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

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Dementia, Familial British:

Name: Dementia, Familial British 52 24 12 50 68
Presenile Dementia with Spastic Ataxia 48 24 70
Familial Dementia, British Type 48 54 27
Fbd 48 24 70
Cerebral Amyloid Angiopathy, British Type 48 24
Familial British Dementia 48 70
Abri Amyloidosis 48 54
 
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 52
Cerebral Amyloid Angiopathy, Itm2b-Related 1 70
Itm2b-Related Cerebral Amyloid Angiopathy 1 24
Cerebral Amyloid Angiopathy British Type 70
Dementia Familial British 48
Bri Amyloidosis 48
Caa-Itm2b1 70

Characteristics:

Orphanet epidemiological data:

54
familial dementia, british type:
Inheritance: Autosomal dominant; Age of onset: Adult

HPO:

64
dementia, familial british:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 176500
Orphanet54 ORPHA97345
MESH via Orphanet40 C538208
UMLS via Orphanet69 C1867773
ICD10 via Orphanet31 E85.4+, I68.0*
MedGen37 C1867773
MeSH39 D028243

Summaries for Dementia, Familial British

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UniProtKB/Swiss-Prot:70 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 dementia, spasticity and hypertonia. An important gene associated with Dementia, Familial British is ITM2B (Integral Membrane Protein 2B), and among its related pathways is p75(NTR)-mediated signaling. Affiliated tissues include bone, and related mouse phenotype Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation.

Description from OMIM:52 176500

Related Diseases for Dementia, Familial British

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Graphical network of diseases related to Dementia, Familial British:



Diseases related to dementia, familial british

Symptoms & Phenotypes for Dementia, Familial British

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Symptoms by clinical synopsis from OMIM:

176500

Clinical features from OMIM:

176500

Human phenotypes related to Dementia, Familial British:

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 dementia64 HP:0000726
2 spasticity64 HP:0001257
3 hypertonia64 HP:0001276
4 tremor64 HP:0001337
5 rigidity64 HP:0002063
6 progressive neurologic deterioration64 HP:0002344
7 cerebral amyloid angiopathy64 HP:0011970

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00016-A8.6APP, FURIN, TUBB

Drugs & Therapeutics for Dementia, Familial British

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BenzocaineapprovedPhase 320161994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
2tannic acidapproved, NutraceuticalPhase 32016
3Antibodies, MonoclonalPhase 2, Phase 34039
4ImmunoglobulinsPhase 2, Phase 36394
5AntibodiesPhase 2, Phase 36394
6
saracatinibPhase 232
Synonyms:
AZD 0530
 
AZD0530
saracatinib
7RadiopharmaceuticalsPhase 2514
8Fluorodeoxyglucose F18Phase 2412
9glutamineNutraceutical162

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Efficacy Study Evaluating TRx0237 in Subjects With Mild Alzheimer's DiseaseCompletedNCT01689233Phase 3
2Safety and Efficacy Study Evaluating TRx0237 in Subjects With Mild to Moderate Alzheimer's DiseaseCompletedNCT01689246Phase 3
3A Study of Crenezumab Versus Placebo to Evaluate the Efficacy and Safety in Participants With Prodromal to Mild Alzheimer's Disease (AD)RecruitingNCT03114657Phase 3
4Dominantly 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 recruitingNCT01760005Phase 2, Phase 3
5A Phase IIa Multi-Center Study of 18F-FDG PET, Safety, and Tolerability of AZD0530 in Mild Alzheimer's DiseaseActive, not recruitingNCT02167256Phase 2
6Longitudinal Evaluation of Familial Frontotemporal Dementia SubjectsRecruitingNCT02372773
7Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL)RecruitingNCT02365922
8Patient-Centred Innovations for Persons With Multimorbidity - QuebecRecruitingNCT02789800
9Cooperative Huntington's Observational Research TrialRecruitingNCT00313495
10HDClarity: a Multi-site Cerebrospinal Fluid Collection Initiative to Facilitate Therapeutic Development for Huntington's DiseaseRecruitingNCT02855476

Search NIH Clinical Center for Dementia, Familial British

Genetic Tests for Dementia, Familial British

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Genetic tests related to Dementia, Familial British:

id Genetic test Affiliating Genes
1 Dementia Familial British27
2 Itm2b-Related Cerebral Amyloid Angiopathy 124 ITM2B

Anatomical Context for Dementia, Familial British

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MalaCards organs/tissues related to Dementia, Familial British:

36
Bone

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)SNVPathogenicrs104894417GRCh37Chr 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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4APP, FURIN

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
1endosome membraneGO:001000810.3FURIN, ITM2B
2Golgi lumenGO:000579610.0APP, FURIN
3nuclear envelope lumenGO:00056419.1APP, TUBB
4extracellular spaceGO:00056159.0APP, FURIN, ITM2B, SERPINI1
5membrane raftGO:00451218.8APP, FURIN, TUBB
6extracellular exosomeGO:00700628.3APP, FURIN, ITM2B, SERPINI1, TUBB
7extracellular regionGO:00055768.3APP, FURIN, ITM2B, SERPINI1, TUBB

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:003019810.0APP, FURIN
2cellular processGO:00099879.8APP, TUBB
3cellular protein metabolic processGO:00442679.6APP, FURIN, ITM2B
4negative regulation of endopeptidase activityGO:00109519.4APP, FURIN, SERPINI1
5negative regulation of peptidase activityGO:00104669.3APP, SERPINI1

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

idNameGO IDScoreTop Affiliating Genes
1peptidase inhibitor activityGO:00304149.9APP, SERPINI1
2serine-type endopeptidase inhibitor activityGO:00048678.8APP, FURIN, SERPINI1

Sources for Dementia, Familial British

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet