MCID: DMN004
MIFTS: 32

Dementia, Familial Danish malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Ear diseases, Mental diseases

Aliases & Classifications for Dementia, Familial Danish

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Dementia, Familial Danish:

Name: Dementia, Familial Danish 52 48 24 12 50 68
Heredopathia Ophthalmootoencephalica 48 24 70
Familial Danish Dementia 48 24 70
Hooe 48 24 70
Fdd 48 24 70
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis 48 24
Familial Cerebral Amyloid Angiopathy 54 68
Familial Dementia, Danish Type 54 27
Itm2b Amyloidosis 48 54
 
Cerebellar Ataxia Cataract Deafness and Dementia or Psychosis 70
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 52
Cerebral Amyloid Angiopathy, Itm2b-Related 2 70
Itm2b-Related Cerebral Amyloid Angiopathy 2 24
Itm2b-Related Cerebral Amyloid Angiopathy 54
Cerebral Amyloid Angiopathy Familial 50
Itm2b-Related Amyloidosis 54
Adan Amyloidosis 54
Caa-Itm2b2 70

Characteristics:

Orphanet epidemiological data:

54
familial cerebral amyloid angiopathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult
familial dementia, danish type:
Inheritance: Autosomal dominant

HPO:

64
dementia, familial danish:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 117300
ICD10 via Orphanet31 E85.4+, I68.0*
MESH via Orphanet40 C538209
UMLS via Orphanet69 C1861735
MedGen37 C1861735
MeSH39 D028243

Summaries for Dementia, Familial Danish

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UniProtKB/Swiss-Prot:70 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: Dementia, Familial Danish, also known as heredopathia ophthalmootoencephalica, is related to cerebral amyloid angiopathy and hereditary cerebral amyloid angiopathy, and has symptoms including hearing impairment, psychosis and dementia. An important gene associated with Dementia, Familial Danish is ITM2B (Integral Membrane Protein 2B), and among its related pathways is Neuroscience. Affiliated tissues include spinal cord, retina and cerebellum, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

Description from OMIM:52 117300

Related Diseases for Dementia, Familial Danish

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Diseases related to Dementia, Familial Danish via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cerebral amyloid angiopathy11.8
2hereditary cerebral amyloid angiopathy11.3
3dementia, familial british11.3
4cerebritis10.3
5polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract9.7CST3, ITM2B
6dementia9.7
7rieger syndrome, type 29.2ITM2B, TUBB

Graphical network of diseases related to Dementia, Familial Danish:



Diseases related to dementia, familial danish

Symptoms & Phenotypes for Dementia, Familial Danish

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Symptoms by clinical synopsis from OMIM:

117300

Clinical features from OMIM:

117300

Human phenotypes related to Dementia, Familial Danish:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 hearing impairment64 HP:0000365
2 psychosis64 HP:0000709
3 dementia64 HP:0000726
4 posterior polar cataract64 HP:0001115
5 ataxia64 HP:0001251
6 spasticity64 HP:0001257
7 intention tremor64 HP:0002080
8 neurofibrillary tangles64 HP:0002185
9 cerebral amyloid angiopathy64 HP:0011970

UMLS symptoms related to Dementia, Familial Danish:


cerebellar ataxia

GenomeRNAi Phenotypes related to Dementia, Familial Danish according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-587.8CST3, TUBB, CST3, TUBB

Drugs & Therapeutics for Dementia, Familial Danish

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dementia, Familial Danish

Genetic Tests for Dementia, Familial Danish

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Genetic tests related to Dementia, Familial Danish:

id Genetic test Affiliating Genes
1 Dementia, Familial Danish27
2 Itm2b-Related Cerebral Amyloid Angiopathy 224 ITM2B

Anatomical Context for Dementia, Familial Danish

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MalaCards organs/tissues related to Dementia, Familial Danish:

36
Spinal cord, Retina, Cerebellum, Bone

Publications for Dementia, Familial Danish

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Variations for Dementia, Familial Danish

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Clinvar genetic disease variations for Dementia, Familial Danish:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ITM2BNM_021999.4(ITM2B): c.786_795dupTTTAATTTGT (p.Ser266Phefs)duplicationPathogenicrs606231166GRCh38Chr 13, 48261209: 48261218

Expression for genes affiliated with Dementia, Familial Danish

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Search GEO for disease gene expression data for Dementia, Familial Danish.

Pathways for genes affiliated with Dementia, Familial Danish

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Pathways related to Dementia, Familial Danish according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.1CST3, TUBB

GO Terms for genes affiliated with Dementia, Familial Danish

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Cellular components related to Dementia, Familial Danish according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.9CST3, TUBB
2extracellular exosomeGO:00700629.3CST3, ITM2B, TUBB
3extracellular regionGO:00055768.5CST3, ITM2B, TUBB

Biological processes related to Dementia, Familial Danish according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular protein metabolic processGO:00442679.3CST3, ITM2B

Molecular functions related to Dementia, Familial Danish according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1beta-amyloid bindingGO:00015409.3CST3, ITM2B

Sources for Dementia, Familial Danish

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet