Congenital disorder of glycosylation, type icc

Preferred Label : Congenital disorder of glycosylation, type icc;

Symbol : CDG1CC;

CISMeF acronym : CDG1CC;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the magnesium transporter 1 gene (MAGT1, 300715.0008);

Laboratory abnormalities : Type 1 pattern of abnormal serum transferrin isoelectric focusing consistent with a glycosylation defect;

Prefixed ID : #301031;

Details

Origin ID

301031;

UMLS CUI

C5231393;

Automatic exact mappings (from CISMeF team)
- congenital disorder of glycosylation Icc [DO Concept]
DO Cross reference
- congenital disorder of glycosylation Icc [DO Concept]
Genes related to phenotype
- Magnesium transporter 1 [OMIM gene]
HPO term(s)
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Intellectual disability [HPO term]
- Type I transferrin isoform profile [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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