Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of glycolipid metabolism (HP:0010969)help
Parent Node:
expandAbnormal glycosphingolipid metabolism (HP:0004343)help
..Starting node
..expandGanglioside accumulation (HP:0004345)help
Term ID: 4345
Name: Ganglioside accumulation
Synonym:
Definition: Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).
Comments:
Reference: HP:0004345
Genes and Diseases:
 
       Child Nodes:
........expandIncreased serum beta-hexosaminidase (HP:0003333) help
........expandGM2-ganglioside accumulation (HP:0003495) help

 Sister Nodes: 
..expandAbnormality of cerebrosidase metabolism (HP:0004344) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004345HP:0004345Ganglioside accumulation0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant69
HP:0004345HP:0004345Ganglioside accumulation0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV.78
HP:0004345HP:0004345Ganglioside accumulation0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040281 - Very frequent78
HP:0004345HP:0020160GM1-ganglioside accumulation1 CL E G H
HP:0004345HP:0003495GM2-ganglioside accumulation1GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69


Genes (2) :GM2A MCOLN1

Diseases (3) :OMIM:272750 OMIM:252650 ORPHA:578
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.