Details of Disease | DrugMAP

General Information of Disease (ID: DISY96OF)

Disease Name	Alzheimer disease 4
Synonyms	Alzheimer disease, familial, 4; Ad4; Alzheimer disease familial type 4; Alzheimer's disease type 4; AD4; Alzheimer disease-4; familial Alzheimer's disease, type 4; Alzheimer's disease 4; Alzheimer disease, familial4; Alzheimer disease type 4; familial Alzheimer disease, type 4; Alzheimer disease 4
Definition	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.
Disease Hierarchy	DISFAUJO: Early-onset autosomal dominant Alzheimer disease DISY96OF: Alzheimer disease 4
Disease Identifiers	MONDO ID MONDO_0011743 MESH ID C536596 UMLS CUI C1847200 OMIM ID 606889 MedGen ID 376072

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PSEN2	TTWN3F4	Strong	Autosomal dominant	[1]
PSEN2	TTWN3F4	Strong	CausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSEN2	OTOW778B	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.Neurobiol Aging. 2015 Oct;36(10):2674-7.e1. doi: 10.1016/j.neurobiolaging.2015.06.011. Epub 2015 Jun 15.