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Mucopolysaccharidosis type 4A

ORPHA:309297

Classification level: Subtype of disorder
  • Synonym(s):
    • GALNS deficiency
    • Galactosamine-6-sulfatase deficiency
    • MPS4A
    • MPSIVA
    • Morquio disease type A
    • Mucopolysaccharidosis type IVA
    • N-acetylgalactosamine-6-sulfate sulfatase deficiency
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E76.2
  • ICD-11: 5C56.32
  • OMIM: 253000
  • UMLS: C0086651
  • MeSH: -
  • GARD: 3785
  • MedDRA: -

Summary

This disease is described under Mucopolysaccharidosis type 4

Detailed information

General public

Guidelines

Disease review articles

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.