Details of Disease

General Information of Disease (ID: DISN3L2M)

Disease Name	GM1 gangliosidosis
Synonyms	GLB 1 deficiency; Beta galactosidase 1 deficiency; Beta-galactosidosis; Landing disease; Beta-galactosidase-1 deficiency; beta-galactosidase deficiency; gangliosidosis GM1; deficiency of beta-galactosidase; Landing syndrome; GLB1 deficiency; Beta-galactosidase deficiency; GM>1< gangliosidosis
Disease Class	5C56: Lysosomal disease
Definition	A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
Disease Hierarchy	DISIHYU4: Gangliosidosis DISB52BH: Eye disorder DISE1F82: Bone disease DISN3L2M: GM1 gangliosidosis
ICD Code	ICD-11 ICD-11: 5C56.00
Disease Identifiers	MONDO ID MONDO_0018149 MESH ID D016537 UMLS CUI C0085131 MedGen ID 43107 Orphanet ID 354 SNOMED CT ID 238025006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AXO-AAV-GM1	DMFBMI7	Phase 1/2	Gene therapy	[1]
LYS-GM-101	DMPD79C	Phase 1/2	Gene therapy	[2]
PBGM01	DMNJEGV	Phase 1/2	Gene therapy	[3]
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This Disease is Treated as An Indication in 2 Preclinical Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
5N,6S-(N'-butyliminomethylidene)-6-thio-1-deoxygalactonojirimycin	DM7RHOC	Preclinical	Small molecular drug	[4]
N-Octyl-4-epi-beta-valienamine	DMTQ2UD	Preclinical	Small molecular drug	[4]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CTSA	TT5NILS	Strong	Genetic Variation	[5]
SGCG	TTSMT9W	Strong	Genetic Variation	[6]
GLB1	TTNGJPH	Definitive	Autosomal recessive	[7]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB7	DT2IMBW	Definitive	Altered Expression	[8]
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This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TMPPE	OT0FTJKK	Limited	CausalMutation	[9]
NEU1	OTH9BY8Y	Strong	Biomarker	[10]
CYP2U1	OT6RXLXS	Definitive	Genetic Variation	[11]
DDHD2	OTUP0WHF	Definitive	Genetic Variation	[11]
GLB1	OTB0TKAG	Definitive	Autosomal recessive	[7]
PEX16	OTJQJ2TZ	Definitive	Biomarker	[11]
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⏷ Show the Full List of 6 DOT(s)

References

1	Clinical pipeline report, company report or official report of Axovant Gene Therapies
2	ClinicalTrials.gov (NCT04273269) An Open-Label Adaptive-Design Study of Intracisternal Adenoassociated Viral Vector Serotype rh.10 Carrying the Human beta-Galactosidase cDNA for Treatment of GM1 Gangliosidosis. U.S.National Institutes of Health.
3	ClinicalTrials.gov (NCT04713475) Phase 1/2 Open-Label, Multicenter Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of PBGM01 Delivered Into the Cisterna Magna of Pediatric Type 1 (Early Onset) and Type 2a (Late Onset) Infantile GM1 Gangliosidosis. U.S.National Institutes of Health.
4	Lysosomes as a therapeutic target. Nat Rev Drug Discov. 2019 Dec;18(12):923-948.
5	Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.Clin Genet. 2012 Apr;81(4):379-93. doi: 10.1111/j.1399-0004.2011.01625.x. Epub 2011 Mar 1.
6	Carrier rates of four single-gene disorders in Croatian Bayash Roma.Genet Test Mol Biomarkers. 2014 Feb;18(2):83-7. doi: 10.1089/gtmb.2013.0323. Epub 2013 Nov 4.
7	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.
8	The Clinical and Molecular Spectrum of GM1 Gangliosidosis.J Pediatr. 2019 Dec;215:152-157.e3. doi: 10.1016/j.jpeds.2019.08.016.
9	Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.Am J Med Genet A. 2018 Jan;176(1):230-234. doi: 10.1002/ajmg.a.38549. Epub 2017 Nov 21.
10	Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.Biochem Biophys Res Commun. 2015 Feb 20;457(4):554-60. doi: 10.1016/j.bbrc.2015.01.023. Epub 2015 Jan 16.
11	Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.Neurogenetics. 2016 Oct;17(4):265-270. doi: 10.1007/s10048-016-0495-z. Epub 2016 Sep 28.