Congenital disorder of glycosylation, type ij

Preferred Label : Congenital disorder of glycosylation, type ij;

Symbol : CDG1J;

CISMeF acronym : CDG1J;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDGIj; Cdg ij;

Description : Like all CDGs, which are caused by a shortage of precursor monosaccharide phosphate or deficiencies in the glycosyltransferases required for lipid-linked oligosaccharide precursor (LLO) synthesis, CDG Ij is caused by a defect in the formation of DPAGT1, the first dolichyl-linked intermediate of the protein N-glycosylation pathway. For a general discussion of CDGs, see CDG1A (212065).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dolichyl-phosphate N-acetylglucosamine phosphotransferase gene (DPAGT1, 191350.0001);

Laboratory abnormalities : Abnormal liver enzymes (in 1 patient); Hypoproteinemia (in 1 patient); Abnormal isoelectric focusing of serum transferrin (type 1 pattern);

Prefixed ID : #608093;

Details

Origin ID

608093;

UMLS CUI

C2931004;

Automatic exact mappings (from CISMeF team)
- dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital Disorder of Glycosylation Type Ij [NCIt concept]
- Congenital disorder of glycosylation type 1J [MeSH concept]
- Congenital disorder of glycosylation type 1j (disorder) [SNOMED CT concept]
- DPAGT1-CDG [ORDO Disease]
- Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency [ICD-11 More detail]
- congenital disorder of glycosylation type 1J [MeSH Supplementary Concept]
DO Cross reference
- congenital disorder of glycosylation Ij [DO Concept]
Genes related to phenotype
- Dolichyl-phosphate n-acetylglucosamine phosphotransferase [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Elevated hepatic transaminase [HPO term]
- Exotropia [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypoproteinemia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Inverted nipples [HPO term]
- Jaundice [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Nystagmus [HPO term]
- Reduced antithrombin III activity [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Single transverse palmar crease [HPO term]
- Skin dimple [HPO term]
- Tremor [HPO term]
- Type I transferrin isoform profile [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- DPAGT1-CDG [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Disorder of Glycosylation Type Ij [NCIt concept]
- Congenital disorder of glycosylation type 1J [MeSH concept]
- Congenital disorder of glycosylation type 1j (disorder) [SNOMED CT concept]
- DPAGT1-CDG [ORDO Disease]
- congenital disorder of glycosylation type 1J [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- congenital disorder of glycosylation [Disease (Nov.)]

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