CAA-ITM2B1
MCID: CRB176
MIFTS: 44

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 56
Dementia, Familial British 56 74 13 54 71
Presenile Dementia with Spastic Ataxia 56 12 52 73
Abri Amyloidosis 52 58 29 6
Fbd 56 12 52 73
Cerebral Amyloid Angiopathy, British Type 56 12 52
Familial British Dementia 12 52 73
Itm2b-Related Cerebral Amyloid Angiopathy 1 12 15
Familial Dementia, British Type 52 58
Cerebral Amyloid Angiopathy, Itm2b-Related 1 73
Cerebral Amyloid Angiopathy British Type 73
Dementia, Familial British; Fbd 56
Dementia, Familial, British 39
Dementia Familial British 52
Bri Amyloidosis 52
Caa-Itm2b1 73

Characteristics:

Orphanet epidemiological data:

58
abri amyloidosis
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cerebral amyloid angiopathy, itm2b-related, 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0070029
OMIM 56 176500
MeSH 43 D028243
MESH via Orphanet 44 C538208
ICD10 via Orphanet 33 E85.4+ I68.0*
UMLS via Orphanet 72 C1867773
Orphanet 58 ORPHA97345
MedGen 41 C1867773
UMLS 71 C1867773

Summaries for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 97345 Definition 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 hereditary cerebral amyloid angiopathy and hereditary amyloidosis. An important gene associated with Cerebral Amyloid Angiopathy, Itm2b-Related, 1 is ITM2B (Integral Membrane Protein 2B), and among its related pathways/superpathways are Notch Signaling Pathway (WikiPathways) and Neuroscience. Affiliated tissues include brain and bone, and related phenotypes are hypertonia 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.

UniProtKB/Swiss-Prot : 73 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 : 74 Familial British dementia is a form of dementia. It was first reported by Cecil Charles Worster-Drought... more...

More information 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:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 hereditary cerebral amyloid angiopathy 32.5 CST3 APP
2 hereditary amyloidosis 30.6 GSN FURIN
3 cerebral amyloid angiopathy, itm2b-related, 2 30.0 SPPL2B SERPINA3 ITM2C ITM2B FURIN APP
4 vascular dementia 29.7 SERPINA3 PSEN1 PRNP CST3 APP
5 dementia 29.1 SERPINI1 SERPINA3 PSEN2 PSEN1 PRNP ITM2B
6 cerebral amyloid angiopathy, cst3-related 29.0 SERPINA3 PSEN2 PSEN1 PRNP ITM2B GSN
7 amyloidosis 28.9 SERPINA3 PSEN1 PRNP ITM2B GSN FURIN
8 parkinson disease, late-onset 28.6 SERPINA3 PSEN2 PSEN1 PRNP FBXO7 APP
9 alzheimer disease 28.1 TUBB SERPINA3 PSEN2 PSEN1 PRNP ITM2B
10 amyotrophic lateral sclerosis 1 28.1 SERPINA3 PSEN1 PRNP CST3 APP ADAM10
11 encephalopathy, familial, with neuroserpin inclusion bodies 10.3 SERPINI1 SERPINA3 ITM2B
12 blepharochalasis 10.3 SERPINA3 GSN
13 clivus meningioma 10.3 PSEN2 APP
14 kohlschutter-tonz syndrome 10.3 SERPINI1 PSEN1 APP
15 communicating hydrocephalus 10.2 SERPINA3 PSEN1 APP
16 meningoencephalitis 10.2 SERPINA3 PSEN1 APP
17 normal pressure hydrocephalus 10.2 SERPINA3 PSEN1 APP
18 visual agnosia 10.1 PSEN2 PSEN1
19 visual epilepsy 10.1
20 ischemia 10.1
21 pustulosis of palm and sole 10.1
22 sleep disorder 10.1
23 psoriasis 10.1
24 encephalitis 10.1
25 brain injury 10.1
26 seizure disorder 10.1
27 ataxia and polyneuropathy, adult-onset 10.1
28 early-onset, autosomal dominant alzheimer disease 10.1 PSEN2 PSEN1 APP
29 alzheimer disease 18 10.1 APP ADAM10
30 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 10.1 PSEN2 PSEN1 APP
31 variola minor 10.1 KLHL2 ITM2B
32 fatal familial insomnia 10.0 SERPINA3 PRNP APP
33 alzheimer disease 3 10.0 PSEN2 PSEN1
34 alzheimer disease 2 10.0 SERPINA3 PSEN2 PSEN1 APP
35 amyloidosis, finnish type 10.0 SERPINA3 GSN FURIN CST3
36 spasticity 10.0
37 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 10.0 SERPINA3 PSEN2 PSEN1 APP
38 amyloidosis, hereditary, transthyretin-related 10.0 PRNP GSN APP
39 chromosomal disease 10.0 SERPINA3 PSEN2 PSEN1 APP
40 corneal disease 10.0 SERPINA3 GSN FBXO7
41 arteriolosclerosis 10.0 SERPINA3 APP
42 toxic encephalopathy 9.9 SERPINA3 PSEN1 PRNP APP
43 suprabulbar paresis, congenital 9.8
44 lateral sclerosis 9.8
45 spastic paraparesis 9.8
46 central nervous system disease 9.8 SERPINA3 PSEN1 PRNP APP
47 creutzfeldt-jakob disease 9.8 SERPINA3 PRNP CST3 APP
48 gerstmann-straussler disease 9.7 PSEN2 PSEN1 PRNP APP
49 aphasia 9.7 PSEN2 PSEN1 PRNP APP
50 scrapie 9.7 SERPINA3 PRNP APP ADAM10

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:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypertonia 31 HP:0001276
2 spasticity 31 HP:0001257
3 tremor 31 HP:0001337
4 rigidity 31 HP:0002063
5 dementia 31 HP:0000726
6 progressive neurologic deterioration 31 HP:0002344
7 cerebral amyloid angiopathy 31 HP:0011970

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy, Itm2b-Related, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 ADAM10 APP CST3 FBXO7 GSN IFITM5
2 hematopoietic system MP:0005397 10.1 ADAM10 APP CNMD FBXO7 FURIN GSN
3 homeostasis/metabolism MP:0005376 10.07 ADAM10 APP CNMD CST3 FBXO7 GSN
4 immune system MP:0005387 9.97 ADAM10 APP CNMD FBXO7 FURIN GSN
5 integument MP:0010771 9.56 ADAM10 APP FURIN GSN PRNP PSEN1
6 normal MP:0002873 9.23 ADAM10 APP CNMD FURIN ITM2C PRNP

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 Abri Amyloidosis 29 ITM2B

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

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

40
Brain, Bone

Publications for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

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

(show all 17)
# Title Authors PMID Year
1
A stop-codon mutation in the BRI gene associated with familial British dementia. 54 56 6
10391242 1999
2
Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease. 56
12388551 2002
3
Familial cerebral amyloid angiopathy with nonneuritic amyloid plaque formation. 56
2364266 1990
4
Congophilic angiopathy of the brain: a clinical and pathological report on two siblings. 56
7086452 1982
5
Familial Presenile Dementia with Spastic Paralysis. 6
21610757 1933
6
Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. 54
18282158 2008
7
Modeling familial British dementia in transgenic mice. 61
16612985 2006
8
Expression of BRI, the normal precursor of the amyloid protein of familial British dementia, in human brain. 54
14586629 2004
9
Familial British dementia: colocalization of furin and ABri amyloid. 54
12883829 2003
10
Expression of mBRI2 in mice. 54
12566161 2003
11
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy. 54
11914409 2002
12
Proteolytic processing of familial British dementia-associated BRI variants: evidence for enhanced intracellular accumulation of amyloidogenic peptides. 54
11709554 2002
13
Regional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementia. 54
11159188 2001
14
A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 54
10781099 2000
15
Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia. 54
10526337 1999
16
Cytoskeletal pathology in familial cerebral amyloid angiopathy (British type) with non-neuritic amyloid plaque formation. 54
9928828 1999
17
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. 54
8619814 1996

Variations for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITM2B NM_021999.5(ITM2B):c.799T>A (p.Ter267Arg)SNV Pathogenic 5979 rs104894417 13:48835358-48835358 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

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:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.4 SPPL2B SPPL2A PSEN2 PSEN1 PRNP KLHL2
2 plasma membrane GO:0005886 10.38 SPPL2B SPPL2A PSEN2 PSEN1 PRNP ITM2C
3 extracellular region GO:0005576 10.25 TUBB SERPINI1 SERPINA3 ITM2B GSN FURIN
4 perinuclear region of cytoplasm GO:0048471 10.01 PSEN2 PSEN1 ITM2C GSN CST3 APP
5 endosome GO:0005768 9.99 SPPL2B SPPL2A PSEN1 ITM2B FURIN APP
6 Golgi membrane GO:0000139 9.97 SPPL2B PSEN2 PSEN1 ITM2B FURIN ADAM10
7 neuronal cell body GO:0043025 9.96 SERPINI1 PSEN2 PSEN1 CST3 ADAM10
8 axon GO:0030424 9.95 PSEN2 PSEN1 CST3 APP ADAM10
9 cell surface GO:0009986 9.95 PSEN2 PSEN1 PRNP FURIN APP ADAM10
10 lysosomal membrane GO:0005765 9.83 SPPL2B SPPL2A PSEN2 PSEN1 ITM2C
11 secretory granule lumen GO:0034774 9.79 SERPINI1 SERPINA3 GSN
12 neuromuscular junction GO:0031594 9.76 PSEN2 PSEN1 APP
13 synaptic vesicle GO:0008021 9.76 PSEN2 PSEN1 APP ADAM10
14 Golgi apparatus GO:0005794 9.65 SPPL2B PSEN2 PSEN1 PRNP ITM2C ITM2B
15 membrane raft GO:0045121 9.63 TUBB PSEN2 PSEN1 PRNP FURIN APP
16 Golgi-associated vesicle GO:0005798 9.61 APP ADAM10
17 nuclear envelope lumen GO:0005641 9.58 TUBB APP
18 synaptic membrane GO:0097060 9.58 PSEN2 PSEN1 ADAM10
19 dendritic shaft GO:0043198 9.54 PSEN2 PSEN1 APP
20 integral component of cytoplasmic side of endoplasmic reticulum membrane GO:0071458 9.52 SPPL2B SPPL2A
21 Golgi-associated vesicle membrane GO:0030660 9.5 SPPL2B SPPL2A ITM2B
22 ciliary rootlet GO:0035253 9.43 PSEN2 PSEN1 APP
23 extracellular exosome GO:0070062 9.4 TUBB SPPL2A SERPINI1 SERPINA3 PRNP ITM2C

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.06 SPPL2B SPPL2A PSEN2 PSEN1 FURIN ADAM10
2 post-translational protein modification GO:0043687 9.97 KLHL2 FBXO7 CST3 APP ADAM10
3 neutrophil degranulation GO:0043312 9.97 TUBB SERPINA3 PSEN1 GSN CST3 ADAM10
4 response to oxidative stress GO:0006979 9.84 PSEN1 PRNP CST3 APP
5 negative regulation of peptidase activity GO:0010466 9.83 SERPINI1 SERPINA3 CST3 APP
6 Notch signaling pathway GO:0007219 9.81 PSEN2 PSEN1 APP ADAM10
7 learning or memory GO:0007611 9.79 PSEN1 PRNP APP
8 extracellular matrix disassembly GO:0022617 9.79 GSN FURIN ADAM10
9 cellular response to amyloid-beta GO:1904646 9.77 PSEN1 PRNP APP
10 protein processing GO:0016485 9.76 PSEN2 PSEN1 FURIN ADAM10
11 negative regulation of endopeptidase activity GO:0010951 9.73 SERPINI1 SERPINA3 PRNP FURIN CST3 APP
12 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.67 PSEN1 APP
13 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.66 PRNP APP
14 astrocyte activation GO:0048143 9.66 PSEN1 APP
15 amyloid-beta metabolic process GO:0050435 9.65 PSEN2 PSEN1
16 cellular process GO:0009987 9.65 TUBB APP
17 cellular copper ion homeostasis GO:0006878 9.65 PRNP APP
18 negative regulation of long-term synaptic potentiation GO:1900272 9.64 PRNP APP
19 amyloid fibril formation GO:1990000 9.64 GSN APP
20 membrane protein proteolysis GO:0033619 9.63 SPPL2B SPPL2A
21 negative regulation of amyloid precursor protein biosynthetic process GO:0042985 9.63 ITM2C ITM2B
22 Notch receptor processing GO:0007220 9.62 PSEN2 PSEN1
23 amyloid-beta formation GO:0034205 9.61 PSEN1 ADAM10
24 neuron projection maintenance GO:1990535 9.61 PSEN1 PRNP APP
25 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.6 PSEN1 APP
26 amyloid precursor protein catabolic process GO:0042987 9.58 PSEN2 PSEN1 ADAM10
27 positive regulation of amyloid fibril formation GO:1905908 9.57 PSEN1 APP
28 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.56 PSEN1 APP
29 astrocyte activation involved in immune response GO:0002265 9.55 PSEN1 APP
30 modulation of age-related behavioral decline GO:0090647 9.54 PSEN1 PRNP APP
31 Notch receptor processing, ligand-dependent GO:0035333 9.5 PSEN2 PSEN1 ADAM10
32 cellular protein metabolic process GO:0044267 9.5 PSEN1 ITM2B GSN FURIN CST3 APP
33 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.48 PSEN1 APP
34 membrane protein intracellular domain proteolysis GO:0031293 9.46 SPPL2B SPPL2A PSEN2 PSEN1
35 membrane protein ectodomain proteolysis GO:0006509 9.02 SPPL2B SPPL2A PSEN2 PSEN1 ADAM10

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 activity GO:0008233 9.88 SPPL2B SPPL2A PSEN2 PSEN1 FURIN ADAM10
2 peptidase inhibitor activity GO:0030414 9.67 SERPINI1 SERPINA3 CST3 APP
3 protease binding GO:0002020 9.63 PRNP FURIN CST3
4 serine-type endopeptidase inhibitor activity GO:0004867 9.62 SERPINI1 SERPINA3 FURIN APP
5 endopeptidase activity GO:0004175 9.56 PSEN2 PSEN1 FURIN ADAM10
6 amyloid-beta binding GO:0001540 9.46 PRNP ITM2C ITM2B CST3
7 growth factor receptor binding GO:0070851 9.43 PSEN1 APP
8 aspartic-type endopeptidase activity GO:0004190 9.26 SPPL2B SPPL2A PSEN2 PSEN1
9 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.92 SPPL2B SPPL2A PSEN2 PSEN1

Sources for Cerebral Amyloid Angiopathy, Itm2b-Related, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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