Vertebral, cardiac, renal, and limb defects syndrome 1

Preferred Label : Vertebral, cardiac, renal, and limb defects syndrome 1;

Symbol : VCRL1;

CISMeF acronym : VCRL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Congenital nad deficiency disorder 1; 3-hydroxyanthranilic acidemia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-alpha-hydroxyanthranilate 3,4-dioxygenase gene (HAAO, 604521.0001);

Laboratory abnormalities : Decreased serum levels of nicotinaminde adenine dinucleotide (NAD) and NAD(H); Increased serum levels of 3-hydroxyanthranilic acid (3HAA);

Prefixed ID : #617660;

Details

Origin ID

617660;

UMLS CUI

C4540004;

Genes related to phenotype
- 3-hydroxyanthranilate 3,4-dioxygenase [OMIM gene]
HPO term(s)
- Absence of the sacrum [HPO term]
- Aortic valve stenosis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Butterfly vertebrae [HPO term]
- Cleft palate [HPO term]
- Global developmental delay [HPO term]
- Hypoplastic left heart [HPO term]
- Hypoplastic sacrum [HPO term]
- Intellectual disability [HPO term]
- Laryngeal web [HPO term]
- Laryngotracheomalacia [HPO term]
- Microcephaly [HPO term]
- Mitral stenosis [HPO term]
- Renal hypoplasia [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Spinal dysraphism [HPO term]
- Talipes [HPO term]
- Tethered cord [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Congenital vertebral-cardiac-renal anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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