Orphanet: presenilin 1

Search for a gene

PSEN1 - presenilin 1

Synonym(s) : FAD, PS1, S182
Previous symbols and names : AD3, Alzheimer disease 3
Type : gene with protein product
Chromosomal location : 14q24.2
OMIM: 104311
HGNC: 9508
UniProtKB: P49768
Genatlas: PSEN1
GenCC: PSEN1
Ensembl: ENSG00000080815
IUPHAR-DB: 2402
Reactome: P49768
LOVD: PSEN1

Diseases list

Disease-causing germline mutation(s) in Behavioral variant of frontotemporal dementia ORPHA:275864
Disease-causing germline mutation(s) in Early-onset autosomal dominant Alzheimer disease ORPHA:1020
Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy ORPHA:154
Disease-causing germline mutation(s) in NON RARE IN EUROPE: Hidradenitis suppurativa ORPHA:387
Disease-causing germline mutation(s) in Progressive non-fluent aphasia ORPHA:100070
Disease-causing germline mutation(s) in Semantic dementia ORPHA:100069

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (102)

Research activities on this gene

Specialised Social Services

Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.