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 57
Dementia, Familial Danish 57 53 29 13 55 6 73
Heredopathia Ophthalmootoencephalica 57 12 53 75
Familial Danish Dementia 57 12 53 75
Hooe 57 12 53 75
Fdd 57 12 53 75
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis 57 12 53
Itm2b-Related Cerebral Amyloid Angiopathy 2 12 15
Familial Cerebral Amyloid Angiopathy 59 73
Itm2b Amyloidosis 53 59
Cerebellar Ataxia Cataract Deafness and Dementia or Psychosis 75
Cerebral Amyloid Angiopathy, Itm2b-Related 2 75
Heredopathia Ophthalmootoencephalica; Hooe 57
Itm2b-Related Cerebral Amyloid Angiopathy 59
Cerebral Amyloid Angiopathy Familial 55
Dementia, Familial Danish; Fdd 57
Familial Dementia, Danish Type 59
Dementia, Familial, Danish 40
Itm2b-Related Amyloidosis 59
Adan Amyloidosis 59
Caa-Itm2b2 75

Characteristics:

Orphanet epidemiological data:

59
itm2b amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;
adan amyloidosis
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cerebral amyloid angiopathy, itm2b-related, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 117300
Disease Ontology 12 DOID:0070030
ICD10 via Orphanet 34 E85.4+ I68.0*
MESH via Orphanet 45 C538209
UMLS via Orphanet 74 C1861735
MedGen 42 C1861735
MeSH 44 D028243

Summaries for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

UniProtKB/Swiss-Prot : 75 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 Neuroscience 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:

# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, cst3-related 32.8 PRNP ITM2B CST3
2 cerebral amyloid angiopathy, itm2b-related, 1 31.1 TUBB ITM2B FURIN APH1B
3 hereditary cerebral amyloid angiopathy 11.6
4 gestational diabetes 10.1
5 brachydactyly, type a2 9.9 ITM2B FURIN
6 amyloidosis 9.8
7 dementia 9.8
8 creutzfeldt-jakob disease 9.8 PRNP CST3
9 alzheimer disease 9.5 PRNP ITM2B CST3 APH1B

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 spasticity 32 HP:0001257
3 hearing impairment 32 HP:0000365
4 intention tremor 32 HP:0002080
5 psychosis 32 HP:0000709
6 dementia 32 HP:0000726
7 neurofibrillary tangles 32 HP:0002185
8 cerebral amyloid angiopathy 32 HP:0011970
9 posterior polar cataract 32 HP:0001115

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 29 ITM2B

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

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

41
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
Oxidative stress and mitochondria-mediated cell death mechanisms triggered by the familial Danish dementia ADan amyloid. ( 26459115 )
2016
2
Increased AI^PP processing in familial Danish dementia patients. ( 21841249 )
2011
3
Familial Danish dementia: co-existence of Danish and Alzheimer amyloid subunits (ADan AND A{beta}) in the absence of compact plaques. ( 16091362 )
2005
4
Oligomerization and neurotoxicity of the amyloid ADan peptide implicated in familial Danish dementia. ( 14690516 )
2004
5
Familial Danish dementia: a novel form of cerebral amyloidosis associated with deposition of both amyloid-Dan and amyloid-beta. ( 11895040 )
2002

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_021999.4(ITM2B): c.786_795dupTTTAATTTGT (p.Ser266Phefs) duplication Pathogenic rs606231166 GRCh38 Chromosome 13, 48261209: 48261218
2 ITM2B NM_021999.4(ITM2B): c.786_795dupTTTAATTTGT (p.Ser266Phefs) duplication Pathogenic rs606231166 GRCh37 Chromosome 13, 48835345: 48835354

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 11.33 CST3 PRNP TUBB
2
Show member pathways
10.78 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 exosome GO:0070062 9.35 CST3 FURIN ITM2B PRNP TUBB
2 membrane raft GO:0045121 8.8 FURIN PRNP 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 protein processing GO:0016485 8.96 APH1B FURIN
2 cellular protein metabolic process GO:0044267 8.8 CST3 FURIN ITM2B

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 9.16 APH1B FURIN
2 protease binding GO:0002020 9.13 CST3 FURIN PRNP
3 amyloid-beta binding GO:0001540 8.8 CST3 ITM2B PRNP

Sources for Cerebral Amyloid Angiopathy, Itm2b-Related, 2

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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