Details of Disease | DrugMAP

General Information of Disease (ID: DISE7GM9)

Disease Name	GM1 gangliosidosis type 1
Synonyms	gangliosidosis generalised GM1 type 1; gangliosidosis, generalized GM1, infantile form; gangliosidosis generalized GM1 type 1; gangliosidosis generalized GM1 infantile form; gangliosidosis, generalized GM1, type 1; gangliosidosis, generalised GM1, type I, with Cardiac involvement; GM1-gangliosidosis, type I; Beta-galactosidase-1 deficiency; gangliosidosis generalised GM1 infantile form; gangliosidosis, generalized GM1, type I, with Cardiac involvement; GM1-gangliosidosis, type I, with Cardiac involvement; gangliosidosis, generalised GM1, type 1; GLB deficiency type 1; gangliosidosis, generalised GM1, infantile form; GM1-gangliosidosis, type 1; Beta galactosidase deficiency type 1; Glb1 deficiency; infantile GM1 gangliosidosis; Norman-Landing disease
Definition	GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.
Disease Hierarchy	DISN3L2M: GM1 gangliosidosis DISPGGVL: Syndromic dyslipidemia DISZHA63: Lysosomal storage disease with skeletal involvement DISE7GM9: GM1 gangliosidosis type 1
Disease Identifiers	MONDO ID MONDO_0009260 MESH ID D016537 UMLS CUI C0268271 OMIM ID 230500 MedGen ID 75665 Orphanet ID 79255 SNOMED CT ID 238026007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLB1	TTNGJPH	Strong	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLB1	OTB0TKAG	Strong	Autosomal recessive	[1]
TMPPE	OT0FTJKK	Strong	CausalMutation	[2]
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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	Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.Am J Hum Genet. 1994 Jun;54(6):1004-13.