Familial dementia, Danish type

General Information (adopted from Orphanet):

Synonyms, Signs: DEMENTIA, FAMILIAL DANISH
FAMILIAL DANISH DEMENTIA
HEREDOPATHIA OPHTHALMOOTOENCEPHALICA
CEREBELLAR ATAXIA, CATARACT, DEAFNESS, AND DEMENTIA OR PSYCHOSIS
FDD
HOOE
Number of Symptoms 11
OrphanetNr: 97346
OMIM Id: 117300
ICD-10: G31.0
UMLs: C1861735
MeSH: C538209
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic neurodegenerative disease with dementia
 -Rare genetic disease
Neurodegenerative disease with dementia
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001115) Posterior polar cataract 8 / 7739
2
 (HPO:0000365) Hearing impairment 539 / 7739
3
 (HPO:0000726) Dementia 131 / 7739
4
 (HPO:0002080) Intention tremor 44 / 7739
5
 (HPO:0000709) Psychosis 61 / 7739
6
 (HPO:0001257) Spasticity 251 / 7739
7
 (HPO:0001251) Ataxia 20385796 IBIS 413 / 7739
8
 (HPO:0011970) Cerebral amyloid angiopathy 9 / 7739
9
 (HPO:0002185) Neurofibrillary tangles 14 / 7739
10
 (OMIM) Large quantities of cholesterol and cholesterol compounds in tissue and in glial cells, walls and lumina of vessels 1 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Stromgrem et al. (1970) described this syndrome in 9 persons in 5 generations of a Danish family. Intention tremor was present. Paranoid psychosis or increasing dementia occurred in late life. Posterior polar cataracts appeared between ages 20 and ...
Molecular genetics OMIM Vidal et al. (2000) reported the isolation and biochemical characterization of a de novo-created amyloid protein and the identification of the genetic defect in the ITM2B gene (603904.0002) that results in dementia in the Danish kindred originally reported ...