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mucopolysaccharidosis IV

Summary

Synonym

Mucopolysaccharidosis, MPS-IV
deficiency of N-acetylgalactosamine-6-sulphatase
deficiency of chondroitinsulphatase
galactosamine-6-sulfatase deficiency

Definition

A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.

Super Class

mucopolysaccharidosis

External Links

Disease Ontology

DOID:12804

MeSH

D009085

UMLS

C0026707

NCI Thesaurus

C61263

MGI genotype (from TogoID)

Related Genes

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Gene ID	Gene Symbol	Description	Source
138050	HGSNAT	heparan-alpha-glucosaminide N-acetyltransferase	DisGeNET DisGeNET DisGeNET
159371	SLC35G1	solute carrier family 35 member G1	DisGeNET
285362	SUMF1	sulfatase modifying factor 1	DisGeNET DisGeNET DisGeNET
347527	ARSH	arylsulfatase family member H	DisGeNET DisGeNET

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
12091	Glb1	galactosidase, beta 1	Alliance of Genome Resources

Related Glycoprotein

Displaying entries **1 - 10** of 59 in total

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UniProt ID	Protein Name	Source
O00754	Lysosomal alpha-mannosidase	DisGeNET
O43909	Exostosin-like 3	DisGeNET DisGeNET
O43916	Carbohydrate sulfotransferase 1	DisGeNET
O60243	Heparan-sulfate 6-O-sulfotransferase 1	DisGeNET
O60502	Protein O-GlcNAcase	DisGeNET
O94766	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3	DisGeNET
O95340	Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2	DisGeNET
O95394	Phosphoacetylglucosamine mutase	DisGeNET
P04040	Catalase	DisGeNET
P04066	Tissue alpha-L-fucosidase	DisGeNET