Details of Disease

General Information of Disease (ID: DISSA3IU)

• Disease Name: Tay-Sachs disease AB variant
• Synonyms: Tay-Sachs disease, AB variant; GM2 gangliosidosis, AB variant; GM2 activator deficiency; GM2-gangliosidosis, AB variant; Ab variant GM2-gangliosidosis; Tay-Sachs disease, variant AB; hexosaminidase activator deficiency
• Definition: GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.
• Disease Hierarchy:
  DISPT716: GM2 gangliosidosis
  DISSA3IU: Tay-Sachs disease AB variant
• Disease Identifiers:
  MONDO ID: MONDO_0010099
  MESH ID: D049290
  UMLS CUI: C0268275
  OMIM ID: 272750
  MedGen ID: 78657
  Orphanet ID: 309246
  SNOMED CT ID: 71253000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HEXA	TTJI5JW	Limited	Genetic Variation	[1]
HEXB	TTKIBKM	Limited	Genetic Variation	[1]
GM2A	TTGOFW6	Strong	Biomarker	[2]
GM2A	TTGOFW6	Definitive	Autosomal recessive	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GM2A	OTIRWZC0	Definitive	Autosomal recessive	[3]

References

• [1] The GM2 gangliosidoses databases: allelic variation at the HEXA, HEXB, and GM2A gene loci.Genet Med. 2000 Nov-Dec;2(6):319-27. doi: 10.1097/00125817-200011000-00003.
• [2] Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.