FBD
MCID: DMN003
MIFTS: 20

Dementia Familial British (FBD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Summaries for Dementia Familial British

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Sources:
48OMIM, 34MalaCards
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MalaCards: Dementia Familial British, also known as dementia, familial british, is related to cerebral amyloid angiopathy and cerebritis. An important gene associated with Dementia Familial British is ITM2B (integral membrane protein 2B). Affiliated tissues include brain.

Description from OMIM:48 176500

Aliases & Classifications for Dementia Familial British

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Sources:
44NIH Rare Diseases, 48OMIM, 46Novoseek, 63UMLS, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

dementia familial british 44
dementia, familial british 48 46 63
cerebral amyloid angiopathy, british type 44
presenile dementia with spastic ataxia 44
familial dementia, british type 50
familial british dementia 44
fbd 44


External Ids:

OMIM48 176500
MESH via Orphanet37 C538208
ICD10 via Orphanet27 G31.0
UMLS via Orphanet64 C1867773

Related Diseases for Dementia Familial British

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Dementia Familial British via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebral amyloid angiopathy10.7
2cerebritis10.7
3dementia10.3
4amyloidosis10.2
5worster drought syndrome10.2

Graphical network of diseases related to Dementia Familial British:



Diseases related to dementia familial british

Symptoms for Dementia Familial British

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

176500

Clinical features from OMIM:

176500

Drugs & Therapeutics for Dementia Familial British

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Dementia Familial British

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:
34MalaCards
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MalaCards organs/tissues related to Dementia Familial British:

34
Brain

Animal Models for Dementia Familial British or affiliated genes

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Publications for Dementia Familial British

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Variations for Dementia Familial British

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Dementia Familial British:

1
id Gene Name Type Significance SNP ID Assembly Location
1ITM2BNM_021999.4(ITM2B): c.799T> A (p.Ter267Arg)single nucleotide variantPathogenicrs104894417GRCh37Chr 13, 48835358: 48835358

Expression for genes affiliated with Dementia Familial British

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Sources:
2BioGPS, 16Gene 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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Compounds for genes affiliated with Dementia Familial British

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GO Terms for genes affiliated with Dementia Familial British

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet