Details of Disease | DrugMAP

General Information of Disease (ID: DISTGKN8)

Disease Name	ALG9-congenital disorder of glycosylation
Synonyms	congenital disorder of glycosylation type IL; CDG IL; carbohydrate deficient glycoprotein syndrome type IL; ALG9-CDG (CDG-IL); congenital disorder of glycosylation, type IL; CDG 1L; mannosyltransferase 7-9 deficiency; carbohydrate deficient glycoprotein syndrome type 1L; CDG1L; CDG syndrome type IL; CDG-IL; congenital disorder of glycosylation type 1L; ALG9-congenital disorder of glycosylation; ALG9-CDG
Definition	A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).
Disease Hierarchy	DISBHHT1: Congenital disorder of glycosylation type I DIST8BQR: Disorder of protein N-glycosylation DISTGKN8: ALG9-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0012117 MESH ID C535750 UMLS CUI C2931006 OMIM ID 608776 MedGen ID 443955 Orphanet ID 79328 SNOMED CT ID 720978005

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
ALG9	OT5V9PIR	Strong	Autosomal recessive	[1]
ATP6V0A2	OTJBDX0Y	Strong	CausalMutation	[2]
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References

1	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.
2	Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25.