MCID: SPH010
MIFTS: 48

Sphingolipidosis

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Sphingolipidosis

MalaCards integrated aliases for Sphingolipidosis:

Name: Sphingolipidosis 12 72 49 14
Sphingolipidoses 12 49 51 41 69
Sphingolipidosis, Nos 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1927
ICD10 32 E75.3
MeSH 41 D013106
NCIt 46 C117254
SNOMED-CT 64 238028008 58459009
UMLS 69 C0037899

Summaries for Sphingolipidosis

MalaCards based summary : Sphingolipidosis, also known as sphingolipidoses, is related to gaucher's disease and metachromatic leukodystrophy. An important gene associated with Sphingolipidosis is PSAP (Prosaposin), and among its related pathways/superpathways are Metabolism and Lysosome. The drugs Miglustat and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and bone marrow, and related phenotypes are Decreased shRNA abundance and behavior/neurological

Wikipedia : 72 Sphingolipidoses (singular \"sphingolipidosis\") are a class of lipid storage disorders relating to... more...

Related Diseases for Sphingolipidosis

Diseases related to Sphingolipidosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 gaucher's disease 32.3 ARSA GBA GBA3 PSAP SCARB2
2 metachromatic leukodystrophy 32.0 ARSA GALC HEXA PSAP
3 gaucher disease, type ii 30.4 GBA PSAP
4 gaucher disease, type iii 30.4 GBA PSAP
5 metachromatic leukodystrophy, adult form 30.2 ARSA PSAP
6 metachromatic leukodystrophy, late infantile form 30.2 ARSA PSAP
7 metachromatic leukodystrophy, juvenile form 30.2 ARSA PSAP
8 infantile krabbe disease 30.2 GALC PSAP
9 niemann-pick disease type c, severe perinatal form 30.1 NPC1 NPC2
10 niemann-pick disease type c, late infantile neurologic onset 30.1 NPC1 NPC2
11 niemann-pick disease type c, severe early infantile neurologic onset 30.1 NPC1 NPC2
12 niemann-pick disease type c, adult neurologic onset 30.1 NPC1 NPC2
13 niemann-pick disease type c, juvenile neurologic onset 30.1 NPC1 NPC2
14 gaucher disease, type i 30.0 GBA PSAP SCARB2
15 tay-sachs disease 29.9 ARSA CTSA HEXA HEXB MGEA5 PSAP
16 krabbe disease 29.9 ARSA GALC PSAP
17 niemann-pick disease 29.4 ASAH2 GBA NPC1 NPC2 PSAP SMPD1
18 fabry disease 11.2
19 cerebral lipidosis 10.4 GLB1 HEXA
20 niemann-pick disease, type c1 10.3 NPC1 NPC2
21 acid sphingomyelinase deficiency 10.3 NPC1 SMPD1
22 gangliosidosis gm1 10.3 GLB1 HEXA PSAP
23 angiokeratoma 10.2 CTSA GLA
24 mucopolysaccharidosis, type vii 10.2 GLB1 HEXA
25 leukodystrophy 10.2 ARSA GALC PSAP
26 occupational dermatitis 10.2 GBA SMPD1
27 internuclear ophthalmoplegia 10.2 GBA HEXA
28 mannosidosis, alpha b, lysosomal 10.2 CTSA HEXA
29 galactosialidosis 10.1 CTSA GLB1
30 glycoproteinosis 10.1 CTSA GLB1 PSAP
31 mucopolysaccharidosis iv 10.1 CTSA GLB1
32 glycine n-methyltransferase deficiency 10.1 ADPRH NPC2
33 lymphatic system disease 10.1 NPC1 NPC2 SMPD1
34 fucosidosis 10.0 CTSA HEXA
35 mucolipidosis ii alpha/beta 10.0 ADPRH PSAP SMPD1
36 hand, foot and mouth disease 10.0 GBA SCARB2
37 inclusion-cell disease 9.9 ARSA CTSA GLB1 PSAP
38 non-langerhans-cell histiocytosis 9.9 HEXA NPC1 NPC2 SMPD1
39 scheie syndrome 9.9 CTSA GLA GLB1 HEXA
40 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.8
41 leukodystrophy, hypomyelinating, 3 9.8
42 pelizaeus-merzbacher disease 9.8
43 leukoencephalopathy with vanishing white matter 9.8
44 gaucher disease, perinatal lethal 9.8
45 leukodystrophy, hypomyelinating, 2 9.8
46 gaucher disease, atypical, due to saposin c deficiency 9.8
47 leukodystrophy, hypomyelinating, 4 9.8
48 leukodystrophy, hypomyelinating, 6 9.8
49 leukodystrophy, hypomyelinating, 9 9.8
50 inherited metabolic disorder 9.8 ARSA GBA GBA3 GLA HEXA NPC1

Graphical network of the top 20 diseases related to Sphingolipidosis:



Diseases related to Sphingolipidosis

Symptoms & Phenotypes for Sphingolipidosis

GenomeRNAi Phenotypes related to Sphingolipidosis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 ASAH2 GBA3 HEXA NPC2

MGI Mouse Phenotypes related to Sphingolipidosis:

43 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.37 ARSA CTSA GALC GBA GLA GLB1
2 growth/size/body region MP:0005378 10.32 HEXA HEXB MCOLN1 MGEA5 NPC1 NPC2
3 homeostasis/metabolism MP:0005376 10.31 ARSA ASAH2 CTSA GALC GBA GLA
4 immune system MP:0005387 10.25 ARSA CTSA GALC GBA GLA GLB1
5 cellular MP:0005384 10.24 CTSA GALC GBA GLA GLB1 HEXB
6 hematopoietic system MP:0005397 10.23 ARSA CTSA GALC GBA GLB1 HEXB
7 mortality/aging MP:0010768 10.17 CTSA GALC GBA GLA GLB1 HEXA
8 cardiovascular system MP:0005385 10.16 CTSA GALC GBA GLA MCOLN1 NPC1
9 liver/biliary system MP:0005370 10.11 CTSA GALC GBA GLA GLB1 HEXA
10 nervous system MP:0003631 10.07 ARSA GALC GBA GLA GLB1 HEXA
11 renal/urinary system MP:0005367 9.81 MCOLN1 PSAP SCARB2 CTSA GALC GLA
12 respiratory system MP:0005388 9.5 PSAP SMPD1 CTSA GBA MGEA5 NPC1
13 vision/eye MP:0005391 9.17 GALC GLA HEXA HEXB MCOLN1 NPC1

Drugs & Therapeutics for Sphingolipidosis

Drugs for Sphingolipidosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 169)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1 72599-27-0 51634
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
3
1-Deoxynojirimycin Experimental Phase 4,Phase 3,Phase 2,Phase 1 19130-96-2 1374
4 Bone Density Conservation Agents Phase 4,Phase 2
5 Micronutrients Phase 4,Phase 2
6 Trace Elements Phase 4,Phase 2
7 Vitamins Phase 4,Phase 2
8 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1
13 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
14 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
15
Eliglustat Approved Phase 3,Phase 2,Phase 1 491833-29-5 23652731
16
Benzocaine Approved, Investigational Phase 3,Phase 2 1994-09-7, 94-09-7 2337
17
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
18
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
19
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
20
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
21
Altretamine Approved Phase 3 645-05-6 2123
22
Dimethyl sulfoxide Approved, Vet_approved Phase 3 67-68-5 679
23
Glycerol Approved, Investigational Phase 2, Phase 3 56-81-5 753
24 tannic acid Approved, Nutraceutical Phase 3,Phase 2
25 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
26 Alkylating Agents Phase 2, Phase 3
27 Antilymphocyte Serum Phase 2, Phase 3
28 Antirheumatic Agents Phase 2, Phase 3
29 Immunosuppressive Agents Phase 2, Phase 3
30 Methylprednisolone acetate Phase 2, Phase 3
31 Methylprednisolone Hemisuccinate Phase 2, Phase 3
32 Prednisolone acetate Phase 2, Phase 3
33 Prednisolone hemisuccinate Phase 2, Phase 3
34 Prednisolone phosphate Phase 2, Phase 3
35
Ethylene Phase 3 74-85-1 6325
36
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
37
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
38
alemtuzumab Approved, Investigational Phase 2 216503-57-0
39
Mesna Approved, Investigational Phase 2 3375-50-6 598
40
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
41
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
42
Mycophenolic acid Approved Phase 2 24280-93-1 446541
43
Pyrimethamine Approved, Investigational, Vet_approved Phase 1, Phase 2 58-14-0 4993
44
Coal tar Approved Phase 2 8007-45-2
45
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
46
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
47
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
48
Hydroxyurea Approved Phase 2 127-07-1 3657
49
Melphalan Approved Phase 2 148-82-3 460612 4053
50
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662

