MCID: PGM003
MIFTS: 39

Pigmentation Disease malady

Categories: Skin diseases

Aliases & Classifications for Pigmentation Disease

Aliases & Descriptions for Pigmentation Disease:

Name: Pigmentation Disease 12 14
Pigmentation Disorders 52 69
Skin Pigmentation Disorder 69

Classifications:



External Ids:

Disease Ontology 12 DOID:10123
ICD9CM 35 709.09
ICD10 33 L81 L81.8
UMLS 69 C0375489

Summaries for Pigmentation Disease

MalaCards based summary : Pigmentation Disease, also known as pigmentation disorders, is related to hypomelanosis of ito and dyschromatosis symmetrica hereditaria, and has symptoms including exanthema, pruritus and polydipsia. An important gene associated with Pigmentation Disease is TYR (Tyrosinase), and among its related pathways/superpathways are Glucose / Energy Metabolism and Estrogen metabolism. The drugs Clindamycin and Pimecrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are growth/size/body region and endocrine/exocrine gland

Wikipedia : 71 Pigmentation disorders are disturbances of human skin color, either loss or reduction, which may be... more...

Related Diseases for Pigmentation Disease

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 hypomelanosis of ito 11.0
2 dyschromatosis symmetrica hereditaria 10.6
3 reticulate acropigmentation of kitamura 10.6
4 dyschromatosis universalis hereditaria 10.5
5 neonatal jaundice 10.5
6 dowling-degos disease 1 10.5
7 dowling-degos disease 2 10.5
8 dowling-degos disease 10.5
9 melanoma, cutaneous malignant 8 10.2 MITF TYR
10 epilepsy, progressive myoclonic 5 10.2 MITF TYR
11 hyperbilirubinemia, familial transient neonatal 10.2 UGT1A1 UGT1A6
12 intracranial embolism 10.2 MITF TYR
13 punctate epithelial keratoconjunctivitis 10.2 UGT1A1 UGT1A6
14 external ear basal cell carcinoma 10.2 MITF TYR
15 verrucous papilloma 10.2 MITF TYR
16 neutropenia, severe congenital 2, autosomal dominant 10.1 UGT1A1 UGT1A6
17 renal artery disease 10.1 PKM UGT1A1 UGT1A6
18 posterior uveal melanoma 10.1 INS UGT1A1 UGT1A6
19 abacavir toxicity 10.1 SLCO1B1 UGT1A1
20 fatal infantile encephalocardiomyopathy 10.1 ADA ADAR
21 hyperphosphatemia 10.1 AGPAT2 INS
22 endometriosis of uterus 10.0 SLCO1B1 UGT1A1
23 hepatic lipase deficiency 10.0 ADAR POFUT1
24 pyeloureteritis cystica 10.0 SLCO1B1 UGT1A1 UGT1A6
25 pyelitis 10.0 SLCO1B1 UGT1A1 UGT1A6
26 craniosynostosis 6 10.0 MITF TYR
27 aicardi-goutieres syndrome 6 9.9 ADA ADAR MITF TYR
28 gallbladder disease 9.8 ADAR POFUT1 POGLUT1 TYR
29 pigmented villonodular synovitis 9.7
30 epidermolysis bullosa simplex, recessive 1 9.5 ADAR FGFR3 MITF POFUT1 POGLUT1 TYR
31 cerebral artery occlusion 8.3 ADA ADAR AGPAT2 FGFR3 INS MITF

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



Diseases related to Pigmentation Disease

Symptoms & Phenotypes for Pigmentation Disease

UMLS symptoms related to Pigmentation Disease:


exanthema, pruritus, polydipsia, muscle weakness

MGI Mouse Phenotypes related to Pigmentation Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 ADA ADAR AGPAT2 FGFR3 INS MITF
2 endocrine/exocrine gland MP:0005379 9.95 ADA AGPAT2 INS MITF POFUT1 POGLUT1
3 immune system MP:0005387 9.92 ADA ADAR AGPAT2 FGFR3 INS MITF
4 embryo MP:0005380 9.91 ADAR INS MITF POFUT1 POGLUT1 TYR
5 integument MP:0010771 9.73 MITF POFUT1 TYR AGPAT2 FGFR3 INS
6 mortality/aging MP:0010768 9.65 TYR ADA ADAR AGPAT2 FGFR3 INS
7 limbs/digits/tail MP:0005371 9.55 POFUT1 TYR AGPAT2 FGFR3 MITF
8 skeleton MP:0005390 9.23 ADA ADAR AGPAT2 FGFR3 INS MITF

Drugs & Therapeutics for Pigmentation Disease

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

(show top 50) (show all 425)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
2
Pimecrolimus Approved, Investigational Phase 4,Phase 2 137071-32-0 6447131 17753757
3
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2 104987-11-3 445643 439492
4
Hydroquinone Approved Phase 4,Phase 3,Phase 2 123-31-9 785
5
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Early Phase 1 22916-47-8 4189
6
Azelaic acid Approved Phase 4,Phase 2,Phase 3 123-99-9 2266
7
Metformin Approved Phase 4 657-24-9 14219 4091
8
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
9
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
10
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1 347396-82-1 459903
11
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 31307
12
Timolol Approved Phase 4,Phase 3,Phase 2 26839-75-8 33624 5478
13
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 216974-75-3
14
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
15
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
16
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
17
Prilocaine Approved Phase 4 721-50-6 4906
18
Desonide Approved, Investigational Phase 4 638-94-8 5311066
19
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2 67-73-2 6215
20
Avobenzone Approved Phase 4 70356-09-1
21
Benzophenone Approved Phase 4 119-61-9 3102
22
Iron Approved Phase 4,Phase 1,Phase 2 7439-89-6 23925
23
Oxybenzone Approved Phase 4 131-57-7 4632
24 Titanium dioxide Approved Phase 4 13463-67-7
25
Zinc Approved Phase 4,Phase 3,Phase 1,Phase 2 7440-66-6 32051 23994
26
Zinc oxide Approved Phase 4,Phase 3 1314-13-2
27
Acetylcholine Approved Phase 4 51-84-3 187
28
Salicylic acid Approved, Vet_approved Phase 4,Early Phase 1 69-72-7 338
29
Ethanol Approved Phase 4 64-17-5 702
30
Imiquimod Approved, Investigational Phase 4,Phase 3,Phase 2 99011-02-6 57469
31
Bimatoprost Approved, Investigational Phase 4,Phase 3 155206-00-1 5311027
32
Travoprost Approved Phase 4,Phase 3 157283-68-6 5282226
33 sodium fluoride Approved Phase 4 7681-49-4
34
Brinzolamide Approved Phase 4 138890-62-7 68844
35
Glycerol Approved, Experimental Phase 4 56-81-5 753
36
Polidocanol Approved Phase 4 9002-92-0
37
Adapalene Approved Phase 4 106685-40-9 60164
38
Benzoyl peroxide Approved Phase 4 94-36-0 7187
39
Ephedrine Approved Phase 4,Phase 2,Phase 1 299-42-3 9294
40
Pseudoephedrine Approved Phase 4,Phase 2,Phase 1 90-82-4 7028
41
Ezogabine Approved Phase 4,Phase 3 150812-12-7 121892
42
Spironolactone Approved Phase 4,Phase 2,Phase 3,Phase 1 1952-01-7, 52-01-7 5833
43
Fluorouracil Approved Phase 4,Phase 1,Early Phase 1 51-21-8 3385
44
Aminolevulinic acid Approved Phase 4 106-60-5 137
45
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
46
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
47
Verteporfin Approved, Investigational Phase 4,Phase 1 129497-78-5
48
Sorbitol Approved Phase 4 50-70-4 5780
49
Tretinoin Approved, Investigational, Nutraceutical Phase 4,Phase 2,Phase 3,Early Phase 1 302-79-4 5538
50
Lutein Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 127-40-2 6433159 5368396

Interventional clinical trials:

(show top 50) (show all 571)
id Name Status NCT ID Phase
1 Effect of Fluticasone Proprionate 0.05% on Narrow Band UV-B in Active Vitiligo Unknown status NCT01246921 Phase 4
2 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
3 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
4 Efficacy & Safety of Clindamycin and Tretinoin in Acne Unknown status NCT01111994 Phase 4
5 Vitiligo and the Koebner Phenomenon (Model of Vitiligo Induction and Therapy: a Clinical and Immunological Analysis) Unknown status NCT01082393 Phase 4
6 Comparison of Efficacy and Safety of 0.1% Tacrolimus and 0.1% Mometasone Furoate for Adult Vitiligo Unknown status NCT01333410 Phase 4
7 Clinical Trial of Hydroquinone Versus Miconazol in Melasma Unknown status NCT01661556 Phase 4
8 Azelaic Acid Versus Hydroquinone in Melasma Unknown status NCT00927771 Phase 4
9 Study of Efficacy of Metformin in the Treatment of Acanthosis Nigricans in Children With Obesity Unknown status NCT02438020 Phase 4
10 On-label tReatment With Intravitreal Aflibercept injectiOn for Patients With Persistent Pigment epitheliaL Detachments in Neovascular Age Related Macular Degeneration (AMD) Unknown status NCT01670162 Phase 4
11 Use of a New Phototherapy Device (BBloo®) for the Treatment of Hyperbilirubinemia in the Newborn Infant Unknown status NCT02156050 Phase 4
12 The Laser in Pseudoexfoliation (LIP) Study Unknown status NCT01704989 Phase 4
13 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
14 Long Term Efficacy and Safety of Eryfotona AK-NMSC® in Patients With Actinic Keratosis Unknown status NCT01656226 Phase 4
15 A Post-Market Study to Evaluate Adverse Event Incidence Rates in Patients With Skin of Color Undergoing Correction of Nasolabial Folds With Hylaform, Hylaform Plus and Captique. Completed NCT00293163 Phase 4
16 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
17 Fractional Laser Assisted Delivery of Anesthetics III Completed NCT02938286 Phase 4
18 Fractional Laser Assisted Delivery of Anesthetics Completed NCT02246179 Phase 4
19 Post Market Safety Study and Effectiveness With Evolence in Subjects With Skin Color Types IV-VI Completed NCT00891774 Phase 4
20 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4
21 Clinical Trial of 4% Niacinamide Versus 0.05% Desonide for the Treatment of Axillar Hyperpigmentation Completed NCT01542138 Phase 4
22 Evaluation of an Herbal-Based De-Pigmenting System Completed NCT02138539 Phase 4
23 Study to Evaluate the Effect of a Nu Skin Product and Device for Brown Spots Completed NCT01149876 Phase 4
24 Assessment of Atrophogenic Potential of Triple Combination Cream for Treatment of Melasma Completed NCT00469183 Phase 4
25 Comparison of Two Tri-Luma® Maintenance Regimens in the Treatment of Melasma Completed NCT00500162 Phase 4
26 NB-UVB and PUVA Vitiligo Study Completed NCT01732965 Phase 4
27 Ultraviolet and UV-Visible Light Photoprotection for the Treatment of Melasma Completed NCT01695356 Phase 4
28 Botulinum Toxin Treatment for Localized Vitiligo Completed NCT01051687 Phase 4
29 Salicylic Acid Peels Combined With 4% Hydroquinone in the Treatment of Moderate to Severe Melasma in Hispanic Women Completed NCT00616239 Phase 4
30 Efficacy and Safety of Therapy With Tri-Luma® Cream in Sequence With Glycolic Acid Peels for Melasma Completed NCT00472966 Phase 4
31 Treatment of Melasma With Jessner's Solution vs. Trichloroacetic Acid Completed NCT00166192 Phase 4
32 Efficacy and Safety Study of Finacea to Treat Acne Vulgaris and Post-Inflammatory Hyperpigmentation (PIH) Completed NCT01038869 Phase 4
33 Effect of Topical Imiquimod on Lentigo Maligna Completed NCT01161888 Phase 4
34 Intravitreal Ranibizumab in Retinal Pigment Epithelial Detachments Completed NCT00976222 Phase 4
35 Intravitreal Aflibercept Injection for the Treatment of Submacular Vascularized Pigment Epithelial Detachment Completed NCT01722656 Phase 4
36 Skin Aging in Renal Transplant Patients Completed NCT01776983 Phase 4
37 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 S Completed NCT01915914 Phase 4
38 Efficacy on Pain Following a Procedure for Injecting Sclerotherapeutic Foam Into the Great Saphenous Vein Completed NCT01368159 Phase 4
39 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4
40 Efficacy of Changing to DUOTRAV® From Prior Therapy Completed NCT01327599 Phase 4
41 Open Label to Study to Evaluate Effect of Alfilbercept on Patients With (FVPED) Fibrovascular Pigment Epithelial Detachment Completed NCT01495208 Phase 4
42 Efficacy of a Whitening Dentifrice on Tooth Discoloration Completed NCT02741427 Phase 4
43 Use of Bevacizumab in Trabeculectomy Surgery Completed NCT01166594 Phase 4
44 Phase IV Randomised Double-masked Clinical Trial: Assessing Morning Versus Evening Dosing of a Fixed Dose Combination of Travoprost 0.004% / Timolol Maleate 0.5% in Patients With Primary Open-angle Glaucoma or Ocular Hypertension Completed NCT00759239 Phase 4
45 Study to Investigate the Safety and Efficacy of Ranibizumab in Patients With Choroidal Neovascularisation Due to Causes Other Than Age Related Macular Degeneration Completed NCT01628354 Phase 4
46 Study of Brinzolamide and Timolol When Added to Travoprost in Primary Open-angle Glaucoma or Ocular Hypertension Completed NCT00372827 Phase 4
47 Efficacy and Safety of Kinetin 0.1% for Treatment of Skin Photoaging Completed NCT01898182 Phase 4
48 Patient Preference Comparison of AZARGA Versus COSOPT in Patients With Glaucoma Completed NCT01471158 Phase 4
49 Adapalene BPO Gel Pump, Moisturizer SPF 30 and Foam Wash in Patients With Mild to Moderate Acne Vulgaris Completed NCT01951417 Phase 4
50 Determination of Sensitive Skin and Its Biophysical Response in a Latin-American Population Completed NCT01591993 Phase 4

Search NIH Clinical Center for Pigmentation Disease

Genetic Tests for Pigmentation Disease

Anatomical Context for Pigmentation Disease

MalaCards organs/tissues related to Pigmentation Disease:

39
Skin

Publications for Pigmentation Disease

Variations for Pigmentation Disease

Expression for Pigmentation Disease

Search GEO for disease gene expression data for Pigmentation Disease.

Pathways for Pigmentation Disease

GO Terms for Pigmentation Disease

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.1 AGPAT2 FGFR3 POFUT1 POGLUT1 UGT1A1 UGT1A6

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

id Name GO ID Score Top Affiliating Genes
1 protein O-linked glycosylation GO:0006493 9.4 POFUT1 POGLUT1
2 pigmentation GO:0043473 9.37 MITF TYR
3 liver development GO:0001889 9.33 ADA PKM UGT1A1
4 acute-phase response GO:0006953 9.32 INS UGT1A1
5 cellular glucuronidation GO:0052695 9.26 UGT1A1 UGT1A6
6 metabolic process GO:0008152 9.02 AGPAT2 PKM TYR UGT1A1 UGT1A6
7 xenobiotic glucuronidation GO:0052697 8.96 UGT1A1 UGT1A6

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.7 AGPAT2 FGFR3 PKM POFUT1 POGLUT1 UGT1A1
2 transferase activity, transferring hexosyl groups GO:0016758 9.37 UGT1A1 UGT1A6
3 glucuronosyltransferase activity GO:0015020 9.32 UGT1A1 UGT1A6
4 retinoic acid binding GO:0001972 9.26 UGT1A1 UGT1A6
5 adenosine deaminase activity GO:0004000 8.96 ADA ADAR
6 transferase activity, transferring glycosyl groups GO:0016757 8.92 POFUT1 POGLUT1 UGT1A1 UGT1A6

Sources for Pigmentation Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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