OBO ID: DOID:0080560
Term Name: congenital disorder of glycosylation Ih Search Ontology:
Synonyms:
  • congenital disorder of glycosylation 1h
Definition: A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. https://www.ncbi.nlm.nih.gov/pubmed/28108845
References:
Ontology: Human Disease   (DOID:0080560)
OTHER congenital disorder of glycosylation Ih PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALG8 Congenital disorder of glycosylation, type Ih 608104
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None