Aliases & Classifications for Pigmentation Disease

MalaCards integrated aliases for Pigmentation Disease:

Name: Pigmentation Disease 12 15
Pigmentation Disorders 55 73
Skin Pigmentation Disorder 73

Classifications:



External Ids:

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

Summaries for Pigmentation Disease

MalaCards based summary : Pigmentation Disease, also known as pigmentation disorders, is related to reticulate acropigmentation of kitamura and dowling-degos disease, 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 Codeine and Morphine Pathway, Pharmacokinetics. The drugs Fluticasone and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and eye, and related phenotypes are growth/size/body region and embryo

Related Diseases for Pigmentation Disease

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 reticulate acropigmentation of kitamura 31.4 ADAR POFUT1
2 dowling-degos disease 30.5 ADAR POFUT1 POGLUT1
3 neonatal jaundice 30.5 SLCO1B1 UGT1A1
4 dyschromatosis symmetrica hereditaria 30.4 ADA ADAR MITF TYR
5 hypomelanosis of ito 11.1
6 albinism, ocular, with sensorineural deafness 10.6 MITF TYR
7 pigmented basal cell carcinoma 10.6 MITF TYR
8 malignant spindle cell melanoma 10.6 MITF TYR
9 bilirubin, serum level of, quantitative trait locus 1 10.6 UGT1A1 UGT1A6
10 epithelioid cell melanoma 10.6 MITF TYR
11 descending colon cancer 10.6 UGT1A1 UGT1A6
12 breast angiosarcoma 10.6 MITF TYR
13 dyschromatosis universalis hereditaria 10.6
14 tietz albinism-deafness syndrome 10.6 MITF TYR
15 vitiligo-associated multiple autoimmune disease susceptibility 1 10.5
16 legius syndrome 10.5
17 dihydropyrimidine dehydrogenase deficiency 10.5 UGT1A1 UGT1A6
18 crigler-najjar syndrome, type i 10.5 UGT1A1 UGT1A6
19 crigler-najjar syndrome, type ii 10.5 UGT1A1 UGT1A6
20 hermansky-pudlak syndrome 3 10.4 MITF TYR
21 early onset absence epilepsy 10.4 ADA ADAR
22 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.3 AGPAT2 INS
23 acetaminophen metabolism 10.3 UGT1A1 UGT1A6
24 inherited metabolic disorder 10.3 INS UGT1A1 UGT1A6
25 kernicterus 10.3 PKM UGT1A1 UGT1A6
26 dowling-degos disease 1 10.2 FGFR3 MITF TYR
27 congenital generalized lipodystrophy 10.1 AGPAT2 INS
28 irinotecan toxicity 10.0 SLCO1B1 UGT1A1
29 glucosephosphate dehydrogenase deficiency 9.9 SLCO1B1 UGT1A1
30 familial partial lipodystrophy 9.9 AGPAT2 INS
31 pigmented villonodular synovitis 9.8
32 angiomyolipoma 9.8 MITF TYR
33 gilbert syndrome 9.7 SLCO1B1 UGT1A1 UGT1A6
34 trehalase deficiency 9.4 ADAR FGFR3 TYR UGT1A1
35 bilirubin metabolic disorder 9.3 PKM SLCO1B1 UGT1A1 UGT1A6

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 AGPAT2 POFUT1 FGFR3 POGLUT1 INS ADA
2 embryo MP:0005380 9.98 POGLUT1 TYR INS ADA MITF ADAR
3 endocrine/exocrine gland MP:0005379 9.95 AGPAT2 POFUT1 POGLUT1 INS ADA MITF
4 immune system MP:0005387 9.92 AGPAT2 POFUT1 FGFR3 INS ADA MITF
5 integument MP:0010771 9.8 POFUT1 FGFR3 TYR INS MITF ADAR
6 mortality/aging MP:0010768 9.65 POFUT1 FGFR3 POGLUT1 INS ADA MITF
7 limbs/digits/tail MP:0005371 9.55 AGPAT2 POFUT1 FGFR3 MITF TYR
8 skeleton MP:0005390 9.23 FGFR3 TYR INS ADA MITF ADAR

Drugs & Therapeutics for Pigmentation Disease

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

(show top 50) (show all 246)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluticasone Approved, Experimental, Investigational Phase 4,Not Applicable 90566-53-3 62924
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Lidocaine Approved, Vet_approved Phase 4,Not Applicable 137-58-6 3676
4
Prilocaine Approved Phase 4,Not Applicable 721-50-6 4906
5
Racepinephrine Approved Phase 4 329-65-7 838
6
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
7
Hydroquinone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 123-31-9 785
8
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable,Early Phase 1 22916-47-8 4189
9
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 104987-11-3 445643 439492
10
Pimecrolimus Approved, Investigational Phase 4,Phase 2 137071-32-0 6447131 17753757
11
Azelaic acid Approved Phase 4,Phase 2,Phase 3 123-99-9 2266
12
Metformin Approved Phase 4 657-24-9 14219 4091
13
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
14
Tetracaine Approved, Vet_approved Phase 4,Not Applicable 94-24-6 5411
15
Desonide Approved, Investigational Phase 4 638-94-8 5311066
16
Avobenzone Approved, Investigational Phase 4 70356-09-1
17
Benzophenone Approved Phase 4 119-61-9 3102
18
Iron Approved Phase 4,Phase 1,Phase 2 7439-89-6 23925
19
Oxybenzone Approved Phase 4 131-57-7 4632
20 Titanium dioxide Approved Phase 4 13463-67-7
21
Zinc Approved, Investigational Phase 4,Phase 2,Phase 1 7440-66-6 23994
22
Zinc oxide Approved Phase 4,Phase 2 1314-13-2
23
Acetylcholine Approved Phase 4 51-84-3 187
24
Salicylic acid Approved, Investigational, Vet_approved Phase 4,Not Applicable,Early Phase 1 69-72-7 338
25
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2 67-73-2 6215
26
Glycolic acid Approved, Investigational Phase 4,Not Applicable,Early Phase 1 79-14-1 757
27
Ethanol Approved Phase 4,Not Applicable 64-17-5 702
28
Benzoyl peroxide Approved Phase 4 94-36-0 7187
29
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
30
Aminolevulinic acid Approved Phase 4 106-60-5 137
31
Imiquimod Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 99011-02-6 57469
32
Fluorouracil Approved Phase 4 51-21-8 3385
33
Tretinoin Approved, Investigational, Nutraceutical Phase 4,Phase 2,Phase 3,Early Phase 1 302-79-4 5538 444795
34
Vitamin C Approved, Nutraceutical Phase 4,Not Applicable 50-81-7 5785 54670067
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Early Phase 1,Not Applicable 59-30-3 6037
36
Niacin Approved, Investigational, Nutraceutical Phase 4,Early Phase 1,Not Applicable 59-67-6 938
37
Nicotinamide Approved, Investigational, Nutraceutical Phase 4,Early Phase 1,Not Applicable 98-92-0 936
38 Anti-Allergic Agents Phase 4,Not Applicable
39 Anti-Asthmatic Agents Phase 4,Not Applicable
40 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
41 Autonomic Agents Phase 4,Phase 2,Not Applicable
42 Bronchodilator Agents Phase 4,Not Applicable
43 Dermatologic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
44 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
45 Respiratory System Agents Phase 4,Phase 1,Phase 2,Not Applicable
46 Adrenergic Agents Phase 4
47 Adrenergic Agonists Phase 4
48 Adrenergic alpha-Agonists Phase 4
49 Adrenergic beta-Agonists Phase 4
50 Anesthetics Phase 4,Phase 2,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 287)
# 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 Punchgrafting Techniques for Vitiligo Unknown status NCT01377077 Phase 4
5 Efficacy & Safety of Clindamycin and Tretinoin in Acne Unknown status NCT01111994 Phase 4 Clindamycin Phosphate 1.2% and Tretinoin 0.025% Gel
6 Clinical Trial of Hydroquinone Versus Miconazol in Melasma Unknown status NCT01661556 Phase 4 Miconazole;Hydroquinone
7 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
8 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
9 Azelaic Acid Versus Hydroquinone in Melasma Unknown status NCT00927771 Phase 4 azelaic acid gel;hydroquinone cream
10 Study of Efficacy of Metformin in the Treatment of Acanthosis Nigricans in Children With Obesity Unknown status NCT02438020 Phase 4 Metformin
11 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
12 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients Completed NCT02458417 Phase 4
13 Fractional Laser Assisted Delivery of Anesthetics III Completed NCT02938286 Phase 4 AHES
14 Fractional Laser Assisted Delivery of Anesthetics Completed NCT02246179 Phase 4 AHES;EMLA cream
15 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
16 Post Market Safety Study and Effectiveness With Evolence in Subjects With Skin Color Types IV-VI Completed NCT00891774 Phase 4
17 Treatment of Upper Eyelid Retraction Related to Thyroid-associated Ophthalmopathy Using Subconjunctival Triamcinolone Injections Completed NCT01599273 Phase 4 subconjunctival triamcinolone injection
18 Ascorbic Acid Versus Diode Laser in the Treatment of Gingival Hyperpigmentation Completed NCT03252418 Phase 4 Ascorbic Acid 500 MG
19 Evaluation of an Herbal-Based De-Pigmenting System Completed NCT02138539 Phase 4 Hydroquinone
20 Clinical Trial of 4% Niacinamide Versus 0.05% Desonide for the Treatment of Axillar Hyperpigmentation Completed NCT01542138 Phase 4 Desonide;Niacinamide;Placebo
21 Study to Evaluate the Effect of a Nu Skin Product and Device for Brown Spots Completed NCT01149876 Phase 4 Tretinoin cream 0.05
22 NB-UVB and PUVA Vitiligo Study Completed NCT01732965 Phase 4
23 Ultraviolet and UV-Visible Light Photoprotection for the Treatment of Melasma Completed NCT01695356 Phase 4 290-400 nm sunscreen;290-800 nm sunscreen
24 Botulinum Toxin Treatment for Localized Vitiligo Completed NCT01051687 Phase 4 Botulinum toxin A
25 Salicylic Acid Peels Combined With 4% Hydroquinone in the Treatment of Moderate to Severe Melasma in Hispanic Women Completed NCT00616239 Phase 4 20-30% Salicylic Acid peels to the right side of the face;20-30% Salicylic Acid peels to the left side of the face
26 Comparison of Two Tri-Luma® Maintenance Regimens in the Treatment of Melasma Completed NCT00500162 Phase 4
27 Efficacy and Safety of Therapy With Tri-Luma® Cream in Sequence With Glycolic Acid Peels for Melasma Completed NCT00472966 Phase 4 Fluocinolone acetonide 0.1%/hydroquinone 4%/tretinoin 0.05% Cream in sequence with glycolic acid peels
28 Assessment of Atrophogenic Potential of Triple Combination Cream for Treatment of Melasma Completed NCT00469183 Phase 4 Fluocinolone acetonide .1%, hydroquinone 4%, tretinoin .05%
29 Treatment of Melasma With Jessner's Solution vs. Trichloroacetic Acid Completed NCT00166192 Phase 4
30 The Use of Onexton in Moderate Acne Vulgaris for Patients With Skin of Color Completed NCT03402893 Phase 4 ONEXTON Topical Gel
31 Efficacy and Safety Study of Finacea to Treat Acne Vulgaris and Post-Inflammatory Hyperpigmentation (PIH) Completed NCT01038869 Phase 4 Azelaic acid
32 Convenience, Tolerability, and Safety of Change in the Administration of Rivastigmine From Capsules to a Transdermal Patch in Patients With Mild to Moderate Alzheimer's Disease Completed NCT00549601 Phase 4 Rivastigmine patch (4.6 mg/day switch to 9.5 mg/day);Rivastigmine patch (9.5 mg/day);Rivastigmine capsules (6 mg to 12 mg/day)
33 Photodynamic Therapy for Lentigo Maligna Using 5-aminolevulinic Acid Nanoemulsion as a Light Sensitizing Cream Completed NCT02685592 Phase 4 5-aminolevulinic acid nanoemulsion
34 Effect of Topical Imiquimod on Lentigo Maligna Completed NCT01161888 Phase 4 Imiquimod
35 Conventional Microneedling vs Microneedling With 5-FU (MMP) for Idiopathic Guttate Hypomelanosis (IGH) Repigmentation Recruiting NCT02904564 Phase 4
36 Effectiveness of Narrow-band Ultraviolet B Combined With Topical Tacrolimus 0.03% in Treatment of Patients With Vitiligo Recruiting NCT03199664 Phase 4
37 Bimatoprost 0.03% Solution With NB-UVB Versus Their Use With Fractional Carbon Dioxide Laser in Treatment of Generalized Vitiligo Not yet recruiting NCT03487042 Phase 4 Bimatoprost 0.03% ophthalmic solution
38 USE THE SYSTEMIC METFORMIN IN MELASMA Not yet recruiting NCT03475524 Phase 4 MetFORMIN 1000 Mg Oral Tablet;Placebos;Trichloroacetic Acid Peeling;MetFORMIN 500 Mg Oral Tablet
39 Modified Jessner's Solution With Trichloroacetic Acid Versus Glycolic Acid With Trichloroacetic Acid Not yet recruiting NCT03153852 Phase 4 Modified Jessner's solution;Glycolic acid;Trichloroacetic acid
40 Treatment of Melasma With Stabilized Kligman Preparation Associated or Not With Pulsed Dye Laser Terminated NCT00863278 Phase 4 Kligman's Trio
41 Treatment w/ Tri-Luma® Cream & Intense Pulsed Light (IPL) vs a Mild Inactive Control Cream & Intense Pulsed Light (IPL) in Melasma Terminated NCT00669071 Phase 4 Fluocinolone acetonide 0.01%, hydroquinone 4%, tretinoin 0.05%;Cetaphil® Moisturizing Cream as Inactive Control
42 Topical Bimatoprost Solution 0.03%in Stable Vitiligo Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
43 Efficacy of Tacrolimus in Adults With Facial Non-segmental Vitiligo - VITAC Unknown status NCT02466997 Phase 3 tacrolimus;Placebo
44 Azelaic Acid Iontophoresis Versus Topical Azelaic Acid Cream in the Treatment of Melasma Unknown status NCT00848458 Phase 2, Phase 3
45 Virus Early Transcription Factor (VETF) Multicenter Phototherapy Protocol Unknown status NCT00525395 Phase 3
46 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
47 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3 liposomal T4N5 lotion
48 Evaluation of Pigmented Skin Lesions With MelaFind(R) System Completed NCT00434057 Phase 3
49 Epidermal Cell Transplantation in Vitiligo Skin Completed NCT01629979 Phase 2, Phase 3
50 Vitiligo Skin Transplantation Completed NCT00830713 Phase 3

