Details of Disease

General Information of Disease (ID: DISS3EX6)

• Disease Name: GM1 gangliosidosis type 3
• Synonyms: GM1-gangliosidosis, type 3; gangliosidosis generalized GM1 chronic type; gangliosidosis, generalised GM1, type 3; gangliosidosis, generalized GM1, adult type; adult GM1 gangliosidosis; gangliosidosis generalised GM1 chronic type; Beta-galactosidase deficiency type 3; gangliosidosis, generalized GM1, chronic type; gangliosidosis GM1 type 3; gangliosidosis, generalised GM1, chronic type; gangliosidosis, generalized GM1, type 3; GM1-gangliosidosis, type III; gangliosidosis, generalised GM1, adult type; adult-onset GM1 gangliosidosis
• Definition: GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.
• Disease Hierarchy:
  DISN3L2M: GM1 gangliosidosis
  DISS3EX6: GM1 gangliosidosis type 3
• Disease Identifiers:
  MONDO ID: MONDO_0009262
  MESH ID: D016537
  UMLS CUI: C0268273
  OMIM ID: 230650
  MedGen ID: 78655
  Orphanet ID: 79257
  SNOMED CT ID: 238027003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLB1	TTNGJPH	Limited	Genetic Variation	[1]
GLB1	TTNGJPH	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLB1	OTB0TKAG	Definitive	Autosomal recessive	[2]

References

• [1] (5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal -galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.Eur J Med Chem. 2017 Jan 27;126:160-170. doi: 10.1016/j.ejmech.2016.09.095. Epub 2016 Sep 29.
• [2] GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient. Clin Genet. 1992 May;41(5):235-8. doi: 10.1111/j.1399-0004.1992.tb03672.x.