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GTR Home > Conditions/Phenotypes > Deficiency of hyaluronoglucosaminidase

Deficiency of hyaluronoglucosaminidase

Synonyms
HYALURONIDASE DEFICIENCY; MPS IX; Mucopolysaccharidosis Type IX; Mucopolysaccharidosis type 9
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mucopolysaccharidosis type IX (MPS9) is a rare progressive lysosomal storage disorder caused by the deficiency of the enzyme hyaluronoglucosaminidase-1, which degrades hyaluronan (summary by Imundo et al., 2011). [from OMIM]

Available tests

38 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (38 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HYAL-1, LUCA1, MPS9, NAT6, HYAL1
    Summary: hyaluronidase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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