Details of Disease

General Information of Disease (ID: DISIHYU4)

Disease Name Gangliosidosis
Definition
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
Disease Hierarchy
DISEC08E: Sphingolipidosis
DISIHYU4: Gangliosidosis
Disease Identifiers
MONDO ID
MONDO_0017719
MESH ID
D005733
UMLS CUI
C0017083
MedGen ID
42149
Orphanet ID
309144
SNOMED CT ID
50967008

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
HEXA TTJI5JW Disputed Genetic Variation [1]
GLB1 TTNGJPH moderate Genetic Variation [2]
HEXB TTKIBKM Strong Genetic Variation [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OGA OT7ZBWT1 Disputed Altered Expression [4]
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References

1 Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.Am J Med Genet A. 2004 Jun 1;127A(2):158-66. doi: 10.1002/ajmg.a.20633.
2 N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols: A new family of activity promotors for a G(M1)-gangliosidosis related human lysosomal -galactosidase mutant.Carbohydr Res. 2017 Apr 18;443-444:15-22. doi: 10.1016/j.carres.2017.03.009. Epub 2017 Mar 11.
3 Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.Clin Neurol Neurosurg. 2018 Apr;167:43-53. doi: 10.1016/j.clineuro.2018.02.011. Epub 2018 Feb 8.
4 Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant.Hum Gene Ther. 2001 Sep 20;12(14):1771-83. doi: 10.1089/104303401750476267.