Details of Disease | DrugMAP

General Information of Disease (ID: DISAFK7V)

Disease Name	B4GALT1-congenital disorder of glycosylation
Synonyms	CDG 2D; B4GALT1-CDG (CDG-IId); congenital disorder of glycosylation, type IId; CDG IId; carbohydrate deficient glycoprotein syndrome type IId; congenital disorder of glycosylation type 2d; CDG-IId; CDG2D; congenital disorder of glycosylation type IId; B4GALT1-congenital disorder of glycosylation; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; B4GALT1-CDG
Definition	B4GALT1-CDG is a congenital disorder of glycosylation characterized by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISO85MT: Disorder of multiple glycosylation DISD715V: Hereditary neurological disease DISMFQKM: Developmental anomaly of metabolic origin DISOV08L: Central nervous system malformation DISEMWE1: Congenital disorder of glycosylation type II DISAFK7V: B4GALT1-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0011772 MESH ID C535753 UMLS CUI C2931009 OMIM ID 607091 MedGen ID 419310 Orphanet ID 79332 SNOMED CT ID 725587007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
B4GALT7	DEKRS6L	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
B4GALT1	OTBCXEK7	Strong	Autosomal recessive	[2]
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References

1	Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest. 2002 Mar;109(6):725-33. doi: 10.1172/JCI14010.
2	B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. J Pediatr. 2011 Dec;159(6):1041-3.e2. doi: 10.1016/j.jpeds.2011.08.007. Epub 2011 Sep 13.