Congenital disorder of glycosylation, type ix

Preferred Label : Congenital disorder of glycosylation, type ix;

Symbol : CDG1X;

CISMeF acronym : CDG IX; CDG1X;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIx; Cdg ix;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the STT3, subunit of the oligosaccharyltransferase complex, S. cerevisiae, homolog of, B gene (STT3B, 608605.0001);

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

Prefixed ID : #615597;

Details

Origin ID

615597;

UMLS CUI

C2931007;

Currated CISMeF NLP mapping
- Congenital disorder of glycosylation type 1X [MeSH concept]
- Congenital disorder of glycosylation type 1x (disorder) [SNOMED CT concept]
- STT3B-CDG [ORDO Disease]
- congenital disorder of glycosylation Ix [DO Concept]
- congenital disorder of glycosylation type 1X [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation Ix [DO Concept]
Genes related to phenotype
- Oligosaccharyltransferase complex, catalytic subunit stt3b [OMIM gene]
HPO term(s)
- Abnormal glycosylation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cryptorchidism [HPO term]
- Death in childhood [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Fetal onset [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intrauterine growth retardation [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Optic atrophy [HPO term]
- Respiratory distress [HPO term]
- Seizure [HPO term]
- Small scrotum [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- STT3B-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital disorder of glycosylation type 1X [MeSH concept]
- Congenital disorder of glycosylation type 1x (disorder) [SNOMED CT concept]
- STT3B-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1X [MeSH Supplementary Concept]

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