General Information of Disease (ID: DISFAUJO)

Disease Name Early-onset autosomal dominant Alzheimer disease
Synonyms early-onset, autosomal dominant Alzheimer disease; EOFAD; early-onset familial autosomal dominant Alzheimer disease
Definition A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
Disease Hierarchy
DISFWL8F: Hereditary dementia
DISE75U4: Familial Alzheimer disease
DISPN7D2: Inherited neurodegenerative disorder
DIS3HIWD: Autosomal dominant disease
DISFAUJO: Early-onset autosomal dominant Alzheimer disease

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APP TTE4KHA Supportive Autosomal dominant [1]
PSEN1 TTZ3S8C Supportive Autosomal dominant [1]
PSEN2 TTWN3F4 Supportive Autosomal dominant [1]
------------------------------------------------------------------------------------
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APP OTKFD7R4 Supportive Autosomal dominant [1]
PSEN1 OTKL39RT Supportive Autosomal dominant [1]
PSEN2 OTOW778B Supportive Autosomal dominant [1]
SORL1 OTQ8FFNS Supportive Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Early-Onset Familial Alzheimer Disease C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1999 Sep 24 [updated 2012 Oct 18]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry. 2012 Sep;17(9):875-9. doi: 10.1038/mp.2012.15. Epub 2012 Apr 3.