MCID: HDR002
MIFTS: 57

Hidradenitis Suppurativa malady

Skin diseases, Genetic diseases categories

Summaries for Hidradenitis Suppurativa

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 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 mrk 560 and jlk 6 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.

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: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.

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:

Search ClinicalTrials for Hidradenitis Suppurativa

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
Treatment of moderate to severe hidradenitis suppurativa. (23817709)
2013
2
I^-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis. (23096707)
2013
3
Diagnosis and management of hidradenitis suppurativa. (23613539)
2013
4
Finasteride for the treatment of hidradenitis suppurativa in children and adolescents. (23552442)
2013
5
Depression in patients with hidradenitis suppurativa. (22339940)
2013
6
Severe hidradenitis suppurativa treatment using platelet-rich plasma gel and Hyalomatrix. (23834343)
2013
7
Alterations in leucocyte subsets and histomorphology in normal-appearing perilesional skin and early and chronic hidradenitis suppurativa lesions. (21929531)
2012
8
Comparing treatment outcome of infliximab and adalimumab in patients with severe hidradenitis suppurativa. (21756155)
2012
9
Rapid progression of hidradenitis suppurativa in the lower leg of a patient with psoriasis vulgaris. (21879239)
2012
10
Use of lasers for the management of refractory cases of hidradenitis suppurativa and pilonidal sinus. (23112515)
2012
11
Hidradenitis suppurativa, eruptive melanocytic nevi, and keratosis pilaris-like eruption in a patient treated with vemurafenib. (23247496)
2012
12
Hereditary hidradenitis suppurativa restricted to the auricular region. (23217949)
2012
13
Hidradenitis suppurativa in a HIV-infected child. (23023355)
2012
14
Hidradenitis suppurativa: a disease of the absent sebaceous gland? Sebaceous gland number and volume are significantly reduced in uninvolved hair follicles from patients with hidradenitis suppurativa. (21250966)
2011
15
Hidradenitis suppurativa: a painful and debilitating condition. (21217374)
2010
16
Hidradenitis suppurativa and inflammatory bowel disease: are they associated? Results of a pilot study. (19681876)
2010
17
Etanercept for the treatment of hidradenitis suppurativa. (19197548)
2009
18
Randomized control trial for the treatment of hidradenitis suppurativa with a neodymium-doped yttrium aluminium garnet laser. (19438670)
2009
19
Efficacy of adalimumab in recalcitrant hidradenitis suppurativa. (19153066)
2009
20
Hidradenitis suppurativa and associated factors: still unsolved problems. (19615551)
2009
21
The effect of combined treatment with oral clindamycin and oral rifampicin in patients with hidradenitis suppurativa. (19590174)
2009
22
Methyl aminolaevulinate photodynamic therapy for the treatment of hidradenitis suppurativa and pilonidal cysts. (19438999)
2009
23
Hidradenitis suppurativa complicated by squamous cell carcinoma. (19097532)
2008
24
Quality of life impairment in hidradenitis suppurativa: a study of 61 cases. (17097366)
2007
25
A hidradenitis suppurativa related SAPHO case associated with features resembling spondylarthropathy and proteinuria. (16680392)
2007
26
Infliximab for severe hidradenitis suppurativa: transient clinical efficacy in 7 consecutive patients. (17240478)
2007
27
Hidradenitis suppurativa is acne inversa. (17343599)
2007
28
Chronic hidradenitis suppurativa and perianal mucinous adenocarcinoma. A case report. (17393769)
2007
29
Lack of association between CARD15 gene polymorphisms and hidradenitis suppurativa: a pilot study. (17911997)
2007
30
Treatment of hidradenitis suppurativa with infliximab in a patient with Crohn's disease. (15897171)
2005
31
Pyoderma gangrenosum associated with hidradenitis suppurativa. (16197385)
2005
32
Surgical management of hidradenitis suppurativa of the nipple-areolar complex. (14745277)
2004
33
Smoothbeam laser treatment may help improve hidradenitis suppurativa but not Hailey-Hailey disease. (15545102)
2004
34
Unusual presentation of hidradenitis suppurativa with massive enlargement of penis. (15302508)
2004
35
Infliximab for hidradenitis suppurativa. (14632813)
2003
36
Acne inversa (alias hidradenitis suppurativa). (11843212)
2001
37
Reflex sympathetic dystrophy with hidradenitis suppurativa exacerbation: a case report. (11245766)
2001
38
Prepubertal hidradenitis suppurativa: two case reports and review of the literature. (10469415)
1999
39
Anorectal miscellany: pilonidal disease, anal cancer, Bowen's and Paget's diseases, foreign bodies, and hidradenitis suppurativa. (9922300)
1999
40
Is this hidradenitis suppurativa or psoriasis? (19078416)
1999
41
Pathogenesis, clinical features and management of hidradenitis suppurativa. (9244085)
1997
42
The prevalence of hidradenitis suppurativa and its potential precursor lesions. (8708018)
1996
43
The bacteriology of hidradenitis suppurativa. (8944341)
1996
44
Crohn's disease in association with hidradenitis suppurativa. (1610696)
1992
45
Squamous cell carcinoma arising in hidradenitis suppurativa. (1918590)
1991
46
Mammographic features of hidradenitis suppurativa axillaris. (2354392)
1990
47
Squamous cell carcinoma complicating hidradenitis suppurativa. (2095185)
1990
48
Urethral fistula and sinus formation in hidradenitis suppurativa. (2598491)
1989
49
Hidradenitis suppurativa of the anogenital region: response to isotretinoin. (3422131)
1988
50
Effect of localized surgical excisions in hidradenitis suppurativa. (3385029)
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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Sources:
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
1mrk 5605910.5PSEN1, PSENEN
2jlk 65910.5PSEN1, PSENEN
3begacestat5910.4PSEN1, PSENEN
4l-685,4585910.4PSEN1, PSENEN
5dapt5910.4PSEN1, PSENEN
6estrogen4410.3TNFRSF1B, SRD5A1
7epitestosterone4410.2SHBG, SRD5A1
8enterolactone4410.1SRD5A1, SHBG
9hematoxylin4410.1KRT1, KRT14, KRT10, KRT8
10formestane4410.1SRD5A1, SHBG
11ment4410.1SRD5A1, SHBG
12toremifene44 1111.1CYP1A1, SHBG, TNFRSF1B
13dexamethasone44 49 28 1113.0TNFRSF1B, SHBG, CYP1A1
14flutamide44 59 1112.0SHBG, CYP1A1, SRD5A1
15androstenediol449.9HSD17B13, SHBG, SRD5A1
16sildenafil44 49 28 11 2413.9SHBG, CYP1A1, SRD5A1
17valine449.8PSEN1, CYP1A1, KRT1, PTHLH
18ketoconazole44 28 11 2412.8SHBG, CYP1A1, SRD5A1
19isotretinoin44 1110.8KRT1, KRT14, KRT10, SRD5A1, PTHLH
20bromodeoxyuridine449.7PSEN1, KRT1, KRT14, KRT10, KRT8, PTHLH
21dehydroepiandrosterone sulfate449.7HSD17B13, SHBG, SRD5A1
22progestin449.7HSD17B13, SHBG, SRD5A1, PTHLH
23dihydrotestosterone44 28 11 2412.6HSD17B13, PIP, SHBG, SRD5A1
24progestins449.6HSD17B13, PIP, SHBG, SRD5A1
25norepinephrine44 11 2411.6PTHLH, CYP1A1, SHBG, PSEN1, TNFRSF1B
26estrone44 28 11 2412.6HSD17B13, SHBG, CYP1A1, SRD5A1
27paraffin449.6PIP, KRT1, KRT14, KRT10, KRT8, PTHLH
28calcitriol44 59 11 2412.6PTHLH, SRD5A1, KRT10, SHBG
29norgestimate44 1110.6SRD5A1, SHBG
30retinoid449.6HSD17B13, SHBG, KRT1, KRT14, KRT10, KRT8
31dhea449.5SRD5A1, SHBG, HSD17B13
32lysine449.5TNFRSF1B, PSEN1, RNASE7, KRT1, KRT14, PTHLH
33androstenedione44 2410.4HSD17B13, PIP, SHBG, CYP1A1, SRD5A1
34vitamin d449.4TNFRSF1B, SHBG, KRT14, KRT10, SRD5A1, PTHLH
35glucose449.3PTHLH, KRT8, KRT14, PSEN1, TNFRSF1B, HSD17B13
36lactate449.3HSD17B13, SHBG, CYP1A1, KRT8, PTHLH
37threonine449.2TNFRSF1B, PSEN1, KRT1, KRT14, KRT10, KRT8
38cisplatin44 49 59 1112.2TNFRSF1B, CYP1A1, KRT14, KRT8, PTHLH
39cholesterol44 28 11 2412.2HSD17B13, TNFRSF1B, PSEN1, PSENEN, NCSTN, SHH
40arginine449.2TNFRSF1B, PSEN1, SHBG, CYP1A1, KRT1, KRT14
41estradiol44 11 2411.1HSD17B13, PIP, SHBG, CYP1A1, SRD5A1, PTHLH
42tamoxifen44 49 28 1111.9HSD17B13, TNFRSF1B, PIP, SHBG, CYP1A1, KRT14
43tyrosine448.8TNFRSF1B, PSEN1, DSG2, KRT1, KRT14, KRT10
44lipid448.7HSD17B13, TNFRSF1B, PSEN1, PSENEN, NCSTN, SHBG
45serine448.6HSD17B13, TNFRSF1B, PSEN1, CYP1A1, KRT1, KRT14
46steroid448.6HSD17B13, TNFRSF1B, PIP, SHBG, KRT1, KRT10
47calcium44 49 11 2411.5TNFRSF1B, PSEN1, DSC1, DSC2, DSG2, KRT1
48testosterone44 59 11 2411.5HSD17B13, TNFRSF1B, PIP, SHBG, CYP1A1, KRT1
49progesterone44 59 28 11 2412.4PTHLH, HSD17B13, PIP, SHBG, CYP1A1, KRT1
50retinoic acid44 249.3TNFRSF1B, PSEN1, SHBG, DSC1, CYP1A1, KRT1

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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  • Antibodies
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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