FAD
MCID: ERL029
MIFTS: 51
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Early-Onset, Autosomal Dominant Alzheimer Disease (FAD)
Categories:
Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Early-Onset, Autosomal Dominant Alzheimer Disease:
Name: Early-Onset, Autosomal Dominant Alzheimer Disease
52
Characteristics:Orphanet epidemiological data:58
early-onset autosomal dominant alzheimer disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult; Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Neuronal diseases Mental diseases Cardiovascular diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
Early-onset, autosomal dominant Alzheimer disease is a form of Alzheimer disease (AD) that develops before the age of 65. It is diagnosed in families that have more than one member with AD (usually multiple persons in more than one generation) in which the age of onset is consistently before age 60 and often between the ages of 30 and 60 years. In general, AD is a degenerative disease of the brain that causes gradual loss of memory, judgement, and the ability to function socially. There are three subtypes of early-onset familial AD which are each associated with changes (mutations ) in unique genes : (1) Alzheimer disease, type 1 is caused by mutations in the APP gene (2) Alzheimer disease, type 3 is caused by mutations in the PSEN1 gene (3) Alzheimer disease, type 4 is caused by mutations in the PSEN2 gene. All subtypes are inherited in an autosomal dominant manner. There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.
MalaCards based summary : Early-Onset, Autosomal Dominant Alzheimer Disease, also known as early-onset autosomal dominant alzheimer disease, is related to alzheimer disease 2 and alzheimer disease 3. An important gene associated with Early-Onset, Autosomal Dominant Alzheimer Disease is PSEN1 (Presenilin 1), and among its related pathways/superpathways are Alzheimers Disease and Presenilin-Mediated Signaling. The drugs Dopamine and Bromocriptine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotypes are hallucinations and hypertonia |
Human phenotypes related to Early-Onset, Autosomal Dominant Alzheimer Disease:58 31 (show all 27)
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Drugs for Early-Onset, Autosomal Dominant Alzheimer Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 8)
Interventional clinical trials:
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Genetic tests related to Early-Onset, Autosomal Dominant Alzheimer Disease:
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MalaCards organs/tissues related to Early-Onset, Autosomal Dominant Alzheimer Disease:40
Brain,
Testes,
Cortex,
Cerebellum,
Heart,
Skin,
Ovary
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Articles related to Early-Onset, Autosomal Dominant Alzheimer Disease:(show top 50) (show all 388)
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ClinVar genetic disease variations for Early-Onset, Autosomal Dominant Alzheimer Disease:6 (show all 17)
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Search
GEO
for disease gene expression data for Early-Onset, Autosomal Dominant Alzheimer Disease.
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Pathways related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:
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Cellular components related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:(show all 21)
Biological processes related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:(show all 40)
Molecular functions related to Early-Onset, Autosomal Dominant Alzheimer Disease according to GeneCards Suite gene sharing:
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