Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of liposaccharide metabolism (HP:0010968)

Parent Node:
Abnormality of glycolipid metabolism (HP:0010969)

..Starting node
..Abnormal glycosphingolipid metabolism (HP:0004343)

Term ID:

4343

Name:

Abnormal glycosphingolipid metabolism

Synonym:

Abnormality of glycosphingolipid metabolism

Definition:

An abnormality of glycosphingolipid metabolism.

Comments:

Reference:

HP:0004343

Genes and Diseases:

Child Nodes:

........

Abnormality of cerebrosidase metabolism (HP:0004344)

................... HP:0003656 Decreased beta-glucocerebrosidase protein and activity

........

Abnormality of ganglioside metabolism (HP:0004345)

................... HP:0003333 Increased serum beta-hexosaminidase
................... HP:0003495 GM2-ganglioside accumulation

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004343	HP:0004343	Abnormal glycosphingolipid metabolism	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	253
HP:0004343	HP:0004343	Abnormal glycosphingolipid metabolism	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	253
HP:0004343	HP:0004343	Abnormal glycosphingolipid metabolism	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0004343	HP:0004343	Abnormal glycosphingolipid metabolism	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0004343	HP:0004343	Abnormal glycosphingolipid metabolism	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0004343	HP:0004343	Abnormal glycosphingolipid metabolism	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV		78
HP:0004343	HP:0004343	Abnormal glycosphingolipid metabolism	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV		78
HP:0004343	HP:0004343	Abnormal glycosphingolipid metabolism	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0004343	HP:0004343	Abnormal glycosphingolipid metabolism	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	81
HP:0004343	HP:0004343	Abnormal glycosphingolipid metabolism	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	81
HP:0004343	HP:0410368	Increased globoside Gb3 level	1	CL E G H
HP:0004343	HP:0410366	Increased globoside Gb4 level	1	CL E G H
HP:0004343	HP:0004344	Abnormality of cerebrosidase metabolism	1	CL E G H
HP:0004343	HP:0410370	Absence of ganglioside GM3	1	CL E G H
HP:0004343	HP:0033595	Elevated circulating globotriaosylceramide concentration	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0004343	HP:0004345	Ganglioside accumulation	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant		69
HP:0004343	HP:0004345	Ganglioside accumulation	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0004343	HP:0004345	Ganglioside accumulation	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent	78
HP:0004343	HP:0020160	GM1-ganglioside accumulation	2	CL E G H
HP:0004343	HP:0003495	GM2-ganglioside accumulation	2	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69

Genes (6) :ARSA GLA GM2A HEXB MCOLN1 PSAP

Diseases (8) :ORPHA:309271 ORPHA:309263 OMIM:301500 OMIM:272750 OMIM:268800 OMIM:252650 ORPHA:578 OMIM:611721

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

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