Congenital disorder of glycosylation, type iir

Preferred Label : Congenital disorder of glycosylation, type iir;

Symbol : CDG2R;

CISMeF acronym : CDG2R;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg iir; CDGIIR;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the ATPase, H transporting, lysosomal, accessory protein 2 (ATP6AP2, 300556.0004);

Laboratory abnormalities : Decreased levels of tetrasialotransferrin; Increased levels of mono-, di-, and trisialotransferrin; Abnormal glycosylation of serum transferrin, type 2 pattern;

Prefixed ID : #301045;

Details

Origin ID

301045;

UMLS CUI

C5393313;

Automatic exact mappings (from CISMeF team)
- ATP6AP2 wt Allele [NCIt concept]
Genes related to phenotype
- Atpase, h+ transporting, lysosomal, accessory protein 2 [OMIM gene]
HPO term(s)
- Ascites [HPO term]
- Cutis laxa [HPO term]
- Decreased circulating antibody level [HPO term]
- Decreased liver function [HPO term]
- Decreased proportion of CD4-positive T cells [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hypospadias [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Micronodular cirrhosis [HPO term]
- Recurrent infections [HPO term]
- Type II transferrin isoform profile [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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