Details of Disease | DrugMAP

General Information of Disease (ID: DISFSB6J)

Disease Name	Mucopolysaccharidosis type 9
Synonyms	mucopolysaccharidosis, type IX; hyaluronidase deficiency; mucopolysaccharidosis IX; MPS 9; mucopolysaccharidosis, type 9; mucopolysaccharidosis type IX; MPS9; mucopolysaccharidosis type 9; MPSIX
Definition	An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.
Disease Hierarchy	DISE1F82: Bone disease DISB083T: Mucopolysaccharidosis DISFSB6J: Mucopolysaccharidosis type 9
Disease Identifiers	MONDO ID MONDO_0011093 MESH ID C563209 UMLS CUI C1291490 OMIM ID 601492 MedGen ID 226942 Orphanet ID 67041 SNOMED CT ID 124473006

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
HYAL2	OTTVINXW	Strong	Biomarker	[1]
HYAL1	OT2SJN0X	Definitive	Autosomal recessive	[2]
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References

1	Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci U S A. 1999 May 25;96(11):6296-300. doi: 10.1073/pnas.96.11.6296.
2	Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med. 1996 Oct 3;335(14):1029-33. doi: 10.1056/NEJM199610033351405.