Degradation pathway of sphingolipids, including diseases

Pathway network for the Degradation pathway of sphingolipids, including diseases SuperPath

Sources:

WikiPathways
Reactome

Pathways in the Degradation pathway of sphingolipids, including diseases SuperPath

#	Name	Source	Genes
1	Degradation pathway of sphingolipids, including diseases	WikiPathways	GALC GBA1 GLB1 HEXA HEXB LIPA NEU1 NEU2 NEU3 NEU4 NPC1 NPC2 PSAP SCARB2 (see all 14) (see less)
2	Defective HEXB causes GM2G2 (Hyaluronan metabolism)	Reactome	HEXB
3	Defective HEXA causes GM2G1 (Hyaluronan metabolism)	Reactome	HEXA

Gene overlap in member pathways for Degradation pathway of sphingolipids, including diseases SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	HEXB	Hexosaminidase Subunit Beta	Protein Coding	2
2	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	2
3	GALC	Galactosylceramidase	Protein Coding	1
4	GBA1	Glucosylceramidase Beta 1	Protein Coding	1
5	NEU1	Neuraminidase 1	Protein Coding	1
6	NEU4	Neuraminidase 4	Protein Coding	1
7	NEU2	Neuraminidase 2	Protein Coding	1
8	NEU3	Neuraminidase 3	Protein Coding	1
9	SCARB2	Scavenger Receptor Class B Member 2	Protein Coding	1
10	PSAP	Prosaposin	Protein Coding	1
11	NPC1	NPC Intracellular Cholesterol Transporter 1	Protein Coding	1
12	LIPA	Lipase A, Lysosomal Acid Type	Protein Coding	1
13	GLB1	Galactosidase Beta 1	Protein Coding	1
14	NPC2	NPC Intracellular Cholesterol Transporter 2	Protein Coding	1

Disorders associated with Degradation pathway of sphingolipids, including diseases SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Gm2 gangliosidosis	Direct
2	Gm1 gangliosidosis	Direct
3	Niemann-pick disease, type c2	Enrichment	NPC1, NPC2	6.00
4	Niemann-pick disease type c, severe perinatal form	Enrichment	NPC1, NPC2	6.00
5	Niemann-pick disease type c, severe early infantile neurologic onset	Enrichment	NPC1, NPC2	6.00
6	Niemann-pick disease type c, juvenile neurologic onset	Enrichment	NPC1, NPC2	6.00
7	Niemann-pick disease type c, adult neurologic onset	Enrichment	NPC1, NPC2	6.00
8	Niemann-pick disease type c, late infantile neurologic onset	Enrichment	NPC1, NPC2	6.00
9	Krabbe disease	Enrichment	GALC, PSAP	5.23
10	Gaucher disease, type i	Enrichment	GBA1, SCARB2	5.23
11	Niemann-pick disease, type c1	Enrichment	NPC1, NPC2	5.01
12	Niemann-pick disease	Enrichment	NPC1, NPC2	5.01
13	Parkinson's disease	Enrichment	GBA1, PSAP	3.78
14	Leukodystrophy	Enrichment	GALC, HEXA	3.73
15	Parkinson disease, late-onset	Enrichment	GBA1, PSAP	3.57
16	Metachromatic leukodystrophy due to saposin b deficiency	Enrichment	PSAP	2.99
17	Neuraminidase deficiency	Enrichment	NEU1	2.99
18	Sandhoff disease	Enrichment	HEXB	2.99
19	Cholesteryl ester storage disease	Enrichment	LIPA	2.99
20	Parkinson disease 24, autosomal dominant	Enrichment	PSAP	2.99
21	Gaucher disease, atypical, due to saposin c deficiency	Enrichment	PSAP	2.99
22	Wolman disease	Enrichment	LIPA	2.99
23	Krabbe disease, atypical, due to saposin a deficiency	Enrichment	PSAP	2.99
24	Lysosomal acid lipase deficiency	Enrichment	LIPA	2.99
25	Glb1-related disorders	Enrichment	GLB1	2.99
26	Spastic ataxia	Enrichment	GALC, GLB1	2.88
27	Gaucher disease, type iiic	Enrichment	GBA1	2.69
28	Gaucher disease, perinatal lethal	Enrichment	GBA1	2.69
29	Gaucher disease, type iii	Enrichment	GBA1	2.69
30	Gm2-gangliosidosis, ab variant	Enrichment	HEXA	2.69
31	Combined saposin deficiency	Enrichment	PSAP	2.69
32	Combined psap deficiency	Enrichment	PSAP	2.69
33	Status epilepticus	Enrichment	GALC	2.69
34	Glycoproteinosis	Enrichment	NEU1	2.69
35	Gm1-gangliosidosis, type i	Enrichment	GLB1	2.51
36	Mucopolysaccharidosis, type ivb	Enrichment	GLB1	2.51
37	Gaucher disease, type ii	Enrichment	GBA1	2.51
38	Gm1-gangliosidosis, type ii	Enrichment	GLB1	2.51
39	Nasopharyngeal carcinoma	Enrichment	NPC1	2.51
40	Gm1-gangliosidosis, type iii	Enrichment	GLB1	2.51
41	Tay-sachs disease	Enrichment	HEXA	2.51
42	Gaucher's disease	Enrichment	GBA1	2.51
43	Epilepsy, progressive myoclonic, 4, with or without renal failure	Enrichment	SCARB2	2.38
44	Dementia, lewy body	Enrichment	GBA1	2.29
45	Fabry disease	Enrichment	GALC	2.29
46	Amblyopia	Enrichment	GALC	2.29
47	Dementia	Enrichment	GBA1	2.29
48	Spondyloepiphyseal dysplasia with congenital joint dislocations	Enrichment	GLB1	2.21
49	Metachromatic leukodystrophy	Enrichment	PSAP	2.21
50	Progressive familial intrahepatic cholestasis	Enrichment	GLB1	2.14
51	Parkinsonism	Enrichment	GBA1	2.14
52	Progressive myoclonus epilepsy	Enrichment	SCARB2	1.99
53	Movement disease	Enrichment	GBA1	1.95
54	Myoclonic epilepsy of unverricht and lundborg	Enrichment	SCARB2	1.84
55	Hypertension	Enrichment	GBA1	1.79
56	Beckwith-wiedemann syndrome	Enrichment	GALC	1.73
57	Hepatoblastoma	Enrichment	GBA1	1.67
58	Hydrops fetalis, nonimmune	Enrichment	NEU1	1.58
59	Strabismus	Enrichment	GALC	1.56
60	Non-immune hydrops fetalis	Enrichment	NEU1	1.50
61	Dystonia	Enrichment	NPC1	1.45
62	Benign epilepsy with centrotemporal spikes	Enrichment	SCARB2	1.38
63	Centralopathic epilepsy	Enrichment	SCARB2	1.36
64	Thrombocytopenia	Enrichment	GBA1	1.31
65	Congenital nervous system abnormality	Enrichment	GALC	0.98
66	Nervous system disease	Enrichment	GALC	0.98
67	Microcephaly	Enrichment	NPC2	0.92

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Degradation pathway of sphingolipids, including diseases

Pathway Network for Degradation pathway of sphingolipids, including diseases

Pathway network for the Degradation pathway of sphingolipids, including diseases SuperPath

Member Pathways for Degradation pathway of sphingolipids, including diseases

Pathways in the Degradation pathway of sphingolipids, including diseases SuperPath

Gene overlap in member pathways for Degradation pathway of sphingolipids, including diseases SuperPath

Associated Genes for Degradation pathway of sphingolipids, including diseases

Associated Disorders for Degradation pathway of sphingolipids, including diseases

Disorders associated with Degradation pathway of sphingolipids, including diseases SuperPath

STRING Interaction Network for Degradation pathway of sphingolipids, including diseases

Sources for Degradation pathway of sphingolipids, including diseases