Details of Disease | DrugMAP

General Information of Disease (ID: DISIK17Y)

Disease Name	ALG8-congenital disorder of glycosylation
Synonyms	CDG Ih; ALG8-CDG (CDG-Ih); congenital disorder of glycosylation, type Ih; CDG 1H; ALG8-congenital disorder of glycosylation; glucosyltransferase 2 deficiency; congenital disorder of glycosylation type Ih; carbohydrate deficient glycoprotein syndrome type Ih; CDG1H; ALG8-CDG; congenital disorder of glycosylation type 1h; CDG syndrome type Ih; CDG-Ih
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.
Disease Hierarchy	DISBHHT1: Congenital disorder of glycosylation type I DIST8BQR: Disorder of protein N-glycosylation DISIK17Y: ALG8-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0011969 MESH ID C535746 UMLS CUI C2931002 OMIM ID 608104 MedGen ID 419692 Orphanet ID 79325 SNOMED CT ID 720977000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAN1A1	OT6LIGJP	Strong	Biomarker	[1]
ALG8	OTMFG2YY	Definitive	Autosomal recessive	[2]
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References

1	A new case of ALG8 deficiency (CDG Ih).J Inherit Metab Dis. 2009 Dec;32 Suppl 1. doi: 10.1007/s10545-009-1203-z. Epub 2009 Aug 18.
2	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.