MCID: SPH010
MIFTS: 45

Sphingolipidosis malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Sphingolipidosis

Aliases & Descriptions for Sphingolipidosis:

Name: Sphingolipidosis 12 50 14
Sphingolipidoses 12 50 52 42 69
Sphingolipidosis, Nos 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1927
ICD10 33 E75.3
MeSH 42 D013106
NCIt 47 C117254
SNOMED-CT 64 238028008 58459009
UMLS 69 C0037899

Summaries for Sphingolipidosis

MalaCards based summary : Sphingolipidosis, also known as sphingolipidoses, is related to gaucher disease, type iii and gaucher disease, type iiic. An important gene associated with Sphingolipidosis is PSAP (Prosaposin), and among its related pathways/superpathways are Metabolism and Lysosome. The drugs Miglustat and Coal tar have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and kidney, and related phenotypes are Decreased shRNA abundance and behavior/neurological

Wikipedia : 71 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 104)
id Related Disease Score Top Affiliating Genes
1 gaucher disease, type iii 29.9 GBA PSAP
2 gaucher disease, type iiic 29.7 GBA PSAP
3 gaucher disease, type ii 28.7 ARSA GALC GBA GBA3 GLA HEXA
4 gaucher's disease 11.6
5 fabry disease 11.2
6 krabbe disease 11.1
7 metachromatic leukodystrophy 11.1
8 tay-sachs disease 11.0
9 serous or mucinous cystadenoma of childhood 10.3 GALC PSAP
10 diffuse large b-cell lymphoma of the central nervous system 10.3 ARSA PSAP
11 follicular cholangitis and pancreatitis 10.3 ARSA PSAP
12 primary cutaneous anaplastic large cell lymphoma 10.3 ARSA PSAP
13 chronic pyelonephritis 10.3 GLB1 HEXA
14 lockwood feingold syndrome 10.3 ASAH2 PSAP
15 pouchitis 10.3 NPC1 NPC2
16 5-fluorouracil poisoning 10.3 NPC1 NPC2
17 neuroendocrine cell hyperplasia of infancy 10.2 NPC1 NPC2
18 pulmonary interstitial glycogenosis 10.2 NPC1 NPC2
19 atypical coarctation of aorta 10.2 NPC1 NPC2
20 autosomal dominant tubulointerstitial kidney disease, ren-related 10.2 NPC1 SMPD1
21 hypertelorism, preauricular sinus, punctal pits, and deafness 10.2 ARSA GALC PSAP
22 partial motor epilepsy 10.2 GLB1 HEXA PSAP
23 charge syndrome 10.2 GLA GLB1
24 malignant fibrous histiocytoma of bone 10.1 CTSA GLB1 PSAP
25 nasopharyngeal carcinoma 2 10.1 CTSA GLB1 PSAP
26 posterior uveal melanoma 10.1 GBA GLA HEXA NPC1
27 seizures, benign familial infantile, 1 10.1 CTSA HEXA
28 mitochondrial dna depletion syndrome 1 10.1 ARSA GALC HEXA PSAP
29 idiopathic progressive polyneuropathy 10.1 ARSA GALC PSAP
30 aggressive systemic mastocytosis 10.1 CTSA GLA
31 lumbar spinal canal and spinal cord meningioma 10.1 NPC1 NPC2 SMPD1
32 acne inversa, familial, 3 10.1 NPC1 NPC2 SMPD1
33 spina bifida occulta 10.0 ARSA CTSA GLB1 PSAP
34 tinea favosa 10.0 HEXA NPC1 NPC2 SMPD1
35 myasthenia gravis 10.0 CTSA GLB1
36 myopia 23, autosomal recessive 10.0 CTSA GLA GLB1 HEXA
37 47,xyy syndrome 10.0 ASAH2 NPC1 NPC2 PSAP SMPD1
38 atrial septal defect 9 10.0 ASAH2 NPC1 NPC2 PSAP SMPD1
39 osteochondrosis 10.0 GBA NPC1 NPC2 PSAP SMPD1
40 severe combined immunodeficiency due to ada deficiency 9.9 CTSA GLB1
41 leukoencephalopathy with vanishing white matter 9.9
42 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 9.8
43 niemann-pick disease 9.8
44 pick disease 9.8
45 hypothalamic disease 9.8 ARSA GBA GBA3 HEXA PSAP SCARB2
46 gaucher disease, type i 9.7
47 gaucher disease, atypical 9.7
48 gaucher disease, perinatal lethal 9.7
49 niemann-pick disease, type b 9.7
50 leukodystrophy, hypomyelinating, 2 9.7

