Details of Disease

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

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 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APP	OTKFD7R4	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• [1] Early-Onset Familial Alzheimer Disease C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1999 Sep 24 [updated 2012 Oct 18].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.