MCID: KRT036
MIFTS: 38

Keratosis, Seborrheic, Somatic malady

Genetic diseases, Rare diseases categories

Summaries for Keratosis, Seborrheic, Somatic

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OMIM:47 Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body. (182000) more...

MalaCards based summary: Keratosis, Seborrheic, Somatic, also known as seborrheic keratosis, is related to melanoma and basal cell carcinoma, and has symptoms including autosomal dominant inheritanceand verrucae. An important gene associated with Keratosis, Seborrheic, Somatic is PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha), and among its related pathways are Ras signaling pathway and MicroRNAs in cancer. The compounds imatinib and phosphotyrosine have been mentioned in the context of this disorder. Related mouse phenotype tumorigenesis.

Aliases & Classifications for Keratosis, Seborrheic, Somatic

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Keratosis, Seborrheic, Somatic, Aliases & Descriptions:

Name: Keratosis, Seborrheic, Somatic 47 11
Seborrheic Keratosis 10 12 45
Keratosis, Seborrheic 47 43
 
Keratosis Seborrheica 43
Seborrheic Keratoses 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Keratosis, Seborrheic, Somatic

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Graphical network of the top 20 diseases related to Keratosis, Seborrheic, Somatic:



Diseases related to keratosis, seborrheic, somatic

Symptoms for Keratosis, Seborrheic, Somatic

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Symptoms by clinical synopsis from OMIM:

182000

Clinical features from OMIM:

182000

HPO human phenotypes related to Keratosis, Seborrheic, Somatic:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 verrucae HP:0200043

Drugs & Therapeutics for Keratosis, Seborrheic, Somatic

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Drug clinical trials:

Search ClinicalTrials for Keratosis, Seborrheic, Somatic

Search NIH Clinical Center for Keratosis, Seborrheic, Somatic

Genetic Tests for Keratosis, Seborrheic, Somatic

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Anatomical Context for Keratosis, Seborrheic, Somatic

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Animal Models for Keratosis, Seborrheic, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Keratosis, Seborrheic, Somatic:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1FGFR3, PIK3CA

Publications for Keratosis, Seborrheic, Somatic

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Variations for Keratosis, Seborrheic, Somatic

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UniProtKB/Swiss-Prot genetic disease variations for Keratosis, Seborrheic, Somatic:

64 (show all 11)
id Symbol AA change Variation ID SNP ID
1FGFR3p.Arg248CysVAR_004148
2FGFR3p.Ser249CysVAR_004149
3FGFR3p.Gly370CysVAR_004151
4FGFR3p.Ser371CysVAR_004152
5FGFR3p.Tyr373CysVAR_004153
6FGFR3p.Lys650GluVAR_004160
7FGFR3p.Lys650MetVAR_004161
8PIK3CAp.Glu542LysVAR_026173
9PIK3CAp.Glu545GlyVAR_026177
10PIK3CAp.Glu545LysVAR_026178
11PIK3CAp.His1047ArgVAR_026192

Clinvar genetic disease variations for Keratosis, Seborrheic, Somatic:

7
id Gene Variation Type Significance SNP ID Assembly Location
1PIK3CANM_006218.2(PIK3CA): c.3140A> G (p.His1047Arg)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
2PIK3CANM_006218.2(PIK3CA): c.1633G> A (p.Glu545Lys)single nucleotide variantPathogenicrs104886003GRCh37Chr 3, 178936091: 178936091
3FGFR3NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys)single nucleotide variantPathogenicrs121913482GRCh37Chr 4, 1803564: 1803564
4FGFR3NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys)single nucleotide variantPathogenicrs121913483GRCh37Chr 4, 1803568: 1803568

Expression for genes affiliated with Keratosis, Seborrheic, Somatic

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Search GEO for disease gene expression data for Keratosis, Seborrheic, Somatic.

Pathways for genes affiliated with Keratosis, Seborrheic, Somatic

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Pathways related to Keratosis, Seborrheic, Somatic according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1FGFR3, PIK3CA
29.1FGFR3, PIK3CA
39.1PIK3CA, FGFR3
49.1FGFR3, PIK3CA
5
Show member pathways
9.1FGFR3, PIK3CA
6
Show member pathways
9.1FGFR3, PIK3CA
7
Show member pathways
9.1FGFR3, PIK3CA
8
Show member pathways
9.1PIK3CA, FGFR3
9
Show member pathways
9.1FGFR3, PIK3CA
10
Show member pathways
9.1FGFR3, PIK3CA
11
Show member pathways
9.1PIK3CA, FGFR3
12
Show member pathways
9.1FGFR3, PIK3CA
13
Show member pathways
9.1FGFR3, PIK3CA
14
Show member pathways
Signaling Pathways in Glioblastoma38
9.1FGFR3, PIK3CA
15
Show member pathways
9.1FGFR3, PIK3CA

Compounds for genes affiliated with Keratosis, Seborrheic, Somatic

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Sources:
45Novoseek, 51PharmGKB, 13DrugBank, 30IUPHAR, 26HMDB
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Compounds related to Keratosis, Seborrheic, Somatic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1imatinib45 51 1311.4FGFR3, PIK3CA
2phosphotyrosine459.3FGFR3, PIK3CA
3doxorubicin45 51 1311.3PIK3CA, FGFR3
4dexamethasone45 51 30 1312.3FGFR3, PIK3CA
5vegf459.2FGFR3, PIK3CA
6arginine459.2PIK3CA, FGFR3
7threonine459.1FGFR3, PIK3CA
8Adenosine triphosphate26 1310.1FGFR3, PIK3CA
9glutamate459.0FGFR3, PIK3CA
10adp45 30 2610.8FGFR3, PIK3CA

GO Terms for genes affiliated with Keratosis, Seborrheic, Somatic

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Biological processes related to Keratosis, Seborrheic, Somatic according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-mediated signalingGO:00480159.3FGFR3, PIK3CA
2insulin receptor signaling pathwayGO:00082869.2FGFR3, PIK3CA
3fibroblast growth factor receptor signaling pathwayGO:00085439.2FGFR3, PIK3CA
4Fc-epsilon receptor signaling pathwayGO:00380959.1PIK3CA, FGFR3
5innate immune responseGO:00450879.1FGFR3, PIK3CA
6epidermal growth factor receptor signaling pathwayGO:00071739.0FGFR3, PIK3CA
7neurotrophin TRK receptor signaling pathwayGO:00480118.8FGFR3, PIK3CA

Products for genes affiliated with Keratosis, Seborrheic, Somatic

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  • Antibodies
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Sources for Keratosis, Seborrheic, Somatic

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet