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ALG8-congenital disorder of glycosylation

^ http://purl.obolibrary.org/obo/MONDO_0011969

A form of congenital disorders of N-linked glycosylation 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. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. [ Orphanet:79325 ]

Term info

database cross reference
  • Orphanet:79325 (OMIM:608104)
  • GARD:0009834 (MONDO:equivalentTo)
  • SCTID:720977000 (MONDO:equivalentTo)
  • DOID:0080560 (MONDO:equivalentTo)
  • UMLS:C2931002 (Orphanet:79325)
  • OMIM:608104 (Orphanet:79325/e)
  • MESH:C535746 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
CDG1H [ Orphanet:79325 MONDO:Lexical OMIM:608104 ]

abbreviation
ALG8-CDG [ Orphanet:79325 ]

definition

A form of congenital disorders of N-linked glycosylation 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. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

exactMatch

http://identifiers.org/snomedct/720977000, http://identifiers.org/mesh/C535746, http://purl.obolibrary.org/obo/Orphanet_79325, http://purl.obolibrary.org/obo/DOID_0080560, http://linkedlifedata.com/resource/umls/id/C2931002, https://omim.org/entry/608104

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019743

has exact synonym

glucosyltransferase 2 deficiency, carbohydrate deficient glycoprotein syndrome type Ih, congenital disorder of glycosylation type 1h, CDG-Ih, ALG8-congenital disorder of glycosylation, CDG syndrome type Ih, congenital disorder of glycosylation type Ih, ALG8-CDG, CDG1H

has related synonym

CDG 1H, congenital disorder of glycosylation, type Ih, CDG Ih, ALG8-CDG (CDG-Ih)

id

MONDO:0011969