Details of Disease

General Information of Disease (ID: DIS7DVKA)

Disease Name Familial acne inversa
Synonyms hereditary hidradenitis suppurativa; ACNINV; familial hidradenitis suppurativa
Definition An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome.
Disease Hierarchy
DIS3ZNAK: Hidradenitis suppurativa
DISSCALK: Hereditary skin disorder
DIS7DVKA: Familial acne inversa
Disease Identifiers
MONDO ID
MONDO_0024516
MESH ID
C538118
UMLS CUI
C1840560
MedGen ID
326766

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PSEN1 TTZ3S8C Strong Genetic Variation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NCSTN OT5QBTA4 Strong Genetic Variation [2]
PSENEN OTJ7M7G9 Strong Genetic Variation [3]
RAB31 OTMLXQZ0 Strong Altered Expression [2]
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References

1 Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease.Hum Mol Genet. 2014 Feb 1;23(3):602-17. doi: 10.1093/hmg/ddt448. Epub 2013 Sep 18.
2 Nicastrin/miR-30a-3p/RAB31 Axis Regulates Keratinocyte Differentiation by Impairing EGFR Signaling in Familial Acne Inversa.J Invest Dermatol. 2019 Jan;139(1):124-134. doi: 10.1016/j.jid.2018.07.020. Epub 2018 Aug 16.
3 A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.Br J Dermatol. 2018 Feb;178(2):502-508. doi: 10.1111/bjd.16000. Epub 2017 Dec 18.