Details of Disease

General Information of Disease (ID: DIS3ZNAK)

• Disease Name: Hidradenitis suppurativa
• Synonyms: acne inversa, familial; hidradenitis suppurativa; acne inversa; verneuil disease; ectopic acne; pyoderma fistulans significa; fox den disease
• Disease Class: ED92: Hidradenitis suppurativa
• Definition: A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.
• Disease Hierarchy:
  DISQGZGU: Hidradenitis
  DIS3ZNAK: Hidradenitis suppurativa
• ICD Code:
  ICD-11: ICD-11: ED92.0
  ICD-10: ICD-10: L73.2
  Expand ICD-11: 'ED92.0
  Expand ICD-10: 'L73.2
• Disease Identifiers:
  MONDO ID: MONDO_0006559
  MESH ID: D017497
  UMLS CUI: C0162836
  MedGen ID: 57993
  HPO ID: HP:0040154
  Orphanet ID: 387
  SNOMED CT ID: 59393003

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Adalimumab	DMQMV1B	Approved	Antibody	[1]

This Disease is Treated as An Indication in 6 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
MABp1	DM8D13S	Phase 3	NA	[2]
Bermekimab	DM7A592	Phase 2	Antibody	[3]
INCB54707	DMDK0HX	Phase 2	NA	[2]
LY3041658	DMT733X	Phase 2	Monoclonal Antibody	[4]
RIST4721	DMA3DKO	Phase 2	Small molecule	[5]
Zunsemetinib	DMNFNK7	Phase 2	Small molecule	[6]

This Disease is Treated as An Indication in 1 Drugs in Phase 2 Trial

Drug Name	Drug ID	Highest Status	Drug Type	REF
IFX-1	DMPLQ1V	Phase 2/3 Trial	Monoclonal antibody	[2]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJB2	TTRGZX3	Strong	Biomarker	[7]
IL1RL2	TTUS18T	Strong	Biomarker	[8]
IL20	TTNZMY2	Strong	Biomarker	[9]
IL23A	TTC1GLB	Strong	Biomarker	[10]
NLRP3	TT4EN8X	Strong	Biomarker	[11]
NOD2	TTYPUHA	Strong	Biomarker	[12]
PSEN1	TTZ3S8C	Strong	Genetic Variation	[13]
TIE1	TTT4236	Strong	Biomarker	[14]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SULT1B1	DED5UR3	Strong	Genetic Variation	[15]

This Disease Is Related to 18 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PSENEN	OTJ7M7G9	moderate	Genetic Variation	[16]
AGO1	OTD3R434	Strong	Biomarker	[17]
C5AR2	OTP1Q82J	Strong	Biomarker	[11]
DCD	OTV5PBGJ	Strong	Altered Expression	[18]
ELOVL7	OT89NYVC	Strong	Genetic Variation	[15]
IDH3B	OTR89YF5	Strong	Biomarker	[19]
IL12RB1	OTM1IJO2	Strong	Genetic Variation	[20]
IL17B	OTS86H50	Strong	Biomarker	[9]
IL1F10	OTJAASGC	Strong	Altered Expression	[8]
IL26	OT2WYCW4	Strong	Biomarker	[9]
IL36RN	OT5CO95A	Strong	Altered Expression	[8]
KLRB1	OTQ2959Y	Strong	Altered Expression	[21]
MEFV	OTRJ6S6K	Strong	Genetic Variation	[22]
NCSTN	OT5QBTA4	Strong	Genetic Variation	[23]
PAPPA	OTTTG9PG	Strong	Genetic Variation	[24]
PSTPIP1	OT4PGEAB	Strong	Biomarker	[12]
TARBP2	OT1QQ8H3	Strong	Biomarker	[17]
TET3	OT76U3YF	Strong	Altered Expression	[19]

References

• [1] Hidradenitis Suppurativa: Advances in Diagnosis and Treatment. JAMA. 2017 Nov 28;318(20):2019-2032.
• [2] Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
• [3] ClinicalTrials.gov (NCT03512275) A Phase II, Open Label Study of Bermekimab in Patients With Moderate to Severe Hidradenitis Suppurativa. U.S.National Institutes of Health.
• [4] ClinicalTrials.gov (NCT04493502) A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study to Evaluate the Efficacy and Safety of LY3041658 in Adults With Moderate-to-Severe Hidradenitis Suppurativa. U.S.National Institutes of Health.
• [5] ClinicalTrials.gov (NCT05348681) A Randomized, Double-blinded, Placebo-controlled, Phase 2a Study to Evaluate the Efficacy and Safety of RIST4721 in Subjects With Hidradenitis Suppurativa. U.S.National Institutes of Health.
• [6] ClinicalTrials.gov (NCT05216224) A Phase 2a, Randomized, Double-blind, Placebo-controlled Study to Investigate the Efficacy, Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of ATI-450 vs Placebo in Patients With Moderate to Severe HS. U.S.National Institutes of Health.
• [7] Keratitis-ichthyosis-deafness syndrome in association with follicular occlusion triad.Eur J Dermatol. 2005 Sep-Oct;15(5):347-52.
• [8] Interleukin-36 in hidradenitis suppurativa: evidence for a distinctive proinflammatory role and a key factor in the development of an inflammatory loop.Br J Dermatol. 2018 Mar;178(3):761-767. doi: 10.1111/bjd.16019. Epub 2018 Jan 31.
• [9] A new T helper 17 cytokine in hidradenitis suppurativa: antimicrobial and proinflammatory role of interleukin-26.Br J Dermatol. 2019 Nov;181(5):1038-1045. doi: 10.1111/bjd.17854. Epub 2019 Jun 23.
• [10] Clinical, microbiological, immunological and imaging characteristics of tunnels and fistulas in hidradenitis suppurativa and Crohn's disease.Exp Dermatol. 2020 Feb;29(2):118-123. doi: 10.1111/exd.14036. Epub 2019 Oct 1.
• [11] Integrating complement into the molecular pathogenesis of Hidradenitis Suppurativa.Exp Dermatol. 2020 Jan;29(1):86-92. doi: 10.1111/exd.14056. Epub 2019 Nov 29.
• [12] Pyoderma gangrenosum and its syndromic forms: evidence for a link with autoinflammation.Br J Dermatol. 2016 Nov;175(5):882-891. doi: 10.1111/bjd.14691. Epub 2016 Aug 23.
• [13] Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.Hum Mol Genet. 2019 Apr 1;28(7):1173-1182. doi: 10.1093/hmg/ddy414.
• [14] In silico Analysis of Gamma-Secretase-Complex Mutations in Hidradenitis Suppurativa Demonstrates Disease-Specific Substrate Recognition and Cleavage Alterations.Front Med (Lausanne). 2019 Sep 19;6:206. doi: 10.3389/fmed.2019.00206. eCollection 2019.
• [15] Identification of Clinical and Genetic Parameters Associated with Hidradenitis Suppurativa in Inflammatory Bowel Disease.Inflamm Bowel Dis. 2016 Jan;22(1):106-13. doi: 10.1097/MIB.0000000000000579.
• [16] 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.
• [17] The microRNA effector RNA-induced silencing complex in hidradenitis suppurativa: a significant dysregulation within active inflammatory lesions.Arch Dermatol Res. 2017 Sep;309(7):557-565. doi: 10.1007/s00403-017-1752-1. Epub 2017 Jun 20.
• [18] Transcriptome patterns in hidradenitis suppurativa: support for the role of antimicrobial peptides and interferon pathways in disease pathogenesis.Clin Exp Dermatol. 2019 Dec;44(8):882-892. doi: 10.1111/ced.13959. Epub 2019 Apr 24.
• [19] Reduced ten-eleven translocation and isocitrate dehydrogenase expression in inflammatory hidradenitis suppurativa lesions.Eur J Dermatol. 2018 Aug 1;28(4):449-456. doi: 10.1684/ejd.2018.3369.
• [20] Haplotypes of IL-12R1 impact on the clinical phenotype of hidradenitis suppurativa.Cytokine. 2013 May;62(2):297-301. doi: 10.1016/j.cyto.2013.03.008. Epub 2013 Apr 2.
• [21] Hidradenitis Suppurativa Is Characterized by Dysregulation of the Th17:Treg Cell Axis, Which Is Corrected by Anti-TNF Therapy.J Invest Dermatol. 2017 Nov;137(11):2389-2395. doi: 10.1016/j.jid.2017.05.033. Epub 2017 Jun 23.
• [22] Association of pyrin mutations and autoinflammation withcomplex phenotype hidradenitis suppurativa: a case-control study.Br J Dermatol. 2019 Jun;180(6):1459-1467. doi: 10.1111/bjd.17466. Epub 2019 Feb 20.
• [23] A novel NCSTN gene mutation in a Chinese family with acne inversa.Mol Genet Genomics. 2018 Dec;293(6):1469-1475. doi: 10.1007/s00438-018-1475-9. Epub 2018 Jul 20.
• [24] PAPA, PASH and PAPASH Syndromes: Pathophysiology, Presentation and Treatment.Am J Clin Dermatol. 2017 Aug;18(4):555-562. doi: 10.1007/s40257-017-0265-1.