CAA-ITM2B2
MCID: CRB174
MIFTS: 39

Cerebral Amyloid Angiopathy, Itm2b-Related, 2 (CAA-ITM2B2)

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, 2

MalaCards integrated aliases for Cerebral Amyloid Angiopathy, Itm2b-Related, 2:

Name: Cerebral Amyloid Angiopathy, Itm2b-Related, 2 56
Dementia, Familial Danish 56 52 13 54 71
Heredopathia Ophthalmootoencephalica 56 12 52 73
Familial Danish Dementia 56 12 52 73
Hooe 56 12 52 73
Fdd 56 12 52 73
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis 56 12 52
Adan Amyloidosis 58 29 6
Itm2b-Related Cerebral Amyloid Angiopathy 2 12 15
Familial Cerebral Amyloid Angiopathy 58 71
Itm2b Amyloidosis 52 58
Cerebellar Ataxia Cataract Deafness and Dementia or Psychosis 73
Cerebral Amyloid Angiopathy, Itm2b-Related 2 73
Heredopathia Ophthalmootoencephalica; Hooe 56
Itm2b-Related Cerebral Amyloid Angiopathy 58
Dementia, Familial Danish; Fdd 56
Familial Dementia, Danish Type 58
Dementia, Familial, Danish 39
Itm2b-Related Amyloidosis 58
Caa-Itm2b2 73

Characteristics:

Orphanet epidemiological data:

58
itm2b amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;
adan amyloidosis
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cerebral amyloid angiopathy, itm2b-related, 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0070030
OMIM 56 117300
MeSH 43 D028243
MESH via Orphanet 44 C538209
ICD10 via Orphanet 33 E85.4+ I68.0*
UMLS via Orphanet 72 C1861735
MedGen 41 C1861735
UMLS 71 C0268393 C1861735

Summaries for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

UniProtKB/Swiss-Prot : 73 Cerebral amyloid angiopathy, ITM2B-related 2: A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness.

MalaCards based summary : Cerebral Amyloid Angiopathy, Itm2b-Related, 2, also known as dementia, familial danish, is related to cerebral amyloid angiopathy, itm2b-related, 1 and cerebral amyloid angiopathy, app-related, and has symptoms including cerebellar ataxia An important gene associated with Cerebral Amyloid Angiopathy, Itm2b-Related, 2 is ITM2B (Integral Membrane Protein 2B), and among its related pathways/superpathways are Signaling by Rho GTPases and Mitotic Prometaphase. Affiliated tissues include cerebellum, retina and spinal cord, and related phenotypes are hearing impairment and spasticity

Disease Ontology : 12 A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.

More information from OMIM: 117300

Related Diseases for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

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, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, itm2b-related, 1 29.8 SPPL2B SERPINA3 ITM2C ITM2B FURIN APP
2 cerebral amyloid angiopathy, app-related 29.6 SERPINA3 ITM2B APP
3 cerebral amyloid angiopathy, cst3-related 29.1 SERPINA3 ITM2B FURIN APP
4 amyloidosis 28.9 SERPINA3 ITM2B FURIN APP
5 hereditary cerebral amyloid angiopathy 11.4
6 gastric adenocarcinoma 10.3
7 48,xyyy 10.3
8 dementia 10.2
9 osteomyelitis 10.2
10 gestational diabetes 10.2
11 adenocarcinoma 10.2
12 encephalopathy, familial, with neuroserpin inclusion bodies 10.2 SERPINA3 ITM2B
13 alzheimer disease 10.1
14 stroke, ischemic 10.0
15 prion disease 10.0
16 hereditary amyloidosis 10.0
17 cryptophthalmos, unilateral or bilateral, isolated 9.9 FMN2 DIAPH2 DAAM1
18 triiodothyronine receptor auxiliary protein 9.8
19 down syndrome 9.8
20 ataxia and polyneuropathy, adult-onset 9.8
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
22 cataract 9.8
23 47,xyy 9.8
24 early-onset, autosomal dominant alzheimer disease 9.8
25 alzheimer disease 2 9.8 SERPINA3 APP
26 arteriolosclerosis 9.8 SERPINA3 APP
27 malignant breast melanoma 9.7 FMNL3 FMNL2 FMNL1 FHOD1 DAAM2
28 amyloidosis, finnish type 9.7 SERPINA3 FURIN
29 communicating hydrocephalus 9.6 SERPINA3 APP

Graphical network of the top 20 diseases related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2:



Diseases related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Symptoms & Phenotypes for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Human phenotypes related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 spasticity 31 HP:0001257
3 ataxia 31 HP:0001251
4 psychosis 31 HP:0000709
5 dementia 31 HP:0000726
6 intention tremor 31 HP:0002080
7 cerebral amyloid angiopathy 31 HP:0011970
8 neurofibrillary tangles 31 HP:0002185
9 posterior polar cataract 31 HP:0001115

Symptoms via clinical synopsis from OMIM:

56
Neuro:
ataxia
psychosis
dementia
intention tremor

Eyes:
posterior polar cataracts

Ears:
hearing loss

Lab:
large quantities of cholesterol and cholesterol compounds in tissue and in glial cells, walls and lumina of vessels

Clinical features from OMIM:

117300

UMLS symptoms related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2:


cerebellar ataxia

Drugs & Therapeutics for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Search Clinical Trials , NIH Clinical Center for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Genetic Tests for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Genetic tests related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2:

# Genetic test Affiliating Genes
1 Adan Amyloidosis 29 ITM2B

Anatomical Context for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

MalaCards organs/tissues related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2:

40
Cerebellum, Retina, Spinal Cord, Bone, Brain

Publications for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Articles related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2:

(show all 14)
# Title Authors PMID Year
1
A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. 6 56
10781099 2000
2
Modeling familial Danish dementia in mice supports the concept of the amyloid hypothesis of Alzheimer's disease. 56
20385796 2010
3
Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease. 56
12388551 2002
4
A stop-codon mutation in the BRI gene associated with familial British dementia. 6
10391242 1999
5
Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome. 6
5457846 1970
6
Familial Presenile Dementia with Spastic Paralysis. 6
21610757 1933
7
Benzothiazole aniline tetra(ethylene glycol) and 3-amino-1,2,4-triazole inhibit neuroprotection against amyloid peptides by catalase overexpression in vitro. 61
23968537 2013
8
Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. 54
18282158 2008
9
Form and dimensions of aggregates dictate cytotoxicities of Danish dementia peptides. 54
18477478 2008
10
Hierarchy and the mechanism of fibril formation in ADan peptides. 54
17029605 2006
11
Familial Danish dementia: co-existence of Danish and Alzheimer amyloid subunits (ADan AND A{beta}) in the absence of compact plaques. 54
16091362 2005
12
Properties of neurotoxic peptides related to the Bri gene. 54
15182222 2004
13
Expression of mBRI2 in mice. 54
12566161 2003
14
Proteolytic processing of familial British dementia-associated BRI variants: evidence for enhanced intracellular accumulation of amyloidogenic peptides. 54
11709554 2002

Variations for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

ClinVar genetic disease variations for Cerebral Amyloid Angiopathy, Itm2b-Related, 2:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITM2B NM_021999.5(ITM2B):c.787_796dup (p.Ser266fs)duplication Pathogenic 5980 rs606231166 13:48835344-48835345 13:48261208-48261209

Expression for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Search GEO for disease gene expression data for Cerebral Amyloid Angiopathy, Itm2b-Related, 2.

Pathways for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Pathways related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 FMNL3 FMNL2 FMNL1 DIAPH2 DIAPH1 DAAM1
2
Show member pathways
11.63 FMNL3 FMNL2 FMNL1 DIAPH2 DIAPH1 DAAM1

GO Terms for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

Cellular components related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.73 FMNL1 FHOD1 FHDC1 DIAPH1 DAAM1 APP
2 endosome GO:0005768 9.72 SPPL2B ITM2B FURIN DIAPH2 APP
3 Golgi apparatus GO:0005794 9.5 SPPL2B ITM2C ITM2B FURIN FMNL3 FHDC1
4 Golgi-associated vesicle membrane GO:0030660 9.16 SPPL2B ITM2B
5 bleb GO:0032059 8.62 FMNL1 FHOD1

Biological processes related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton organization GO:0007010 9.62 FMNL3 FMNL2 FMNL1 DIAPH1
2 negative regulation of endopeptidase activity GO:0010951 9.61 SERPINA3 FURIN APP
3 regulation of cell shape GO:0008360 9.56 FMNL3 FMNL2 FMNL1 DIAPH1
4 actin cytoskeleton organization GO:0030036 9.5 FMNL3 FMNL2 FMNL1 DIAPH2 DIAPH1 DAAM2
5 cortical actin cytoskeleton organization GO:0030866 9.46 FMNL3 FMNL2 FMNL1 FHOD1
6 cellular process GO:0009987 9.4 FMNL1 APP
7 negative regulation of amyloid precursor protein biosynthetic process GO:0042985 9.37 ITM2C ITM2B
8 cellular component organization GO:0016043 9.17 FMNL3 FMNL2 FMNL1 DIAPH2 DIAPH1 DAAM2

Molecular functions related to Cerebral Amyloid Angiopathy, Itm2b-Related, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.65 FMNL3 FMNL2 FMNL1 FMN2 FHOD1 FHDC1
2 serine-type endopeptidase inhibitor activity GO:0004867 9.5 SERPINA3 FURIN APP
3 actin filament binding GO:0051015 9.46 FMNL3 FMNL2 FMNL1 FHOD1
4 GTPase activating protein binding GO:0032794 9.26 FMNL3 FMNL1
5 Rho GTPase binding GO:0017048 9.17 FMNL3 FMNL2 FMNL1 DIAPH2 DIAPH1 DAAM2

Sources for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

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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