MCID: SKN016
MIFTS: 67

Skin Disease

Categories: Skin diseases
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Aliases & Classifications for Skin Disease

Summaries for Skin Disease

Disease Ontology: 11 An integumentary system disease that is located in skin.

MalaCards based summary: Skin Disease, also known as skin diseases, is related to bullous skin disease and bullous pemphigoid, and has symptoms including dry skin, pruritus and enanthema. An important gene associated with Skin Disease is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are Collagen chain trimerization and Cell junction organization. The drugs Fexofenadine and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and t cells, and related phenotypes are growth/size/body region and craniofacial

Related Diseases for Skin Disease

Diseases related to Skin Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1307)
# Related Disease Score Top Affiliating Genes
1 bullous skin disease 33.3 PLEC LAMC2 LAMB3 KRT14 ITGB4 DSG3
2 bullous pemphigoid 33.0 PLEC LAMC2 LAMB3 KRT14 ITGB4 DSG3
3 peeling skin syndrome 33.0 TGM1 FLG DSG1
4 epidermolysis bullosa 32.9 PLEC LAMC2 LAMB3 KRT17 KRT14 ITGB4
5 psoriasis 32.8 TGM1 MIR203A KRT17 KRT14 FLG
6 neurotic excoriation 32.6 COL7A1 COL17A1
7 ichthyosis 32.6 TGM1 KRT17 FLG-AS1 FLG COL7A1 ABCA12
8 epidermolytic hyperkeratosis 32.6 TGM1 PLEC KRT17 KRT14 FLG COL7A1
9 keratosis 32.5 TGM1 KRT17 KRT14 FLG DSG1
10 cicatricial pemphigoid 32.4 LAMC2 ITGB4 DSG3 DSG1 COL17A1
11 pemphigus 32.4 DSG3 DSG1 COL17A1
12 pemphigoid gestationis 32.4 DSG3 DSG1 COL17A1
13 epidermolysis bullosa simplex 5c, with pyloric atresia 32.4 PLEC ITGB4
14 epidermolysis bullosa, junctional 1a, intermediate 32.4 LAMC2 LAMB3 ITGB4 COL17A1
15 epidermolysis bullosa acquisita 32.3 LAMC2 ITGB4 COL7A1 COL17A1
16 kindler syndrome 32.3 PLEC LAMB3 ITGB4 COL7A1 COL17A1
17 subcorneal pustular dermatosis 32.3 DSG3 DSG1
18 pemphigus vulgaris, familial 32.3 DSG3 DSG1 COL17A1
19 paraneoplastic pemphigus 32.3 PLEC DSG3 DSG1 COL17A1
20 netherton syndrome 32.2 TGM1 FLG DSG1
21 iga pemphigus 32.1 DSG3 DSG1 COL17A1
22 epidermolysis bullosa, junctional 4, intermediate 32.1 LAMB3 COL17A1
23 keratosis follicularis spinulosa decalvans, autosomal dominant 32.1 TGM1 KRT14
24 sebaceous gland disease 32.1 NCSTN KRT17 FLG
25 familial woolly hair syndrome 32.1 PLEC DSG3 DSG1
26 pemphigoid 32.0 PLEC LAMB3 ITGB4 DSG3 DSG1 COL17A1
27 lichen planus 31.7 LAMC2 FLG DSG3 DSG1 COL17A1
28 alopecia 31.6 KRT14 FLG COL17A1
29 hidradenitis 31.4 NCSTN DSG3 DSG1
30 basal cell carcinoma 31.4 TYR LAMC2 KRT17 KRT14 ITGB4 COL17A1
31 keratoacanthoma 31.4 KRT17 KRT14 FLG DSG3 DSG1
32 scabies 31.3 FLG COL17A1
33 junctional epidermolysis bullosa 31.3 PLEC LAMC2 LAMB3 KRT14 ITGB4 COL7A1
34 epidermolysis bullosa dystrophica 31.3 PLEC LAMC2 LAMB3 KRT14 ITGB4 FLG
35 ichthyosis vulgaris 31.2 TGM1 KRT14 FLG-AS1 FLG DSG1 ABCA12
36 dermatitis, atopic, 2 31.2 FLG-AS1 FLG
37 epidermolysis bullosa simplex 31.2 PLEC KRT17 KRT14 ITGB4 FLG COL7A1
38 autosomal recessive congenital ichthyosis 31.2 TGM1 KRT14 FLG DSG1 ABCA12
39 pachyonychia congenita 1 31.1 TGM1 PLEC KRT17 KRT14 FLG DSG1
40 recessive dystrophic epidermolysis bullosa 31.0 PLEC LAMB3 KRT14 COL7A1 COL17A1
41 palmoplantar keratoderma, epidermolytic 31.0 PLEC KRT17 KRT14 COL7A1
42 junctional epidermolysis bullosa non-herlitz type 30.9 PLEC LAMC2 LAMB3 KRT14 ITGB4 COL7A1
43 tinea corporis 30.9 FLG DSG3
44 epidermolysis bullosa, junctional 5b, with pyloric atresia 30.8 PLEC LAMC2 LAMB3 KRT14 ITGB4 COL7A1
45 palmoplantar keratoderma, nonepidermolytic 30.8 KRT17 DSG3 DSG1
46 skin benign neoplasm 30.8 TYR NF1 KRT14
47 ectropion 30.8 TGM1 NF1 ABCA12
48 ichthyosis, congenital, autosomal recessive 4b 30.7 TGM1 FLG ABCA12
49 ritter's disease 30.6 DSG3 DSG1
50 ichthyosis, congenital, autosomal recessive 1 30.6 TGM1 ABCA12

Graphical network of the top 20 diseases related to Skin Disease:



Diseases related to Skin Disease

Symptoms & Phenotypes for Skin Disease

UMLS symptoms related to Skin Disease:


dry skin; pruritus; enanthema; exanthema; skin manifestations; nasal itching

MGI Mouse Phenotypes related to Skin Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ABCA12 COL17A1 COL7A1 DSG3 ITGB4 KRT14
2 craniofacial MP:0005382 10.06 ABCA12 COL7A1 DSG3 ITGB4 KRT14 KRT17
3 cellular MP:0005384 10.03 ABCA12 CLCN6 COL17A1 DSG3 ITGB4 KRT14
4 digestive/alimentary MP:0005381 9.97 COL7A1 DSG3 ITGB4 KRT14 KRT17 LAMB3
5 hearing/vestibular/ear MP:0005377 9.91 ABCA12 ITGB4 KRT14 LAMC2 NF1 TYR
6 pigmentation MP:0001186 9.85 COL17A1 KRT14 KRT17 NF1 TYR
7 mortality/aging MP:0010768 9.8 ABCA12 COL17A1 COL7A1 DSG3 ITGB4 KRT14
8 respiratory system MP:0005388 9.7 ABCA12 DSG3 ITGB4 KRT14 LAMB3 LAMC2
9 integument MP:0010771 9.55 ABCA12 CLCN6 COL17A1 COL7A1 DSG1 DSG3

Drugs & Therapeutics for Skin Disease

Drugs for Skin Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 372)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fexofenadine Approved, Investigational Phase 4 83799-24-0 3348
2
Fluorouracil Approved Phase 4 51-21-8 3385
3
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 2791 5311051 32798
4
Petrolatum Approved, Investigational Phase 4 8009-03-8
5
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
6
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
7
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
8
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
9
Clindamycin Approved, Vet_approved Phase 4 18323-44-9, 24729-96-2 29029
10
Simethicone Approved Phase 4 8050-81-5
11
Povidone-iodine Approved Phase 4 25655-41-8
12
Iodine Approved, Investigational Phase 4 7553-56-2 807
13
Povidone K30 Approved, Experimental, Withdrawn Phase 4 9003-39-8 6917 131751496
14
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 10909430
15
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
16
Clavulanic acid Approved, Vet_approved Phase 4 58001-44-8 5280980
17
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
18
Sultamicillin Approved, Investigational Phase 4 76497-13-7 2175
19
Sulbactam Approved Phase 4 68373-14-8 5316
20
Oritavancin Approved, Investigational Phase 4 171099-57-3 16136912
21
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
22
Fluticasone Approved, Experimental Phase 4 90566-53-3 4659387 5311101
23
Propranolol Approved, Investigational Phase 4 318-98-9, 525-66-6 62882 4946
24
Polihexanide Approved, Investigational Phase 4 28757-47-3 20977
25
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
26
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
27
Polidocanol Approved Phase 4 9002-92-0 78933
28
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
29
Hyaluronidase Approved Phase 4 525-79-1, 9001-54-1 3830
30
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
31
Retapamulin Approved Phase 4 224452-66-8 6918462
32
Amorolfine Approved, Investigational Phase 4 78613-35-1
33
Carbamide peroxide Approved Phase 4 124-43-6
34
Bifonazole Approved, Investigational Phase 4 60628-96-8 2378
35
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
36
Warfarin Approved Phase 4 81-81-2, 129-06-6 54678486
37
Cantharidin Approved, Investigational Phase 4 56-25-7 2545
38
Calcipotriol Approved Phase 4 112965-21-6 5288783
39
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
40
Copper Approved, Investigational Phase 4 7440-50-8 27099
41
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 4 55-56-1 2713 9552079
42
Zinc cation Approved, Experimental, Investigational Phase 4 7440-66-6, 23713-49-7 32051
43
Zinc oxide Approved Phase 4 1314-13-2
44
Meticillin Approved, Investigational Phase 4 61-32-5 6087
45
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
46
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
47
Dalbavancin Approved, Investigational Phase 4 171500-79-1 16134627
48
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
49
Nafcillin Approved, Investigational Phase 4 985-16-0, 147-52-4 8982
50
Cloxacillin Approved, Investigational, Vet_approved Phase 4 61-72-3 6098

Interventional clinical trials:

(show top 50) (show all 453)
# Name Status NCT ID Phase Drugs
1 A Phase IV, Randomised, Multicentre, Double-blind, Study to Evaluate the Clinical Utility of Prospective Genetic Screening (HLA-B*1301) for Susceptibility to Dapsone Hypersensitivity Syndrome Unknown status NCT02550080 Phase 4 Dapsone
2 The Use of Botulinum Toxin-A in Two-stage Tissue Expander/Implant Breast Reconstruction: A Prospective, Randomized, Double-Blind Placebo Controlled Trial Unknown status NCT01427400 Phase 4 Botulinum Toxin-A;Saline
3 Patient-Centered Comparative Effectiveness Research (CER) Study of Home-based Interventions to Prevent CA-MRSA Infection Recurrence Unknown status NCT02566928 Phase 4 2% mupirocin ointment
4 The Effect of Anti-bacterial Honey Dressing on the Healing of Split Thickness Skin Graft Donor Site Unknown status NCT02400372 Phase 4
5 The Evaluation of Efficacy and Safety of Fexofenadine 180mg Tablets for 7 Days in the Treatment of Pruritic Skin Disease Completed NCT00261079 Phase 4 Fexofenadine
6 A Double Blinded Randomized Controlled Trial for the Management of Pediatric Community Acquired Skin Abscesses - To Treat or Not to Treat With Antibiotics Completed NCT00679302 Phase 4 Trimethoprim-sulfamethoxazole;Placebo group
7 Randomized Clinical Trial of Wound Packing Following Incision and Drainage of Superficial Skin Abscesses in the Pediatric Emergency Department Completed NCT00746109 Phase 4
8 Clinical and Economic Outcomes of Ceftaroline Fosamil for the Treatment of Acute Bacterial Skin and Skin Structure Infections Documented or at Risk of Methicillin-Resistant S. Aureus Completed NCT02582203 Phase 4 Ceftaroline;Vancomycin
9 A Multicenter, Open Label Study to Evaluate the Safety and Efficacy of Tigecycline to Treat Complicated Skin and Skin Structure Infections (cSSSI) in Hospitalized Patients Completed NCT00488761 Phase 4 Tigecycline
10 Skin and Soft Tissue Infection (SSTI) Study Completed NCT02600871 Phase 4 Provodine
11 An Evaluation of the Safety, Efficacy and Pharmacokinetics of Daptomycin in Pediatric Subjects Aged One to Seventeen Years With Complicated Skin and Skin Structure Infections Caused by Gram-Positive Pathogens Completed NCT00711802 Phase 4 Daptomycin;Standard of Care (SOC)
12 An Open, Non-comparative Study to Evaluate the Efficacy and Safety of AUGMENTIN 1gm (875mg Amoxicillin/125mg Clavulanic Acid) po q 12 Hours in the Treatment of Uncomplicated Skin and Soft Tissue Infections in Pakistan Completed NCT00343135 Phase 4 amoxicillin/clavulanate potassium 1gm
13 A Multicenter, Randomized, Open-Label Comparison of the Safety And Efficacy of Tigecycline With That of Ampicillin-Sulbactam or Amoxicillin-Clavulanate to Treat Complicated Skin And Skin Structure Infections Completed NCT00368537 Phase 4 Tigecycline;ampicillin-sulbactam
14 Effect of Chlorhexidine Skin Cleansing on Skin Flora of Newborn Infants in Bangladesh Completed NCT00198679 Phase 4 Chlorhexidine
15 A Double-Blind, Randomized Study to Evaluate the Safety of Either a Single 1200-mg Intravenous (IV) Dose of Orbactiv™ (Oritavancin) and Placebo or Two IV Doses of Orbactiv™ in Subjects Being Treated for Acute Bacterial Skin and Skin Structure Infection (ABSSSI) Completed NCT02925416 Phase 4 oritavancin;placebo (D5W)
16 Fase IV Clinical Trial to Evaluate Chondroitin Sulphate Efficacy and Safety in Patients With Knee Osteoarthritis and Psoriasis Completed NCT00669123 Phase 4 Chondroitin sulphate;Placebo
17 CSP #562 - The VA Keratinocyte Carcinoma Chemoprevention Trial Completed NCT00847912 Phase 4 5-fluorouracil;Placebo, vehicle control
18 A Randomized, Double-blinded Study to Evaluate the Ability of an Acne Treatment Product to Produce Visible Improvements in Acne Lesions Over a 5 Day Period of Once-daily Use Completed NCT02052752 Phase 4 3% Benzoyl Peroxide;3% Benzoyl Peroxide Placebo;Neutrogena Rapid Clear®
19 A Randomized, Open-label, Comparative Study to Evaluate an Intermittent Dosing Regimen of Fluticasone Propionate 0.05% Cream (Twice Per Week) in Reducing the Risk of Relapse When Added to Regular Daily Moisturization Using PHYSIOGEL Lotion in Paediatric Subjects With Stabilized Atopic Dermatitis Completed NCT01915914 Phase 4 Fluticasone propionate
20 Topical Emollient Therapy for Prevention of Infections in Preterm Infants Completed NCT00162747 Phase 4 Aquaphor;Sunflower Seed Oil
21 Surgical Hand Antisepsis With Propan-ol-1 60% Per Rubbing and Scrubbing in Accordance With European Norm Regulation 12791 Completed NCT04446923 Phase 4 Hand antisepsis by scrub
22 Efficacy of Intraoperative Surgical Scrubbing in Reducing Bacterial Load After Nail Removal Surgery Completed NCT01330706 Phase 4 Polihexanide
23 Monocentric, Randomized, Subject and Rater Blinded Clinical Investigation to Prove the Non-inferiority of Belotero® Basic Versus Juvéderm® Ultra 3 Containing Lidocaine - After Single Injection for Correction of Nasolabial Folds (NLF) Completed NCT01305187 Phase 4
24 A Single Arm, Phase IV, Open-Label, Split-Face Trial to Evaluate the Efficacy and Safety of Kinetin, N6-furfuryladenine, 0.1% for Treatment of Cutaneous Photoaging Completed NCT01898182 Phase 4
25 The Use of Medical Grade Honey in the Prevention of Bone Anchored Hearing Aid Associated Skin Breakdown Completed NCT03929224 Phase 4 Medicinal honey;Bacitracin
26 A Two-week Crossover Evaluation of Two Hand Antiseptic Products on Skin Condition in Healthy Human Subjects Completed NCT00731042 Phase 4 Avagard;Purell Surgical Scrub
27 A Pragmatic Trial Designed to Evaluate a New Critical Pathway for Treatment of Patients With Acute Bacterial Skin and Skin Structure Infections Completed NCT02961764 Phase 4 Usual Care;Dalbavancin
28 Subject Adherence and Satisfaction for Treatment of Onychomycosis With Loceryl Nail Lacquer 5% Versus a Fungal Nail Treatment Set Containing Urea 40% Ointment and Bifonazole Cream 1% Completed NCT02705664 Phase 4 Loceryl Nail Lacquer;Urea Ointment;Bifonazole Cream
29 Subject Adherence and Satisfaction for Treatment of Onychomycosis With Loceryl Nail Lacquer 5% Versus Ciclopirox Nail Lacquer Completed NCT02679911 Phase 4 Loceryl NL;Ciclopirox NL
30 An Open Label Study to Evaluate Safety, Efficacy and Tolerability of Clobetasol Propionate for the Condition of Chronic Hand Dermatitis Completed NCT00828464 Phase 4 clobetasol propionate
31 An Open-Label, Non-Comparative Study to Assess the Pharmacokinetics, Safety and Efficacy of Topical Retapamulin (SB-275833) Ointment, 1%, Twice Daily for Five Days in the Treatment of Uncomplicated Skin and Skin Structure Infections in Pediatric Subjects Aged 2 to 24 Months Completed NCT00555061 Phase 4 Retapamulin Ointment, 1%
32 Determination of Antifungal Activity of Loceryl Nail Lacquer 5% When Used Concomitantly With a Cosmetic Nail Varnish Compared to a Loceryl Nail Lacquer (NL) 5% Alone in Treatment of Toenail Distal Subungual Onychomycosis Completed NCT02321098 Phase 4 Loceryl NL + Cosmetic varnish;Loceryl NL 12 weeks;Loceryl NL 15 months
33 An Open-Label Study to Evaluate the Safety of a Single 1200 mg IV Dose of Orbactiv (Oritavancin) in Subjects on Concomitant Chronic Warfarin Therapy Being Treated For Acute Bacterial Skin and Skin Structure Infection (ABSSSI) Completed NCT02452918 Phase 4 Oritavancin
34 Comparison of Cephalexin Versus Clindamycin in the Empiric, Outpatient Treatment of Suspected Staphylococcal Cutaneous Infections in the Era of Community-associated Methicillin-resistant Staphylococcus Aureus (CA-MRSA) Completed NCT00352612 Phase 4 clindamycin;cephalexin
35 Development of a New Critical Pathway for Treatment of Acute Bacterial Skin and Skin Structure Infections Completed NCT03233438 Phase 4 Dalbavancin;Usual Care
36 Phase 4 Study of Assessment of Needs of Moisturizers After Various Laser Treatment Completed NCT01742247 Phase 4
37 Evaluation of Daptomycin for the Emergency Department Treatment of Complicated Skin and Skin Structure Infections Completed NCT01549613 Phase 4 Daptomycin;Vancomycin
38 A Randomized Study to Evaluate Comparative Effectiveness, Inpatient Resource Utilization, and Cost of Daptomycin vs. Vancomycin in the Treatment of Patients With Complicated Skin and Skin Structure Infections Due to Suspected or Documented Methicillin-resistant Staphylococcus Aureus (MRSA) Completed NCT01419184 Phase 4 Daptomycin;Vancomycin
39 A Randomized Trial to Evaluate a Staphylococcus Eradication Protocol for Patients Who Present to the Emergency Department With Cutaneous Abscess Completed NCT01537783 Phase 4 Chlorhexidine gluconate;Mupirocin
40 Combination Treatment With Xeomin, Radiesse, and Belotero for Improvement in Photoaging and Skin Quality Completed NCT05039723 Phase 4 Radiesse, Xeomin, Belotero
41 Predicting Inflammatory Skin Disease Response to IL-23 Blockade Recruiting NCT04541329 Phase 4
42 An Investigator-Initiated, Phase 4, Open-Label, Single-Arm, Single-Center Study Investigating the Residual Disease Memory in Psoriasis Skin During Enstilar® and Narrow-Band Ultraviolet B Therapy: The Mempsolar Study Recruiting NCT05185258 Phase 4 Enstilar;Placebo-vehicle
43 Immunogenicity and Reactogenicity of Fractionated-dose Intradermal vs Standard Intramuscular Tozinameran as the Fourth Coronavirus Disease 2019 (COVID-19) Vaccine Dose in Patients With Immune-mediated Dermatologic Diseases: a Single-blinded Randomised-controlled Parallel-grouped Non-inferiority Trial Recruiting NCT05406908 Phase 4
44 A Randomized Controlled Trial for Conservative Management of Cutaneous Abscess Using Topical Anesthetic in Children as Compared to Standard Management Recruiting NCT05461053 Phase 4 LMX 4 Topical Cream
45 Using a Cold Atmospheric Plasma Device to Treat Molluscum Contagiosum and Verruca Vulgaris in Pediatric Patients Recruiting NCT05070754 Phase 4 Canthardin Collodion
46 A Study of Efficacy of Chlorhexidine Scrub, ZnO Nanoparticles Socks and the Combination of Chlorhexidine Scrub and ZnO Nanoparticles Socks for Treatment of Pitted Keratolysis Not yet recruiting NCT04332796 Phase 4 Chorhexidine scrub
47 A Study of Efficacy of Chlorhexidine Scrub, ZnO Nanoparticles Socks and the Combination of Chlorhexidine Scrub and ZnO Nanoparticles Socks for Prevention of Pitted Keratolysis Not yet recruiting NCT04337749 Phase 4 Chorhexidine scrub
48 Double-blind Evaluation of the Safety and Efficacy of Quadriderme® (Betamethasone Diproprionate, Clotrimazole and Gentamicin) Compared With Betamethasone Diproprionate Combined With Gentamicin Sulfate and With Betamethasone Diproprionate in the Treatment of Impetiginous Eczema Terminated NCT00671528 Phase 4 Cream (betamethasone diproprionate, clotrimazole, and gentamicin sulfate);Cream (betamethasone diproprionate and gentamicin);Cream (betamethasone diproprionate)
49 A Multicentre, Open Label, Uncontrolled Clinical Trial to Evaluate Efficacy and Safety of Daptomycin for the Treatment of Complicated Skin and Skin-Structure Infections (cSSTI) Caused by Methicillin-resistant Staphylococcus Aureus (MRSA) Terminated NCT00463801 Phase 4 Daptomycin
50 An Open Label Phase 4 Trial to Further Evaluate the Pharmacokinetic Profile of Intravenous Daptomycin, and a Comparison of the Safety and Efficacy of Daptomycin Versus Comparator in the Treatment of Adult Patients With Renal Impairment and Complicated Skin and Skin Structure Infections Due, at Least in Part, to Gram-positive Bacteria Terminated NCT00102947 Phase 4 daptomycin (up to 14 days)

Search NIH Clinical Center for Skin Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :


alitretinoin
Botulinum Toxin Type A
Gotu Kola Extract
GOTU KOLA LIQUID
Menthol
MENTHOL CRYSTALS
prednisolone
prednisolone acetate
PREDNISOLONE ACETATE PWDR
PREDNISOLONE PWDR
Prednisolone sodium phosphate
prednisolone tebutate
Prednisone
PREDNISONE PWDR

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Skin Disease cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: skin diseases

Genetic Tests for Skin Disease

Genetic tests related to Skin Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Skin 28

Anatomical Context for Skin Disease

Organs/tissues related to Skin Disease:

FMA: Skin
MalaCards : Skin, Bone Marrow, T Cells, Breast, Neutrophil, Bone, Pituitary

Publications for Skin Disease

Articles related to Skin Disease:

(show top 50) (show all 28943)
# Title Authors PMID Year
1
Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma. 53 62
20236940 2010
2
Complex gene-chemical interactions: hepatic uroporphyria as a paradigm. 53 62
20099833 2010
3
MAP17 is associated with the T-helper cell cytokine-induced down-regulation of filaggrin transcription in human keratinocytes. 53 62
19601982 2010
4
Neurotrophins in healthy and diseased skin. 53 62
20467394 2010
5
[Production of interleukin-8 by circulating CLA+ T cells with skin tropism in patients with psoriasis and in healthy controls]. 53 62
20223157 2010
6
Tumor necrosis factor alpha blockade exacerbates murine psoriasis-like disease by enhancing Th17 function and decreasing expansion of Treg cells. 53 62
20112373 2010
7
EKV mutant connexin 31 associated cell death is mediated by ER stress. 53 62
19755382 2009
8
Th22 cells represent a distinct human T cell subset involved in epidermal immunity and remodeling. 53 62
19920355 2009
9
Connexin-26 mutations in deafness and skin disease. 53 62
19939300 2009
10
Adverse cutaneous reactions induced by TNF-alpha antagonist therapy. 53 62
19864977 2009
11
Differential expression of phosphorylated extracellular signal-regulated kinase 1/2, phosphorylated p38 mitogen-activated protein kinase and nuclear factor-kappaB p105/p50 in chronic inflammatory skin diseases. 53 62
19785707 2009
12
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison. 53 62
19814614 2009
13
Anti-desmoglein 1 antibodies in healthy related and unrelated subjects and patients with pemphigus foliaceus in endemic and non-endemic areas from Tunisia. 53 62
19453789 2009
14
Reddish, scaly, and itchy: how proteases and their inhibitors contribute to inflammatory skin diseases. 53 62
19688185 2009
15
Suppression of thymus- and activation-regulated chemokine (TARC/CCL17) production by 1,2,3,4,6-penta-O-galloyl-beta-D-glucose via blockade of NF-kappaB and STAT1 activation in the HaCaT cells. 53 62
19576177 2009
16
Association between a common IL10 distal promoter haplotype and IgE production in individuals with atopic dermatitis. 53 62
19552724 2009
17
A distinct profile of serum levels of soluble intercellular adhesion molecule-1 and intercellular adhesion molecule-3 in mycosis fungoides and Sézary syndrome. 53 62
19615537 2009
18
A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins. 53 62
19438860 2009
19
Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation. 53 62
19689541 2009
20
A functional polymorphism in the SPINK5 gene is associated with asthma in a Chinese Han Population. 53 62
19534795 2009
21
PKA-induced F-actin rearrangement requires phosphorylation of Hsp27 by the MAPKAP kinase MK5. 53 62
19166925 2009
22
Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. 53 62
18987669 2009
23
Loss of serum response factor in keratinocytes results in hyperproliferative skin disease in mice. 53 62
19307725 2009
24
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. 53 62
19106041 2009
25
Efalizumab binding to the LFA-1 alphaL I domain blocks ICAM-1 binding via steric hindrance. 53 62
19258452 2009
26
Functional characterization of IL-17F as a selective neutrophil attractant in psoriasis. 53 62
18830271 2009
27
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss. 53 62
19283857 2009
28
TNF-alpha stimulates Akt by a distinct aPKC-dependent pathway in premalignant keratinocytes. 53 62
18557926 2008
29
Keratinocytes enriched for epidermal stem cells differ in their response to IFN-gamma from other proliferative keratinocytes. 53 62
18557928 2008
30
Th17 cytokines interleukin (IL)-17 and IL-22 modulate distinct inflammatory and keratinocyte-response pathways. 53 62
18684158 2008
31
Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. 53 62
18955862 2008
32
Reactive oxygen species in tumor necrosis factor-alpha-activated primary human keratinocytes: implications for psoriasis and inflammatory skin disease. 53 62
18463678 2008
33
Novel immunological approaches in the treatment of atopic eczema. 53 62
18769195 2008
34
CD40 expression on antigen presenting cells and correlation with disease severity in atopic dermatitis. 53 62
18693155 2008
35
An eosinophil immune response characterizes the inflammatory skin disease observed in Tie-2 transgenic mice. 53 62
18443190 2008
36
Psoriatic skin lesions induced by tumor necrosis factor antagonist therapy: a literature review and potential mechanisms of action. 53 62
18576309 2008
37
TGF-beta-dependent suppressive function of Tregs requires wild-type levels of CD18 in a mouse model of psoriasis. 53 62
18521187 2008
38
Efficacy and safety of TNF-blocker therapy in systemic lupus erythematosus. 53 62
18613805 2008
39
Microbicidal protein psoriasin is a multifunctional modulator of neutrophil activation. 53 62
18194266 2008
40
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. 53 62
18472371 2008
41
[Biological treatment of psoriasis and psoriatic arthritis]. 53 62
18565300 2008
42
IgE antibody responses in young children with atopic dermatitis. 53 62
18422892 2008
43
Antimicrobial peptides, skin infections, and atopic dermatitis. 53 62
18620136 2008
44
Filaggrin mutations, atopic eczema, hay fever, and asthma in children. 53 62
18396323 2008
45
Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. 53 62
18436651 2008
46
5' trans-splicing repair of the PLEC1 gene. 53 62
17989727 2008
47
A skin microRNA promotes differentiation by repressing 'stemness'. 46
18311128 2008
48
Thematic review series: skin lipids. Peroxisome proliferator-activated receptors and liver X receptors in epidermal biology. 53 62
18182682 2008
49
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 53 62
18089569 2008
50
Preliminary validation and clinical meaning of the Cutaneous Assessment Tool in juvenile dermatomyositis. 53 62
18240194 2008

Variations for Skin Disease

ClinVar genetic disease variations for Skin Disease:

5 (show all 47)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLG-AS1, FLG NM_002016.2(FLG):c.544A>T (p.Lys182Ter) SNV Pathogenic
523448 rs1218912272 GRCh37: 1:152286818-152286818
GRCh38: 1:152314342-152314342
2 KRT14 NM_000526.5(KRT14):c.92del (p.Ile31fs) DEL Pathogenic
66385 rs60231560 GRCh37: 17:39742995-39742995
GRCh38: 17:41586743-41586743
3 NF1 NM_001042492.3(NF1):c.3297del (p.Lys1099fs) DEL Pathogenic
1180602 GRCh37: 17:29559188-29559188
GRCh38: 17:31232170-31232170
4 NF1 NM_001042492.3(NF1):c.3816_3817del (p.Gln1272fs) DEL Pathogenic
1180644 GRCh37: 17:29562735-29562736
GRCh38: 17:31235717-31235718
5 LAMB3 NM_000228.3(LAMB3):c.1289-2_1296del DEL Pathogenic
1180738 GRCh37: 1:209800917-209800926
GRCh38: 1:209627572-209627581
6 COL7A1 NM_000094.4(COL7A1):c.6269del (p.Pro2090fs) DEL Pathogenic
1180763 GRCh37: 3:48612507-48612507
GRCh38: 3:48575074-48575074
7 NCSTN NM_015331.3(NCSTN):c.1635C>G (p.Tyr545Ter) SNV Pathogenic
1180810 GRCh37: 1:160326133-160326133
GRCh38: 1:160356343-160356343
8 COL7A1 NM_000094.4(COL7A1):c.3117_3120del (p.Glu1039fs) DEL Pathogenic
1180836 GRCh37: 3:48624642-48624645
GRCh38: 3:48587209-48587212
9 COL7A1 NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) SNV Pathogenic
374052 rs780261665 GRCh37: 3:48627691-48627691
GRCh38: 3:48590258-48590258
10 CLCN6 NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) SNV Pathogenic
974617 rs1644918844 GRCh37: 1:11894424-11894424
GRCh38: 1:11834367-11834367
11 TGM1 NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) DUP Pathogenic
372530 rs1057517836 GRCh37: 14:24731001-24731002
GRCh38: 14:24261795-24261796
12 COL7A1 NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) SNV Pathogenic
29636 rs121912856 GRCh37: 3:48630971-48630971
GRCh38: 3:48593538-48593538
13 COL17A1 NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs) MICROSAT Pathogenic
599000 rs765243124 GRCh37: 10:105793711-105793714
GRCh38: 10:104033953-104033956
14 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val) SNV Pathogenic
3807 rs28940881 GRCh37: 11:88911122-88911122
GRCh38: 11:89177954-89177954
15 TYR NM_000372.5(TYR):c.996G>A (p.Met332Ile) SNV Pathogenic
1180809 GRCh37: 11:88924546-88924546
GRCh38: 11:89191378-89191378
16 TYR NM_000372.5(TYR):c.1037-7T>A SNV Pathogenic
99527 rs61754381 GRCh37: 11:88960984-88960984
GRCh38: 11:89227816-89227816
17 TYR NM_000372.5(TYR):c.1204C>T (p.Arg402Ter) SNV Pathogenic
99542 rs62645917 GRCh37: 11:89017960-89017960
GRCh38: 11:89284792-89284792
18 NF1 NM_001042492.3(NF1):c.1185+1G>T SNV Pathogenic
962619 rs864622161 GRCh37: 17:29528178-29528178
GRCh38: 17:31201160-31201160
19 NF1 NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) SNV Pathogenic
354 rs137854557 GRCh37: 17:29541542-29541542
GRCh38: 17:31214524-31214524
20 LOC111811965, NF1 NM_001042492.3(NF1):c.31C>T (p.Gln11Ter) SNV Pathogenic
230597 rs876658658 GRCh37: 17:29422358-29422358
GRCh38: 17:31095340-31095340
21 NF1 NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) SNV Pathogenic
230673 rs778405030 GRCh37: 17:29533315-29533315
GRCh38: 17:31206297-31206297
22 NF1 NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) SNV Pathogenic
220152 rs760703505 GRCh37: 17:29588751-29588751
GRCh38: 17:31261733-31261733
23 NF1 NM_001042492.3(NF1):c.2002-2A>C SNV Pathogenic
485945 rs1555613741 GRCh37: 17:29553451-29553451
GRCh38: 17:31226433-31226433
24 TGM1 NM_000359.3(TGM1):c.428G>A (p.Arg143His) SNV Pathogenic
12481 rs121918719 GRCh37: 14:24730981-24730981
GRCh38: 14:24261775-24261775
25 KRT17 NM_000422.3(KRT17):c.275A>G (p.Asn92Ser) SNV Pathogenic
14587 rs59151893 GRCh37: 17:39780487-39780487
GRCh38: 17:41624235-41624235
26 NF1 NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) SNV Pathogenic
230467 rs866445127 GRCh37: 17:29679366-29679366
GRCh38: 17:31352348-31352348
27 FERMT1 NM_017671.5(FERMT1):c.958-1G>A SNV Likely Pathogenic
224175 rs869312726 GRCh37: 20:6077681-6077681
GRCh38: 20:6097034-6097034
28 TYR NM_000372.5(TYR):c.1037G>A (p.Gly346Glu) SNV Likely Pathogenic
617799 rs773970123 GRCh37: 11:88960991-88960991
GRCh38: 11:89227823-89227823
29 TYR NM_000372.5(TYR):c.286dup (p.Met96fs) DUP Likely Pathogenic
3788 rs61753190 GRCh37: 11:88911406-88911407
GRCh38: 11:89178238-89178239
30 TGM1 NM_000359.3(TGM1):c.1147G>A (p.Val383Met) SNV Likely Pathogenic
12488 rs121918722 GRCh37: 14:24728293-24728293
GRCh38: 14:24259087-24259087
31 NF1 NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) SNV Likely Pathogenic
68360 rs199474756 GRCh37: 17:29508500-29508500
GRCh38: 17:31181482-31181482
32 LAMC2 NM_005562.3(LAMC2):c.3365T>G (p.Leu1122Ter) SNV Likely Pathogenic
1180731 GRCh37: 1:183212318-183212318
GRCh38: 1:183243183-183243183
33 TYR NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) SNV Likely Pathogenic
3777 rs104894313 GRCh37: 11:89017973-89017973
GRCh38: 11:89284805-89284805
34 COL7A1 NM_000094.4(COL7A1):c.6501G>A (p.Pro2167=) SNV Likely Pathogenic
623128 rs767539005 GRCh37: 3:48611695-48611695
GRCh38: 3:48574262-48574262
35 PLEC NM_201384.3(PLEC):c.647_656del (p.Leu216fs) DEL Likely Pathogenic
1180623 GRCh37: 8:145009428-145009437
GRCh38: 8:143935260-143935269
36 TGM1 NM_000359.3(TGM1):c.425G>A (p.Arg142His) SNV Likely Pathogenic
12485 rs121918718 GRCh37: 14:24730984-24730984
GRCh38: 14:24261778-24261778
37 TGM1 NM_000359.3(TGM1):c.1166G>A (p.Arg389His) SNV Likely Pathogenic
12489 rs121918723 GRCh37: 14:24727873-24727873
GRCh38: 14:24258667-24258667
38 ITGB4 NM_000213.5(ITGB4):c.1135C>T (p.Arg379Ter) SNV Likely Pathogenic
1180851 GRCh37: 17:73727369-73727369
GRCh38: 17:75731288-75731288
39 ABCA12 NM_173076.3(ABCA12):c.2658_2661del (p.Glu886fs) DEL Likely Pathogenic
1180821 GRCh37: 2:215868955-215868958
GRCh38: 2:215004231-215004234
40 DSG1 NM_001942.4(DSG1):c.684+1G>A SNV Likely Pathogenic
1180790 GRCh37: 18:28911831-28911831
GRCh38: 18:31331868-31331868
41 COL7A1 NM_000094.4(COL7A1):c.6464del (p.Pro2155fs) DEL Likely Pathogenic
1180806 GRCh37: 3:48611732-48611732
GRCh38: 3:48574299-48574299
42 PNPLA1 NM_001374623.1(PNPLA1):c.670A>G (p.Asn224Asp) SNV Likely Pathogenic
1180808 GRCh37: 6:36262132-36262132
GRCh38: 6:36294355-36294355
43 CERS3 NM_001378789.1(CERS3):c.223C>T (p.Arg75Ter) SNV Likely Pathogenic
1180727 GRCh37: 15:101031087-101031087
GRCh38: 15:100490882-100490882
44 LAMB3 NM_000228.3(LAMB3):c.2582C>A (p.Ser861Ter) SNV Likely Pathogenic
1180728 GRCh37: 1:209796000-209796000
GRCh38: 1:209622655-209622655
45 CERS3 NM_001378789.1(CERS3):c.915C>A (p.Asn305Lys) SNV Likely Pathogenic
1180734 GRCh37: 15:100996182-100996182
GRCh38: 15:100455977-100455977
46 COL17A1 NM_000494.4(COL17A1):c.3579G>A (p.Trp1193Ter) SNV Likely Pathogenic
1180606 GRCh37: 10:105795061-105795061
GRCh38: 10:104035303-104035303
47 KRT1 NM_006121.4(KRT1):c.744T>A (p.Asp248Glu) SNV Uncertain Significance
523489 rs1555171425 GRCh37: 12:53072388-53072388
GRCh38: 12:52678604-52678604

Expression for Skin Disease

Search GEO for disease gene expression data for Skin Disease.

Pathways for Skin Disease

Pathways related to Skin Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.5 PLEC LAMC2 LAMB3 ITGB4 COL7A1 COL17A1
2
Show member pathways
12.35 COL17A1 ITGB4 KRT14 LAMB3 LAMC2 PLEC
3
Show member pathways
12.17 TGM1 KRT17 KRT14 FLG DSG3 DSG1
4
Show member pathways
11.89 LAMC2 LAMB3 ITGB4 COL7A1
5
Show member pathways
11.81 PLEC NCSTN LAMC2 LAMB3 ITGB4 COL7A1
6
Show member pathways
11.71 PLEC DSG3 DSG1
7 10.82 LAMC2 LAMB3 ITGB4 COL17A1
8 10.71 LAMC2 LAMB3 ITGB4 COL7A1 COL17A1

GO Terms for Skin Disease

Cellular components related to Skin Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 10.02 LAMC2 LAMB3 FLG COL7A1 COL17A1
2 anchoring junction GO:0070161 9.65 PLEC ITGB4 DSG3 DSG1 COL17A1
3 hemidesmosome GO:0030056 9.63 COL17A1 ITGB4 PLEC
4 basement membrane GO:0005604 9.61 LAMC2 LAMB3 ITGB4 COL7A1 COL17A1
5 cell periphery GO:0071944 9.54 PLEC KRT17 KRT14
6 cornified envelope GO:0001533 9.4 TGM1 KRT17 KRT14 FLG DSG3 DSG1

Biological processes related to Skin Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.02 LAMC2 LAMB3 ITGB4 DSG3 DSG1 COL7A1
2 intermediate filament organization GO:0045109 9.88 PLEC KRT17 KRT14
3 epidermis development GO:0008544 9.85 LAMC2 LAMB3 KRT14 COL7A1 COL17A1
4 establishment of skin barrier GO:0061436 9.8 PLEC FLG ABCA12
5 skin morphogenesis GO:0043589 9.61 ITGB4 ABCA12
6 myelination in peripheral nervous system GO:0022011 9.56 ITGB4 NF1 PLEC
7 hemidesmosome assembly GO:0031581 9.43 PLEC ITGB4 COL17A1
8 keratinocyte differentiation GO:0030216 9.23 TGM1 PLEC KRT14 FLG ABCA12

Molecular functions related to Skin Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.23 PLEC LAMB3 KRT17 KRT14 FLG

Sources for Skin Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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