Summaries for Pigment Disorder

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22MalaCards
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MalaCards: Pigment Disorder, also known as pigmentation disorders, is related to pigmentation disease and microglandular adenosis. An important gene associated with Pigment Disorder is PDR (pigment disorder, reticulate), and among its related pathways are Melanoma and Melanocyte Development and Pigmentation. The compounds ptk787 and zd6474 have been mentioned in the context of this disorder. Related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Aliases & Descriptions for Pigment Disorder

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7diseasecard, 43UMLS
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pigment disorder 7
pigmentation disorders 43

Related Diseases for Pigment Disorder

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13GeneCards, 14GeneDecks
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Diseases related to pigment disorder by text searches and GeneDecks gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1pigmentation disease27.0TYR, MITF, KIT
2microglandular adenosis12.8EGFR, KIT
3ampulla of vater carcinoma12.8KIT, EGFR
4uterine carcinosarcoma12.8EGFR, KIT
5salivary gland cancer12.8KIT, EGFR
6thymic epithelial tumor12.7KIT, EGFR
7kidney clear cell sarcoma12.7KIT, MITF
8adenosquamous carcinoma12.7KIT, EGFR
9thymic carcinoma12.7EGFR, KIT
10piebaldism12.7MITF, KIT
11mast cell neoplasm12.7KIT, MITF
12perivascular epithelioid cell tumor12.7KIT, MITF
13chromophobe renal cell carcinoma12.7EGFR, KIT
14juvenile xanthogranuloma12.5KIT, TYR
15mastocytosis12.4KIT, MITF
16biliary tract cancer12.4EGFR, KIT
17waardenburg syndrome type 212.4MITF, TYR
18posterior uveal melanoma12.4MITF, TYR
19melanoma metastasis12.4MITF, KIT
20nephroblastoma12.3EGFR, KIT
21ocular albinism12.3TYR, MITF
22intraocular melanoma12.2MITF, TYR
23malignant peripheral nerve sheath tumor12.2EGFR, KIT, MITF
24paraganglioma12.1EGFR, KIT
25factor vii deficiency12.0KIT, EGFR, TYR
26neuroendocrine carcinoma12.0EGFR, KIT, TYR
27hyperpigmentation of eyelid12.0MITF, TYR, KIT
28vaginitis12.0EGFR, KIT, TYR
29waardenburg's syndrome11.9KIT, TYR, MITF
30oculocutaneous albinism11.9TYR, MITF, KIT
31neurilemmoma11.9KIT, TYR, MITF
32fibrosarcoma11.9TYR, EGFR, KIT
33albinism11.9KIT, MITF, TYR
34microphthalmia11.9KIT, TYR, MITF
35vitiligo11.9TYR, KIT, MITF
36skin disease11.8TYR, EGFR, MITF
37pertussis11.7MITF, TYR, EGFR
38nasopharyngitis11.6KIT, EGFR, TYR
39carney complex11.4TYR, KIT, MITF, EGFR
40angiomyolipoma11.4KIT, MITF, EGFR, TYR
41neurofibroma11.4TYR, EGFR, KIT, MITF
42nevus11.4EGFR, TYR, KIT, MITF
43cutaneous malignant melanoma11.4MITF, EGFR, TYR, KIT
44retinoblastoma11.4KIT, TYR, EGFR, MITF
45renal cell carcinoma11.3KIT, EGFR, MITF, TYR
46sarcoma11.2KIT, MITF, TYR, EGFR
47retinitis11.1TYR, MITF, KIT, EGFR
48skin pigmentation disorders8.0
49pigment disorder, reticulate6.6
50anterior corneal pigmentation6.1

Graphical network of the top 20 diseases related to pigment disorder:



Graphical network of diseases related to pigment disorder

Clinical Features for Pigment Disorder

Drugs & Therapeutics for Pigment Disorder

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for pigment disorder

Genetic Tests for Pigment Disorder

Anatomical Context for Pigment Disorder

Phenotypes for genes affiliated with Pigment Disorder

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25MGI
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MGI Mouse Phenotypes related to pigment disorder:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1hearing/vestibular/ear phenotypeMP:00053778.5KIT, MITF, EGFR
2pigmentation phenotypeMP:00011868.2TYR, EGFR, MITF, KIT
3limbs/digits/tail phenotypeMP:00053718.2KIT, MITF, EGFR, TYR
4no phenotypic analysisMP:00030128.2TYR, EGFR, MITF, KIT
5vision/eye phenotypeMP:00053918.1MITF, TYR, EGFR, KIT
6skeleton phenotypeMP:00053908.1TYR, EGFR, MITF, KIT
7integument phenotypeMP:00107718.1KIT, EGFR, MITF, TYR
8endocrine/exocrine gland phenotypeMP:00053798.0KIT, TYR, EGFR, MITF
9reproductive system phenotypeMP:00053898.0KIT, EGFR, TYR, MITF
10normal phenotypeMP:00028737.9MITF, EGFR, TYR, KIT

Publications for genes affiliated with Pigment Disorder

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35PubMed
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Articles related to pigment disorder:

idTitleAuthorsYearAffiliating Genes
1Mitogen-activated protein/extracellular signal-regula ted kinase kinase inhibition results in biphasic alteration of epidermal homeos tasis with keratinocytic apoptosis and pigmentation disorders. (20103661)Schad K.... Dummer R.2010EGFR
2Factors affecting melanogenesis and methods used for identification of pigmentation disorders (18942345)Galus R.... WA8odarski K.2008TYR

Expression for genes affiliated with Pigment Disorder

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Pigment Disorder

Pathways for genes affiliated with Pigment Disorder

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20KEGG, 36QIAGEN
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Pathways related to pigment disorder according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1Melanoma209.3EGFR, MITF
2Melanocyte Development and Pigmentation369.0MITF, KIT
3Pathways in cancer208.7KIT, EGFR, MITF
4Melanogenesis208.5TYR, MITF, KIT

Compounds for genes affiliated with Pigment Disorder

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32Novoseek , 9DrugBank, 34PharmGKB, 18HMDB
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Compounds related to pigment disorder according to GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1ptk78732 9.8EGFR, KIT
2zd647432 9.8EGFR, KIT
3everolimus32 9 9 11.8EGFR, KIT
4ag-129632 9.8KIT, EGFR
5su541632 9.8EGFR, KIT
6capecitabine32 34 9 9 12.7EGFR, KIT
7sunitinib32 9 9 11.7KIT, EGFR
8dasatinib32 34 9 9 12.7EGFR, KIT
9erlotinib32 34 9 9 12.7KIT, EGFR
10sorafenib32 9 9 11.6KIT, EGFR
11flavopiridol32 9 9 11.6KIT, EGFR
12trastuzumab32 34 9 9 12.6KIT, EGFR
13irinotecan32 34 9 9 12.5EGFR, KIT
14L-Tyrosine9 18 9 11.5TYR, EGFR
15gefitinib32 34 9 9 12.4KIT, EGFR
16kojic acid32 9.4TYR, MITF
17bcnu32 9.4TYR, EGFR
18dopachrome32 9.4MITF, TYR
19hmba32 9.3TYR, MITF
20docetaxel32 34 9 9 12.1KIT, EGFR
21paclitaxel32 34 9 9 11.9TYR, EGFR, KIT
22doxorubicin32 34 9 9 11.8KIT, EGFR, TYR
23cycloheximide32 8.7EGFR, TYR, KIT
24testosterone32 9 18 9 11.6EGFR, KIT, TYR
25paraffin32 8.4TYR, EGFR, MITF, KIT
26tyrosine32 7.9MITF, KIT, EGFR, TYR

GO Terms for genes affiliated with Pigment Disorder

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12Gene Ontology
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Biological processes related to pigment disorder according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanocyte differentiationGO:0303189.3KIT, MITF

Molecular functions related to pigment disorder according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:0047139.4KIT, EGFR
2receptor signaling protein tyrosine kinase activityGO:0047169.3KIT, EGFR
3transmembrane receptor protein tyrosine kinase activityGO:0047149.1KIT, EGFR

Sources for Pigment Disorder

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS