ALZHEIMER DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs: ALZHEIMER DISEASE, PROTECTION AGAINST, INCLUDED
PRESENILE AND SENILE DEMENTIA ALZHEIMER DISEASE, FAMILIAL, 1, INCLUDED
ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY, INCLUDED
AD1, INCLUDED
AD
Number of Symptoms 4
OrphanetNr:
OMIM Id: 104300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001300) Parkinsonism 75 / 7739
2
(OMIM) Presenile and senile dementia 2 / 7739
3
(HPO:0002423) Long-tract signs 7 / 7739
4
(OMIM) Neurofibrillary tangles composed of disordered microtubules 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions ...
Clinical Description OMIM Alzheimer (1907) provided the first report of the disease (see HISTORY).

Schottky (1932) described a familial form of presenile dementia in 4 generations. The diagnosis was confirmed at autopsy in a patient in the fourth generation. ...

Molecular genetics OMIM - Familial Alzheimer Disease 1

In affected members of 2 families with AD1, Goate et al. (1991) identified a mutation in the APP gene (V717I; 104760.0002). The average age of onset in 1 family was 57 ...

Population genetics OMIM In a population-based study in the city of Rouen, France (426,710 residents), Campion et al. (1999) estimated the prevalence of early-onset AD and autosomal dominant early-onset AD to be 41.2 and 5.3 per 100,000 persons, respectively. Early-onset AD ...