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GM2 gangliosidosis, AB variant

Disease definition

GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.

ORPHA:309246

Classification level: Disorder
  • Synonym(s):
    • Hexosaminidase activator deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: E75.0
  • ICD-11: 5C56.00
  • OMIM: 272750
  • UMLS: C0268275
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016)

Detailed information

General public

Guidelines

Disease review articles

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.