Search for a rare disease
Other search option(s)
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
- 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
- Article for general public
- English (2010) - Socialstyrelsen
- Svenska (2016) - Socialstyrelsen
Guidelines
- Emergency guidelines
- Français (2013, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Français (2021) - PNDS
Disease review articles
- Clinical genetics review
- English (2022) - GeneReviews


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.