MCID: DMN004
MIFTS: 22

Dementia, Familial Danish malady

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

Aliases & Classifications for Dementia, Familial Danish

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Aliases & Descriptions for Dementia, Familial Danish:

Name: Dementia, Familial Danish 49 11 45 47 65
Heredopathia Ophthalmootoencephalica 45 22 67
Familial Danish Dementia 45 22 67
Hooe 45 22 67
Fdd 45 22 67
 
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis 45 22
Cerebellar Ataxia Cataract Deafness and Dementia or Psychosis 67
Cerebral Amyloid Angiopathy, Itm2b-Related 2 67
Itm2b-Related Cerebral Amyloid Angiopathy 2 22
Caa-Itm2b2 67


Classifications:



External Ids:

OMIM49 117300
MedGen34 C1861735
MeSH36 D028243

Summaries for Dementia, Familial Danish

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UniProtKB/Swiss-Prot:67 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 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 spinal cord, retina and cerebellum.

Description from OMIM:49 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 10)
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 spasticity HP:0001257
8 intention tremor HP:0002080
9 neurofibrillary tangles HP:0002185
10 cerebral amyloid angiopathy HP:0011970

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 Itm2b-Related Cerebral Amyloid Angiopathy 222 ITM2B

Anatomical Context for Dementia, Familial Danish

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MalaCards organs/tissues related to Dementia, Familial Danish:

33
Spinal cord, Retina, Cerebellum

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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GO Terms for genes affiliated with Dementia, Familial Danish

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Sources for Dementia, Familial Danish

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet