MCID: CRB018
MIFTS: 25

Cerebral Lipidosis

Categories: Neuronal diseases

Aliases & Classifications for Cerebral Lipidosis

MalaCards integrated aliases for Cerebral Lipidosis:

Name: Cerebral Lipidosis 12 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:10742
ICD9CM 34 330.1
SNOMED-CT 67 16517004
UMLS 71 C0007788

Summaries for Cerebral Lipidosis

MalaCards based summary : Cerebral Lipidosis is related to gangliosidosis and gm1 gangliosidosis. An important gene associated with Cerebral Lipidosis is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Glucose / Energy Metabolism and Lysosome. Affiliated tissues include eye, and related phenotypes are cellular and growth/size/body region

Related Diseases for Cerebral Lipidosis

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 gangliosidosis 30.3 GLB1 CHIT1
2 gm1 gangliosidosis 29.9 GLB1 CHIT1
3 tay-sachs disease 29.2 SMPD1 IGF2R GLB1
4 metachromatic leukodystrophy 28.4 SMPD1 PTPRC M6PR IGF2R
5 cerebral lipidosis with dementia 12.4
6 galactosialidosis 10.1 M6PR GLB1
7 fucosidosis 10.0 GLB1 CHIT1
8 ceroid lipofuscinosis, neuronal, 2 9.9
9 niemann-pick disease, type c1 9.9
10 lennox-gastaut syndrome 9.9
11 leukodystrophy 9.9
12 visual epilepsy 9.9
13 dementia 9.9
14 speech disorder 9.9
15 myoclonus 9.9
16 seizure disorder 9.9
17 splenomegaly 9.9 CHIT1 APOE
18 gaucher disease, type i 9.9 SMPD1 CHIT1
19 gaucher disease, type ii 9.9 SMPD1 CHIT1
20 niemann-pick disease, type b 9.9 SMPD1 CHIT1
21 hurler syndrome 9.8 IGF2R GLB1
22 mucolipidosis iii alpha/beta 9.8 M6PR IGF2R
23 mucopolysaccharidosis, type vii 9.8 M6PR IGF2R
24 mucopolysaccharidosis, type iiib 9.8 M6PR IGF2R
25 mucopolysaccharidosis, type ii 9.8 M6PR IGF2R
26 fabry disease 9.7 M6PR CHIT1
27 glycogen storage disease ii 9.7 M6PR IGF2R
28 aspartylglucosaminuria 9.7 M6PR IGF2R
29 niemann-pick disease, type a 9.7 SMPD1 M6PR CHIT1
30 ceroid lipofuscinosis, neuronal, 3 9.6 M6PR IGF2R
31 mucopolysaccharidosis, type iiia 9.6 M6PR IGF2R
32 scheie syndrome 9.6 IGF2R GLB1
33 mucopolysaccharidosis iv 9.6 M6PR IGF2R GLB1
34 mucopolysaccharidosis, type iva 9.6 M6PR IGF2R GLB1
35 mucopolysaccharidosis, type vi 9.6 M6PR IGF2R GLB1
36 mucopolysaccharidosis iii 9.5 M6PR IGF2R GLB1
37 c syndrome 9.5 SMPD1 IGF2R
38 gaucher's disease 9.5 CHIT1 APOE
39 sandhoff disease 9.4 SMPD1 IGF2R GLB1
40 gm2 gangliosidosis 9.4 SMPD1 IGF2R GLB1
41 mucolipidosis ii alpha/beta 9.4 SMPD1 M6PR IGF2R
42 mucolipidosis 9.4 SMPD1 M6PR IGF2R
43 neuronal ceroid lipofuscinosis 9.3 SMPD1 M6PR IGF2R
44 lipid storage disease 9.1 SMPD1 IGF2R GLB1 CHIT1
45 lysosomal and lipase deficiency 9.1 SMPD1 M6PR IGF2R CHIT1
46 lysosomal acid lipase deficiency 9.1 SMPD1 M6PR IGF2R CHIT1
47 krabbe disease 9.1 SMPD1 M6PR IGF2R CHIT1
48 niemann-pick disease 9.0 SMPD1 M6PR IGF2R CHIT1
49 sphingolipidosis 8.8 SMPD1 M6PR IGF2R GLB1 CHIT1
50 mucopolysaccharidosis-plus syndrome 8.8 SMPD1 M6PR IGF2R GLB1 CHIT1

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



Diseases related to Cerebral Lipidosis

Symptoms & Phenotypes for Cerebral Lipidosis

MGI Mouse Phenotypes related to Cerebral Lipidosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.88 APOE GLB1 IGF2R M6PR PTPRC SMPD1
2 growth/size/body region MP:0005378 9.85 APOE GLB1 IGF2R M6PR PTPRC SMPD1
3 liver/biliary system MP:0005370 9.72 APOE GLB1 IGF2R PTPRC SMPD1
4 renal/urinary system MP:0005367 9.65 APOE GLB1 IGF2R M6PR PTPRC
5 reproductive system MP:0005389 9.55 APOE GLB1 IGF2R M6PR SMPD1
6 respiratory system MP:0005388 9.26 APOE IGF2R PTPRC SMPD1
7 skeleton MP:0005390 9.02 APOE GLB1 IGF2R M6PR PTPRC

Drugs & Therapeutics for Cerebral Lipidosis

Search Clinical Trials , NIH Clinical Center for Cerebral Lipidosis

Genetic Tests for Cerebral Lipidosis

Anatomical Context for Cerebral Lipidosis

MalaCards organs/tissues related to Cerebral Lipidosis:

40
Eye

Publications for Cerebral Lipidosis

Articles related to Cerebral Lipidosis:

(show all 26)
# Title Authors PMID Year
1
Utility of serum lysosomal enzyme assay in the detection of cerebral sphingolipidoses in patients with progressive neurologic dysfunction. 61
23100874 1997
2
Congenital ceroid-lipofuscinosis. 61
1558577 1992
3
[The activity of various lysosomal acid hydrolases in the normal child. Premise to the biochemical study of cerebral lipidosis]. 61
25375 1978
4
[A case of cerebral lipidosis with an atypical presentation (author's transl)]. 61
663347 1978
5
Vacuolar myopathy associated with chloroquine, lupus erythematosus and thymoma. Report of a case with unusual mitochondrial changes and lipid accumulation in muscle. 61
591993 1977
6
[Adult type of cerebral lipidosis with multilamellar cytosomes--a case study]. 61
1036017 1976
7
[Autopsy case of Kufs' type of cerebral lipidosis]. 61
4674946 1972
8
A sporadic case of cerebral lipidosis in an adult (Kufs)--pathological and histochemical findings. 61
5068472 1972
9
Studies on cerebral lipidosis. Prenatal diagnosis of Tay-Sachs disease. 61
5004836 1971
10
Studies on cerebral lipidosis. Enzymatic study of G M2 -gangliosidosis. 61
4998880 1971
11
Gm1-gangliosidosis and juvenile cerebral lipidosis. Clinical, histochemical, and chemical study. 61
5089899 1971
12
Studies on cerebral lipidosis. Enzymatic diagnosis of metachromatic leukodystrophy. 61
4993715 1970
13
Adult cerebral lipidosis. A case of Kufs's disease. 61
5457866 1970
14
[Eye manifestations in cerebral lipidosis]. 61
5391921 1969
15
EEG patterns in juvenile cerebral lipidosis. 61
4184160 1969
16
[Feline cases of cerebral lipidosis resembling Tay-Sachs disease]. 61
5390672 1969
17
Progressive dementia in childhood due to cerebral lipidosis. 61
5349188 1969
18
[Cerebral lipidosis]. 61
4180343 1968
19
[Current data on cerebral lipidosis]. 61
4173571 1968
20
Cerebral lipidosis in the dog. 61
5656558 1968
21
Early childhood cerebral lipidosis with prominent myoclonus. Ultrastructural and histochemical studies of a cerebral biopsy. 61
5634370 1968
22
[An unusual form of cerebral lipidosis with visceral involvement]. 61
5617996 1967
23
An electronmicroscopical study of a case of atypical cerebral lipidosis. 61
4963519 1967
24
Evolution of a characteristic speech disorder in juvenile cerebral lipidosis (Spielmeyervogt Syndrome). 61
5857766 1965
25
[Familial cerebral lipidosis of a juvenile type. Diagnostic importance of cerebral biopsy]. 61
13799674 1960
26
Cerebral lipidosis: an electroencephalographic study. 61
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:

# Super pathways Score Top Affiliating Genes
1 11.82 IGF2R GLB1 APOE
2 11.03 SMPD1 M6PR IGF2R GLB1
3 10.95 M6PR IGF2R
4 10.46 PTPRC APOE

GO Terms for Cerebral Lipidosis

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

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.62 M6PR IGF2R GLB1 APOE
2 extracellular exosome GO:0070062 9.55 SMPD1 PTPRC IGF2R GLB1 APOE
3 secretory granule membrane GO:0030667 9.46 PTPRC IGF2R
4 transport vesicle GO:0030133 9.43 M6PR IGF2R
5 trans-Golgi network membrane GO:0032588 9.4 M6PR IGF2R
6 lysosomal lumen GO:0043202 9.37 SMPD1 GLB1
7 extracellular space GO:0005615 9.35 SMPD1 IGF2R GLB1 CHIT1 APOE
8 clathrin-coated vesicle membrane GO:0030665 9.26 M6PR IGF2R
9 lysosome GO:0005764 9.02 SMPD1 M6PR IGF2R GLB1 CHIT1

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.5 SMPD1 GLB1 CHIT1
2 cholesterol metabolic process GO:0008203 9.43 SMPD1 APOE
3 negative regulation of MAP kinase activity GO:0043407 9.4 SMPD1 APOE
4 glycosphingolipid metabolic process GO:0006687 9.37 SMPD1 GLB1
5 receptor-mediated endocytosis GO:0006898 9.33 M6PR IGF2R APOE
6 lysosomal transport GO:0007041 9.26 M6PR IGF2R
7 neutrophil degranulation GO:0043312 9.26 PTPRC IGF2R GLB1 CHIT1
8 positive regulation by host of viral process GO:0044794 8.62 IGF2R APOE

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 GLB1 CHIT1
2 heparan sulfate proteoglycan binding GO:0043395 9.16 PTPRC APOE
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 SMPD1 GLB1 CHIT1
4 retromer complex binding GO:1905394 8.62 M6PR IGF2R

Sources for Cerebral Lipidosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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