FBD
MCID: DMN003
MIFTS: 20

Dementia Familial British (FBD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Dementia Familial British

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Sources:
47OMIM, 33MalaCards
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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:47 176500

Aliases & Classifications for Dementia Familial British

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Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 62UMLS, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS 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 43
dementia, familial british 47 45 62
cerebral amyloid angiopathy, british type 43
presenile dementia with spastic ataxia 43
familial dementia, british type 49
familial british dementia 43
fbd 43


External Ids:

OMIM47 176500
MESH via Orphanet36 C538208
ICD10 via Orphanet26 G31.0
UMLS via Orphanet63 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:

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:
47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Dementia Familial British

Search NIH Clinical Center 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:
33MalaCards
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MalaCards organs/tissues related to Dementia Familial British:

33
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, 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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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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet