MCID: DMN032
MIFTS: 34

Dementia, Familial British malady

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

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:47 176500

Aliases & Classifications for Dementia, Familial British

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 45Novoseek, 49Orphanet, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Dementia, Familial British, Aliases & Descriptions:

Name: Dementia, Familial British 47 11 45
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 47
Cerebral Amyloid Angiopathy, British Type 43
Presenile Dementia with Spastic Ataxia 43
 
Familial Dementia, British Type 49
Dementia Familial British 43
Familial British Dementia 43
Fbd 43


Classifications:

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


External Ids:

OMIM47 176500
Orphanet49 97345
MESH via Orphanet36 C538208
ICD10 via Orphanet28 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:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral amyloid angiopathy31.1ITM2B, APP
2dementia30.5APP, SERPINI1, ITM2B
3amyloidosis30.3FURIN, ITM2B, APP
4alzheimer disease30.1TUBB, ITM2B, SERPINI1, APP, FURIN
5cerebritis10.7
6worster drought syndrome10.2
7tauopathy10.0APP, SERPINI1
8dementia, frontotemporal10.0APP, SERPINI1
9brain disease10.0APP, SERPINI1
10embryonal cancer10.0APP, TUBB
11huntington disease10.0SERPINI1, APP
12prion disease10.0TUBB, APP

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:

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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Clinvar genetic disease variations for Dementia, Familial British:

7
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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.4APP, FURIN
2
Show member pathways
Delta-Notch Signaling Pathway38
Notch Signaling Pathway38
9.4APP, FURIN
39.1APP, TUBB
49.0ITM2B, APP, FURIN

Compounds for genes affiliated with Dementia, Familial British

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Sources:
45Novoseek, 26HMDB
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Compounds related to Dementia, Familial British according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1leupeptin459.7APP, FURIN
2copper45 2610.6APP, FURIN
3formate459.5APP, TUBB
43-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.4TUBB, APP
5deoxyribonucleic acid459.4FURIN, TUBB
6sodium dodecylsulfate459.4APP, TUBB
7thymidylate459.4APP, TUBB
8formaldehyde45 2610.3APP, TUBB
9carbon459.2TUBB, APP
10valine459.2APP, TUBB
11gaba459.1APP, TUBB
12polyacrylamide459.0TUBB, FURIN
13glutamine458.9APP, FURIN, TUBB
14adenylate458.9TUBB, FURIN, APP
15alanine458.8TUBB, FURIN, APP
16phenylalanine458.8TUBB, FURIN
17cysteine458.8TUBB, FURIN, APP
18lipid458.6APP, FURIN, TUBB
19serine458.3TUBB, 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/GeneDecks:

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/GeneDecks:

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/GeneDecks:

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

Products for genes affiliated with Dementia, Familial British

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Sources for Dementia, Familial British

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet