MCID: DMN004
MIFTS: 27

Dementia, Familial Danish malady

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

Aliases & Classifications for Dementia, Familial Danish

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Dementia, Familial Danish:

Name: Dementia, Familial Danish 50 46 23 12 48 66
Heredopathia Ophthalmootoencephalica 46 23 68
Familial Danish Dementia 46 23 68
Hooe 46 23 68
Fdd 46 23 68
Cerebellar Ataxia, Cataract, Deafness, and Dementia or Psychosis 46 23
Familial Dementia, Danish Type 52 25
Itm2b Amyloidosis 46 52
 
Cerebellar Ataxia Cataract Deafness and Dementia or Psychosis 68
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 50
Cerebral Amyloid Angiopathy, Itm2b-Related 2 68
Itm2b-Related Cerebral Amyloid Angiopathy 2 23
Itm2b-Related Cerebral Amyloid Angiopathy 52
Itm2b-Related Amyloidosis 52
Adan Amyloidosis 52
Caa-Itm2b2 68

Characteristics:

Orphanet epidemiological data:

52
itm2b amyloidosis:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult
familial dementia, danish type:
Inheritance: Autosomal dominant

HPO:

62
dementia, familial danish:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 117300
ICD10 via Orphanet29 E85.4+, I68.0*
MESH via Orphanet38 C538209
UMLS via Orphanet67 C1861735
MedGen35 C1861735
MeSH37 D028243

Summaries for Dementia, Familial Danish

About this section
UniProtKB/Swiss-Prot:68 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 dementia, familial british and dementia, and has symptoms including cerebellar ataxia, cerebellar ataxia and hearing impairment. 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:50 117300

Related Diseases for Dementia, Familial Danish

About this section

Diseases related to Dementia, Familial Danish via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dementia, familial british11.4
2dementia9.8

Symptoms for Dementia, Familial Danish

About this section

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

UMLS symptoms related to Dementia, Familial Danish:


cerebellar ataxia

Drugs & Therapeutics for Dementia, Familial Danish

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Dementia, Familial Danish

Genetic Tests for Dementia, Familial Danish

About this section

Genetic tests related to Dementia, Familial Danish:

id Genetic test Affiliating Genes
1 Dementia, Familial Danish25
2 Itm2b-Related Cerebral Amyloid Angiopathy 223 ITM2B

Anatomical Context for Dementia, Familial Danish

About this section

MalaCards organs/tissues related to Dementia, Familial Danish:

34
Spinal cord, Retina, Cerebellum, Bone

Animal Models for Dementia, Familial Danish or affiliated genes

About this section

Publications for Dementia, Familial Danish

About this section

Variations for Dementia, Familial Danish

About this section

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

About this section
Search GEO for disease gene expression data for Dementia, Familial Danish.

Pathways for genes affiliated with Dementia, Familial Danish

About this section

GO Terms for genes affiliated with Dementia, Familial Danish

About this section

Sources for Dementia, Familial Danish

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet