Aliases & Classifications for Pigmentation Disease

MalaCards integrated aliases for Pigmentation Disease:

Name: Pigmentation Disease 12 14
Pigmentation Disorders 51 69
Abnormality of Skin Pigmentation 28
Skin Pigmentation Disorder 69

Classifications:



External Ids:

Disease Ontology 12 DOID:10123
ICD9CM 34 709.09
ICD10 32 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 neonatal jaundice, and has symptoms including pruritus, exanthema and muscle weakness. 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 Epinephrine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include skin, 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 36)
# Related Disease Score Top Affiliating Genes
1 reticulate acropigmentation of kitamura 31.2 ADAR POFUT1
2 neonatal jaundice 30.8 SLCO1B1 UGT1A1
3 dyschromatosis symmetrica hereditaria 30.6 ADA ADAR MITF TYR
4 dowling-degos disease 30.2 ADAR POFUT1 POGLUT1 TYR
5 hypomelanosis of ito 11.1
6 vitiligo-associated multiple autoimmune disease susceptibility 1 10.9
7 dyschromatosis universalis hereditaria 10.6
8 legius syndrome 10.5
9 crigler-najjar syndrome, type ii 10.4 UGT1A1 UGT1A6
10 skin/hair/eye pigmentation, variation in, 3 10.4 MITF TYR
11 albinism, ocular, with sensorineural deafness 10.4 MITF TYR
12 pigmented basal cell carcinoma 10.4 MITF TYR
13 epithelioid cell melanoma 10.4 MITF TYR
14 descending colon cancer 10.4 UGT1A1 UGT1A6
15 malignant spindle cell melanoma 10.4 MITF TYR
16 breast angiosarcoma 10.4 MITF TYR
17 tietz albinism-deafness syndrome 10.3 MITF TYR
18 dihydropyrimidine dehydrogenase deficiency 10.3 UGT1A1 UGT1A6
19 crigler-najjar syndrome, type i 10.3 UGT1A1 UGT1A6
20 hermansky-pudlak syndrome 3 10.3 MITF TYR
21 early onset absence epilepsy 10.2 ADA ADAR
22 lentigines 10.2 MITF TYR
23 acetaminophen metabolism 10.2 UGT1A1 UGT1A6
24 inherited metabolic disorder 10.2 INS UGT1A1 UGT1A6
25 kernicterus 10.2 PKM UGT1A1 UGT1A6
26 irinotecan toxicity 10.2 SLCO1B1 UGT1A1
27 familial partial lipodystrophy 10.1 AGPAT2 INS
28 glucosephosphate dehydrogenase deficiency 10.1 SLCO1B1 UGT1A1
29 ocular albinism 10.1 MITF TYR
30 dowling-degos disease 1 10.1 FGFR3 MITF TYR
31 congenital generalized lipodystrophy 10.1 AGPAT2 INS
32 gilbert syndrome 10.0 SLCO1B1 UGT1A1 UGT1A6
33 acanthosis nigricans 10.0 FGFR3 INS
34 angiomyolipoma 9.9 MITF TYR
35 pigmented villonodular synovitis 9.9
36 bilirubin metabolic disorder 9.7 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:


pruritus, exanthema, muscle weakness, polydipsia

MGI Mouse Phenotypes related to Pigmentation Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 ADA MITF ADAR AGPAT2 POFUT1 FGFR3
2 embryo MP:0005380 9.98 MITF ADAR POFUT1 POGLUT1 TYR INS
3 endocrine/exocrine gland MP:0005379 9.95 ADA MITF AGPAT2 POFUT1 POGLUT1 INS
4 immune system MP:0005387 9.92 INS ADA MITF ADAR AGPAT2 POFUT1
5 integument MP:0010771 9.8 MITF ADAR AGPAT2 POFUT1 FGFR3 TYR
6 mortality/aging MP:0010768 9.65 ADA MITF ADAR PKM AGPAT2 POFUT1
7 limbs/digits/tail MP:0005371 9.55 MITF AGPAT2 POFUT1 FGFR3 TYR
8 skeleton MP:0005390 9.23 MITF ADAR AGPAT2 POFUT1 FGFR3 TYR

Drugs & Therapeutics for Pigmentation Disease

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

(show top 50) (show all 240)
# 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,Not Applicable 137-58-6 3676
3
Prilocaine Approved Phase 4,Not Applicable 721-50-6 4906
4 Racepinephrine Approved Phase 4 329-65-7
5
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
6
Hydroquinone Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 123-31-9 785
7
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable,Early Phase 1 22916-47-8 4189
8
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 104987-11-3 445643 439492
9
Pimecrolimus Approved, Investigational Phase 4,Phase 2 137071-32-0 17753757 6447131
10
Azelaic acid Approved Phase 4,Phase 2,Phase 3 123-99-9 2266
11
Metformin Approved Phase 4 657-24-9 4091 14219
12
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
13
Tetracaine Approved, Vet_approved Phase 4,Not Applicable 94-24-6 5411
14
Desonide Approved, Investigational Phase 4 638-94-8 5311066
15
Avobenzone Approved, Investigational Phase 4 70356-09-1
16
Benzophenone Approved Phase 4 119-61-9 3102
17
Iron Approved Phase 4,Phase 1,Phase 2 7439-89-6 23925
18
Oxybenzone Approved Phase 4 131-57-7 4632
19 Titanium dioxide Approved Phase 4 13463-67-7
20
Zinc Approved, Investigational Phase 4,Phase 2,Phase 1 7440-66-6 32051 23994
21
Zinc oxide Approved Phase 4,Phase 2 1314-13-2
22
Acetylcholine Approved Phase 4 51-84-3 187
23
Salicylic acid Approved, Investigational, Vet_approved Phase 4,Not Applicable,Early Phase 1 69-72-7 338
24
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4,Phase 2 67-73-2 6215
25
Glycolic acid Approved, Investigational Phase 4,Not Applicable,Early Phase 1 79-14-1 757
26
Ethanol Approved Phase 4,Not Applicable 64-17-5 702
27
Imiquimod Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 99011-02-6 57469
28
Fluorouracil Approved Phase 4 51-21-8 3385
29
Aminolevulinic acid Approved Phase 4 106-60-5 137
30
Benzoyl peroxide Approved Phase 4 94-36-0 7187
31
Tretinoin Approved, Investigational, Nutraceutical Phase 4,Phase 2,Phase 3,Early Phase 1 302-79-4 5538
32
Vitamin C Approved, Nutraceutical Phase 4,Not Applicable 50-81-7 54670067 5785
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Early Phase 1,Not Applicable 59-30-3 6037
34
Niacin Approved, Investigational, Nutraceutical Phase 4,Early Phase 1,Not Applicable 59-67-6 938
35
Nicotinamide Approved, Investigational, Nutraceutical Phase 4,Early Phase 1,Not Applicable 98-92-0 936
36 Anti-Allergic Agents Phase 4,Not Applicable
37 Anti-Asthmatic Agents Phase 4,Not Applicable
38 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
39 Autonomic Agents Phase 4,Phase 2,Not Applicable
40 Bronchodilator Agents Phase 4,Not Applicable
41 Dermatologic Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
42
Fluticasone Phase 4,Not Applicable 80474-14-2, 90566-53-3 22833648 62924
43 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
44 Respiratory System Agents Phase 4,Phase 1,Phase 2,Not Applicable
45 Adrenergic Agents Phase 4
46 Adrenergic Agonists Phase 4
47 Adrenergic alpha-Agonists Phase 4
48 Adrenergic beta-Agonists Phase 4
49 Anesthetics Phase 4,Phase 2,Phase 3,Not Applicable
50 Anesthetics, Local Phase 4,Not Applicable

Interventional clinical trials:

(show top 50) (show all 267)

# 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 Efficacy and Safety Study of Finacea to Treat Acne Vulgaris and Post-Inflammatory Hyperpigmentation (PIH) Completed NCT01038869 Phase 4 Azelaic acid
31 Effect of Topical Imiquimod on Lentigo Maligna Completed NCT01161888 Phase 4 Imiquimod
32 Conventional Microneedling vs Microneedling With 5-FU (MMP) for Idiopathic Guttate Hypomelanosis (IGH) Repigmentation Recruiting NCT02904564 Phase 4
33 Effectiveness of Narrow-band Ultraviolet B Combined With Topical Tacrolimus 0.03% in Treatment of Patients With Vitiligo Recruiting NCT03199664 Phase 4
34 Photodynamic Therapy for Lentigo Maligna Using 5-aminolevulinic Acid Nanoemulsion as a Light Sensitizing Cream Recruiting NCT02685592 Phase 4 5-aminolevulinic acid nanoemulsion
35 The Use of Onexton in Moderate Acne Vulgaris for Patients With Skin of Color Active, not recruiting NCT03402893 Phase 4 ONEXTON Topical Gel
36 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
37 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
38 Treatment of Melasma With Stabilized Kligman Preparation Associated or Not With Pulsed Dye Laser Terminated NCT00863278 Phase 4 Kligman's Trio
39 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
40 Topical Bimatoprost Solution 0.03%in Stable Vitiligo Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
41 Efficacy of Tacrolimus in Adults With Facial Non-segmental Vitiligo - VITAC Unknown status NCT02466997 Phase 3 tacrolimus;Placebo
42 Azelaic Acid Iontophoresis Versus Topical Azelaic Acid Cream in the Treatment of Melasma Unknown status NCT00848458 Phase 2, Phase 3
43 Virus Early Transcription Factor (VETF) Multicenter Phototherapy Protocol Unknown status NCT00525395 Phase 3
44 A Multicenter Trial of Non-cultured Epidermal Cellular Grafting Versus Hyaluronic Acid for Repigmenting Stable Leukoderma (Vitiligo and Piebaldism) Unknown status NCT02156427 Phase 3
45 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3 liposomal T4N5 lotion
46 Evaluation of Pigmented Skin Lesions With MelaFind(R) System Completed NCT00434057 Phase 3
47 Epidermal Cell Transplantation in Vitiligo Skin Completed NCT01629979 Phase 2, Phase 3
48 Vitiligo Skin Transplantation Completed NCT00830713 Phase 3
49 Efficacy and Safety of a 4% Hydroquinone Cream (Melanoderm 4%) for the Treatment of Melasma: a Randomized Controlled Split-face Study Completed NCT02095990 Phase 3 Hydroquinone;Placebo
50 Interest of the Dermabrasion by Laser Erbium in the Treatment of the Vitiligo Completed NCT01087216 Phase 2, Phase 3 Bras B : The group control

Search NIH Clinical Center for Pigmentation Disease

Genetic Tests for Pigmentation Disease

Genetic tests related to Pigmentation Disease:

# Genetic test Affiliating Genes
1 Abnormality of Skin Pigmentation 28

Anatomical Context for Pigmentation Disease

MalaCards organs/tissues related to Pigmentation Disease:

38
Skin

Publications for Pigmentation Disease

Articles related to Pigmentation Disease:

# Title Authors Year
1
Nevus of ota"- a rare pigmentation disorder with intraoral findings. ( 25302286 )
2014
2
Biology and genetics of oculocutaneous albinism and vitiligo - common pigmentation disorders in southern Africa. ( 24300644 )
2013
3
Mitogen-activated protein/extracellular signal-regulated kinase kinase inhibition results in biphasic alteration of epidermal homeostasis with keratinocytic apoptosis and pigmentation disorders. ( 20103661 )
2010
4
The use of botanical extracts as topical skin-lightening agents for the improvement of skin pigmentation disorders. ( 18369335 )
2008
5
[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 protein O-linked glycosylation GO:0006493 9.46 POFUT1 POGLUT1
2 pigmentation GO:0043473 9.43 MITF TYR
3 liver development GO:0001889 9.43 ADA PKM UGT1A1
4 acute-phase response GO:0006953 9.4 INS UGT1A1
5 cellular glucuronidation GO:0052695 9.37 UGT1A1 UGT1A6
6 regulation of Notch signaling pathway GO:0008593 9.32 POFUT1 POGLUT1
7 flavonoid glucuronidation GO:0052696 9.16 UGT1A1 UGT1A6
8 metabolic process GO:0008152 9.02 AGPAT2 PKM TYR UGT1A1 UGT1A6
9 xenobiotic glucuronidation GO:0052697 8.96 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 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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