MCID: DMN032
MIFTS: 30

Dementia, Familial British malady

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

Aliases & Classifications for Dementia, Familial British

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Sources:
46OMIM, 9diseasecard, 44Novoseek, 61UMLS, 42NIH Rare Diseases, 48Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Dementia, Familial British:

Name: Dementia, Familial British 46 9 44 61
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 46
Cerebral Amyloid Angiopathy, British Type 42
Presenile Dementia with Spastic Ataxia 42
 
Familial Dementia, British Type 48
Dementia Familial British 42
Familial British Dementia 42
Fbd 42


Classifications:



External Ids:

OMIM46 176500
Orphanet48 97345
MESH via Orphanet34 C538208
ICD10 via Orphanet26 G31.0
UMLS via Orphanet62 C1867773

Summaries for Dementia, Familial British

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MalaCards based summary: Dementia, Familial British, also known as cerebral amyloid angiopathy, itm2b-related, 1, is related to cerebral amyloid angiopathy and dementia, and has symptoms including autosomal dominant inheritance, dementia and spasticity. An important gene associated with Dementia, Familial British is ITM2B (integral membrane protein 2B), and among its related pathways are p75(NTR)-mediated signaling and Notch signaling pathway. The compounds leupeptin and copper have been mentioned in the context of this disorder. Affiliated tissues include brain.

Description from OMIM:46 176500

Related Diseases for Dementia, Familial British

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Diseases related to Dementia, Familial British via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral amyloid angiopathy31.3APP, ITM2B
2dementia30.3ITM2B, SERPINI1, APP
3amyloidosis30.1FURIN, APP, ITM2B
4alzheimer disease29.2TUBB, FURIN, APP, SERPINI1, ITM2B
5cerebritis10.7
6worster drought syndrome10.2
7tauopathy10.0SERPINI1, APP
8dementia, frontotemporal10.0SERPINI1, APP
9brain disease10.0SERPINI1, APP
10embryonal cancer9.9APP, TUBB
11huntington disease9.8SERPINI1, APP
12prion disease9.8APP, TUBB

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:

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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MalaCards organs/tissues related to Dementia, Familial British:

31
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:

5
id Gene Variation 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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Search GEO for disease gene expression data for Dementia, Familial British.

Pathways for genes affiliated with Dementia, Familial British

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Pathways related to Dementia, Familial British according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4APP, FURIN
2
Show member pathways
Delta-Notch Signaling Pathway36
Notch Signaling Pathway36
9.4APP, FURIN
39.1APP, TUBB
49.0ITM2B, APP, FURIN

Compounds for genes affiliated with Dementia, Familial British

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Sources:
44Novoseek, 24HMDB
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Compounds related to Dementia, Familial British according to GeneCards Suite gene sharing:

(show all 19)
idCompoundScoreTop Affiliating Genes
1leupeptin449.7APP, FURIN
2copper44 2410.6APP, FURIN
3formate449.5APP, TUBB
43-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.4TUBB, APP
5deoxyribonucleic acid449.4FURIN, TUBB
6sodium dodecylsulfate449.4APP, TUBB
7thymidylate449.4APP, TUBB
8formaldehyde44 2410.3APP, TUBB
9carbon449.2TUBB, APP
10valine449.2APP, TUBB
11gaba449.1APP, TUBB
12polyacrylamide449.0TUBB, FURIN
13glutamine448.9APP, FURIN, TUBB
14adenylate448.9TUBB, FURIN, APP
15alanine448.8TUBB, FURIN, APP
16phenylalanine448.8TUBB, FURIN
17cysteine448.8TUBB, FURIN, APP
18lipid448.6APP, FURIN, TUBB
19serine448.3TUBB, FURIN, APP, SERPINI1

GO Terms for genes affiliated with Dementia, Familial British

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Cellular components related to Dementia, Familial British according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.9ITM2B, SERPINI1, FURIN
2extracellular vesicular exosomeGO:00700627.9ITM2B, APP, FURIN, TUBB

Biological processes related to Dementia, Familial British according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Notch signaling pathwayGO:00072199.4APP, FURIN
2negative regulation of endopeptidase activityGO:00109518.5SERPINI1, APP, FURIN

Molecular functions related to Dementia, Familial British according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase inhibitor activityGO:00048678.8SERPINI1, APP, FURIN

Sources for Dementia, Familial British

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet