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Alzheimer disease 18

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.
Uniprot Description A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
Disease Ontology Description An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21.
Mondo Term and Equivalent IDs
MONDO:0014265:  Alzheimer disease 18
UMLS:C3810041: