MCID: HDR002
MIFTS: 57

Hidradenitis Suppurativa malady

Skin diseases, Genetic diseases categories

Summaries for Hidradenitis Suppurativa

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42NIH Rare Diseases, 33MedlinePlus, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 l-685,458 and mrk 560 have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and lymph node, and related mouse phenotypes are integument and craniofacial.

MedlinePlus:33 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.

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.

Wikipedia:63 Hidradenitis suppurativa (HS) is a skin disease that most commonly affects areas bearing apocrine sweat... more...

Description from OMIM:46 613736,613737,142690

Aliases & Classifications for Hidradenitis Suppurativa

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 33MedlinePlus, 60UMLS, 56SNOMED-CT, 46OMIM, 34MeSH, 25ICD10
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Classifications:

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


Aliases & Descriptions:

hidradenitis suppurativa 8 42 21 10 33 60
acne inversa 42 21
hidradenitides, suppurative 21
suppurative hidradenitides 21
hidradenitis, suppurative 21
suppurative hidradenitis 21
acne inversa, familial 8


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Disease Ontology8 DOID:2280
MeSH34 D017497
ICD1025 L73.2

Related Diseases for Hidradenitis Suppurativa

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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 120)
idRelated DiseaseScoreTop Affiliating Genes
1acne31.4SHBG
2squamous cell carcinoma31.1TNFRSF1B, PIP, DSC2, DSG2, CYP1A1, KRT1
3psoriasis30.8TNFRSF1B, RNASE7, KRT1, KRT14, KRT10, NOD2
4arthropathy30.6NOD2, TNFRSF1B
5keratoacanthoma30.2KRT10
6keratosis30.2KRT1, KRT10
7skin disease30.2DSC1, KRT1, KRT14, KRT10, SRD5A1
8melanoma30.2SRD5A1, KRT8, KRT14, CYP1A1
9adenocarcinoma30.2PIP, CYP1A1, KRT1, KRT14, KRT10, KRT8
10hidradenitis11.5
11crohn's disease10.8
12arthritis10.6
13pyoderma gangrenosum10.6
14pyoderma10.6
15acne inversa, familial, 110.5
16cellulitis10.5
17keratitis10.5
18spondyloarthropathy10.5
19interstitial keratitis10.4
20acne inversa, familial, 310.4
21acne inversa, familial, 210.4
22urethritis10.3
23pachyonychia congenita10.3
24reactive arthritis10.3
25verrucous carcinoma10.3
26amyloidosis10.3
27elephantiasis10.3
28hair disease10.3
29lymphedema10.3
30nephrotic syndrome10.3
31sebaceous gland disease10.3
32pyoderma gangrenosum - acne - suppurative hidradenitis10.3
33syndromic diarrhea10.2
34fox fordyce disease10.2
35parathyroid carcinoma10.2
36reflex sympathetic dystrophy10.2
37ankylosing spondylitis10.2
38sapho syndrome10.2
39anal paget's disease10.2
40hailey-hailey disease10.2
41ulcerative colitis10.2
42mooren's ulcer10.2
43hypercalcemia10.2
44mucinous adenocarcinoma10.2
45behcet's disease10.2
46chorioretinitis10.2
47diarrhea10.2
48inflammatory bowel disease10.2
49lymphangioma10.2
50mastitis10.2

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



Diseases related to hidradenitis suppurativa

Clinical Features for Hidradenitis Suppurativa

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46OMIM
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Clinical features from OMIM:

613736,613737,142690

Drugs & Therapeutics for Hidradenitis Suppurativa

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hidradenitis Suppurativa

Drug clinical trials:

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Search NIH Clinical Center for Hidradenitis Suppurativa

Search CenterWatch for Hidradenitis Suppurativa

Genetic Tests for Hidradenitis Suppurativa

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Anatomical Context for Hidradenitis Suppurativa

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32MalaCards
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MalaCards organs/tissues related to Hidradenitis Suppurativa:

32
Skin, Breast, Lymph node, Myeloid, Pituitary

Animal Models for Hidradenitis Suppurativa or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hidradenitis Suppurativa:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.7TNFRSF1B, PSEN1, KRT1, KRT14
2MP:00053829.1PSEN1, NCSTN, SHH, DSC1, KRT10, PTHLH
3MP:00053819.0TNFRSF1B, PSEN1, SHH, KRT14, KRT8, NOD2
4MP:00053918.9TNFRSF1B, PSEN1, NCSTN, SHH, DSC1, KRT14
5MP:00053848.5PSEN1, NCSTN, SHH, DSC1, DSG2, KRT14
6MP:00053978.5TNFRSF1B, PSEN1, NCSTN, SHH, CYP1A1, KRT8
7MP:00053878.2TNFRSF1B, PSEN1, NCSTN, SHH, DSC1, CYP1A1
8MP:00107688.1PTHLH, TNFRSF1B, PSEN1, PSENEN, NCSTN, SHH

Publications for Hidradenitis Suppurativa

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50PubMed
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Articles related to Hidradenitis Suppurativa:

(show top 50)    (show all 501)
idTitleAuthorsYear
1
Successful treatment of severe hidradenitis suppurativa with anakinra. (23966107)
2013
2
Absence of pathogenic I^-secretase mutations in a South Wales cohort of familial and sporadic hidradenitis suppurativa (acne inversa). (23013355)
2013
3
Morbidity after surgical treatment of hidradenitis suppurativa: reconstruction of severe genital lymphedema. (24069969)
2013
4
The Prevalence of Inverse Recurrent Suppuration - a Population-based Study of Possible Hidradenitis Suppurativa. (24329520)
2013
5
Impaired Notch signalling: the unifying mechanism explaining the pathogenesis of hidradenitis suppurativa (acne inversa). (23020871)
2013
6
Tumour necrosis factor-alpha and matrix metalloproteinase-2 are expressed strongly in hidradenitis suppurativa. (23096596)
2013
7
Hidradenitis suppurativa: A practical review of possible medical treatments based on over 350 hidradenitis patients. (24021361)
2013
8
Analysis of patient claims data to determine the prevalence of hidradenitis suppurativa in the United States. (22921795)
2013
9
Hidradenitis suppurativa: a case study. (24180021)
2013
10
Impact of Toll-like receptor-4 and tumour necrosis factor gene polymorphisms in patients with hidradenitis suppurativa. (23106544)
2013
11
Extended latissimus dorsi rotational V-Y advancement flap for the reconstruction of axillary defects after excision of hidradenitis suppurativa. (22374031)
2012
12
A review of wide surgical excision of hidradenitis suppurativa. (22734714)
2012
13
Management of recalcitrant hidradenitis suppurativa with ustekinumab. (22101775)
2012
14
Hidradenitis suppurativa involving the preauricular region: an unusual location. (22421673)
2012
15
Recalcitrant severe hidradenitis suppurativa successfully treated with cyclosporine A. (23158638)
2012
16
A study on the management of hidradenitis suppurativa with retinoids and surgical excision. (22345763)
2011
17
Hidradenitis suppurativa and pruritus ani. (22379408)
2011
18
Scrotal elephantiasis secondary to hidradenitis suppurativa. (21496708)
2011
19
Hyperbaric oxygen therapy for the management of postsurgical wounds in hidradenitis suppurativa. (21352679)
2010
20
Hidradenitis suppurativa. (20883920)
2010
21
Deroofing: a tissue-saving surgical technique for the treatment of mild to moderate hidradenitis suppurativa lesions. (20708472)
2010
22
Long-term efficacy of etanercept in hidradenitis suppurativa: results from an open-label phase II prospective trial. (19758320)
2010
23
The role of radiotherapy in the treatment of hidradenitis suppurativa: case report and review of the literature. (20178712)
2010
24
Surgical approach to extensive hidradenitis suppurativa in the perineal/perianal and gluteal regions. (19067039)
2009
25
Hidradenitis suppurativa. (19682181)
2009
26
Reconstruction of skin defects after resection of severe gluteal hidradenitis suppurativa with fasciocutaneous flaps. (18430623)
2009
27
Hidradenitis suppurativa sternalis: surgical treatment of this "no-touch zone." a 10-year follow-up. (18626330)
2008
28
The image of surgical infection: hidradenitis suppurativa and Ancylostoma braziliense. (18426356)
2008
29
Prevalence and factors associated with hidradenitis suppurativa: results from two case-control studies. (18674845)
2008
30
Surgical treatment of hidradenitis suppurativa with gentamicin sulfate: a prospective randomized study. (18093197)
2008
31
Long-term efficacy of a single course of infliximab in hidradenitis suppurativa. (18047504)
2008
32
BehAset's disease associated with hidradenitis suppurativa. (17309492)
2007
33
Three fatal cases of squamous cell carcinoma arising in chronic perineal hidradenitis suppurativa. (17959012)
2007
34
Surgical treatment of hidradenitis suppurativa: case series and review of the literature. (16984573)
2006
35
Lipid raft-enriched stem cell-like keratinocytes in the epidermis, hair follicles and sinus tracts in hidradenitis suppurativa. (15186322)
2004
36
Infliximab for the treatment of hidradenitis suppurativa. (14576652)
2003
37
Scanner-assisted carbon dioxide laser surgery: a retrospective follow-up study of patients with hidradenitis suppurativa. (12140476)
2002
38
Hidradenitis suppurativa and squamous cell carcinoma. (11991278)
2002
39
Perforator-based fasciocutaneous island flaps for the reconstruction of axillary defects following excision of hidradenitis suppurativa. (11987945)
2002
40
Hidradenitis suppurativa and Crohn's disease: response to treatment with infliximab. (11720323)
2001
41
No human leukocyte antigen-A, -B or -DR association in Swedish patients with hidradenitis suppurativa. (11411909)
2001
42
Negative-pressure dressings in the treatment of hidradenitis suppurativa. (11192034)
2001
43
The clinical genetics of hidradenitis suppurativa revisited. (10809853)
2000
44
Long-term results of isotretinoin in the treatment of 68 patients with hidradenitis suppurativa. (10495491)
1999
45
Forms of epithelial differentiation of draining sinus in acne inversa (hidradenitis suppurativa). (10468793)
1999
46
Topical clindamycin versus systemic tetracycline in the treatment of hidradenitis suppurativa. (9843011)
1998
47
Lithium therapy associated with hidradenitis suppurativa: case report and a review of the dermatologic side effects of lithium. (7829746)
1995
48
The pathogenesis of hidradenitis suppurativa: a closer look at apocrine and apoeccrine glands. (7547393)
1995
49
Dowling-Degos disease, hidradenitis suppurativa, and multiple keratoacanthomas. A disorder that may be caused by a single underlying defect in pilosebaceous epithelial proliferation. (2050858)
1991
50
Successful treatment of hidradenitis suppurativa with acitretin. (2971689)
1988

Genetic Variations for Hidradenitis Suppurativa

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Expression for genes affiliated with Hidradenitis Suppurativa

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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

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Sources:
53Reactome, 59Tocris Bioscience, 12EMD Millipore, 52R&D Systems, 51QIAGEN, 29KEGG, 37NCBI 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

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59Tocris Bioscience, 44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB
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Compounds related to Hidradenitis Suppurativa according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1l-685,4585910.5PSENEN, PSEN1
2mrk 5605910.5PSENEN, PSEN1
3jlk 65910.4PSEN1, PSENEN
4dapt5910.4PSEN1, PSENEN
5begacestat5910.4PSENEN, PSEN1
6estrogen4410.3TNFRSF1B, SRD5A1
7epitestosterone4410.2SHBG, SRD5A1
8enterolactone4410.1SRD5A1, SHBG
9hematoxylin4410.1KRT14, KRT10, KRT8, KRT1
10formestane4410.1SRD5A1, SHBG
11ment4410.1SRD5A1, SHBG
12toremifene44 1111.1CYP1A1, SHBG, TNFRSF1B
13dexamethasone44 49 28 1113.0TNFRSF1B, SHBG, CYP1A1
14flutamide44 59 1112.0SHBG, SRD5A1, CYP1A1
15androstenediol449.9SRD5A1, SHBG, HSD17B13
16sildenafil44 49 28 11 2413.9SRD5A1, CYP1A1, SHBG
17valine449.8PSEN1, KRT1, PTHLH, CYP1A1
18ketoconazole44 28 11 2412.8SRD5A1, CYP1A1, SHBG
19isotretinoin44 1110.8KRT1, KRT14, KRT10, SRD5A1, PTHLH
20bromodeoxyuridine449.7PTHLH, KRT8, KRT10, PSEN1, KRT14, KRT1
21dehydroepiandrosterone sulfate449.7HSD17B13, SHBG, SRD5A1
22progestin449.7SRD5A1, SHBG, HSD17B13, PTHLH
23dihydrotestosterone44 28 11 2412.6PIP, HSD17B13, SHBG, SRD5A1
24progestins449.6HSD17B13, PIP, SHBG, SRD5A1
25norepinephrine44 11 2411.6TNFRSF1B, PSEN1, SHBG, CYP1A1, PTHLH
26estrone44 28 11 2412.6HSD17B13, SHBG, CYP1A1, SRD5A1
27paraffin449.6KRT10, KRT8, PTHLH, KRT1, PIP, KRT14
28calcitriol44 59 11 2412.6PTHLH, SHBG, KRT10, SRD5A1
29norgestimate44 1110.6SRD5A1, SHBG
30retinoid449.6KRT10, KRT1, SHBG, KRT14, HSD17B13, KRT8
31dhea449.5HSD17B13, SRD5A1, SHBG
32lysine449.5KRT14, TNFRSF1B, PTHLH, KRT1, PSEN1, RNASE7
33androstenedione44 2410.4PIP, CYP1A1, SHBG, SRD5A1, HSD17B13
34vitamin d449.4KRT14, KRT10, TNFRSF1B, PTHLH, SRD5A1, SHBG
35glucose449.3PSEN1, TNFRSF1B, KRT14, HSD17B13, KRT8, PTHLH
36lactate449.3KRT8, PTHLH, HSD17B13, SHBG, CYP1A1
37threonine449.2KRT1, PSEN1, TNFRSF1B, KRT14, KRT10, KRT8
38cisplatin44 49 59 1112.2PTHLH, KRT8, KRT14, CYP1A1, TNFRSF1B
39cholesterol44 28 11 2412.2PSEN1, HSD17B13, PSENEN, NCSTN, SHH, SHBG
40arginine449.2PTHLH, TNFRSF1B, SHBG, CYP1A1, KRT1, KRT14
41estradiol44 11 2411.1CYP1A1, SRD5A1, PTHLH, PIP, SHBG, HSD17B13
42tamoxifen44 49 28 1111.9TNFRSF1B, PIP, SHBG, CYP1A1, KRT14, KRT8
43tyrosine448.8KRT8, PTHLH, KRT14, KRT10, PSEN1, DSG2
44lipid448.7NCSTN, KRT1, KRT8, TNFRSF1B, HSD17B13, PTHLH
45serine448.6HSD17B13, CYP1A1, TNFRSF1B, PTHLH, NOD2, KRT8
46steroid448.6KRT8, HSD17B13, TNFRSF1B, PIP, SHBG, KRT1
47calcium44 49 11 2411.5TNFRSF1B, DSC1, DSG2, DSC2, KRT8, KRT1
48testosterone44 59 11 2411.5HSD17B13, PTHLH, SRD5A1, KRT8, KRT1, SHBG
49progesterone44 59 28 11 2412.4KRT10, SHBG, CYP1A1, KRT1, PIP, HSD17B13
50retinoic acid44 249.3KRT14, TNFRSF1B, PTHLH, SRD5A1, KRT8, KRT10

GO Terms for genes affiliated with Hidradenitis Suppurativa

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16Gene Ontology
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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet