FBD
MCID: DMN003
MIFTS: 30

Dementia Familial British (FBD) malady

Neuronal diseases, Genetic diseases categories

Summaries for Dementia Familial British

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Sources:
46OMIM, 32MalaCards
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MalaCards: Dementia Familial British, also known as dementia, familial british, is related to cerebral amyloid angiopathy and dementia. An important gene associated with Dementia Familial British is ITM2B (integral membrane protein 2B), and among its related pathways are Packaging Of Telomere Ends and p75(NTR)-mediated signaling. The compounds deoxyribonucleic acid and formate have been mentioned in the context of this disorder. Affiliated tissues include brain.

Description from OMIM:46 176500

Aliases & Classifications for Dementia Familial British

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Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

dementia familial british 42
dementia, familial british 46 44 60
cerebral amyloid angiopathy, british type 42
presenile dementia with spastic ataxia 42
familial dementia, british type 48
familial british dementia 42
fbd 42


External Ids:

OMIM46 176500
MESH via Orphanet35 C538208
ICD10 via Orphanet26 G31.0
UMLS via Orphanet61 C1867773

Related Diseases for Dementia Familial British

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Dementia Familial British via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral amyloid angiopathy31.0ITM2B, APP
2dementia30.4ITM2B, APP, SERPINI1
3brain disease30.1SERPINI1, APP
4amyloidosis30.1APP, ITM2B, FURIN
5cerebritis10.7
6image syndrome10.1
7multiple sclerosis10.0TUBB
8polyneuropathy10.0TUBB
9prion disease10.0APP, TUBB
10tauopathy10.0SERPINI1, APP
11frontotemporal dementia10.0APP, SERPINI1
12huntington's disease10.0SERPINI1, APP
13embryonal cancer10.0TUBB, APP
14alzheimer's disease10.0FURIN, SERPINI1, TUBB, ITM2B, APP

Graphical network of diseases related to Dementia Familial British:



Diseases related to dementia familial british

Clinical Features for Dementia Familial British

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Sources:
46OMIM
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Clinical features from OMIM:

176500

Clinical synopsis from OMIM:

176500

Drugs & Therapeutics for Dementia Familial British

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Dementia Familial British

Search NIH Clinical Center for Dementia Familial British

Search CenterWatch for Dementia Familial British

Genetic Tests for Dementia Familial British

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Anatomical Context for Dementia Familial British

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Sources:
32MalaCards
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MalaCards organs/tissues related to Dementia Familial British:

32
Brain

Animal Models for Dementia Familial British or affiliated genes

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Publications for Dementia Familial British

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Genetic Variations for Dementia Familial British

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Expression for genes affiliated with Dementia Familial British

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dementia Familial British

Search GEO for disease gene expression data for Dementia Familial British.

Pathways for genes affiliated with Dementia Familial British

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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Dementia Familial British according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.2ITM2B, APP
29.1FURIN, APP
3
Hide members
9.1FURIN, APP
48.7FURIN, ITM2B, APP

Compounds for genes affiliated with Dementia Familial British

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Sources:
44Novoseek
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Compounds related to Dementia Familial British according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1deoxyribonucleic acid449.5FURIN, TUBB
2formate449.4APP, TUBB
33-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.3APP, TUBB
4leupeptin449.3FURIN, APP
5sodium dodecylsulfate449.0TUBB, APP
6thymidylate448.8APP, TUBB
7glutamine448.8TUBB, APP, FURIN
8adenylate448.6FURIN, APP, TUBB
9alanine448.6FURIN, APP, TUBB
10serine448.1TUBB, APP, SERPINI1, FURIN

GO Terms for genes affiliated with Dementia Familial British

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Sources:
16Gene Ontology
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Cellular components related to Dementia Familial British according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.9FURIN, SERPINI1, ITM2B

Biological processes related to Dementia Familial British according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Notch signaling pathwayGO:0072199.1FURIN, APP

Molecular functions related to Dementia Familial British according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:0048678.5FURIN, SERPINI1, APP

Products for genes affiliated with Dementia Familial British

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Dementia Familial British

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet