Details of Disease

General Information of Disease (ID: DISYMW73)

• Disease Name: GM1 gangliosidosis type 2
• Synonyms: GM1-gangliosidosis, type 2; gangliosidosis, generalized GM1, type 2; gangliosidosis generalized GM1 juvenile type; gangliosidosis, generalized GM1, late-infantile type; gangliosidosis generalised GM1 type 2; gangliosidosis, generalised GM1, juvenile type; gangliosidosis, generalised GM1, late-infantile type; gangliosidosis, generalized GM1, juvenile type; gangliosidosis generalised GM1 juvenile type; gangliosidosis generalized GM1 type 2; GM1-gangliosidosis, type II; gangliosidosis, generalised GM1, type 2; late-infantile GM1 gangliosidosis; juvenile GM1 gangliosidosis
• Definition: GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.
• Disease Hierarchy:
  DISN3L2M: GM1 gangliosidosis
  DISYMW73: GM1 gangliosidosis type 2
• Disease Identifiers:
  MONDO ID: MONDO_0009261
  MESH ID: D016537
  UMLS CUI: C0268272
  OMIM ID: 230600
  MedGen ID: 120625
  Orphanet ID: 79256
  SNOMED CT ID: 18756002

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	Strong	Autosomal recessive	[1]
GLB1	TTNGJPH	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLB1	OTB0TKAG	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.Mol Genet Genomic Med. 2018 Nov;6(6):1229-1235. doi: 10.1002/mgg3.454. Epub 2018 Sep 5.