MCID: DMN004
MIFTS: 19

Dementia, Familial Danish malady

Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Mental diseases categories

Aliases & Classifications for Dementia, Familial Danish

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Dementia, Familial Danish:

Name: Dementia, Familial Danish 46 9 42 44 61
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis 42
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 46
Heredopathia Ophthalmootoencephalica 42
 
Familial Dementia, Danish Type 48
Familial Danish Dementia 42
Hooe 42
Fdd 42


Classifications:



External Ids:

OMIM46 117300
Orphanet48 97346
MESH via Orphanet34 C538209
ICD10 via Orphanet26 G31.0
UMLS via Orphanet62 C1861735

Summaries for Dementia, Familial Danish

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MalaCards based summary: Dementia, Familial Danish, also known as cerebellar ataxia, cataract, deafness, and dementia or psychosis, is related to cerebritis and amyloidosis, and has symptoms including autosomal dominant inheritance, hearing impairment and psychosis. An important gene associated with Dementia, Familial Danish is ITM2B (integral membrane protein 2B). Affiliated tissues include brain.

Description from OMIM:46 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
1cerebritis10.2
2amyloidosis10.2
3dementia10.2

Symptoms for Dementia, Familial Danish

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Symptoms by clinical synopsis from OMIM:

117300

Clinical features from OMIM:

117300

HPO human phenotypes related to Dementia, Familial Danish:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hearing impairment HP:0000365
3 psychosis HP:0000709
4 dementia HP:0000726
5 posterior polar cataract HP:0001115
6 ataxia HP:0001251
7 abnormality of metabolism/homeostasis HP:0001939
8 intention tremor HP:0002080

Drugs & Therapeutics for Dementia, Familial Danish

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Drug clinical trials:

Search ClinicalTrials for Dementia, Familial Danish

Search NIH Clinical Center for Dementia, Familial Danish

Genetic Tests for Dementia, Familial Danish

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Anatomical Context for Dementia, Familial Danish

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MalaCards organs/tissues related to Dementia, Familial Danish:

31
Brain

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
1ITM2BITM2B, 10-BP DUP, NT795duplicationPathogenic

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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Compounds for genes affiliated with Dementia, Familial Danish

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GO Terms for genes affiliated with Dementia, Familial Danish

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Sources for Dementia, Familial Danish

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet