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Hyaluronidase deficiency

Disease definition

A rare form of mucopolysaccharidosis characterized by abnormal storage of hyaluronan in lysosomes due to deficiency of hyaluronidase 1. Clinical manifestations include knee and/or hip pain associated with swelling, diffuse joint involvement with proliferative synovitis and occurrence of multiple periarticular soft-tissue masses, short stature, and dysmorphic craniofacial features (such as flattened nasal bridge, bifid uvula, and cleft palate).

ORPHA:67041

Classification level: Disorder
  • Synonym(s):
    • MPS9
    • MPSIX
    • Mucopolysaccharidosis type 9
    • Mucopolysaccharidosis type IX
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E76.2
  • ICD-11: 5C56.3Y
  • OMIM: 601492
  • UMLS: C1291490
  • MeSH: C563209
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

Detailed information

General public

Guidelines

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM
ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.