FDD
MCID: DMN004
MIFTS: 19

Dementia, Familial Danish (FDD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Mental diseases categories
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Summaries for Dementia, Familial Danish

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MalaCards based summary: Dementia, Familial Danish, also known as heredopathia ophthalmootoencephalica, is related to cerebritis and amyloidosis, and has symptoms including An important gene associated with Dementia, Familial Danish is ITM2B (integral membrane protein 2B). Affiliated tissues include brain.

Description from OMIM:46 117300

Aliases & Classifications for Dementia, Familial Danish

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Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Dementia, Familial Danish, Aliases & Descriptions:

Name: Dementia, Familial Danish 42 46 44 62
Heredopathia Ophthalmootoencephalica 42 62
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis 42
Familial Dementia, Danish Type 48
 
Familial Danish Dementia 42
Hooe 42
Fdd 42


Classifications:



External Ids:

OMIM46 117300
MESH via Orphanet35 C538209
ICD10 via Orphanet26 G31.0
UMLS via Orphanet63 C1861735

Related Diseases for Dementia, Familial Danish

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Diseases related to Dementia, Familial Danish via text searches within MalaCards or GeneCards/GeneDecks 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:

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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:

32
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1ITM2BITM2B, 10-BP DUP, NT795duplicationPathogenic

Expression for genes affiliated with Dementia, Familial Danish

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Expression patterns in normal tissues for genes affiliated with Dementia, Familial Danish

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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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Products for genes affiliated with Dementia, Familial Danish

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  • Antibodies
  • Proteins
  • Lysates

Sources for Dementia, Familial Danish

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet