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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Dementia, Familial Danish:

Name: Dementia, Familial Danish 51 47 24 12 49 67
Heredopathia Ophthalmootoencephalica 47 24 69
Familial Danish Dementia 47 24 69
Hooe 47 24 69
Fdd 47 24 69
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis 47 24
Familial Cerebral Amyloid Angiopathy 53 67
Familial Dementia, Danish Type 53 26
Itm2b Amyloidosis 47 53
 
Cerebellar Ataxia Cataract Deafness and Dementia or Psychosis 69
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 51
Cerebral Amyloid Angiopathy, Itm2b-Related 2 69
Itm2b-Related Cerebral Amyloid Angiopathy 2 24
Itm2b-Related Cerebral Amyloid Angiopathy 53
Cerebral Amyloid Angiopathy Familial 49
Itm2b-Related Amyloidosis 53
Adan Amyloidosis 53
Caa-Itm2b2 69

Characteristics:

Orphanet epidemiological data:

53
familial cerebral amyloid angiopathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult
familial dementia, danish type:
Inheritance: Autosomal dominant

HPO:

63
dementia, familial danish:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 117300
ICD10 via Orphanet30 E85.4+, I68.0*
MESH via Orphanet39 C538209
UMLS via Orphanet68 C1861735
MedGen36 C1861735
MeSH38 D028243

Summaries for Dementia, Familial Danish

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UniProtKB/Swiss-Prot:69 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.

Description from OMIM:51 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 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:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 hearing impairment63 HP:0000365
2 psychosis63 HP:0000709
3 dementia63 HP:0000726
4 posterior polar cataract63 HP:0001115
5 ataxia63 HP:0001251
6 spasticity63 HP:0001257
7 intention tremor63 HP:0002080
8 neurofibrillary tangles63 HP:0002185
9 cerebral amyloid angiopathy63 HP:0011970

UMLS symptoms related to Dementia, Familial Danish:


cerebellar ataxia

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 Danish26
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:

35
Spinal cord, Retina, Cerebellum, Bone

Animal Models for Dementia, Familial Danish or affiliated genes

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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:00310129.4CST3, TUBB
2extracellular regionGO:00055768.6CST3, ITM2B, TUBB
3extracellular exosomeGO:00700628.5CST3, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet