MCID: CRB176
MIFTS: 35

Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Metabolic diseases, Mental diseases, Cardiovascular diseases, Ear diseases

Aliases & Classifications for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

MalaCards integrated aliases for Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

Name: Cerebral Amyloid Angiopathy, Itm2b-Related, 1 57
Dementia, Familial British 57 76 13 55 73
Presenile Dementia with Spastic Ataxia 57 12 53 75
Fbd 57 12 53 75
Cerebral Amyloid Angiopathy, British Type 57 12 53
Familial British Dementia 12 53 75
Dementia Familial British 53 29 6
Familial Dementia, British Type 53 59
Abri Amyloidosis 53 59
Cerebral Amyloid Angiopathy, Itm2b-Related 1 75
Itm2b-Related Cerebral Amyloid Angiopathy 1 12
Cerebral Amyloid Angiopathy British Type 75
Dementia, Familial British; Fbd 57
Dementia, Familial, British 40
Bri Amyloidosis 53
Caa-Itm2b1 75

Characteristics:

Orphanet epidemiological data:

59
abri amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cerebral amyloid angiopathy, itm2b-related, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 176500
Disease Ontology 12 DOID:0070029
Orphanet 59 ORPHA97345
MESH via Orphanet 45 C538208
UMLS via Orphanet 74 C1867773
ICD10 via Orphanet 34 E85.4+ I68.0*
MedGen 42 C1867773
MeSH 44 D028243
UMLS 73 C1867773

Summaries for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

UniProtKB/Swiss-Prot : 75 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 : Cerebral Amyloid Angiopathy, Itm2b-Related, 1, also known as dementia, familial british, is related to cerebral amyloid angiopathy, cst3-related and dementia. An important gene associated with Cerebral Amyloid Angiopathy, Itm2b-Related, 1 is ITM2B (Integral Membrane Protein 2B), and among its related pathways/superpathways is p75(NTR)-mediated signaling. Affiliated tissues include bone, and related phenotypes are dementia and spasticity

Disease Ontology : 12 A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.

Wikipedia : 76 Familial British dementia is a form of dementia. It was first reported by Cecil Charles Worster-Drought... more...

Description from OMIM: 176500

Related Diseases for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Diseases in the Hereditary Cerebral Amyloid Angiopathy family:

Cerebral Amyloid Angiopathy, Cst3-Related Cerebral Amyloid Angiopathy, Itm2b-Related, 2
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 Cerebral Amyloid Angiopathy, App-Related

Diseases related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, cst3-related 29.6 APP ITM2B
2 dementia 29.0 APP ITM2B SERPINI1
3 cerebritis 10.3
4 alzheimer disease 9.7
5 suprabulbar paresis, congenital 9.7
6 amyloidosis 9.7
7 cerebral amyloid angiopathy, itm2b-related, 2 9.4 ITM2B TUBB

Graphical network of the top 20 diseases related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:



Diseases related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Symptoms & Phenotypes for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Symptoms via clinical synopsis from OMIM:

57
Neuro:
progressive mental deterioration
spasticity
increased dtr
increased muscle tone
muscular rigidity
more
Misc:
onset between age 40 and 60


Clinical features from OMIM:

176500

Human phenotypes related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

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

GenomeRNAi Phenotypes related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1 according to GeneCards Suite gene sharing:

26
# 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 Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Search Clinical Trials , NIH Clinical Center for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Genetic Tests for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Genetic tests related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

# Genetic test Affiliating Genes
1 Dementia Familial British 29 ITM2B

Anatomical Context for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

MalaCards organs/tissues related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

41
Bone

Publications for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Articles related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

# Title Authors Year
1
Cytoskeletal pathology in familial cerebral amyloid angiopathy (British type) with non-neuritic amyloid plaque formation. ( 9928828 )
1999
2
Reply to M. Yamada's letter to the editor: an amyloid protein in familial cerebral amyloid angiopathy (British type) ( 8791257 )
1996
3
C-terminal fragments of alpha- and beta-tubulin form amyloid fibrils in vitro and associate with amyloid deposits of familial cerebral amyloid angiopathy, British type. ( 8619814 )
1996
4
Familial cerebral amyloid angiopathy (British type) with nonneuritic amyloid plaque formation may be due to a novel amyloid protein. ( 7751849 )
1995

Variations for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

ClinVar genetic disease variations for Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

6
# 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
2 ITM2B NM_021999.4(ITM2B): c.799T> A (p.Ter267Arg) single nucleotide variant Pathogenic rs104894417 GRCh38 Chromosome 13, 48261222: 48261222

Expression for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Search GEO for disease gene expression data for Cerebral Amyloid Angiopathy, Itm2b-Related, 1.

Pathways for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Pathways related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1 according to GeneCards Suite gene sharing:

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

GO Terms for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

Cellular components related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1 according to GeneCards Suite gene sharing:

# 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 GO:0005768 9.54 APP FURIN ITM2B
5 endosome membrane GO:0010008 9.43 FURIN ITM2B
6 Golgi lumen GO:0005796 9.4 APP FURIN
7 membrane raft GO:0045121 9.13 APP FURIN TUBB
8 nuclear envelope lumen GO:0005641 8.62 APP TUBB

Biological processes related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1 according to GeneCards Suite gene sharing:

# 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 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 according to GeneCards Suite gene sharing:

# 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 Cerebral Amyloid Angiopathy, Itm2b-Related, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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