CAA-ITM2B2
MCID: CRB174
MIFTS: 38

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 58
Dementia, Familial Danish 58 54 30 13 56 6 74
Heredopathia Ophthalmootoencephalica 58 12 54 76
Familial Danish Dementia 58 12 54 76
Hooe 58 12 54 76
Fdd 58 12 54 76
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis 58 12 54
Itm2b-Related Cerebral Amyloid Angiopathy 2 12 15
Familial Cerebral Amyloid Angiopathy 60 74
Itm2b Amyloidosis 54 60
Cerebellar Ataxia Cataract Deafness and Dementia or Psychosis 76
Cerebral Amyloid Angiopathy, Itm2b-Related 2 76
Heredopathia Ophthalmootoencephalica; Hooe 58
Itm2b-Related Cerebral Amyloid Angiopathy 60
Cerebral Amyloid Angiopathy Familial 56
Dementia, Familial Danish; Fdd 58
Familial Dementia, Danish Type 60
Dementia, Familial, Danish 41
Itm2b-Related Amyloidosis 60
Adan Amyloidosis 60
Caa-Itm2b2 76

Characteristics:

Orphanet epidemiological data:

60
itm2b amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;
adan amyloidosis
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cerebral amyloid angiopathy, itm2b-related, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070030
OMIM 58 117300
MeSH 45 D028243
MESH via Orphanet 46 C538209
ICD10 via Orphanet 35 E85.4+ I68.0*
UMLS via Orphanet 75 C1861735
MedGen 43 C1861735

Summaries for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

UniProtKB/Swiss-Prot : 76 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, cst3-related and cerebral amyloid angiopathy, itm2b-related, 1, 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 Development NOTCH1-mediated pathway for NF-KB activity modulation and p75(NTR)-mediated signaling. Affiliated tissues include spinal cord, cerebellum and retina, and related phenotypes are ataxia 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.

Description 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 12)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, cst3-related 32.6 CST3 ITM2B SERPINA3
2 cerebral amyloid angiopathy, itm2b-related, 1 30.7 APH1B FURIN ITM2B TUBB
3 creutzfeldt-jakob disease 29.6 CST3 SERPINA3
4 hereditary cerebral amyloid angiopathy 11.6
5 adenocarcinoma 10.3
6 gastric adenocarcinoma 10.3
7 dementia 10.2
8 gestational diabetes 10.1
9 amyloidosis 9.8
10 vascular dementia 9.8 CST3 SERPINA3
11 brachydactyly, type a2 9.7 FURIN ITM2B
12 alzheimer disease 9.3 APH1B CST3 ITM2B SERPINA3

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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ataxia 33 HP:0001251
2 spasticity 33 HP:0001257
3 hearing impairment 33 HP:0000365
4 intention tremor 33 HP:0002080
5 psychosis 33 HP:0000709
6 dementia 33 HP:0000726
7 neurofibrillary tangles 33 HP:0002185
8 posterior polar cataract 33 HP:0001115
9 cerebral amyloid angiopathy 33 HP:0011970

Symptoms via clinical synopsis from OMIM:

58
Neuro:
ataxia
intention tremor
psychosis
dementia

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 Dementia, Familial Danish 30 ITM2B

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

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

42
Spinal Cord, Cerebellum, Retina, Bone

Publications for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

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

# Title Authors Year
1
Clinical presentation of rapidly progressive familial Danish dementia. ( 30843473 )
2018
2
Oxidative stress and mitochondria-mediated cell death mechanisms triggered by the familial Danish dementia ADan amyloid. ( 26459115 )
2016
3
Increased AβPP processing in familial Danish dementia patients. ( 21841249 )
2011
4
Familial Danish dementia: co-existence of Danish and Alzheimer amyloid subunits (ADan AND A{beta}) in the absence of compact plaques. ( 16091362 )
2005
5
Oligomerization and neurotoxicity of the amyloid ADan peptide implicated in familial Danish dementia. ( 14690516 )
2004
6
Familial Danish dementia: a novel form of cerebral amyloidosis associated with deposition of both amyloid-Dan and amyloid-beta. ( 11895040 )
2002
7
A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred. ( 10781099 )
2000
8
Cataract, deafness, cerebellar ataxia, psychosis and dementia--a new syndrome. ( 5457846 )
1970

Variations for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ITM2B NM_021999.5(ITM2B): c.786_795dup (p.Ser266Phefs) duplication Pathogenic rs606231166 GRCh37 Chromosome 13, 48835345: 48835354
2 ITM2B NM_021999.5(ITM2B): c.786_795dup (p.Ser266Phefs) duplication Pathogenic rs606231166 GRCh38 Chromosome 13, 48261209: 48261218

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
11.19 APH1B FURIN
2
Show member pathways
10.44 APH1B FURIN

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 extracellular space GO:0005615 9.56 CST3 FURIN ITM2B SERPINA3
2 extracellular region GO:0005576 9.35 CST3 FURIN ITM2B SERPINA3 TUBB
3 azurophil granule lumen GO:0035578 9.16 SERPINA3 TUBB
4 extracellular exosome GO:0070062 9.02 CST3 FURIN ITM2B SERPINA3 TUBB

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.43 CST3 SERPINA3 TUBB
2 negative regulation of peptidase activity GO:0010466 9.32 CST3 SERPINA3
3 protein processing GO:0016485 9.16 APH1B FURIN
4 cellular protein metabolic process GO:0044267 9.13 CST3 FURIN ITM2B
5 negative regulation of endopeptidase activity GO:0010951 8.8 CST3 FURIN SERPINA3

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

# Name GO ID Score Top Affiliating Genes
1 peptidase inhibitor activity GO:0030414 9.32 CST3 SERPINA3
2 protease binding GO:0002020 9.26 CST3 FURIN
3 serine-type endopeptidase inhibitor activity GO:0004867 9.16 FURIN SERPINA3
4 endopeptidase activity GO:0004175 8.96 APH1B FURIN
5 amyloid-beta binding GO:0001540 8.62 CST3 ITM2B

Sources for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

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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