Search NIH Clinical Center for Pigmentation Disease

Genetic Tests for Pigmentation Disease

Anatomical Context for Pigmentation Disease

MalaCards organs/tissues related to Pigmentation Disease:

41
Skin, Testes, Eye, Pancreas, Bone, Lymph Node, Breast

Publications for Pigmentation Disease

Articles related to Pigmentation Disease:

# Title Authors Year
1
Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes. ( 29904107 )
2018
2
Nevus of ota"- a rare pigmentation disorder with intraoral findings. ( 25302286 )
2014
3
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. ( 24300644 )
2013
4
Mitogen-activated protein/extracellular signal-regulated kinase kinase inhibition results in biphasic alteration of epidermal homeostasis with keratinocytic apoptosis and pigmentation disorders. ( 20103661 )
2010
5
The use of botanical extracts as topical skin-lightening agents for the improvement of skin pigmentation disorders. ( 18369335 )
2008
6
[Factors affecting melanogenesis and methods used for identification of pigmentation disorders]. ( 18942345 )
2008

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 response to organic substance GO:0010033 9.54 INS PKM UGT1A1
2 pigmentation GO:0043473 9.48 MITF TYR
3 acute-phase response GO:0006953 9.46 INS UGT1A1
4 regulation of Notch signaling pathway GO:0008593 9.43 POFUT1 POGLUT1
5 liver development GO:0001889 9.43 ADA PKM UGT1A1
6 cellular glucuronidation GO:0052695 9.4 UGT1A1 UGT1A6
7 negative regulation of apoptotic process GO:0043066 9.35 ADA ADAR FGFR3 INS MITF
8 xenobiotic glucuronidation GO:0052697 9.32 UGT1A1 UGT1A6
9 flavonoid glucuronidation GO:0052696 9.16 UGT1A1 UGT1A6
10 metabolic process GO:0008152 9.02 AGPAT2 PKM TYR UGT1A1 UGT1A6

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.7 AGPAT2 FGFR3 PKM POFUT1 POGLUT1 UGT1A1
2 glucuronosyltransferase activity GO:0015020 9.37 UGT1A1 UGT1A6
3 retinoic acid binding GO:0001972 9.32 UGT1A1 UGT1A6
4 UDP-glycosyltransferase activity GO:0008194 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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