Congenital disorder of glycosylation, type II

Preferred Label : Congenital disorder of glycosylation, type II;

Symbol : CDG1I;

CISMeF acronym : CDG1I;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg II; CDGIi;

Inheritance : Autosomal recessive;

Molecular basis : Cause by mutation in the homolog of the S. cerevisiae ALG2 gene (ALG2, 607905.0001);

Laboratory abnormalities : Increased di- and asialo-transferrin characteristic of type 1 pattern;

Prefixed ID : #607906;

Détails

Origin ID

607906;

UMLS CUI

C1842836;

Automatic exact mappings (from CISMeF team)
- 2'-CDg [MeSH concept]
- Carbohydrate-Deficient Glycoprotein Syndrome [NCIt concept]
- SSR4-CDG [ORDO Disease]
- congenital disorder of glycosylation, type im [MeSH concept]
- congenital disorder of glycosylation, type im [MeSH Supplementary Concept]
- congenital disorder of glycosylation, type in [MeSH concept]
- congenital disorder of glycosylation, type in [MeSH Supplementary Concept]
- immunodeficiency 47 [DO Concept]
Currated CISMeF NLP mapping
- ALG2-CDG [ORDO Disease]
- Congenital disorder of glycosylation type 1I [MeSH Supplementary Concept]
- Congenital disorder of glycosylation type 1i (disorder) [SNOMED CT concept]
- Mannosyltransferase 2 deficiency [ICD-11 More detail]
- congenital disorder of glycosylation Ii [DO Concept]
- congenital disorder of glycosylation type II [Disease (Nov.)]
- congenital disorder of glycosylation type II [MeSH concept]
DO Cross reference
- congenital disorder of glycosylation Ii [DO Concept]
Genes related to phenotype
- Alg2 alpha-1,3/1,6-mannosyltransferase [OMIM gene]
HPO term(s)
- Abnormality of coagulation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Coloboma [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- Hyperreflexia [HPO term]
- Hypsarrhythmia [HPO term]
- Intellectual disability [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- ALG2-CDG [ORDO Disease]
See also inter- (CISMeF)
- ALG2 alpha-1,3/1,6-mannosyltransferase [ORDO Gene]
- ALG2 alpha-1,3/1,6-mannosyltransferase [HGNC gene]
- Carbohydrate-deficient glycoprotein syndrome type II (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type II [MeSH Supplementary Concept]
- congenital disorder of glycosylation type II [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALG2-CDG [ORDO Disease]
- Congenital disorder of glycosylation type 1I [MeSH Supplementary Concept]
- Congenital disorder of glycosylation type 1i (disorder) [SNOMED CT concept]
- congenital disorder of glycosylation type II [MeSH concept]
- congenital disorder of glycosylation type II [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients