MCID: HDR002
MIFTS: 54

Hidradenitis Suppurativa malady

Skin, Genetic categories

Summaries for Hidradenitis Suppurativa

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Hidradenitis suppurativa (hs) is a chronic skin disease characterized by recurrent, painful, boil-like lumps (nodules) under the skin. hs affects the areas around skin folds (e.g., armpits, groin, and breasts) and where apocrine glands (a form of sweat gland) and hair follicles are found. it is not contagious, but it is recurrent. it typically manifests as a single boil-like, pus-filled abscess or hard sebaceous lumps (lumps composed of sebum, or oil, which is excreted by the sebacous glands associated with hair follicles) and may progress to painful, deep-seated, inflamed clusters of lesions with chronic seepage involving significant scarring. the specific cause of hs is unknown, although it probably results from a combination of genetic and environmental factors.  last updated: 6/7/2011

MalaCards: Hidradenitis Suppurativa, also known as acne inversa, is related to acne and squamous cell carcinoma. An important gene associated with Hidradenitis Suppurativa is PSENEN (presenilin enhancer gamma secretase subunit), and among its related pathways are Signaling by NOTCH3 and Notch Pathway. The compounds mrk 560 and jlk 6 have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and adrenal gland, and related mouse phenotypes are integument and craniofacial.

Genetics Home Reference:21 Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps (nodules) under the skin. The nodules become inflamed and painful. They tend to break open (rupture), causing abscesses that drain fluid and pus. As the abscesses heal, they produce significant scarring of the skin.

MedlinePlus:34 Hidradenitis suppurativa (hs) is a chronic disease of a type of sweat gland. it can occur in one or multiple areas of your body. hs usually develops in your armpits, groin, and anal area. it causes long-term skin inflammation and can be painful. symptoms include blackheads and red, tender bumps, called abscesses. the abscesses get bigger, break open, and leak pus tunnels that form under the skin between abscesses scarring no one knows what causes hs. it is more common in women, african americans, and people who have had acne. it usually starts after the teenage years. treatments include antibiotics, anti-inflammatory medicines, and sometimes surgery. losing weight and wearing loose clothing can help, too.

Wikipedia:64 Hidradenitis suppurativa (HS) is a skin disease that most commonly affects areas bearing apocrine sweat... more...

Description from OMIM:47 613736,613737,142690

Aliases & Classifications for Hidradenitis Suppurativa

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 34MedlinePlus, 61UMLS, 57SNOMED-CT, 47OMIM, 35MeSH, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Skin


Aliases & Descriptions:

hidradenitis suppurativa 8 43 21 10 34 61
acne inversa 43 21
hidradenitides, suppurative 21
suppurative hidradenitides 21
hidradenitis, suppurative 21
suppurative hidradenitis 21
acne inversa, familial 8


External Ids:

Disease Ontology8 DOID:2280
MeSH35 D017497
ICD1025 L73.2

Related Diseases for Hidradenitis Suppurativa

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hidradenitis Suppurativa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 106)
idRelated DiseaseScoreTop Affiliating Genes
1acne31.5SHBG
2squamous cell carcinoma31.2TNFRSF1B, PIP, DSC2, DSG2, CYP1A1, KRT1
3arthropathy30.6NOD2, TNFRSF1B
4adenocarcinoma30.2PIP, CYP1A1, KRT1, KRT14, KRT10, KRT8
5crohn's disease10.8
6arthritis10.6
7pyoderma gangrenosum10.6
8degos disease10.6
9dowling-degos disease10.6
10pyoderma gangrenosum - acne - suppurative hidradenitis10.5
11acne inversa, familial, 110.5
12cellulitis10.5
13spondyloarthropathy10.5
14n syndrome10.4
15acne inversa, familial, 310.4
16acne inversa, familial, 210.4
17pachyonychia congenita10.4
18reactive arthritis10.4
19verrucous carcinoma10.4
20amyloidosis10.4
21vulva squamous cell carcinoma10.4
22steatocystoma multiplex10.4
23anal fistula10.4
24parathyroid carcinoma10.2
25reflex sympathetic dystrophy10.2
26ankylosing spondylitis10.2
27sapho syndrome10.2
28anal paget's disease10.2
29hailey-hailey disease10.2
30ulcerative colitis10.2
31mooren's ulcer10.2
32hypercalcemia10.2
33mucinous adenocarcinoma10.2
34behcet's disease10.2
35spondylitis10.2
36dissecting cellulitis of the scalp10.2
37mycobacterium chelonae10.2
38spondylarthropathy10.2
39amyloidosis, secondary10.2
40granulomatous mastitis10.2
41malignant peritoneal mesothelioma10.2
42peritoneal carcinoma10.2
43li-fraumeni syndrome10.0PIP
44ductal carcinoma in situ10.0KRT14
45basal cell carcinoma10.0SHH
46epidermolytic acanthoma10.0KRT1
47hypospadias10.0SRD5A1
48prostatitis10.0SRD5A1
49keratoacanthoma10.0KRT10
50hidrocystoma10.0PIP

Graphical network of the top 20 diseases related to Hidradenitis Suppurativa:



Diseases related to hidradenitis suppurativa

Clinical Features for Hidradenitis Suppurativa

Sources:
47OMIM
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Clinical features from OMIM:

613736,613737,142690

Drugs & Therapeutics for Hidradenitis Suppurativa

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hidradenitis Suppurativa

Drug clinical trials:

Search ClinicalTrials for Hidradenitis Suppurativa

Search NIH Clinical Center for Hidradenitis Suppurativa

Search CenterWatch for Hidradenitis Suppurativa

Genetic Tests for Hidradenitis Suppurativa

Anatomical Context for Hidradenitis Suppurativa

Sources:
33MalaCards
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MalaCards organs/tissues related to Hidradenitis Suppurativa:

33
Skin, Lymph node, Adrenal gland, Breast, Myeloid, B cells, Pituitary

Animal Models for Hidradenitis Suppurativa or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Hidradenitis Suppurativa

Sources:
51PubMed
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Articles related to Hidradenitis Suppurativa:

(show top 50)    (show all 502)
idTitleAuthorsYear
1
The prevalence of metabolic syndrome in patients with hidradenitis suppurativa. (24433875)
2014
2
Successful long-term triple disease control by ustekinumab in a patient with Behcet's disease, psoriasis and hidradenitis suppurativa. (23148307)
2013
3
An open-label study of anakinra for the treatment ofA moderate to severe hidradenitis suppurativa. (24314876)
2013
4
Acne inversa goes an extra mile than hidradenitis suppurativa. (24278084)
2013
5
Preliminary findings suggest hidradenitis suppurativa may be due to defective follicular support. (23320858)
2013
6
Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene. (23571383)
2013
7
Disseminated Mycobacterium chelonae infection: Complicating a case of hidradenitis suppurativa. (24350020)
2013
8
Modified abscess drainage in treatment of eight cases with hidradenitis suppurativa in China. (23379443)
2013
9
Hidradenitis Suppurativa And Pediatric Crohn's Disease; A Case Series. (24121140)
2013
10
Myeloid marker S100A8/A9 and lymphocyte marker, soluble interleukin 2 receptor: biomarkers of hidradenitis suppurativa disease activity? (23320892)
2013
11
Treatment of severe hidradenitis suppurativa with infliximab in combination with surgical interventions. (22229974)
2012
12
A systematic review of treatments for hidradenitis suppurativa. (22184715)
2012
13
Efficacy and tolerance of prolonged infliximab treatment of moderate-to-severe forms of hidradenitis suppurativa. (22759562)
2012
14
The thoracodorsal artery perforator flap in the treatment of axillary hidradenitis suppurativa: effect on preservation of arm abduction. (21921770)
2011
15
The perils of a defective medical communication: fatal neglected squamous cell carcinoma arising in perineal hidradenitis suppurativa. (21897818)
2011
16
Management of regional hidradenitis suppurativa with vacuum-assisted closure and split thickness skin grafts. (21587057)
2011
17
Atypical hidradenitis suppurativa involving the posterior neck and occiput. (22106138)
2011
18
Hidradenitis suppurativa: a review of cause and treatment. (21192260)
2011
19
Psychosocial impact of hidradenitis suppurativa: a qualitative study. (21394419)
2011
20
Interstitial keratitis secondary to severe hidradenitis suppurativa: a case report and literature review. (20628295)
2010
21
Hidradenitis suppurativa complicating naevus comedonicus: the possible influence of mechanical stress on the development of hidradenitis suppurativa. (20389029)
2010
22
Painful hidradenitis suppurativa. (20473053)
2010
23
Questionnaire-based diagnosis of hidradenitis suppurativa: specificity, sensitivity and positive predictive value of specific diagnostic questions. (20331444)
2010
24
Cutaneous PGP 9.5 distribution patterns in hidradenitis suppurativa. (20091410)
2010
25
Reactive arthritis associated with hidradenitis suppurativa. (19397229)
2009
26
Treatment of hidradenitis suppurativa with tumour necrosis factor-alpha inhibitors. (19997689)
2009
27
Hidradenitis suppurativa: a comprehensive review. (19293006)
2009
28
Long-term successful adalimumab therapy in severe hidradenitis suppurativa. (19451504)
2009
29
Hidradenitis suppurativa: importance of early treatment; efficient treatment with electrosurgery. (18093196)
2008
30
Treatment of hidradenitis suppurativa with a nonablative radiofrequency device. (18053033)
2008
31
Topical photodynamic therapy in the treatment of hidradenitis suppurativa. (19356651)
2008
32
Hidradenitis suppurativa in 64 female patients: retrospective study comparing oral antibiotics and antiandrogen therapy. (17601419)
2007
33
Altered innate and adaptive immune responses in patients with hidradenitis suppurativa. (17199566)
2007
34
Dowling-Degos disease, hidradenitis suppurativa and arthritis in mother and daughter. (16681601)
2006
35
Suggestions for uniform outcome variables when reporting treatment effects in hidradenitis suppurativa. (12890229)
2003
36
Diarrhea, nephrotic syndrome and hidradenitis suppurativa: an unusual case. (12480982)
2003
37
Treatment of persistent painful nodules of hidradenitis suppurativa with cryotherapy. (12780702)
2003
38
Vulvar hidradenitis suppurativa. Immunohistochemical evaluation of apocrine and eccrine involvement. (12380447)
2002
39
Methotrexate is of limited value in the treatment of hidradenitis suppurativa. (12372104)
2002
40
Hidradenitis suppurativa polyposa. (10982024)
2000
41
Long-term results of wide surgical excision in 106 patients with hidradenitis suppurativa. (10886270)
2000
42
What's new in hidradenitis suppurativa? (11305370)
2000
43
The homogeneity of hidradenitis suppurativa lesions. A histological study of intra-individual variation. (9201239)
1997
44
Endocrine factors in pre- and postmenopausal women with hidradenitis suppurativa. (9205531)
1997
45
Pathogenesis, clinical features and management of hidradenitis suppurativa. (9135232)
1997
46
Lithium therapy associated with hidradenitis suppurativa. (9394991)
1997
47
Hidradenitis suppurativa and Crohn's disease in two families: a significant association? (1615957)
1992
48
Perineal hidradenitis suppurativa: presentation of two unusual complications and a review. (1952719)
1991
49
Hidradenitis suppurativa in Crohn's disease. (1954129)
1991
50
Hidradenitis suppurativa: a disease of follicular epithelium, rather than apocrine glands. (2369556)
1990

Genetic Variations for Hidradenitis Suppurativa

Expression for genes affiliated with Hidradenitis Suppurativa

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hidradenitis Suppurativa

Search GEO for disease gene expression data for Hidradenitis Suppurativa.

Pathways for genes affiliated with Hidradenitis Suppurativa

Sources:
54Reactome, 60Tocris Bioscience, 12EMD Millipore, 53R&D Systems, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Hidradenitis Suppurativa according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.2NCSTN, PSENEN
210.1PSEN1, PSENEN
3
Hide members
10.0PSEN1, PSENEN, NCSTN
410.0PSEN1, PSENEN, NCSTN
5
Hide members
10.0PSEN1, PSENEN, NCSTN
6
Hide members
10.0NCSTN, PSENEN, PSEN1
710.0NCSTN, PSENEN, PSEN1
810.0PSEN1, PSENEN, NCSTN
910.0NCSTN, PSENEN, PSEN1
1010.0NCSTN, PSENEN, PSEN1
1110.0NCSTN, PSENEN, PSEN1
129.9KRT8, KRT14, KRT1
139.8PSEN1, PSENEN, NCSTN, SHH

Compounds for genes affiliated with Hidradenitis Suppurativa

Sources:
60Tocris Bioscience, 45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB
See all sources

Compounds related to Hidradenitis Suppurativa according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1mrk 5606010.5PSEN1, PSENEN
2jlk 66010.5PSEN1, PSENEN
3begacestat6010.4PSEN1, PSENEN
4l-685,4586010.4PSEN1, PSENEN
5dapt6010.4PSEN1, PSENEN
6estrogen4510.3TNFRSF1B, SRD5A1
7epitestosterone4510.2SHBG, SRD5A1
8enterolactone4510.1SRD5A1, SHBG
9hematoxylin4510.1KRT1, KRT14, KRT10, KRT8
10formestane4510.1SRD5A1, SHBG
11ment4510.1SRD5A1, SHBG
12toremifene45 1111.1CYP1A1, SHBG, TNFRSF1B
13dexamethasone45 50 29 1113.0TNFRSF1B, SHBG, CYP1A1
14flutamide45 60 1112.0SHBG, CYP1A1, SRD5A1
15androstenediol459.9HSD17B13, SHBG, SRD5A1
16sildenafil45 50 29 11 2413.9SHBG, CYP1A1, SRD5A1
17valine459.8PSEN1, CYP1A1, KRT1, PTHLH
18ketoconazole45 29 11 2412.8SHBG, CYP1A1, SRD5A1
19isotretinoin45 1110.8KRT1, KRT14, KRT10, SRD5A1, PTHLH
20bromodeoxyuridine459.7PSEN1, KRT1, KRT14, KRT10, KRT8, PTHLH
21dehydroepiandrosterone sulfate459.7HSD17B13, SHBG, SRD5A1
22progestin459.7HSD17B13, SHBG, SRD5A1, PTHLH
23dihydrotestosterone45 29 11 2412.6HSD17B13, PIP, SHBG, SRD5A1
24progestins459.6HSD17B13, PIP, SHBG, SRD5A1
25norepinephrine45 11 2411.6PTHLH, CYP1A1, SHBG, PSEN1, TNFRSF1B
26estrone45 29 11 2412.6HSD17B13, SHBG, CYP1A1, SRD5A1
27paraffin459.6PIP, KRT1, KRT14, KRT10, KRT8, PTHLH
28calcitriol45 60 11 2412.6PTHLH, SRD5A1, KRT10, SHBG
29norgestimate45 1110.6SRD5A1, SHBG
30retinoid459.6HSD17B13, SHBG, KRT1, KRT14, KRT10, KRT8
31dhea459.5SRD5A1, SHBG, HSD17B13
32lysine459.5TNFRSF1B, PSEN1, RNASE7, KRT1, KRT14, PTHLH
33androstenedione45 2410.4HSD17B13, PIP, SHBG, CYP1A1, SRD5A1
34vitamin d459.4TNFRSF1B, SHBG, KRT14, KRT10, SRD5A1, PTHLH
35glucose459.3PTHLH, KRT8, KRT14, PSEN1, TNFRSF1B, HSD17B13
36lactate459.3HSD17B13, SHBG, CYP1A1, KRT8, PTHLH
37threonine459.2TNFRSF1B, PSEN1, KRT1, KRT14, KRT10, KRT8
38cisplatin45 50 60 1112.2TNFRSF1B, CYP1A1, KRT14, KRT8, PTHLH
39cholesterol45 29 11 2412.2HSD17B13, TNFRSF1B, PSEN1, PSENEN, NCSTN, SHH
40arginine459.2TNFRSF1B, PSEN1, SHBG, CYP1A1, KRT1, KRT14
41estradiol45 11 2411.1HSD17B13, PIP, SHBG, CYP1A1, SRD5A1, PTHLH
42tamoxifen45 50 29 1111.9HSD17B13, TNFRSF1B, PIP, SHBG, CYP1A1, KRT14
43tyrosine458.8TNFRSF1B, PSEN1, DSG2, KRT1, KRT14, KRT10
44lipid458.7HSD17B13, TNFRSF1B, PSEN1, PSENEN, NCSTN, SHBG
45serine458.6HSD17B13, TNFRSF1B, PSEN1, CYP1A1, KRT1, KRT14
46steroid458.6HSD17B13, TNFRSF1B, PIP, SHBG, KRT1, KRT10
47calcium45 50 11 2411.5TNFRSF1B, PSEN1, DSC1, DSC2, DSG2, KRT1
48testosterone45 60 11 2411.5HSD17B13, TNFRSF1B, PIP, SHBG, CYP1A1, KRT1
49progesterone45 60 29 11 2412.4PTHLH, HSD17B13, PIP, SHBG, CYP1A1, KRT1
50retinoic acid45 249.3TNFRSF1B, PSEN1, SHBG, DSC1, CYP1A1, KRT1

GO Terms for genes affiliated with Hidradenitis Suppurativa

Sources:
16Gene Ontology
See all sources

Cellular components related to Hidradenitis Suppurativa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.9KRT8, KRT10, KRT14
2keratin filamentGO:0450959.6KRT8, KRT10, KRT14, KRT1
3desmosomeGO:0300579.5DSC1, DSC2, DSG2

Biological processes related to Hidradenitis Suppurativa according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1bundle of His cell to Purkinje myocyte communicationGO:08606910.2DSG2, DSC2
2amyloid precursor protein catabolic processGO:04298710.2NCSTN, PSENEN, PSEN1
3beta-amyloid metabolic processGO:05043510.2NCSTN, PSEN1
4Notch receptor processingGO:00722010.2PSEN1, PSENEN, NCSTN
5membrane protein ectodomain proteolysisGO:00650910.1NCSTN, PSENEN, PSEN1
6epithelial cell proliferationGO:05067310.1PSEN1, NCSTN
7positive regulation of catalytic activityGO:04308510.1PSEN1, PSENEN, NCSTN
8cell fate specificationGO:00170810.1SHH, PSEN1
9dorsal/ventral neural tube patterningGO:02190410.0SHH, PSEN1
10protein processingGO:01648510.0PTHLH, NCSTN, PSENEN, PSEN1
11membrane protein intracellular domain proteolysisGO:0312939.9NCSTN, PSENEN

Products for genes affiliated with Hidradenitis Suppurativa

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Sources for Hidradenitis Suppurativa

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet