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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MalaCards based summary: Dementia Familial British, also known as dementia, familial british, is related to cerebral amyloid angiopathy and cerebritis, and has symptoms including An important gene associated with Dementia Familial British is ITM2B (integral membrane protein 2B). 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, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Dementia Familial British, Aliases & Descriptions:

Name: Dementia Familial British 42
Dementia, Familial British 46 44 62
Presenile Dementia with Spastic Ataxia 42 62
Cerebral Amyloid Angiopathy, British Type 42
 
Familial Dementia, British Type 48
Familial British Dementia 42
Fbd 42


Classifications:

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


External Ids:

OMIM46 176500
MESH via Orphanet35 C538208
ICD10 via Orphanet26 G31.0
UMLS via Orphanet63 C1867773

Related Diseases for Dementia Familial British

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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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Symptoms by clinical synopsis from OMIM:

176500

Clinical features from OMIM:

176500

HPO human phenotypes related to Dementia Familial British:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dementia HP:0000726
3 spasticity HP:0001257
4 hypertonia HP:0001276
5 tremor HP:0001337
6 rigidity HP:0002063
7 progressive neurologic deterioration HP:0002344

Drugs & Therapeutics for Dementia Familial British

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Drug clinical trials:

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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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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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Variations for Dementia Familial British

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Clinvar genetic disease variations for Dementia Familial British:

6
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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Expression patterns in normal tissues for genes affiliated with Dementia Familial British

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet