hemivertebrae [HPO term]
- Hypoplastic left heart [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Narrow chest [HPO term]
- Patent ductus arteriosus [HPO term]
- Renal hypoplasia [HPO term]
- Rhizomelia [HPO term]
- Short stature [HPO term]
- Talipes [HPO term]
ORDO concept(s)
- Congenital vertebral-cardiac-renal anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients