ZFIN Human Disease: congenital disorder of glycosylation Ih

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:	GARD:9834 OMIM:608104 ORDO:79325
Ontology:	Human Disease ( DOID:0080560 )

Relationships

is a type of:	autosomal recessive disease congenital disorder of glycosylation type I autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

OTHER congenital disorder of glycosylation Ih PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ALG8	alg8	Congenital disorder of glycosylation, type Ih	608104

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None