CAA-ITM2B1
MCID: DMN032
MIFTS: 36

Dementia, Familial British (CAA-ITM2B1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Mental diseases

Aliases & Classifications for Dementia, Familial British

Aliases & Descriptions for Dementia, Familial British:

Name: Dementia, Familial British 54 24 13 52 69
Presenile Dementia with Spastic Ataxia 50 24 66
Familial Dementia, British Type 50 56 29
Fbd 50 24 66
Cerebral Amyloid Angiopathy, British Type 50 24
Familial British Dementia 50 66
Abri Amyloidosis 50 56
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 54
Cerebral Amyloid Angiopathy, Itm2b-Related 1 66
Itm2b-Related Cerebral Amyloid Angiopathy 1 24
Cerebral Amyloid Angiopathy British Type 66
Dementia Familial British 50
Bri Amyloidosis 50
Caa-Itm2b1 66

Characteristics:

Orphanet epidemiological data:

56
abri amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult;

HPO:

32
dementia, familial british:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 176500
Orphanet 56 ORPHA97345
MESH via Orphanet 43 C538208
UMLS via Orphanet 70 C1867773
ICD10 via Orphanet 34 E85.4+ I68.0*
MedGen 40 C1867773
MeSH 42 D028243

Summaries for Dementia, Familial British

UniProtKB/Swiss-Prot : 66 Cerebral amyloid angiopathy, ITM2B-related 1: A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity.

MalaCards based summary : Dementia, Familial British, also known as presenile dementia with spastic ataxia, is related to dementia and cerebral amyloid angiopathy, and has symptoms including tremor, spasticity and hypertonia. An important gene associated with Dementia, Familial British is ITM2B (Integral Membrane Protein 2B), and among its related pathways/superpathways is p75(NTR)-mediated signaling. The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotype is Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation.

Description from OMIM: 176500

Related Diseases for Dementia, Familial British

Graphical network of the top 20 diseases related to Dementia, Familial British:



Diseases related to Dementia, Familial British

Symptoms & Phenotypes for Dementia, Familial British

Symptoms by clinical synopsis from OMIM:

176500

Clinical features from OMIM:

176500

Human phenotypes related to Dementia, Familial British:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 spasticity 32 HP:0001257
3 hypertonia 32 HP:0001276
4 rigidity 32 HP:0002063
5 dementia 32 HP:0000726
6 progressive neurologic deterioration 32 HP:0002344
7 cerebral amyloid angiopathy 32 HP:0011970

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 APP FURIN TUBB

Drugs & Therapeutics for Dementia, Familial British

Drugs for Dementia, Familial British (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
2 tannic acid Approved, Nutraceutical Phase 3
3 Immunoglobulins Phase 2, Phase 3
4 Antibodies, Monoclonal Phase 2, Phase 3
5 Antibodies Phase 2, Phase 3
6
saracatinib Phase 2
7 Fluorodeoxyglucose F18 Phase 2
8 Radiopharmaceuticals Phase 2
9 glutamine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Safety and Efficacy Study Evaluating TRx0237 in Subjects With Mild Alzheimer's Disease Completed NCT01689233 Phase 3
2 Safety and Efficacy Study Evaluating TRx0237 in Subjects With Mild to Moderate Alzheimer's Disease Completed NCT01689246 Phase 3
3 A Study of Crenezumab Versus Placebo to Evaluate the Efficacy and Safety in Participants With Prodromal to Mild Alzheimer's Disease (AD) Recruiting NCT03114657 Phase 3
4 Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation. Active, not recruiting NCT01760005 Phase 2, Phase 3
5 A Phase IIa Multi-Center Study of 18F-FDG PET, Safety, and Tolerability of AZD0530 in Mild Alzheimer's Disease Active, not recruiting NCT02167256 Phase 2
6 Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects Recruiting NCT02372773
7 Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) Recruiting NCT02365922
8 Patient-Centred Innovations for Persons With Multimorbidity - Quebec Recruiting NCT02789800
9 Cooperative Huntington's Observational Research Trial Recruiting NCT00313495
10 HDClarity: a Multi-site Cerebrospinal Fluid Collection Initiative to Facilitate Therapeutic Development for Huntington's Disease Recruiting NCT02855476

Search NIH Clinical Center for Dementia, Familial British

Genetic Tests for Dementia, Familial British

Genetic tests related to Dementia, Familial British:

id Genetic test Affiliating Genes
1 Dementia Familial British 29
2 Itm2b-Related Cerebral Amyloid Angiopathy 1 24 ITM2B

Anatomical Context for Dementia, Familial British

MalaCards organs/tissues related to Dementia, Familial British:

39
Bone

Publications for Dementia, Familial British

Variations for Dementia, Familial British

ClinVar genetic disease variations for Dementia, Familial British:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ITM2B NM_021999.4(ITM2B): c.799T> A (p.Ter267Arg) single nucleotide variant Pathogenic rs104894417 GRCh37 Chromosome 13, 48835358: 48835358

Expression for Dementia, Familial British

Search GEO for disease gene expression data for Dementia, Familial British.

Pathways for Dementia, Familial British

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.44 APP FURIN

GO Terms for Dementia, Familial British

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.65 APP FURIN ITM2B SERPINI1 TUBB
2 extracellular space GO:0005615 9.62 APP FURIN ITM2B SERPINI1
3 extracellular region GO:0005576 9.55 APP FURIN ITM2B SERPINI1 TUBB
4 endosome membrane GO:0010008 9.4 FURIN ITM2B
5 Golgi lumen GO:0005796 9.37 APP FURIN
6 membrane raft GO:0045121 9.13 APP FURIN TUBB
7 nuclear envelope lumen GO:0005641 8.62 APP TUBB

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

id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.33 APP FURIN ITM2B
2 extracellular matrix organization GO:0030198 9.32 APP FURIN
3 negative regulation of peptidase activity GO:0010466 9.26 APP SERPINI1
4 cellular process GO:0009987 8.96 APP TUBB
5 negative regulation of endopeptidase activity GO:0010951 8.8 APP FURIN SERPINI1

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

id Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 8.96 APP SERPINI1
2 serine-type endopeptidase inhibitor activity GO:0004867 8.8 APP FURIN SERPINI1

Sources for Dementia, Familial British

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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