Congenital disorder of glycosylation, type ik

Preferred Label : Congenital disorder of glycosylation, type ik;

Symbol : CDG1K;

CISMeF acronym : CDG1K;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg ik; CDGIk;

Description : Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor and mental retardation. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. Type II CDG comprises all defects of further trimming and elongation of N-linked oligosaccharides in the ER and Golgi (Schwarz et al., 2004). For a general discussion of CDGs, see CDG1A (212065).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-1,4-mannosyltransferase gene (ALG1, 605907.0001);

Laboratory abnormalities : Isoelectric focusing of serum transferrin consistent with CDG type I; Severely decreased activity of beta-1,4-mannosyltransferase (less than 10% of normal);

Prefixed ID : #608540;

Details

Origin ID

608540;

UMLS CUI

C2931005;

CISMeF manual mappings
- Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- ALG1-CDG [ORDO Disease]
- Congenital disorder of glycosylation type 1K [MeSH concept]
- congenital disorder of glycosylation Ik [DO Concept]
- congenital disorder of glycosylation type 1K [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation Ik [DO Concept]
Genes related to phenotype
- Alg1 chitobiosyldiphosphodolichol beta-mannosyltransferase [OMIM gene]
HPO term(s)
- Abnormality of the amniotic fluid [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cerebral atrophy [HPO term]
- Death in infancy [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hypertelorism [HPO term]
- Hypogonadism [HPO term]
- Hypotonia [HPO term]
- Intrauterine growth retardation [HPO term]
- Large fontanelles [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Psychomotor retardation [HPO term]
- Seizure [HPO term]
- Splenomegaly [HPO term]
- Thin vermilion border [HPO term]
- Type I transferrin isoform profile [HPO term]
ORDO concept(s)
- ALG1-CDG [ORDO Disease]
See also inter- (CISMeF)
- ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [ORDO Gene]
- ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [HGNC gene]
- Congenital Disorder of Glycosylation Type Ic [NCIt concept]
- Congenital disorder of glycosylation type 1c (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG1-CDG [ORDO Disease]
- Asparagine-linked glycosylation 1 congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Congenital disorder of glycosylation type 1K [MeSH concept]
- congenital disorder of glycosylation type 1K [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- congenital disorder of glycosylation [Disease (Nov.)]

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