Details of Disease

General Information of Disease (ID: DIS6VM84)

Disease Name Acne inversa, familial, 3
Synonyms ACNINV3; PSEN1 familial acne inversa; acne inversa, familial, type 3; familial acne inversa caused by mutation in PSEN1; acne inversa, familial, 3
Definition Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene.
Disease Hierarchy
DIS7DVKA: Familial acne inversa
DIS6VM84: Acne inversa, familial, 3
Disease Identifiers
MONDO ID
MONDO_0013398
UMLS CUI
C3151038
OMIM ID
613737
MedGen ID
462388

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
PSEN1 TTZ3S8C Limited Autosomal dominant [1]
PSEN1 TTZ3S8C 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
PSEN1 OTKL39RT Limited Autosomal dominant [1]
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References

1 Gamma-secretase gene mutations in familial acne inversa. Science. 2010 Nov 19;330(6007):1065. doi: 10.1126/science.1196284. Epub 2010 Oct 7.
2 PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.J Mov Disord. 2018 Jan;11(1):45-48. doi: 10.14802/jmd.17066. Epub 2018 Jan 11.