Congenital disorder of glycosylation, type iy

Preferred Label : Congenital disorder of glycosylation, type iy;

Symbol : CDG1Y;

CISMeF acronym : CDG1Y;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cdg iy; CDGIy;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the signal sequence receptor, delta gene (SSR4, 300090.0001);

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

Prefixed ID : #300934;

Details

Origin ID

300934;

UMLS CUI

C4012395;

Automatic exact mappings (from CISMeF team)
- ALG2 alpha-1,3/1,6-mannosyltransferase [ORDO Gene]
- congenital disorder of glycosylation type II [MeSH Supplementary Concept]
- immunodeficiency 47 [DO Concept]
Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1y (disorder) [SNOMED CT concept]
- SSR4-CDG [ORDO Disease]
DO Cross reference
- congenital disorder of glycosylation Iy [DO Concept]
Genes related to phenotype
- Signal sequence receptor, delta [OMIM gene]
HPO term(s)
- Abnormality of coagulation [HPO term]
- Clinodactyly [HPO term]
- Congenital onset [HPO term]
- Deeply set eye [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Joint dislocation [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Respiratory distress [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Type I transferrin isoform profile [HPO term]
- Wide mouth [HPO term]
- Widely spaced teeth [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- SSR4-CDG [ORDO Disease]
See also inter- (CISMeF)
- ALG2-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1y (disorder) [SNOMED CT concept]
- SSR4-CDG [ORDO Disease]

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