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:

26
id 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:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.39 ARSA CTSA GALC GBA GLA GLB1
2 growth/size/body region MP:0005378 10.37 CTSA GALC GBA GLA GLB1 HEXA
3 homeostasis/metabolism MP:0005376 10.34 MCOLN1 NPC1 NPC2 PSAP SCARB2 SMPD1
4 cellular MP:0005384 10.3 CTSA GALC GBA GLA GLB1 HEXB
5 hematopoietic system MP:0005397 10.27 ARSA CTSA GALC GBA GLB1 HEXB
6 immune system MP:0005387 10.25 HHEX MCOLN1 NPC1 NPC2 PSAP SCARB2
7 cardiovascular system MP:0005385 10.24 CTSA GALC GBA GLA HHEX MCOLN1
8 mortality/aging MP:0010768 10.2 SMPD1 MGEA5 NPC1 NPC2 PSAP SCARB2
9 liver/biliary system MP:0005370 10.15 CTSA GALC GBA GLA GLB1 HEXA
10 nervous system MP:0003631 10.1 MCOLN1 NPC1 NPC2 PSAP SCARB2 SMPD1
11 craniofacial MP:0005382 9.99 CTSA GALC HEXA HEXB HHEX NPC1
12 hearing/vestibular/ear MP:0005377 9.88 HEXA ARSA HEXB PSAP SCARB2
13 renal/urinary system MP:0005367 9.81 CTSA GALC GLA GLB1 HEXA HEXB
14 respiratory system MP:0005388 9.56 NPC2 PSAP SMPD1 CTSA GBA HHEX
15 vision/eye MP:0005391 9.23 GALC GLA HEXA HEXB HHEX MCOLN1

Drugs & Therapeutics for Sphingolipidosis

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

(show top 50) (show all 159)
id 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
Coal tar Approved Phase 4 8007-45-2
3
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
4
1-Deoxynojirimycin Experimental Phase 4,Phase 3,Phase 2,Phase 1 19130-96-2 1374
5 Bone Density Conservation Agents Phase 4,Phase 2
6 Micronutrients Phase 4,Phase 2
7 Trace Elements Phase 4,Phase 2
8 vitamin d Phase 4,Phase 2
9 Vitamins Phase 4,Phase 2
10 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
12 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
14 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1
15 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
16 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Hydroxycholecalciferols Phase 4
18
Eliglustat Approved Phase 3,Phase 2,Phase 1 491833-29-5 23652731
19
Benzocaine Approved Phase 3,Phase 2 1994-09-7, 94-09-7 2337
20
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
21
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
22
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
23
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
24
Glycerol Approved, Experimental Phase 2, Phase 3 56-81-5 753
25 tannic acid Approved, Nutraceutical Phase 3,Phase 2
26 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
27 Alkylating Agents Phase 2, Phase 3
28 Antilymphocyte Serum Phase 2, Phase 3
29 Antineoplastic Agents, Alkylating Phase 2, Phase 3
30 Antirheumatic Agents Phase 2, Phase 3
31 Immunosuppressive Agents Phase 2, Phase 3
32 Methylprednisolone acetate Phase 2, Phase 3
33 Methylprednisolone Hemisuccinate Phase 2, Phase 3
34 Prednisolone acetate Phase 2, Phase 3
35 Prednisolone hemisuccinate Phase 2, Phase 3
36 Prednisolone phosphate Phase 2, Phase 3
37
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
38
Calcium carbonate Approved Phase 2 471-34-1
39
Pyrimethamine Approved, Vet_approved Phase 1, Phase 2 58-14-0 4993
40
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
41
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
42
alemtuzumab Approved, Investigational Phase 2 216503-57-0
43
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
44
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
45
Hydroxyurea Approved Phase 2 127-07-1 3657
46
Melphalan Approved Phase 2 148-82-3 4053 460612
47
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
48
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
49
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
50
rituximab Approved Phase 2 174722-31-7 10201696

Interventional clinical trials:

(show top 50) (show all 269)
id Name Status NCT ID Phase
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4
2 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
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
5 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4
6 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4
7 A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. Completed NCT00233870 Phase 4
8 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4
9 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4
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
13 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 Phase 4
14 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4
15 Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study Recruiting NCT00455104 Phase 4
16 A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their Infants Recruiting NCT00230607 Phase 4
17 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Not yet recruiting NCT03021941 Phase 4
18 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4
19 Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3
20 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3
21 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
22 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3
23 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3
24 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3
25 Study to Compare the Efficacy and Safety of Oral AT1001 and Enzyme Replacement Therapy in Patients With Fabry Disease Completed NCT01218659 Phase 3
26 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
27 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
28 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
29 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3
30 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3
31 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
32 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3
33 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3
34 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
35 Pharmacokinetics, Safety and Tolerability of Zavesca (Miglustat) in Patients With Infantile Onset Gangliosidosis: Single and Steady State Oral Doses Completed NCT00672022 Phase 3
36 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
37 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
38 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
39 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
40 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease Completed NCT00376168 Phase 3
41 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3
42 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
43 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00074971 Phase 3
44 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3
45 Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function Recruiting NCT02795676 Phase 3
46 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, 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 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Recruiting NCT02534844 Phase 2, Phase 3
49 Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease Active, not recruiting NCT02194985 Phase 3
50 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3

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:

39
Brain, Skin, Kidney

Publications for Sphingolipidosis

Articles related to Sphingolipidosis:

(show all 13)
id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.98 ARSA GBA GLB1 HEXB NPC2 PSAP
2 lysosomal membrane GO:0005765 9.8 CTSA GBA MCOLN1 NPC1 PSAP SCARB2
3 lysosome GO:0005764 9.8 ARSA CTSA GALC GBA GLA GLB1
4 late endosome membrane GO:0031902 9.63 MCOLN1 NPC1 SCARB2
5 azurophil granule lumen GO:0035578 9.63 ARSA CTSA GLA GLB1 HEXB NPC2
6 azurophil granule GO:0042582 9.4 HEXA HEXB
7 lysosomal lumen GO:0043202 9.4 ARSA CTSA GALC GBA GLA GLB1
8 extracellular exosome GO:0070062 10.07 ARSA CTSA GALC GBA GLA GLB1
9 extracellular region GO:0005576 10.02 ARSA CTSA GLA GLB1 HEXB NPC1

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.91 ASAH2 GALC GBA NPC1 NPC2 PSAP
2 neutrophil degranulation GO:0043312 9.87 ARSA CTSA GLA GLB1 HEXB NPC2
3 carbohydrate metabolic process GO:0005975 9.7 GALC GBA GBA3 GLA GLB1 HEXA
4 metabolic process GO:0008152 9.61 ARSA GALC GBA GLA GLB1 HEXA
5 ceramide biosynthetic process GO:0046513 9.58 GBA SMPD1
6 low-density lipoprotein particle clearance GO:0034383 9.57 NPC1 NPC2
7 cholesterol efflux GO:0033344 9.56 NPC1 NPC2
8 sphingolipid metabolic process GO:0006665 9.56 ASAH2 GALC GBA PSAP
9 cholesterol transport GO:0030301 9.55 NPC1 NPC2
10 positive regulation of protein dephosphorylation GO:0035307 9.54 GBA SMPD1
11 keratan sulfate catabolic process GO:0042340 9.54 GLB1 HEXA HEXB
12 hyaluronan catabolic process GO:0030214 9.52 HEXA HEXB
13 chondroitin sulfate catabolic process GO:0030207 9.51 HEXA HEXB
14 response to pH GO:0009268 9.49 ARSA GBA
15 glycoside catabolic process GO:0016139 9.48 GBA3 GLA
16 termination of signal transduction GO:0023021 9.46 GBA SMPD1
17 glycosylceramide catabolic process GO:0046477 9.4 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:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 ARSA ASAH2 CTSA GALC GBA GLA
2 acetylglucosaminyltransferase activity GO:0008375 9.46 HEXA HEXB
3 exo-alpha-sialidase activity GO:0004308 9.43 CTSA GLB1
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 GLA GLB1 HEXB
5 galactoside binding GO:0016936 9.4 GLA GLB1
6 beta-N-acetylhexosaminidase activity GO:0004563 9.37 HEXA HEXB
7 beta-galactosidase activity GO:0004565 9.33 GBA3 GLB1 PSAP
8 glucosylceramidase activity GO:0004348 9.32 GBA GBA3
9 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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