CAA-ITM2B1
MCID: CRB176
MIFTS: 38

Cerebral Amyloid Angiopathy, Itm2b-Related, 1 (CAA-ITM2B1)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 58
Dementia, Familial British 58 77 13 56 74
Presenile Dementia with Spastic Ataxia 58 12 54 76
Fbd 58 12 54 76
Cerebral Amyloid Angiopathy, British Type 58 12 54
Familial British Dementia 12 54 76
Dementia Familial British 54 30 6
Itm2b-Related Cerebral Amyloid Angiopathy 1 12 15
Familial Dementia, British Type 54 60
Abri Amyloidosis 54 60
Cerebral Amyloid Angiopathy, Itm2b-Related 1 76
Cerebral Amyloid Angiopathy British Type 76
Dementia, Familial British; Fbd 58
Dementia, Familial, British 41
Bri Amyloidosis 54
Caa-Itm2b1 76

Characteristics:

Orphanet epidemiological data:

60
abri amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cerebral amyloid angiopathy, itm2b-related, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070029
OMIM 58 176500
MeSH 45 D028243
MESH via Orphanet 46 C538208
ICD10 via Orphanet 35 E85.4+ I68.0*
UMLS via Orphanet 75 C1867773
Orphanet 60 ORPHA97345
MedGen 43 C1867773
UMLS 74 C1867773

Summaries for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 97345Disease definitionABri amyloidosis is a rare, neurodegenerative disease characterized by progressive cognitive impairment, spastic tetraparesis, and cerebellar ataxia resulting from amyloid deposits in the brain. Spasticity with increased deep tendon reflexes and tone are early symptoms, muscular rigidity evolves later. Progressive mental deterioration usually starts with apathy and impaired memory with progression to complete disorientation.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cerebral Amyloid Angiopathy, Itm2b-Related, 1, also known as dementia, familial british, is related to dementia and cerebral amyloid angiopathy, cst3-related. 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 brain and bone, and related phenotypes are spasticity and tremor

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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 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

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

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 tremor 33 HP:0001337
3 hypertonia 33 HP:0001276
4 rigidity 33 HP:0002063
5 dementia 33 HP:0000726
6 progressive neurologic deterioration 33 HP:0002344
7 cerebral amyloid angiopathy 33 HP:0011970

Symptoms via clinical synopsis from OMIM:

58
Neuro:
spasticity
progressive mental deterioration
increased dtr
increased muscle tone
muscular rigidity
more
Misc:
onset between age 40 and 60

Clinical features from OMIM:

176500

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

27
# 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 30 ITM2B

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

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

42
Brain, 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
An amyloid protein in familial cerebral amyloid angiopathy (British type) ( 8867077 )
1996
5
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 space GO:0005615 9.72 APP FURIN ITM2B SERPINA3 SERPINI1
2 endosome GO:0005768 9.65 APP FURIN ITM2B
3 extracellular region GO:0005576 9.63 APP FURIN ITM2B SERPINA3 SERPINI1 TUBB
4 secretory granule lumen GO:0034774 9.46 SERPINA3 SERPINI1
5 Golgi lumen GO:0005796 9.43 APP FURIN
6 membrane raft GO:0045121 9.43 APP FURIN TUBB
7 extracellular exosome GO:0070062 9.43 APP FURIN ITM2B SERPINA3 SERPINI1 TUBB
8 azurophil granule lumen GO:0035578 9.4 SERPINA3 TUBB
9 platelet alpha granule lumen GO:0031093 9.37 APP SERPINA3
10 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 9.43 APP FURIN ITM2B
2 platelet degranulation GO:0002576 9.32 APP SERPINA3
3 cellular process GO:0009987 9.16 APP TUBB
4 negative regulation of peptidase activity GO:0010466 9.13 APP SERPINA3 SERPINI1
5 negative regulation of endopeptidase activity GO:0010951 8.92 APP FURIN SERPINA3 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 9.13 APP SERPINA3 SERPINI1
2 serine-type endopeptidase inhibitor activity GO:0004867 8.92 APP FURIN SERPINA3 SERPINI1

Sources for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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