ALZHEIMER DISEASE 4

General Information (adopted from Orphanet):

Synonyms, Signs: ALZHEIMER DISEASE, FAMILIAL, 4
AD4
Number of Symptoms 9
OrphanetNr:
OMIM Id: 606889
ICD-10:
UMLs:
MeSH:
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000726) Dementia 131 / 7739
2
(HPO:0002511) Alzheimer disease 10 / 7739
3
(HPO:0006979) Sleep-wake cycle disturbance 5 / 7739
4
(HPO:0011970) Cerebral amyloid angiopathy 9 / 7739
5
(HPO:0003596) Middle age onset 5 / 7739
6
(OMIM) Severe amyloid angiopathy 1 / 7739
7
(OMIM) Neurofibrillary tangles and neuritic senile plaques rare 1 / 7739
8
(MedDRA:10036631) Presenile dementia 2 / 7739
9
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bird et al. (1988) described 5 German kindreds with an autosomal dominant early-onset form of Alzheimer disease. All families were descendants of a group of immigrants, known as the Volga Germans, who came to the United States between ...
Molecular genetics OMIM In affected members of 7 families of the Volga German group with Alzheimer disease, Levy-Lahad et al. (1995) identified heterozygosity for a mutation in the PSEN2 gene (N141I; 600759.0001). Two affected patients from the families with AD lacked ...