Congenital disorder of glycosylation, type iw, autosomal recessive

Preferred Label : Congenital disorder of glycosylation, type iw, autosomal recessive;

Symbol : CDG1WAR;

CISMeF acronym : CDG1W;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the STT3, subunit of the oligosaccharyltransferase complex, S. cerevisiae, homolog of, A gene (STT3A, 601134.0001);

Laboratory abnormalities : Abnormal glycosylation of serum transferrin, type 1 pattern; Incomplete N-glycosylation of cellular proteins;

Prefixed ID : #615596;

Details

Origin ID

615596;

UMLS CUI

C5561935;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1w (disorder) [SNOMED CT concept]
- STT3A-CDG [ORDO Disease]
- congenital disorder of glycosylation Iw [DO Concept]
DO Cross reference
- congenital disorder of glycosylation Iw [DO Concept]
Genes related to phenotype
- Oligosaccharyltransferase complex, catalytic subunit stt3a [OMIM gene]
HPO term(s)
- Abnormal glycosylation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- STT3A-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1w (disorder) [SNOMED CT concept]

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