Congenital disorder of glycosylation, type ir

Preferred Label : Congenital disorder of glycosylation, type ir;

Symbol : CDG1R;

CISMeF acronym : CDG1R;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIr; Cdg ir;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dolichyl-diphosphooligosaccharide-protein glycosyltransferase gene (DDOST, 602202.0001);

Laboratory abnormalities : Abnormal isoelectric focusing of serum transferrin (type 1 pattern);

Prefixed ID : #614507;

Details

Origin ID

614507;

UMLS CUI

C3281084;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1r (disorder) [SNOMED CT concept]
- DDOST-CDG [ORDO Disease]
- congenital disorder of glycosylation Ir [DO Concept]
DO Cross reference
- congenital disorder of glycosylation Ir [DO Concept]
Genes related to phenotype
- Dolichyl-diphosphooligosaccharide-protein glycosyltransferase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Constipation [HPO term]
- Decreased liver function [HPO term]
- Failure to thrive [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Recurrent ear infections [HPO term]
- Strabismus [HPO term]
- Type I transferrin isoform profile [HPO term]
ORDO concept(s)
- DDOST-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1r (disorder) [SNOMED CT concept]
- DDOST-CDG [ORDO Disease]

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