MCID: DMN032
MIFTS: 28

Dementia, Familial British malady

Genetic diseases, Rare diseases, Mental diseases categories

Aliases & Classifications for Dementia, Familial British

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Aliases & Descriptions for Dementia, Familial British:

Name: Dementia, Familial British 49 11 47 65
Presenile Dementia with Spastic Ataxia 45 22 67
Familial British Dementia 45 22 67
Fbd 45 22 67
Cerebral Amyloid Angiopathy, British Type 45 22
 
Cerebral Amyloid Angiopathy, Itm2b-Related 1 67
Itm2b-Related Cerebral Amyloid Angiopathy 1 22
Cerebral Amyloid Angiopathy British Type 67
Dementia Familial British 45
Caa-Itm2b1 67


Classifications:



External Ids:

OMIM49 176500
MedGen34 C1867773
MeSH36 D028243

Summaries for Dementia, Familial British

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UniProtKB/Swiss-Prot:67 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 cerebral amyloid angiopathy and cerebritis, 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 Transport to the Golgi and subsequent modification.

Description from OMIM:49 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 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 8)
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
8 cerebral amyloid angiopathy HP:0011970

Drugs & Therapeutics for Dementia, Familial British

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BenzocaineapprovedPhase 315361994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
20/20 Topical Anesthetic
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
Alcohol Prep Pads
Allegenal-m
Alpha-caine Topical Anesthetic
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anbesol Jr
Anbesol Maximum Strength
Anbesol Regular Strength
Anestenka
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthetic
Anesthone
Atopalm Oral Pain Relief
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Baby Anestenka
Baby Sensigel
Baby Sensigel Night Time Formula
Baby Teething Oral Pain Reliever
Bactimicina For Sore Throat
Bencocaine Topical Anesthetic
Bensokain
Benz O Sthetic
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]
Benzodent
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
Boil Ease
Boy Butter Desensitizing Lubricant
Boy Butter Extreme Desensitizing Lubricant
Boy Butter Extreme H2O Desensitizing Lubricant
Brace Relief
Budpak Baby Teething Oral Pain Reliever
Budpak Oral Maximum Strength
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Carmex Cold Sore Treatment External Analgesic
Caswell No. 430A
Cepacol Fizzlers
Cepacol Sensations Hydra
Cepacol Sensations Sore Throat Hydra citrus splash
Cepacol Sensations Warming
Certus Sting Relief Prep Pad
Chloraseptic
Chloraseptic Warming Sore Throat
Colgate Orabase
Comfortcaine Topical Anesthetic
Cvs Fast Acting Baby Teething
Cvs Maximum Strength
Cvs Maximum Strength Boil Relief
Cvs Oral Anesthetic
Cvs Pharmacy Instant Toothache
Cvs Pharmacy Maximum Strength
Cvs Pharmacy Mouth Sore Gel
Cvs Pharmacy Nighttime Oral Pain Relief
D001566
D00552
DB01086
Dental Relief
Dentek Instant Pain Relief Maximum Strength
Dermoplast
Diet Ayds
DivK1c_000932
Dollar General Toothache Relief
Dukal Sting Relief Pad
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
Finafta Baby
Finafta MultiOral
Formate, Benzocaine
Gelato Topical Anesthetic
Good Neighbor Pain Relief
Goodsense Oral Pain Relief
Gps Topical Anesthetic
Gumnumb Topical Anesthetic
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Heb Severe Toothache
Herbasoul Male Genital Desensitizer Cream
 
Hurricaine
Hurricaine Topical Anesthetic
Hurricaine Topical Anesthetic Gel
Hurricaine Topical Anesthetic Liquid
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
Insect Bite Relief
Instant Toothache Pain Relief
Intense Cvs Intense Toothache
Iodent Maximum Strength Oral Analgesic
Ismile Topical Anesthetic
Jianze Sting Relief Pads
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Kank-a Mouth Pain
Keloform
Kmart Smart Sense
Kroger Toothache Pain Relief
LS-35847
Leader Oral Analgesic
Little Colds Sore Throat Relief Melt Aways
MLS001331704
MLS002153970
Makesense Junior Pain Relief
Makesense Pain Relief
Male Desensitizer Pleasure Balm
Mandelay Male Genital Desensitizer
Mark 3
Methanesulfonate, Benzocaine
MolPort-000-871-526
Mouth Sore Medication
Mouth Sore Relief Applicator
Mouth Sore Relief Professional Strength
My Fair Baby Instant Pain Relief
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Nene Dente
Norcain
Norcaine
Norcainum
Opahl
Opahl Dye Free
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orajel For All Mouth Sores Maximum Strength
Orajel For Cold Sores
Orajel For Toothache Maximum Strength
Orajel Instant Pain Relief Maximum Strength
Orajel Instant Pain Relief Regular Strength
Orajel Instant Relief For Teething Pain
Orajel Instant Relief For Teething Pain Cooling Cucumber
Orajel Instant Relief For Teething Pain Daytime Nighttime Twin Pack
Orajel Instant Relief For Teething Pain Longer Lasting
Orajel Maximum Strength
Orajel Nighttime Instant Relief For Teething Pain Longer Lasting Extra Strength
Orajel Severe Toothache Maximum Strength Fast-Acting Formula
Oral Analgesic Maximum Strength
Oral B Instant Pain Relief
Oral Gel Maximum Strength
Oral Pain Relief Anesthetic Anesthetic
Oral Pain Reliever
Oralabs Cold Sore Treatment
Orthesin
Otocain
Outgro
Pac-dent Top Gel
Pain Relief
Pain Relief Alcohol Swabs
Parathesin
Parathesin (TN)
Parathesine
Physicians Care Sting Relief Pad
Pleasure Balm Kama Sutra
Preboost
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
Purelife Topical Anesthetic
Quality Choice Maximum Strength Oral Pain Relieving
Red Cross Oral Pain Relief
Rexall Maximum Strength
Rite Aid Baby Care
Rite Aid Liquid Anesthetic Oral Pain Relief
Rite Aid Maximum Strength
Rite Aid Oral Pain Reliever
Rite Aid Professional Strength
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Sally Hansen Ouch-relief Numbing Wipes
Sally Hansen Ouch-relief Wax Kit
Sally Hansen Ouch-relief Wax Strip Kit
Sensigel
Severe Oral Pain Reliever
Sheffield Baby Teething Gel
Sheffield Pain Relief
Shunga Male Genital Desensitizer
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Sting Relief Medicated Pad
Sting Relief Pads
Tanac
Terrasil Boil Pain Relief
Tiger Supply Inc Topical Anesthetic
Top Quality Mfg. Topical Anesthetic
Topcaine
Topcare Maximum Strength
Topical Anesthetic Banana
Topical Anesthetic Bubble Gum
Topical Anesthetic Cherry
Topical Anesthetic Mint
Topical Anesthetic Pina Colada
Topical Anesthetic Raspberry
Topical Anesthetic Strawberry
UNII-U3RSY48JW5
Ultracare Anesthetic Bubble Gum
Ultracare Anesthetic Butter Rum
Ultracare Anesthetic Creme de Menthe
Ultracare Anesthetic Pina Colada
Ultracare Anesthetic Walterberry
WLN: ZR DVO2
Walgreens Baby Teething
Walgreens Intense Toothache
Walgreens Maximum Strength
Walgreens Pain Relieving For Boils
Walgreens Severe Oral Pain Reliever
Walgreens Severe Toothache Relief
Winco Foods Maximum Strength Oral Analgesic
ZINC12358719
Zilactin-b
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 acidNutraceuticalPhase 31536
3
saracatinibPhase 229
Synonyms:
AZD 0530
 
AZD0530
saracatinib
4Fluorodeoxyglucose F18Phase 2340

Interventional clinical trials:

idNameStatusNCT IDPhase
1Dominantly 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
2Safety and Efficacy Study Evaluating TRx0237 in Subjects With Mild Alzheimer's DiseaseActive, not recruitingNCT01689233Phase 3
3Safety and Efficacy Study Evaluating TRx0237 in Subjects With Mild to Moderate Alzheimer's DiseaseActive, not recruitingNCT01689246Phase 3
4Open-Label Study of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD)Enrolling by invitationNCT02245568Phase 3
5A Phase IIa Multi-Center Study of 18F-FDG PET, Safety, and Tolerability of AZD0530 in Mild Alzheimer's DiseaseRecruitingNCT02167256Phase 2
6Longitudinal Evaluation of Familial Frontotemporal Dementia SubjectsRecruitingNCT02372773
7Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL)RecruitingNCT02365922
8Cooperative Huntington's Observational Research TrialRecruitingNCT00313495
9Collaborative Power Mobility Innovative Learning OpporTunity (CoPILOT) - A Pilot Study of a New Training ApproachNot yet recruitingNCT02320786

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 Itm2b-Related Cerebral Amyloid Angiopathy 122 ITM2B

Anatomical Context for Dementia, Familial British

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Animal Models for Dementia, Familial British or affiliated genes

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MGI Mouse Phenotypes related to Dementia, Familial British:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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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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
1nuclear envelope lumenGO:00056419.7APP, TUBB
2membrane raftGO:00451219.3APP, FURIN
3extracellular spaceGO:00056158.1APP, FURIN, ITM2B, SERPINI1
4extracellular exosomeGO:00700627.5APP, FURIN, ITM2B, SERPINI1, TUBB

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

idNameGO IDScoreTop Affiliating Genes
1Notch signaling pathwayGO:00072199.8APP, FURIN
2negative regulation of endopeptidase activityGO:00109518.8APP, FURIN, SERPINI1
3cellular protein metabolic processGO:00442678.7APP, FURIN, ITM2B

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

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

Sources for Dementia, Familial British

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet