MCID: CRB018
MIFTS: 30

Cerebral Lipidosis

Categories: Neuronal diseases

Aliases & Classifications for Cerebral Lipidosis

MalaCards integrated aliases for Cerebral Lipidosis:

Name: Cerebral Lipidosis 12 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:10742
ICD9CM 35 330.1
UMLS 69 C0007788

Summaries for Cerebral Lipidosis

MalaCards based summary : Cerebral Lipidosis is related to cerebritis and petrositis. An important gene associated with Cerebral Lipidosis is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. The drugs Acetylcysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and testes.

Related Diseases for Cerebral Lipidosis

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

(show all 16)
id Related Disease Score Top Affiliating Genes
1 cerebritis 10.3
2 petrositis 9.7 GLB1 HEXA
3 tay-sachs disease 9.7
4 metachromatic leukodystrophy 9.7
5 leukodystrophy 9.7
6 dementia 9.7
7 speech disorder 9.7
8 myoclonus 9.7
9 purpura 9.7 GLB1 HEXA
10 hyperglobulinemic purpura 9.7 GLB1 HEXA
11 hypogonadotropic hypogonadism 16 with or without anosmia 9.6 GLB1 HEXA
12 mucopolysaccharidosis ih/s 9.6 GLB1 HEXA
13 hemophagocytic lymphohistiocytosis, familial, 5 9.5 GLB1 HEXA
14 malignant glioma 9.5 GLB1 HEXA
15 dysostosis 9.4 GLB1 HEXA
16 uterine corpus cancer 9.2 GLB1 HEXA

Graphical network of the top 20 diseases related to Cerebral Lipidosis:



Diseases related to Cerebral Lipidosis

Symptoms & Phenotypes for Cerebral Lipidosis

Drugs & Therapeutics for Cerebral Lipidosis

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

(show top 50) (show all 139)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4,Phase 1,Phase 2 616-91-1 12035
2
Cysteamine Approved, Investigational Phase 4 60-23-1 6058
3
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1 72599-27-0 51634
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
5
1-Deoxynojirimycin Experimental Phase 4,Phase 3,Phase 2,Phase 1 19130-96-2 1374
6 Antidotes Phase 4,Phase 1,Phase 2
7 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Antioxidants Phase 4,Phase 1,Phase 2
9 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Expectorants Phase 4,Phase 1,Phase 2
11 N-monoacetylcystine Phase 4,Phase 1,Phase 2
12 Protective Agents Phase 4,Phase 1,Phase 2
13 Respiratory System Agents Phase 4,Phase 1,Phase 2
14 Bone Density Conservation Agents Phase 4
15 Micronutrients Phase 4
16 Trace Elements Phase 4
17 Vitamins Phase 4,Phase 2
18 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1
21 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
22 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
23
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
24
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
25
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
26
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
27
Eliglustat Approved Phase 3,Phase 2,Phase 1 491833-29-5 23652731
28
Benzocaine Approved Phase 3,Phase 2 1994-09-7, 94-09-7 2337
29 tannic acid Approved, Nutraceutical Phase 3,Phase 2
30 Alkylating Agents Phase 2, Phase 3
31 Antilymphocyte Serum Phase 2, Phase 3
32 Antirheumatic Agents Phase 2, Phase 3
33 Immunosuppressive Agents Phase 2, Phase 3
34 Methylprednisolone acetate Phase 2, Phase 3
35 Methylprednisolone Hemisuccinate Phase 2, Phase 3
36 Prednisolone acetate Phase 2, Phase 3
37 Prednisolone hemisuccinate Phase 2, Phase 3
38 Prednisolone phosphate Phase 2, Phase 3
39 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
40
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
41
alemtuzumab Approved, Investigational Phase 2 216503-57-0
42
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
43
Hydroxyurea Approved Phase 2 127-07-1 3657
44
Melphalan Approved Phase 2 148-82-3 4053 460612
45
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
46
Pyrimethamine Approved, Vet_approved Phase 1, Phase 2 58-14-0 4993
47
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
48
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
49
rituximab Approved Phase 2 174722-31-7 10201696
50 Thiotepa Approved Phase 2 52-24-4 5453

Interventional clinical trials:

(show top 50) (show all 277)

id 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 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)
3 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
4 Cystagon to Treat Infantile Neuronal Ceroid Lipofuscinosis Completed NCT00028262 Phase 4 Cystagon
5 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
6 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
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 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
13 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
14 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
15 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 Phase 4 Velaglucerase alfa
16 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Active, not recruiting NCT02030015 Phase 4 miglustat
17 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
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 Fabrazyme (agalsidase beta)
19 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)
20 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
21 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
22 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
23 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
24 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3 migalastat HCl 150mg
25 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
26 Extension Study of TKT028 Evaluating Safety and Clinical Outcomes of Replagal® in Adult Patients With Fabry Disease Completed NCT01124643 Phase 3
27 Study of the Effects of Oral AT1001 (Migalastat Hydrochloride) in Patients With Fabry Disease Completed NCT00925301 Phase 3 migalastat hydrochloride;Placebo
28 Safety and Efficacy Study of Several Replagal Dosing Regimens on Cardiac Function in Adults With Fabry Disease Completed NCT00864851 Phase 3
29 A Study of Two Fabrazyme (Agalsidase Beta) Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms Completed NCT00701415 Phase 3
30 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00074971 Phase 3 Fabrazyme (agalsidase beta)
31 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
32 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
33 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
34 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
35 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
36 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
37 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
38 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
39 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
40 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
41 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
42 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
43 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)
44 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 miglustat
45 Efficacy, Safety, Pharmacodynamic, and Pharmacokinetics Study of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
46 Safety and Efficacy of PRX 102 in Patients With Fabry Disease Currently Treated With REPLAGAL® (Agalsidase Alfa) Recruiting NCT03018730 Phase 3
47 Study of the Safety and Efficacy of PRX-102 Compared to Agalsidase Beta on Renal Function Recruiting NCT02795676 Phase 3
48 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
49 Arimoclomol Prospective Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
50 Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease Active, not recruiting NCT02534844 Phase 2, Phase 3 VTS-270;Sham Procedure Control

Search NIH Clinical Center for Cerebral Lipidosis

Genetic Tests for Cerebral Lipidosis

Anatomical Context for Cerebral Lipidosis

MalaCards organs/tissues related to Cerebral Lipidosis:

39
Bone, Liver, Testes, Kidney, Monocytes, Brain, Eye

Publications for Cerebral Lipidosis

Articles related to Cerebral Lipidosis:

(show all 13)
id Title Authors Year
1
A sporadic case of cerebral lipidosis in an adult (Kufs)--pathological and histochemical findings. ( 5068472 )
1972
2
Gm1-gangliosidosis and juvenile cerebral lipidosis. Clinical, histochemical, and chemical study. ( 5089899 )
1971
3
Studies on cerebral lipidosis. Enzymatic study of G M2 -gangliosidosis. ( 4998880 )
1971
4
Studies on cerebral lipidosis. Prenatal diagnosis of Tay-Sachs disease. ( 5004836 )
1971
5
Studies on cerebral lipidosis. Enzymatic diagnosis of metachromatic leukodystrophy. ( 4993715 )
1970
6
Adult cerebral lipidosis. A case of Kufs's disease. ( 5457866 )
1970
7
EEG patterns in juvenile cerebral lipidosis. ( 4184160 )
1969
8
Progressive dementia in childhood due to cerebral lipidosis. ( 5349188 )
1969
9
Early childhood cerebral lipidosis with prominent myoclonus. Ultrastructural and histochemical studies of a cerebral biopsy. ( 5634370 )
1968
10
Cerebral lipidosis in the dog. ( 5656558 )
1968
11
An electronmicroscopical study of a case of atypical cerebral lipidosis. ( 4963519 )
1967
12
Evolution of a characteristic speech disorder in juvenile cerebral lipidosis (Spielmeyervogt Syndrome). ( 5857766 )
1965
13
Cerebral lipidosis: an electroencephalographic study. ( 12978168 )
1952

Variations for Cerebral Lipidosis

Expression for Cerebral Lipidosis

Search GEO for disease gene expression data for Cerebral Lipidosis.

Pathways for Cerebral Lipidosis

Pathways related to Cerebral Lipidosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 GLB1 HEXA
2
Show member pathways
11.91 GLB1 HEXA
3
Show member pathways
11.77 GLB1 HEXA
4 11.41 GLB1 HEXA
5
Show member pathways
11.2 GLB1 HEXA
6
Show member pathways
10.6 GLB1 HEXA
7
Show member pathways
10.26 GLB1 HEXA
8 9.88 GLB1 HEXA

GO Terms for Cerebral Lipidosis

Cellular components related to Cerebral Lipidosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 GLB1 HEXA
2 lysosomal lumen GO:0043202 8.62 GLB1 HEXA

Biological processes related to Cerebral Lipidosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.26 GLB1 HEXA
2 carbohydrate metabolic process GO:0005975 9.16 GLB1 HEXA
3 glycosphingolipid metabolic process GO:0006687 8.96 GLB1 HEXA
4 keratan sulfate catabolic process GO:0042340 8.62 GLB1 HEXA

Molecular functions related to Cerebral Lipidosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 8.62 GLB1 HEXA

Sources for Cerebral Lipidosis

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
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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