Congenital disorder of glycosylation, type iiaa

Preferred Label : Congenital disorder of glycosylation, type iiaa;

Symbol : CDG2AA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg iiaa; CDGIIAA;

Prefixed ID : #620454;

Details

Origin ID

620454;

UMLS CUI

C5830651;

Genes related to phenotype
- Syntaxin 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Biliary cirrhosis [HPO term]
- Cholestasis [HPO term]
- Congenital onset [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Elevated circulating aspartate aminotransferase concentration [HPO term]
- Hepatic failure [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hydronephrosis [HPO term]
- Hyperammonemia [HPO term]
- Hypercholesterolemia [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Knee flexion contracture [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Nodular regenerative hyperplasia of liver [HPO term]
- Patent ductus arteriosus after premature birth [HPO term]
- Persistent patent ductus venosus [HPO term]
- Reduced antithrombin III activity [HPO term]
- Reduced protein C activity [HPO term]
- Short long bone [HPO term]
- Unilateral renal agenesis [HPO term]
- Ventricular septal defect [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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