Details of Disease | DrugMAP

General Information of Disease (ID: DISH0T2X)

Disease Name	SLC35A1-congenital disorder of glycosylation
Synonyms	congenital disorder of glycosylation, type IIf; CDG IIf; SLC35A1-CDG (CDG-IIf); CDG-IIf; carbohydrate deficient glycoprotein syndrome type IIf; congenital disorder of glycosylation type 2f; CDG2F; SLC35A1-CDG; CDG syndrome type IIf; congenital disorder of glycosylation type IIf; SLC35A1-congenital disorder of glycosylation; CMP-sialic acid transporter deficiency
Definition	SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.
Disease Hierarchy	DISO85MT: Disorder of multiple glycosylation DISEMWE1: Congenital disorder of glycosylation type II DISH0T2X: SLC35A1-congenital disorder of glycosylation
Disease Identifiers	MONDO ID MONDO_0011342 MESH ID C567040 UMLS CUI C1970344 OMIM ID 603585 MedGen ID 370234 Orphanet ID 238459 SNOMED CT ID 723624008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35A1	DTVZIRG	Strong	Autosomal recessive	[1]
SLC35A1	DTVZIRG	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC35A1	OTPWOOVA	Strong	Autosomal recessive	[1]
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References

1	Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. Blood. 2005 Apr 1;105(7):2671-6. doi: 10.1182/blood-2004-09-3509. Epub 2004 Dec 2.
2	A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.Haematologica. 2018 Dec;103(12):e613-e617. doi: 10.3324/haematol.2018.198028. Epub 2018 Aug 16.