FBD
MCID: DMN003
MIFTS: 30

Dementia Familial British (FBD) malady

Neuronal, Genetic categories

Summaries for Dementia Familial British

Sources:
47OMIM, 33MalaCards
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MalaCards: Dementia Familial British, also known as dementia, familial british, is related to cerebral amyloid angiopathy and brain disease. 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:47 176500

Aliases & Classifications for Dementia Familial British

Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 61UMLS, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

dementia familial british 43
dementia, familial british 47 45 61
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 Orphanet62 C1867773

Related Diseases for Dementia Familial British

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

Graphical network of diseases related to Dementia Familial British:



Diseases related to dementia familial british

Clinical Features for Dementia Familial British

Sources:
47OMIM
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Clinical features from OMIM:

176500

Clinical synopsis from OMIM:

176500

Drugs & Therapeutics for Dementia Familial British

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Dementia Familial British

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

Sources:
28inGenious Targeting Laboratory
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Publications for Dementia Familial British

Sources:
51PubMed
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Articles related to Dementia Familial British:

(show all 25)
idTitleAuthorsYear
1
Amyloid peptides ABri and ADan show differential neurotoxicity in transgenic Drosophila models of familial British and Danish dementia. (24405716)
2014
2
Abundant pyroglutamate-modified ABri and ADan peptides in extracellular and vascular amyloid deposits in familial British and Danish dementias. (23261769)
2013
3
11C-PiB PET ABri imaging in Worster-Drought syndrome (familial British dementia): a case report. (20110591)
2010
4
Modeling familial British and Danish dementia. (19779737)
2010
5
Memory deficits due to familial British dementia BRI2 mutation are caused by loss of BRI2 function rather than amyloidosis. (21048150)
2010
6
TDP-43 pathology in familial British dementia. (19283396)
2009
7
Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. (18282158)
2008
8
Preferential association of serum amyloid P component with fibrillar deposits in familial British and Danish dementias: similarities with Alzheimer's disease. (17374542)
2007
9
Genetic alterations of the BRI2 gene: familial British and Danish dementias. (16612984)
2006
10
Hydrogen peroxide is generated during the very early stages of aggregation of the amyloid peptides implicated in Alzheimer disease and familial British dementia. (16141213)
2005
11
Insulin-degrading enzyme degrades amyloid peptides associated with British and Danish familial dementia. (15913558)
2005
12
ABri peptide associated with familial British dementia forms annular and ring-like protofibrillar structures. (15185493)
2004
13
Expression of BRI, the normal precursor of the amyloid protein of familial British dementia, in human brain. (14586629)
2004
14
Familial British dementia: colocalization of furin and ABri amyloid. (12883829)
2003
15
Proteolytic processing of familial British dementia-associated BRI variants: evidence for enhanced intracellular accumulation of amyloidogenic peptides. (11709554)
2002
16
Systemic amyloid deposits in familial British dementia. (11557758)
2001
17
Regional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementia. (11159188)
2001
18
Non-fibrillar oligomeric species of the amyloid ABri peptide, implicated in familial British dementia, are more potent at inducing apoptotic cell death than protofibrils or mature fibrils. (11419943)
2001
19
Effect of the disulfide bridge and the C-terminal extension on the oligomerization of the amyloid peptide ABri implicated in familial British dementia. (11297410)
2001
20
Amyloidogenesis in familial British dementia is associated with a genetic defect on chromosome 13. (11193180)
2000
21
Familial British dementia with amyloid angiopathy: early clinical, neuropsychological and imaging findings. (10775542)
2000
22
Familial British dementia: expression and metabolism of BRI. (11193182)
2000
23
A newly formed amyloidogenic fragment due to a stop codon mutation causes familial British dementia. (10818498)
2000
24
A stop-codon mutation in the BRI gene associated with familial British dementia. (10391242)
1999
25
Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia. (10526337)
1999

Genetic Variations for Dementia Familial British

Expression for genes affiliated with Dementia Familial British

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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
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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

Sources:
45Novoseek
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Compounds related to Dementia Familial British according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1deoxyribonucleic acid459.5FURIN, TUBB
2formate459.4APP, TUBB
33-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.3APP, TUBB
4leupeptin459.3FURIN, APP
5sodium dodecylsulfate459.0TUBB, APP
6thymidylate458.8APP, TUBB
7glutamine458.8TUBB, APP, FURIN
8adenylate458.6FURIN, APP, TUBB
9alanine458.6FURIN, APP, TUBB
10serine458.1TUBB, APP, SERPINI1, FURIN

GO Terms for genes affiliated with Dementia Familial British

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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  • Proteins
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Sources for Dementia Familial British

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet