Aliases & Classifications for Pigmentation Disease

MalaCards integrated aliases 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 dyschromatosis symmetrica hereditaria and hypomelanosis of ito, 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 Irinotecan Pathway. The drugs Epinephrine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are growth/size/body region and endocrine/exocrine gland

Related Diseases for Pigmentation Disease

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

(show all 35)
id Related Disease Score Top Affiliating Genes
1 dyschromatosis symmetrica hereditaria 30.4 ADA ADAR MITF TYR
2 hypomelanosis of ito 10.7
3 tietz albinism-deafness syndrome 10.6 MITF TYR
4 hyperbilirubinemia, familial transient neonatal 10.6 UGT1A1 UGT1A6
5 commad syndrome 10.6 MITF TYR
6 sebaceous basal cell carcinoma 10.6 MITF TYR
7 schnitzler syndrome 10.5 MITF TYR
8 punctate epithelial keratoconjunctivitis 10.5 UGT1A1 UGT1A6
9 fallopian tube serous papilloma 10.5 MITF TYR
10 thyroid angiosarcoma 10.5 MITF TYR
11 reticulate acropigmentation of kitamura 10.5
12 dowling-degos disease 10.5
13 dyschromatosis universalis hereditaria 10.5
14 neonatal jaundice 10.5
15 melanoma, cutaneous malignant 8 10.5 MITF TYR
16 legius syndrome 10.4
17 dihydropyrimidine dehydrogenase deficiency 10.4 UGT1A1 UGT1A6
18 autism susceptibility 16 10.3 MITF TYR
19 fatal infantile encephalocardiomyopathy 10.3 ADA ADAR
20 renal artery disease 10.3 PKM UGT1A1 UGT1A6
21 ovarian clear cell malignant adenofibroma 10.3 INS UGT1A1 UGT1A6
22 crigler-najjar syndrome, type ii 10.3 UGT1A1 UGT1A6
23 raltegravir toxicity 10.3 SLCO1B1 UGT1A1
24 alzheimer disease 18 10.2 ADAR POFUT1
25 epidermolysis bullosa simplex-mcr 10.2 FGFR3 MITF TYR
26 nodular degeneration of cornea 10.2 SLCO1B1 UGT1A1
27 lissencephaly 10.1 AGPAT2 INS
28 mucinoses 10.1 FGFR3 INS
29 pyeloureteritis cystica 10.0 SLCO1B1 UGT1A1 UGT1A6
30 rh deficiency syndrome 9.9 MITF TYR
31 glandular cystitis 9.9 SLCO1B1 UGT1A1
32 pigmented villonodular synovitis 9.7
33 pyelitis 9.7 PKM SLCO1B1 UGT1A1 UGT1A6
34 ptosis 9.4 ADAR POFUT1 POGLUT1 TYR
35 acute hydrops keratoconus 5.7 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 TYR ADA ADAR AGPAT2 FGFR3 INS
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 MITF POFUT1 POGLUT1 TYR ADAR INS
5 integument MP:0010771 9.73 AGPAT2 FGFR3 INS MITF POFUT1 TYR
6 mortality/aging MP:0010768 9.65 ADA ADAR AGPAT2 FGFR3 INS MITF
7 limbs/digits/tail MP:0005371 9.55 AGPAT2 FGFR3 MITF POFUT1 TYR
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 382)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Prilocaine Approved Phase 4 721-50-6 4906
4 Racepinephrine Approved Phase 4
5
Pimecrolimus Approved, Investigational Phase 4 137071-32-0 6447131 17753757
6
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 445643 439492
7
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
8
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
9
Ranibizumab Approved Phase 4,Phase 3,Phase 2,Phase 1 347396-82-1 459903
10
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
11
Metformin Approved Phase 4 657-24-9 14219 4091
12
Timolol Approved Phase 4,Phase 3,Phase 2 26839-75-8 33624 5478
13
Bevacizumab Approved, Investigational Phase 4,Phase 2,Phase 3 216974-75-3
14
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 31307
15
Eplerenone Approved Phase 4,Phase 2,Phase 3 107724-20-9 150310 443872
16
Spironolactone Approved Phase 4,Phase 2,Phase 3,Phase 1 1952-01-7, 52-01-7 5833
17
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
18
Bimatoprost Approved, Investigational Phase 4,Phase 3 155206-00-1 5311027
19
Travoprost Approved Phase 4,Phase 3 157283-68-6 5282226
20
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2 67-73-2 6215
21
Hydroquinone Approved Phase 4,Phase 2,Phase 1 123-31-9 785
22
Desonide Approved, Investigational Phase 4 638-94-8 5311066
23 sodium fluoride Approved Phase 4 7681-49-4
24
Brinzolamide Approved Phase 4 138890-62-7 68844
25
Ethanol Approved Phase 4 64-17-5 702
26
Glycerol Approved, Investigational Phase 4 56-81-5 753
27
Kinetin Approved Phase 4 525-79-1 3830
28
Polidocanol Approved Phase 4 9002-92-0
29
Dorzolamide Approved Phase 4,Phase 2,Phase 3 120279-96-1 3154 5284549
30
Adapalene Approved Phase 4 106685-40-9 60164
31
Benzoyl peroxide Approved Phase 4 94-36-0 7187
32
Ephedrine Approved Phase 4 299-42-3 9294
33
Pseudoephedrine Approved Phase 4 90-82-4 7028
34
Ezogabine Approved Phase 4,Phase 3 150812-12-7 121892
35
Fluorouracil Approved Phase 4,Phase 3,Phase 2,Phase 1 51-21-8 3385
36
Verteporfin Approved, Investigational Phase 4 129497-78-5
37
Zinc Approved Phase 4,Phase 1,Phase 2 7440-66-6 32051 23994
38
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
39
Sorbitol Approved Phase 4 50-70-4 5780
40
Tretinoin Approved, Investigational, Nutraceutical Phase 4,Phase 2,Early Phase 1 302-79-4 5538
41
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
42
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1,Phase 2 59-30-3 6037
43
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
44
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
45 Tocopherol Approved, Nutraceutical Phase 4
46
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
47
Maleic acid Experimental Phase 4,Phase 3,Phase 2 110-16-7 444266
48
Glycolic acid Investigational Phase 4,Early Phase 1 79-14-1 757
49 Anti-Allergic Agents Phase 4
50 Anti-Asthmatic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 450)

id Name Status NCT ID Phase Drugs
1 Effect of Fluticasone Proprionate 0.05% on Narrow Band UV-B in Active Vitiligo Unknown status NCT01246921 Phase 4 Fluticasone proprionate 0.05% cream
2 Fractional Laser Assisted Topical Anesthesia Unknown status NCT02548533 Phase 4 AHES;EMLA cream
3 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Unknown status NCT01640678 Phase 4
4 Vitiligo and the Koebner Phenomenon (Model of Vitiligo Induction and Therapy: a Clinical and Immunological Analysis) Unknown status NCT01082393 Phase 4 topical tacrolimus treatment;topical pimecrolimus treatment;local mometasone furoate treatment;cold cream
5 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 Aflibercept
6 Comparison of Efficacy and Safety of 0.1% Tacrolimus and 0.1% Mometasone Furoate for Adult Vitiligo Unknown status NCT01333410 Phase 4 tacrolimus ointment;Mometasone furoate
7 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
8 Use of a New Phototherapy Device (BBloo®) for the Treatment of Hyperbilirubinemia in the Newborn Infant Unknown status NCT02156050 Phase 4
9 The Laser in Pseudoexfoliation (LIP) Study Unknown status NCT01704989 Phase 4 Prostagladin
10 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
11 Efficacy & Safety of Clindamycin and Tretinoin in Acne Unknown status NCT01111994 Phase 4 Clindamycin Phosphate 1.2% and Tretinoin 0.025% Gel
12 Study of Efficacy of Metformin in the Treatment of Acanthosis Nigricans in Children With Obesity Unknown status NCT02438020 Phase 4 Metformin
13 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
14 Fractional Laser Assisted Delivery of Anesthetics III Completed NCT02938286 Phase 4 AHES
15 Fractional Laser Assisted Delivery of Anesthetics Completed NCT02246179 Phase 4 AHES;EMLA cream
16 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
17 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 Fluticasone propionate
18 Intravitreal Ranibizumab in Retinal Pigment Epithelial Detachments Completed NCT00976222 Phase 4 intravitreal injection with ranibizumab
19 Efficacy on Pain Following a Procedure for Injecting Sclerotherapeutic Foam Into the Great Saphenous Vein Completed NCT01368159 Phase 4
20 Intravitreal Aflibercept Injection for the Treatment of Submacular Vascularized Pigment Epithelial Detachment Completed NCT01722656 Phase 4 Aflibercept
21 Skin Aging in Renal Transplant Patients Completed NCT01776983 Phase 4
22 Fractional Laser Assisted Delivery of Anesthetics IIIb Completed NCT03279757 Phase 4 AHES 5 minutes;AHES 15 minutes;AHES 25 minutes;LTC 5 minutes;LTC 15 minutes;LTC 25 minutes
23 Efficacy of Changing to DUOTRAV® From Prior Therapy Completed NCT01327599 Phase 4 Travoprost 0.004%+Timolol 0.5% ophthalmic solution
24 Assessment of Atrophogenic Potential of Triple Combination Cream for Treatment of Melasma Completed NCT00469183 Phase 4 Fluocinolone acetonide .1%, hydroquinone 4%, tretinoin .05%
25 Eylea to Treat Retinal Pigment Epithelial Detachment (RPED) Secondary to Wet Age-Related Macular Degeneration (wAMD) Completed NCT02142296 Phase 4 Eylea
26 Clinical Trial of 4% Niacinamide Versus 0.05% Desonide for the Treatment of Axillar Hyperpigmentation Completed NCT01542138 Phase 4 Desonide;Niacinamide;Placebo
27 Open Label to Study to Evaluate Effect of Alfilbercept on Patients With (FVPED) Fibrovascular Pigment Epithelial Detachment Completed NCT01495208 Phase 4 Aflibercept
28 Efficacy of a Whitening Dentifrice on Tooth Discoloration Completed NCT02741427 Phase 4
29 Use of Bevacizumab in Trabeculectomy Surgery Completed NCT01166594 Phase 4 Bevacizumab;Control
30 Comparison of Two Tri-Luma® Maintenance Regimens in the Treatment of Melasma Completed NCT00500162 Phase 4
31 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
32 Evaluation of an Herbal-Based De-Pigmenting System Completed NCT02138539 Phase 4 Hydroquinone
33 Safety and Efficacy of Switching From Aflibercept to Ranibizumab in Patients With nAMD Completed NCT02161575 Phase 4 Ranibizumab
34 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 Travoprost 0.004% / Timolol maleate 0.5%;Travoprost 0.004% / Timolol maleate 0.5%
35 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 Ranibizumab
36 Study of Brinzolamide and Timolol When Added to Travoprost in Primary Open-angle Glaucoma or Ocular Hypertension Completed NCT00372827 Phase 4 Brinzolamide 1% added to Travoprost 0.004%
37 Efficacy and Safety of Kinetin 0.1% for Treatment of Skin Photoaging Completed NCT01898182 Phase 4
38 Patient Preference Comparison of AZARGA Versus COSOPT in Patients With Glaucoma Completed NCT01471158 Phase 4 Brinzolamide/Timolol Maleate Fixed Combination (AZARGA);Dorzolamide/timolol Maleate Fixed Combination (COSOPT)
39 Adapalene BPO Gel Pump, Moisturizer SPF 30 and Foam Wash in Patients With Mild to Moderate Acne Vulgaris Completed NCT01951417 Phase 4 Adapalene/BPO Gel
40 Determination of Sensitive Skin and Its Biophysical Response in a Latin-American Population Completed NCT01591993 Phase 4
41 Assessing the Efficacy and Tolerability of AZARGA® (Brinzolamide 1%/Timolol 0.5% Fixed Combination) as Replacement Therapy in Patients on Brimonidine 0.2%/Timolol 0.5% Fixed Combination Therapy (COMBIGAN®) in Latin America Completed NCT01518244 Phase 4 Brinzolamide/timolol maleate fixed combination
42 AZARGA Transition Study in Taiwan for Patients With Uncontrolled Intraocular Pressure Completed NCT01484951 Phase 4 Brinzolamide 1% and timolol 0.5% fixed combination eye drops
43 Ascorbic Acid Versus Diode Laser in the Treatment of Gingival Hyperpigmentation Completed NCT03252418 Phase 4 Ascorbic Acid 500 MG
44 Study to Evaluate the Effect of a Nu Skin Product and Device for Brown Spots Completed NCT01149876 Phase 4 Tretinoin cream 0.05
45 Safety and Efficacy of Changing to DuoTrav in Patients Uncontrolled on Timolol Completed NCT01336569 Phase 4 Travoprost 0.004%/timolol maleate 0.5% fixed combination
46 Cutivate Lotion HPA Axis Pediatric Study Completed NCT00546000 Phase 4 Fluticasone propionate 0.05% lotion
47 CPAP Effect on the Progression of Diabetic Retinopathy in Patients With Sleep Apnea Recruiting NCT02874313 Phase 4 Pharmacological treatment
48 Conventional Microneedling vs Microneedling With 5-FU (MMP) for Idiopathic Guttate Hypomelanosis (IGH) Repigmentation Recruiting NCT02904564 Phase 4
49 Photodynamic Therapy Versus Eplerenone: Treatment Trial for Chronic Central Serous Chorioretinopathy Recruiting NCT03079141 Phase 4 Eplerenone
50 Effectiveness of Narrow-band Ultraviolet B Combined With Topical Tacrolimus 0.03% in Treatment of Patients With Vitiligo Recruiting NCT03199664 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, Eye, Testes, Endothelial, Retina, Colon, Bone

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 9.43 POFUT1 POGLUT1
2 liver development GO:0001889 9.43 ADA PKM UGT1A1
3 acute-phase response GO:0006953 9.4 INS UGT1A1
4 cellular glucuronidation GO:0052695 9.37 UGT1A1 UGT1A6
5 xenobiotic glucuronidation GO:0052697 9.16 UGT1A1 UGT1A6
6 regulation of Notch signaling pathway GO:0008593 9.02 POGLUT1
7 metabolic process GO:0008152 9.02 AGPAT2 PKM TYR UGT1A1 UGT1A6
8 flavonoid glucuronidation GO:0052696 8.65 UGT1A1

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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