MCID: KRT036
MIFTS: 39

Keratosis, Seborrheic, Somatic

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis, Seborrheic, Somatic

MalaCards integrated aliases for Keratosis, Seborrheic, Somatic:

Name: Keratosis, Seborrheic, Somatic 54 13
Seborrheic Keratosis 12 50 52 14 69
Keratosis, Seborrheic 50 71 29 42
Keratosis Seborrheica 50
Basal Cell Papilloma 50
Kerseb 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant form


HPO:

32
keratosis, seborrheic, somatic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 182000
Disease Ontology 12 DOID:6498
ICD10 33 L82 L82.1
ICD9CM 35 702.1
MeSH 42 D017492
NCIt 47 C9006
MedGen 40 C0022603
SNOMED-CT via HPO 65 263681008 30285000 57019003
UMLS 69 C0022603

Summaries for Keratosis, Seborrheic, Somatic

NIH Rare Diseases : 50 seborrheic keratosis is a benign (non cancerous) tumor found on the skin. seborrheic keratoses are the most common benign tumor in older individuals. they usually appear as multiple small, flat or raised growths that range in color from white to black and are commonly found on the face, neck, chest, shoulders, and hands. they usually do not cause symptoms, but occasionally can itch and rub or catch on clothing, causing irritation. scratching seborrheic keratoses or trying to pick them off the skin can result in a secondary infection. the cause of seborrheic keratosis is not well understood; however, a combination of environmental factors, such as sun exposure and genetic factors may play a role. treatment may not be needed depending on the size and location of the seborrheic keratoses. when treatment is desired, topically applied creams and acids and surgery may be considered. last updated: 2/24/2017

MalaCards based summary : Keratosis, Seborrheic, Somatic, also known as seborrheic keratosis, is related to vulvar seborrheic keratosis and inflamed seborrheic keratosis, and has symptoms including 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/superpathways are Developmental Biology and Development HGF signaling pathway. Affiliated tissues include skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and growth/size/body region

UniProtKB/Swiss-Prot : 71 Keratosis, seborrheic: A common benign skin tumor. Seborrheic keratoses usually begin with the appearance of one or more sharply defined, light brown, flat macules. The lesions may be sparse or numerous. As they initially grow, they develop a velvety to finely verrucous surface, followed by an uneven warty surface with multiple plugged follicles and a dull or lackluster appearance.

OMIM : 54
Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body. (182000)

Related Diseases for Keratosis, Seborrheic, Somatic

Diseases related to Keratosis, Seborrheic, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 79)
id Related Disease Score Top Affiliating Genes
1 vulvar seborrheic keratosis 12.2
2 inflamed seborrheic keratosis 12.2
3 epidermodysplasia verruciformis 11.4
4 inverted follicular keratosis 11.3
5 melanoacanthoma 11.3
6 keratosis 11.0
7 epidermal nevus, somatic 10.7 FGFR3 PIK3CA
8 papular mucinosis 10.6 MTOR PIK3CA
9 lipid-cell variant infiltrating bladder urothelial carcinoma 10.6 KRT5 PIK3CA
10 hemoglobinemia 10.5 MTOR PIK3CA
11 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 10.5 KRT10 PIK3CA
12 basal cell carcinoma 10.5
13 pigmented basal cell carcinoma 10.5 KRT10 KRT17
14 melanoma 10.5
15 penis squamous cell carcinoma 10.4 KRT10 KRT5
16 sclerosteosis 1 10.4 KRT10 KRT17
17 boylan dew greco syndrome 10.4 KRT10 KRT17
18 small intestine leiomyoma 10.4 KRT17 KRT5
19 phototoxic dermatitis 10.4 FGFR3 MTOR PIK3CA
20 squamous cell carcinoma 10.4
21 pneumonia 10.4 KRT10 KRT5
22 malignant peritoneal solitary fibrous tumor 10.3 KRT10 KRT5
23 ovarian endometrioid adenofibroma 10.3 MTOR PIK3CA
24 dmd-related dilated cardiomyopathy 10.3 KRT5 MTOR
25 hemoglobin e disease 10.2 KRT17 TCHH
26 autonomic nervous system neoplasm 10.2 FGFR3 KRT10 KRT5
27 epidermolysis bullosa simplex, koebner type 10.2 KRT10 KRT5
28 epicardium cancer 10.2 KRT10 KRT5
29 ampulla of vater clear cell adenocarcinoma 10.2 MTOR PIK3CA
30 bilateral retinoblastoma 10.1 KRT10 KRT17 KRT5
31 gorham's disease 10.0 FGFR3 PIK3CA
32 acanthoma 10.0
33 actinic keratosis 10.0
34 bowen's disease 10.0
35 gigantism 10.0
36 breast leiomyoma 10.0 FGFR3 KRT10 KRT17 PIK3CA
37 colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 10.0 KRT10 KRT17 TCHH
38 telangiectatic osteogenic sarcoma 10.0 KRT17 MTOR SALL1
39 ganglioneuroma 9.9
40 cutaneous ganglioneuroma 9.9
41 psoriasis 9.9
42 dowling-degos disease 9.9
43 lichen planus 9.9
44 adenocarcinoma 9.9
45 lentigo maligna melanoma 9.9
46 orchitis 9.8 KRT10 KRT17 TCHH
47 acantholytic acanthoma 9.8 KRT10 KRT17 KRT5 MTOR
48 ichthyosis 9.8
49 fibroepithelial basal cell carcinoma 9.8
50 pituitary tumors 9.8

Comorbidity relations with Keratosis, Seborrheic, Somatic via Phenotypic Disease Network (PDN):


Hypertension, Essential Keratosis

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



Diseases related to Keratosis, Seborrheic, Somatic

Symptoms & Phenotypes for Keratosis, Seborrheic, Somatic

Symptoms via clinical synopsis from OMIM:

54

Skin:
seborrheic keratoses
congenital seborrheic verrucae


Clinical features from OMIM:

182000

Human phenotypes related to Keratosis, Seborrheic, Somatic:

32
id Description HPO Frequency HPO Source Accession
1 verrucae 32 HP:0200043

GenomeRNAi Phenotypes related to Keratosis, Seborrheic, Somatic according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.89 FGFR3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.89 PIK3CA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.89 TGFB2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.89 TGFB2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.89 MTOR
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.89 PIK3CA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.89 TGFB2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.89 MTOR PIK3CA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.89 FGFR3 TGFB2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.89 FGFR3 MTOR PIK3CA TGFB2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.89 TGFB2
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.89 TGFB2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.85 MTOR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.85 KRT17 TGFB2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.85 MTOR TGFB2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.85 TGFB2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.85 TGFB2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.85 TGFB2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.85 PIK3CA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.85 MTOR PIK3CA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.85 PIK3CA KRT17
22 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.85 KRT17
23 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.85 PIK3CA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.85 KRT17
25 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.85 PIK3CA
26 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.85 TGFB2 KRT17
27 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.85 KRT17
28 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.85 KRT17
29 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.85 TGFB2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.85 KRT17 MTOR PIK3CA TGFB2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.85 KRT17
32 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.85 KRT17
33 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.85 KRT17 PIK3CA
34 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.85 TGFB2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.85 MTOR TGFB2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.85 MTOR

MGI Mouse Phenotypes related to Keratosis, Seborrheic, Somatic:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.81 FGFR3 KRT17 KRT5 MTOR OSMR PIK3CA
2 immune system MP:0005387 9.5 TGFB2 FGFR3 MAGED1 MTOR OSMR PIK3CA
3 no phenotypic analysis MP:0003012 9.17 FGFR3 KRT17 KRT5 MAGED1 MTOR OSMR

Drugs & Therapeutics for Keratosis, Seborrheic, Somatic

Search Clinical Trials , NIH Clinical Center for Keratosis, Seborrheic, Somatic

Cochrane evidence based reviews: keratosis, seborrheic

Genetic Tests for Keratosis, Seborrheic, Somatic

Genetic tests related to Keratosis, Seborrheic, Somatic:

id Genetic test Affiliating Genes
1 Keratosis, Seborrheic 29

Anatomical Context for Keratosis, Seborrheic, Somatic

MalaCards organs/tissues related to Keratosis, Seborrheic, Somatic:

39
Skin

Publications for Keratosis, Seborrheic, Somatic

Variations for Keratosis, Seborrheic, Somatic

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

71 (show all 11)
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Arg248Cys VAR_004148 rs121913482
2 FGFR3 p.Ser249Cys VAR_004149 rs121913483
3 FGFR3 p.Gly370Cys VAR_004151 rs121913479
4 FGFR3 p.Ser371Cys VAR_004152 rs121913484
5 FGFR3 p.Tyr373Cys VAR_004153 rs121913485
6 FGFR3 p.Lys650Glu VAR_004160 rs78311289
7 FGFR3 p.Lys650Met VAR_004161 rs121913105
8 PIK3CA p.Glu542Lys VAR_026173 rs121913273
9 PIK3CA p.Glu545Gly VAR_026177 rs121913274
10 PIK3CA p.Glu545Lys VAR_026178 rs104886003
11 PIK3CA p.His1047Arg VAR_026192 rs121913279

ClinVar genetic disease variations for Keratosis, Seborrheic, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
2 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
3 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
4 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568

Expression for Keratosis, Seborrheic, Somatic

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

Pathways for Keratosis, Seborrheic, Somatic

Pathways related to Keratosis, Seborrheic, Somatic according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 FGFR3 KRT10 KRT17 KRT5 PIK3CA SALL1
2
Show member pathways
12.4 MAGED1 MTOR PIK3CA TGFB2
3 12.22 FGFR3 MTOR PIK3CA TGFB2
4 12.03 FGFR3 MTOR PIK3CA TGFB2
5
Show member pathways
11.91 KRT10 KRT17 KRT5 TCHH
6
Show member pathways
11.78 MTOR OSMR PIK3CA
7
Show member pathways
10.95 PIK3CA TGFB2
8 10.93 MTOR TGFB2
9 10.91 MTOR PIK3CA
10 10.61 FGFR3 MTOR PIK3CA

GO Terms for Keratosis, Seborrheic, Somatic

Cellular components related to Keratosis, Seborrheic, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.13 KRT10 KRT17 KRT5
2 phosphatidylinositol 3-kinase complex GO:0005942 8.62 MTOR PIK3CA

Biological processes related to Keratosis, Seborrheic, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-mediated signaling GO:0048015 9.54 FGFR3 MTOR PIK3CA
2 hair follicle morphogenesis GO:0031069 9.43 KRT17 TGFB2
3 embryonic digestive tract development GO:0048566 9.4 SALL1 TGFB2
4 negative regulation of macroautophagy GO:0016242 9.32 MTOR PIK3CA
5 anoikis GO:0043276 9.26 MTOR PIK3CA
6 keratinization GO:0031424 9.26 KRT10 KRT17 KRT5 TCHH
7 heart valve morphogenesis GO:0003179 9.16 MTOR TGFB2
8 cornification GO:0070268 8.92 KRT10 KRT17 KRT5 TCHH

Sources for Keratosis, Seborrheic, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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