Interventional clinical trials:

(show top 50) (show all 288)

# Name Status NCT ID Phase Drugs
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
2 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
3 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
4 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
5 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4 Cerezyme (imiglucerase for injection)
6 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
7 A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. Completed NCT00233870 Phase 4 Agalsidase beta (recombinant form)
8 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
9 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
10 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
11 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed NCT00074984 Phase 4
12 Phase 4 Study to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 Years Recruiting NCT02574286 Phase 4 Velaglucerase alfa
13 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
14 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
15 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Not yet recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
16 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
17 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4 Fabrazyme (agalsidase beta)
18 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
19 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
20 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
21 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3 migalastat HCl 150mg
22 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
23 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
24 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT01218659 Phase 3 migalastat hydrochloride
25 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
26 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) Completed NCT01074944 Phase 3 Eliglustat tartrate
27 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3 Eliglustat tartrate;Imiglucerase
28 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
29 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
30 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
31 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
32 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
33 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
34 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3 Zavesca (Miglustat)
35 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
36 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
37 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
38 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
39 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease Completed NCT00376168 Phase 3 Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)
40 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 miglustat
41 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
42 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00074971 Phase 3 Fabrazyme (agalsidase beta)
43 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
44 Study of the Safety, Efficacy, & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients Recruiting NCT03180840 Phase 3
45 Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) Recruiting NCT03018730 Phase 3
46 Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function Recruiting NCT02795676 Phase 3
47 A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease Recruiting NCT01298141 Phase 3
48 A Safety and Efficacy Study of Cryopreserved GSK2696274 for Treatment of Metachromatic Leukodystrophy (MLD) Recruiting NCT03392987 Phase 3 GSK2696274
49 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
50 Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease Active, not recruiting NCT02194985 Phase 3 migalastat HCl 150 mg

Search NIH Clinical Center for Sphingolipidosis

Cochrane evidence based reviews: sphingolipidoses

Genetic Tests for Sphingolipidosis

Anatomical Context for Sphingolipidosis

MalaCards organs/tissues related to Sphingolipidosis:

38
Bone, Kidney, Bone Marrow, Liver, Brain, Monocytes, T Cells

Publications for Sphingolipidosis

Articles related to Sphingolipidosis:

(show all 13)
# Title Authors Year
1
Visualization of the heterogeneous membrane distribution of sphingomyelin associated with cytokinesis, cell polarity, and sphingolipidosis. ( 25389132 )
2014
2
Sustained activation of sphingomyelin synthase by 2-hydroxyoleic acid induces sphingolipidosis in tumor cells. ( 23471028 )
2013
3
Arsenic induces oxidative stress, sphingolipidosis, depletes proteins and some antioxidants in various regions of rat brain. ( 18604117 )
2008
4
Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells. ( 17050734 )
2007
5
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients. ( 11934514 )
2002
6
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. ( 11309366 )
2001
7
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients. ( 10491988 )
1999
8
Feline sphingolipidosis resembling Niemann-Pick disease type C. ( 2127982 )
1990
9
Isolation and characterization of cytoplasmic inclusion bodies from the grey matter of the formalin-fixed brain from new case of generalized sphingolipidosis with failure of myelination. ( 194074 )
1977
10
Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis. ( 803227 )
1975
11
Reversal of an inborn sphingolipidosis (Fabry's disease) by kidney transplantation. ( 4565790 )
1972
12
A sphingolipidosis registry. ( 5688476 )
1968
13
FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID. ( 14081947 )
1963

Variations for Sphingolipidosis

Expression for Sphingolipidosis

Search GEO for disease gene expression data for Sphingolipidosis.

Pathways for Sphingolipidosis

Pathways related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 ARSA ASAH2 CTSA GALC GBA GBA3
2 11.89 ARSA CTSA GALC GBA GLA GLB1
3
Show member pathways
11.8 ARSA ASAH2 CTSA GALC GBA GBA3
4
Show member pathways
11.74 GBA3 GLA GLB1
5
Show member pathways
11.55 GLB1 HEXA HEXB
6
Show member pathways
11.15 GLA HEXA HEXB
7
Show member pathways
10.99 GLB1 HEXA HEXB
8
Show member pathways
10.8 GLB1 HEXA HEXB
9 10.71 GBA GLB1 HEXA HEXB
10
Show member pathways
10.6 NPC1 NPC2

GO Terms for Sphingolipidosis

Cellular components related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.8 CTSA GBA MCOLN1 NPC1 PSAP SCARB2
2 lysosome GO:0005764 9.8 ARSA CTSA GALC GBA GLA GLB1
3 azurophil granule lumen GO:0035578 9.63 ARSA CTSA GLA GLB1 HEXB NPC2
4 late endosome membrane GO:0031902 9.61 MCOLN1 NPC1 SCARB2
5 azurophil granule GO:0042582 9.4 HEXA HEXB
6 lysosomal lumen GO:0043202 9.4 ARSA CTSA GALC GBA GLA GLB1
7 extracellular exosome GO:0070062 10.07 ARSA CTSA GALC GBA GLA GLB1
8 extracellular region GO:0005576 10.02 ARSA CTSA GLA GLB1 HEXB NPC1
9 extracellular space GO:0005615 10 ARSA GBA GLB1 HEXB NPC2 PSAP

Biological processes related to Sphingolipidosis according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.88 ASAH2 GALC GBA NPC1 NPC2 PSAP
2 neutrophil degranulation GO:0043312 9.8 ARSA CTSA GLA GLB1 HEXB NPC2
3 carbohydrate metabolic process GO:0005975 9.77 GBA3 GLA GLB1 HEXA HEXB
4 metabolic process GO:0008152 9.61 ARSA GALC GBA GLA GLB1 HEXA
5 ceramide biosynthetic process GO:0046513 9.58 GBA SMPD1
6 cholesterol transport GO:0030301 9.57 NPC1 NPC2
7 cholesterol efflux GO:0033344 9.56 NPC1 NPC2
8 low-density lipoprotein particle clearance GO:0034383 9.55 NPC1 NPC2
9 positive regulation of protein dephosphorylation GO:0035307 9.54 GBA SMPD1
10 hyaluronan catabolic process GO:0030214 9.52 HEXA HEXB
11 chondroitin sulfate catabolic process GO:0030207 9.51 HEXA HEXB
12 keratan sulfate catabolic process GO:0042340 9.5 GLB1 HEXA HEXB
13 response to pH GO:0009268 9.49 ARSA GBA
14 glycoside catabolic process GO:0016139 9.48 GBA3 GLA
15 termination of signal transduction GO:0023021 9.46 GBA SMPD1
16 sphingolipid metabolic process GO:0006665 9.46 ASAH2 GALC GBA PSAP
17 glycosylceramide catabolic process GO:0046477 9.43 GBA3 GLA
18 glycosphingolipid metabolic process GO:0006687 9.36 ARSA CTSA GALC GBA GBA3 GLA

Molecular functions related to Sphingolipidosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.73 ADPRH ARSA ASAH2 CTSA GALC GBA
2 acetylglucosaminyltransferase activity GO:0008375 9.48 HEXA HEXB
3 exo-alpha-sialidase activity GO:0004308 9.46 CTSA GLB1
4 galactoside binding GO:0016936 9.43 GLA GLB1
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 GLA GLB1 HEXB
6 beta-N-acetylhexosaminidase activity GO:0004563 9.4 HEXA HEXB
7 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.37 HEXA HEXB
8 beta-galactosidase activity GO:0004565 9.33 GBA3 GLB1 PSAP
9 glucosylceramidase activity GO:0004348 9.32 GBA GBA3
10 hydrolase activity, acting on glycosyl bonds GO:0016798 9.23 GALC GBA GLA GLB1 HEXA HEXB

Sources for Sphingolipidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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