Congenital disorder of glycosylation, type iid

Preferred Label : Congenital disorder of glycosylation, type iid;

Symbol : CDG2D;

CISMeF acronym : CDG IID; CDG2D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIId; Cdg iid;

Description : Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. For a general discussion of CDGs, see CDG1A (212065).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-1,4-galactosyltransferase gene (B4GALT1, 137060.0001).;

Laboratory abnormalities : Elevated creatine kinase; Prolonged activated partial prothrombin time (aPPT); Abnormal serum transferrin pattern by isoelectric focusing (hyposialylation);

Prefixed ID : #607091;

Details

Origin ID

607091;

UMLS CUI

C2931009;

Automatic exact mappings (from CISMeF team)
- B4GALT1 wt Allele [NCIt concept]
- congenital disorder of glycosylation type IIe [DO Concept]
Currated CISMeF NLP mapping
- B4GALT1-CDG [ORDO Disease]
- Beta-1,4-galactosyltransferase deficiency [ICD-11 More detail]
- Carbohydrate deficient glycoprotein syndrome type 2d (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 2D [MeSH concept]
- congenital disorder of glycosylation type 2D [MeSH Supplementary Concept]
- congenital disorder of glycosylation type IId [Disease (Nov.)]
- congenital disorder of glycosylation type IId [DO Concept]
- congenital disorder of glycosylation, type IIID [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation type IId [DO Concept]
Genes related to phenotype
- Beta-1,4-galactosyltransferase 1 [OMIM gene]
HPO term(s)
- Abnormality of coagulation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dandy-Walker malformation [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Macrocephaly [HPO term]
- Myopathy [HPO term]
ORDO concept(s)
- B4GALT1-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- B4GALT1-CDG [ORDO Disease]
- Carbohydrate deficient glycoprotein syndrome type 2d (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 2D [MeSH concept]
- congenital disorder of glycosylation type 2D [MeSH Supplementary Concept]
- congenital disorder of glycosylation type IId [Disease (Nov.)]
- congenital disorder of glycosylation type IId [DO Concept]
- congenital disorder of glycosylation, type IIID [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type IIID [MeSH concept]

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