MCID: DMN004
MIFTS: 23

Dementia, Familial Danish malady

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

Aliases & Classifications for Dementia, Familial Danish

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Aliases & Descriptions for Dementia, Familial Danish:

Name: Dementia, Familial Danish 49 11 45 22 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
Familial Dementia, Danish Type 24
Caa-Itm2b2 67

Characteristics:

HPO:

61
dementia, familial danish:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 117300
MedGen34 C1861735
MeSH36 D028243
UMLS65 C1861735

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 adan amyloidosis and melanoma, and has symptoms including cerebral amyloid angiopathy, neurofibrillary tangles and intention tremor. An important gene associated with Dementia, Familial Danish is ITM2B (Integral Membrane Protein 2B). Affiliated tissues include cerebellum, retina and spinal cord.

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
1adan amyloidosis11.6
2melanoma10.1

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 9)
id Description Frequency HPO Source Accession
1 cerebral amyloid angiopathy HP:0011970
2 neurofibrillary tangles HP:0002185
3 intention tremor HP:0002080
4 spasticity HP:0001257
5 ataxia HP:0001251
6 posterior polar cataract HP:0001115
7 dementia HP:0000726
8 psychosis HP:0000709
9 hearing impairment HP:0000365

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
Cerebellum, Retina, Spinal cord

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