Congenital disorder of glycosylation, type ih

Preferred Label : Congenital disorder of glycosylation, type ih;

Symbol : CDG1H;

CISMeF acronym : CDG1H;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIh; Cdg ih;

Description : CDGs, previously called carbohydrate-deficient glycoprotein syndromes, grew from 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 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 homolog of the S. cerevisiae ALG8 gene (ALG8, 608103.0001);

Laboratory abnormalities : Hypoalbuminemia; Electrolyte disturbances; Abnormal isoelectric focusing of serum transferrin, consistent with CDG type I; Hypoglycosylation of serum glycoproteins;

Prefixed ID : #608104;

Details

Origin ID

608104;

UMLS CUI

C2931002;

CISMeF manual mappings
- Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ALG8-CDG [ORDO Disease]
- Congenital disorder of glycosylation type 1H [MeSH concept]
- congenital disorder of glycosylation Ih [DO Concept]
- congenital disorder of glycosylation type 1H [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation Ih [DO Concept]
Genes related to phenotype
- Alg8 alpha-1,3-glucosyltransferase [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormal cardiac septum morphology [HPO term]
- Abnormal facial shape [HPO term]
- Abnormal heart morphology [HPO term]
- Abnormal isoelectric focusing of serum transferrin [HPO term]
- Anemia [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Cholestasis [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Decreased liver function [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hypertelorism [HPO term]
- Hypoalbuminemia [HPO term]
- Hypothyroidism [HPO term]
- Intrauterine growth retardation [HPO term]
- Large fontanelles [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Oligohydramnios [HPO term]
- Patent ductus arteriosus [HPO term]
- Protein-losing enteropathy [HPO term]
- Short neck [HPO term]
- Talipes equinovarus [HPO term]
- Thrombocytopenia [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- ALG8-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG8-CDG [ORDO Disease]
- Asparagine-linked glycosylation 8 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 1H [MeSH concept]
- congenital disorder of glycosylation type 1H [MeSH Supplementary Concept]

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