Aliases & Classifications for Pigmentation Disease

MalaCards integrated aliases for Pigmentation Disease:

Name: Pigmentation Disease 12 15 17
Pigmentation Disorders 54 70
Abnormality of Pigmentation 6
Skin Pigmentation Disorder 70

Classifications:



External Ids:

Disease Ontology 12 DOID:10123
ICD9CM 34 709.09
ICD10 32 L81 L81.8 L81.9
UMLS 70 C0375489 C0549567 C1704421

Summaries for Pigmentation Disease

Disease Ontology : 12 A skin disease that is characterized by discoloration of the skin.

MalaCards based summary : Pigmentation Disease, also known as pigmentation disorders, is related to dowling-degos disease and reticulate acropigmentation of kitamura, and has symptoms including muscle weakness, polydipsia and pruritus. An important gene associated with Pigmentation Disease is MTX2 (Metaxin 2), and among its related pathways/superpathways are Biosynthesis of cofactors and Glucose / Energy Metabolism. The drugs Aldesleukin and Tacrolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and pituitary, and related phenotypes are endocrine/exocrine gland and integument

Related Diseases for Pigmentation Disease

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

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 dowling-degos disease 31.7 POGLUT1 POFUT1 ADAR
2 reticulate acropigmentation of kitamura 31.7 POGLUT1 POFUT1 ADAR
3 dowling-degos disease 1 30.8 TYR MITF KIT IKBKG FGFR3
4 piebald trait 30.4 TYR MITF KIT
5 ochronosis 30.2 TYR MITF
6 skin disease 30.0 TYR MITF KIT INS FGFR3 ADAR
7 pigmentation anomaly of the skin 11.4
8 hypomelanosis of ito 11.2
9 dyschromatosis symmetrica hereditaria 10.9
10 pigmentary disorder, reticulate, with systemic manifestations, x-linked 10.9
11 dyschromatosis universalis hereditaria 10.9
12 hypopigmentation of eyelid 10.9
13 neonatal jaundice 10.9
14 retroperitoneal hemangiopericytoma 10.4 KIT INS
15 immunodeficiency without anhidrotic ectodermal dysplasia 10.4 IKBKG G6PD
16 melanoma, cutaneous malignant 8 10.4 TYR MITF
17 epithelioid cell melanoma 10.4 TYR MITF
18 epicardium cancer 10.4 UGT1A8 UGT1A1
19 cutaneous ganglioneuroma 10.4 MITF KIT
20 malignant spindle cell melanoma 10.4 TYR MITF KIT
21 nodular malignant melanoma 10.4 TYR MITF KIT
22 waardenburg syndrome, type 4b 10.4 TYR MITF KIT
23 tietz albinism-deafness syndrome 10.4 TYR MITF KIT
24 gallbladder melanoma 10.4 MITF G6PD
25 ectodermal dysplasia and immunodeficiency 1 10.4 IKBKG G6PD
26 melanoma in congenital melanocytic nevus 10.4 TYR MITF KIT
27 angiomyolipoma 10.4 TYR MITF KIT
28 clear cell sarcoma 10.4 TYR MITF KIT
29 cervical keratinizing squamous cell carcinoma 10.4 SHBG ADAR
30 neurilemmoma 10.4 TYR MITF KIT
31 neurofibroma 10.4 TYR MITF KIT
32 ocular albinism with congenital sensorineural deafness 10.3 TYR MITF
33 tylosis with esophageal cancer 10.3 MIR376A1 INS ADAR
34 thiopurines, poor metabolism of, 1 10.3 UGT1A8 UGT1A6 UGT1A1
35 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 10.3 UGT1A8 UGT1A6 UGT1A1
36 bilirubin, serum level of, quantitative trait locus 1 10.3 UGT1A8 UGT1A6 UGT1A1
37 lipodystrophy, familial partial, type 1 10.3 BSCL2 AGPAT2
38 dihydropyrimidine dehydrogenase deficiency 10.3 UGT1A8 UGT1A6 UGT1A1
39 adiposis dolorosa 10.3 BSCL2 AGPAT2
40 waardenburg's syndrome 10.3 TYR MITF KIT
41 crigler-najjar syndrome, type i 10.3 UGT1A8 UGT1A6 UGT1A1
42 crigler-najjar syndrome, type ii 10.3 UGT1A8 UGT1A6 UGT1A1
43 berardinelli-seip congenital lipodystrophy 10.3 BSCL2 AGPAT2
44 lipodystrophy, congenital generalized, type 4 10.3 BSCL2 AGPAT2
45 lipodystrophy, congenital generalized, type 3 10.3 BSCL2 AGPAT2
46 complete generalized lipodystrophy 10.3 INS BSCL2 AGPAT2
47 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.3 INS BSCL2 AGPAT2
48 lipodystrophy, congenital generalized, type 1 10.3 BSCL2 AGPAT2
49 donohue syndrome 10.3 INS BSCL2 AGPAT2
50 hyperbilirubinemia, transient familial neonatal 10.3 UGT1A8 UGT1A6 UGT1A1

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:


muscle weakness; polydipsia; pruritus; exanthema

MGI Mouse Phenotypes related to Pigmentation Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.02 AGPAT2 BSCL2 IKBKG INS KIT MITF
2 integument MP:0010771 9.97 AGPAT2 BSCL2 FGFR3 IKBKG INS KIT
3 limbs/digits/tail MP:0005371 9.8 AGPAT2 BSCL2 FGFR3 KIT MITF POFUT1
4 mortality/aging MP:0010768 9.8 ADAR AGPAT2 BSCL2 FGFR3 G6PD IKBKG
5 liver/biliary system MP:0005370 9.76 ADAR AGPAT2 BSCL2 IKBKG INS KIT
6 no phenotypic analysis MP:0003012 9.17 BSCL2 FGFR3 INS KIT MITF PKM

Drugs & Therapeutics for Pigmentation Disease

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 3 110942-02-4, 85898-30-2
2
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
3 Pharmaceutical Solutions Phase 3
4 Anti-Retroviral Agents Phase 3
5 Anti-Infective Agents Phase 3
6 Antiviral Agents Phase 3
7 Anti-HIV Agents Phase 3
8 Interleukin-2 Phase 3
9 Immunosuppressive Agents Phase 2, Phase 3
10 Immunologic Factors Phase 2, Phase 3
11 Calcineurin Inhibitors Phase 2, Phase 3
12
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
13
Hydroquinone Approved, Investigational Phase 2 123-31-9 785
14
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538 444795
15 Triamcinolone hexacetonide Phase 2
16 Triamcinolone diacetate Phase 2
17 triamcinolone acetonide Phase 2
18
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
19
Imidacloprid Vet_approved 105827-78-9 86418
20 Chlorhexidine gluconate
21 Antioxidants
22 Protective Agents
23 Carotenoids

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Evaluation of Pigmented Skin Lesions With MelaFind(R) System Completed NCT00434057 Phase 3
2 Pre-Treatment of Highly Suspicious Pigmented Skin Lesions With Interleukin-2 Recruiting NCT03233828 Phase 3
3 Maintenance Treatment of Non Segmental Vitiligo With Tacrolimus Ointment 0.1% Versus Control, Randomized and Double Blind Study Terminated NCT01841008 Phase 2, Phase 3 Protopic;Placebo : Diprobase
4 Non-ablative 1,550 nm Fractional Laser Therapy Versus Triple Topical Therapy for the Treatment of Melasma: a Randomized Controlled Split-face Study Completed NCT01085279 Phase 2 Modified Kligman's formula (Triple topical therapy)
5 Ablative Fractional Laser Therapy as Treatment for Becker's Nevus; a Pilot Study Completed NCT01083498 Phase 2
6 Pilot Study to Determine the Feasibility and Functionality of fPAM Imaging for the in Vivo Depth Measurement of Pigmented Lesions and Melanoma Depth Completed NCT02613325 Phase 1
7 A Proof of Concept Cases Series on the Use of the Epidermal Expansion System to Harvest and Place Suction Blister Epidermal Grafts on Hypopigmented Skin and Surgical Wounds Unknown status NCT01590329
8 A Single-Center Open-Label Study of 1064 nm Nd:YAG for Nonablative Skin Rejuvenation Unknown status NCT03421691
9 Dermoscopy Evaluation of Pigmented Skin Lesions by a Neuronal Network Clinical Decision Support: an Open Prospective Non Interventional Study Unknown status NCT03362138
10 A Single-Center Prospective, Open-Label Study of the Excel V 532 nm KTP Laser for the Treatment of Poikiloderma of Civatte Completed NCT01491620
11 Evaluation of a New Dermal Cryotherapy System for the Treatment of Benign Pigmented Lesions Completed NCT02848742
12 A Clinical Evaluation of a Novel Multi-Wavelength Laser for Benign Pigmented Lesion Removal Completed NCT02635880
13 A Pilot Study to Evaluate the Correlation Between Modified Two Layer Diffuse Optical Spectroscopy With the Clinical and Histological Examinations of Pigmented Skin Lesions Based on Physiological Parameters Completed NCT00633516
14 MelaFind Evaluations for Patients With Multiple Nevi Completed NCT01700101
15 A Study on the Effectiveness and Safety Evaluation of Combination Therapy With 1,927nm Thulium Laser and Fractional Microneedle Radiofrequency Equipment for Improvement of Skin Aging Completed NCT03739398
16 Non-invasive Imaging Modalities for Assessment of Normal and Lesional Skin Recruiting NCT00764920
17 Evaluation of the Improvement of Pigmented Skin Lesions in Patients With Mastocytosis After Performing 2 Sessions of Pigment Laser : Pilot Study Conducted at a Reference Centre Mastocytoses (LaserMasto) Recruiting NCT04377828
18 A Multi-center Sample Collection Study in Patients With Suspected Melanoma Utilizing DermTech's Non-invasive Adhesive Patch Biopsy Kits Recruiting NCT04550000
19 Macular Pigment Measurements in Eye & Other Tissues Recruiting NCT03022773
20 Pilot Study of Imaging Human Skin With High-Speed Spectrally Encoded Confocal Microscopy Not yet recruiting NCT04566302

Search NIH Clinical Center for Pigmentation Disease

Genetic Tests for Pigmentation Disease

Anatomical Context for Pigmentation Disease

MalaCards organs/tissues related to Pigmentation Disease:

40
Skin, Eye, Pituitary, Endothelial, Thyroid

Publications for Pigmentation Disease

Articles related to Pigmentation Disease:

(show top 50) (show all 271)
# Title Authors PMID Year
1
Hair depigmentation is a biological readout for pharmacological inhibition of KIT in mice and humans. 61 54
12966161 2003
2
Mutations at critical N-glycosylation sites reduce tyrosinase activity by altering folding and quality control. 54 61
10713140 2000
3
Close association between sequence polymorphism in the KIT gene and the roan coat color in horses. 61 54
10051325 1999
4
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). 61 54
9546825 1998
5
Genetic Causes of Oculocutaneous Albinism in Pakistani Population. 61
33800529 2021
6
Evaluating the respective weights of some facial signs on perceived ages in differently aged women of five ethnic origins. 61
32649786 2021
7
Dermatology outpatient clinic outcomes after COVID-19 outbreak: What is new normal? 61
33724616 2021
8
Association between skin disorders and depression in children and adolescents: A retrospective case-control study. 61
33601738 2021
9
The Aqueous Extract of Polypodium leucotomos (Fernblock®) Regulates Opsin 3 and Prevents Photooxidation of Melanin Precursors on Skin Cells Exposed to Blue Light Emitted from Digital Devices. 61
33800784 2021
10
Inhibitory activity and mechanism of trilobatin on tyrosinase: kinetics, interaction mechanism and molecular docking. 61
33625428 2021
11
LATS1 Is a Mediator of Melanogenesis in Response to Oxidative Stress and Regulator of Melanoma Growth. 61
33803640 2021
12
Oral Manifestations in Melanoma Patients Treated with Target or Immunomodulatory Therapies. 61
33808846 2021
13
The Hull of Ripe Pistachio Nuts (Pistacia vera L.) as a Source of New Promising Melanogenesis Inhibitors. 61
33635514 2021
14
Skin photoaging in young men: a clinical study by skin imaging techniques. 61
33728691 2021
15
Changes in the eye contour signs due to age among Mexican women: Comparison with women of other ethnic origins. 61
32940363 2021
16
Congenital Malformations in Sea Turtles: Puzzling Interplay between Genes and Environment. 61
33567785 2021
17
SAR and QSAR research on tyrosinase inhibitors using machine learning methods. 61
33517778 2021
18
Minocycline Impact on Redox Homeostasis of Normal Human Melanocytes HEMn-LP Exposed to UVA Radiation and Hydrogen Peroxide. 61
33561995 2021
19
New topical tranexamic acid derivative for the improvement of hyperpigmentation and inflammation in the sun-damaged skin. 61
32588531 2021
20
The GTPase-activating protein-related domain of neurofibromin interacts with MC1R and regulates pigmentation-mediated signaling in human melanocytes. 61
33187641 2021
21
The Safety of Medicinal Plants Used in the Treatment of Vitiligo and Hypermelanosis: A Systematic Review of Use and Reports of Harm. 61
33790609 2021
22
Xanthones for melanogenesis inhibition: Molecular docking and QSAR studies to understand their anti-tyrosinase activity. 61
33242700 2021
23
A New Insight into the Potential Role of Tryptophan-Derived AhR Ligands in Skin Physiological and Pathological Processes. 61
33499346 2021
24
[Curative treatment with lasers can improve skin pigmentation disorders]. 61
33231706 2020
25
Identification of the ceRNA networks in α-MSH-induced melanogenesis of melanocytes. 61
33318297 2020
26
Synthesis of calix[4]azacrown substituted sulphonamides with antioxidant, acetylcholinesterase, butyrylcholinesterase, tyrosinase and carbonic anhydrase inhibitory action. 61
32401067 2020
27
Soluble Pearl Extract provides effective skin lightening by antagonizing endothelin. 61
33355986 2020
28
Sulphonamides incorporating 1,3,5-triazine structural motifs show antioxidant, acetylcholinesterase, butyrylcholinesterase, and tyrosinase inhibitory profile. 61
31899985 2020
29
[Topical treatment of pigmentation disorders with cosmetic and pharmaceutical agents]. 61
33146766 2020
30
[Treatment of pigmentation disorders in association with systemic diseases]. 61
33201325 2020
31
[Laser treatment of pigmentation disorders]. 61
33159249 2020
32
Milk Protein-Derived Antioxidant Tetrapeptides as Potential Hypopigmenting Agents. 61
33182801 2020
33
Knowledge about and attitude toward cosmeceuticals among pharmacists in Saudi Arabia. 61
32162468 2020
34
Anti-Melanogenesis Effects of Lotus Seedpod In Vitro and In Vivo. 61
33218008 2020
35
Melanocytes derived from mouse hair follicles: A novel study model to assess pigmentation disorders. 61
33027751 2020
36
Changes in facial signs due to age and their respective weights on the perception of age and skin plumpness among differently aged Korean women. 61
33165995 2020
37
Changes in facial signs due to age and their respective weights on the perception of age, on a tired-look or a healthy glow among differently aged Chinese men. 61
32643159 2020
38
Antioxidant, Antimicrobial, and Bioactive Potential of Two New Haloarchaeal Strains Isolated from Odiel Salterns (Southwest Spain). 61
32962162 2020
39
A Series of Benzylidenes Linked to Hydrazine-1-carbothioamide as Tyrosinase Inhibitors: Synthesis, Biological Evaluation and Structure-Activity Relationship. 61
32478439 2020
40
Formulation of Sunscreens for Optimal Efficacy. 61
33022204 2020
41
Plasma sublimation for the treatment of xanthelasma palpebrarum. 61
32566950 2020
42
Catamenial Hyperpigmentation: A Review. 61
32884614 2020
43
Expression and distribution of bone morphogenetic protein 4 and its antagonist Noggin in the skin of Kazakh sheep (Ovis aries) with a white and brown coat color. 61
32331775 2020
44
Regulation of Wnt Signaling through Ubiquitination and Deubiquitination in Cancers. 61
32486158 2020
45
Review of the pathology underlying benign paroxysmal positional vertigo. 61
31885315 2020
46
Cistanche deserticola polysaccharide induces melanogenesis in melanocytes and reduces oxidative stress via activating NRF2/HO-1 pathway. 61
32096914 2020
47
Nicastrin Deficiency Induces Tyrosinase-Dependent Depigmentation and Skin Inflammation. 61
31437444 2020
48
Essential Role for Integrin-Linked Kinase in Melanoblast Colonization of the Skin. 61
31330146 2020
49
Nanoliposomes encapsulation of enriched phenolic fraction from pistachio hulls and its antioxidant, anti-inflammatory, and anti-melanogenic activities. 61
31714165 2020
50
JNK suppresses melanogenesis by interfering with CREB-regulated transcription coactivator 3-dependent MITF expression. 61
32226536 2020

Variations for Pigmentation Disease

ClinVar genetic disease variations for Pigmentation Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTX2 NM_006554.5(MTX2):c.293_294CT[1] (p.Ser98_Leu99insTer) Microsatellite Pathogenic 827676 GRCh37: 2:177193027-177193028
GRCh38: 2:176328299-176328300
2 POMC NM_000939.4(POMC):c.599_604dup (p.Gln202_Ala203insArgAla) Duplication Uncertain significance 420163 rs762710034 GRCh37: 2:25384149-25384150
GRCh38: 2:25161280-25161281
3 POMC NM_000939.4(POMC):c.26C>T (p.Ser9Leu) SNV Uncertain significance 983342 GRCh37: 2:25387616-25387616
GRCh38: 2:25164747-25164747

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 9.23 UGT1A8 UGT1A6 UGT1A1 POGLUT1 POFUT1 FGFR3

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

# Name GO ID Score Top Affiliating Genes
1 glucose metabolic process GO:0006006 9.61 PKM INS G6PD
2 pigmentation GO:0043473 9.54 TYR MITF KIT
3 negative regulation of lipid catabolic process GO:0050995 9.46 INS BSCL2
4 cellular glucuronidation GO:0052695 9.43 UGT1A8 UGT1A6 UGT1A1
5 flavone metabolic process GO:0051552 9.4 UGT1A8 UGT1A1
6 xenobiotic glucuronidation GO:0052697 9.33 UGT1A8 UGT1A6 UGT1A1
7 negative regulation of steroid metabolic process GO:0045939 9.32 UGT1A8 UGT1A1
8 flavonoid glucuronidation GO:0052696 9.13 UGT1A8 UGT1A6 UGT1A1
9 negative regulation of fatty acid metabolic process GO:0045922 8.8 UGT1A8 UGT1A1 INS

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10.06 UGT1A8 UGT1A6 UGT1A1 POGLUT1 POFUT1 PKM
2 transferase activity, transferring glycosyl groups GO:0016757 9.55 UGT1A8 UGT1A6 UGT1A1 POGLUT1 POFUT1
3 steroid binding GO:0005496 9.54 UGT1A8 UGT1A1 SHBG
4 glucuronosyltransferase activity GO:0015020 9.5 UGT1A8 UGT1A6 UGT1A1
5 retinoic acid binding GO:0001972 9.43 UGT1A8 UGT1A6 UGT1A1
6 protein homodimerization activity GO:0042803 9.17 UGT1A8 UGT1A6 UGT1A1 TYR KIT IKBKG
7 UDP-glycosyltransferase activity GO:0008194 9.13 UGT1A8 UGT1A6 UGT1A1

Sources for Pigmentation Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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