Details of Disease | DrugMAP

General Information of Disease (ID: DISFXAD6)

Disease Name	TMEM199-CDG
Synonyms	CDG IIp; congenital disorder of glycosylation, type IIp; CDG syndrome type IIp; carbohydrate deficient glycoprotein syndrome type IIp; CDG2P; congenital disorder of glycosylation type IIp; CDG-IIp; congenital disorder of glycosylation type 2p
Disease Hierarchy	DISO85MT: Disorder of multiple glycosylation DISEMWE1: Congenital disorder of glycosylation type II DISFXAD6: TMEM199-CDG
Disease Identifiers	MONDO ID MONDO_0014790 UMLS CUI C4225190 OMIM ID 616829 MedGen ID 895025 Orphanet ID 466703 SNOMED CT ID 1208738002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TMEM199	OTU1GZOY	Strong	Autosomal recessive	[1]
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References

1	TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.