Details of Disease | DrugMAP

General Information of Disease (ID: DISCM9SG)

Disease Name	Hailey-Hailey disease
Synonyms	benign familial pemphigus; familial benign pemphigus; BCPM; familial benign chronic pemphigus; benign chronic pemphigus; pemphigus, benign familial; Hailey-Hailey disease; benign chronic familial pemphigus of Hailey-Hailey
Definition	Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).
Disease Hierarchy	DISIDQ39: Epidermal disease DISZAZ6M: Pemphigus DISSCALK: Hereditary skin disorder DISCM9SG: Hailey-Hailey disease
Disease Identifiers	MONDO ID MONDO_0008218 MESH ID D016506 UMLS CUI C0085106 OMIM ID 169600 MedGen ID 43100 Orphanet ID 2841 SNOMED CT ID 79468000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IVL	OT4VPNGY	Strong	Altered Expression	[1]
MFAP4	OT5W64QY	Strong	Biomarker	[2]
PXDNL	OT52SSS5	Strong	Genetic Variation	[3]
SLURP1	OT89YD2E	Strong	Biomarker	[4]
ATP2C1	OTQN51T3	Definitive	Autosomal dominant	[5]
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References

1	Involucrin expression is decreased in Hailey-Hailey keratinocytes owing to increased involucrin mRNA degradation.J Invest Dermatol. 2007 Aug;127(8):1973-9. doi: 10.1038/sj.jid.5700785. Epub 2007 Mar 29.
2	Altered levels of focal adhesion and extracellular matrix-receptor interacting proteins were identified in Hailey-Hailey disease by quantitative iTRAQ proteome analysis.J Cell Biochem. 2019 Mar;120(3):3801-3812. doi: 10.1002/jcb.27662. Epub 2018 Dec 3.
3	Pmr-1 gene affects susceptibility of Caenorhabditis elegans to Staphylococcus aureus infection through glycosylation and stress response pathways' alterations.Virulence. 2019 Dec;10(1):1013-1025. doi: 10.1080/21505594.2019.1697118.
4	Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice.J Invest Dermatol. 2014 Jun;134(6):1589-1598. doi: 10.1038/jid.2014.19. Epub 2014 Jan 17.
5	Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest. 2004 Nov;114(10):1467-74. doi: 10.1172/JCI21791.