MCID: KRT071
MIFTS: 46

Keratosis, Seborrheic

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis, Seborrheic

MalaCards integrated aliases for Keratosis, Seborrheic:

Name: Keratosis, Seborrheic 57 76 53 75 29 6 44 40
Seborrheic Keratosis 12 53 55 15 73
Keratosis, Seborrheic, Somatic 57 13
Keratosis Seborrheica 53
Basal Cell Papilloma 53
Kerseb 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
keratosis, seborrheic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 182000
Disease Ontology 12 DOID:6498
ICD10 33 L82 L82.1
ICD9CM 35 702.1
MeSH 44 D017492
NCIt 50 C9006
MedGen 42 C0022603
SNOMED-CT via HPO 69 263681008 30285000 57019003
UMLS 73 C0022603

Summaries for Keratosis, Seborrheic

NIH Rare Diseases : 53 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.

MalaCards based summary : Keratosis, Seborrheic, also known as seborrheic keratosis, is related to keratosis and papilloma. An important gene associated with Keratosis, Seborrheic is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Developmental Biology and Pathways in cancer. The drugs Pharmaceutical Solutions and Hydrogen peroxide have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are verrucae and Increased shRNA abundance (Z-score > 2)

OMIM : 57 Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body. (182000)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 A seborrheic keratosis, also known as seborrheic verruca, basal cell papilloma, or a senile wart, is a... more...

Related Diseases for Keratosis, Seborrheic

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 keratosis 31.3 FGFR3 KRT10 PIK3CA
2 papilloma 30.0 FGFR3 KRT10 KRT5
3 keratoacanthoma 29.3 KRT10 KRT17 RBP1
4 vulvar seborrheic keratosis 11.1
5 pancreatic neuroendocrine tumor 10.7 MTOR PIK3CA
6 squamous cell carcinoma of the oral tongue 10.6 KRT10 PIK3CA
7 nevus, epidermal 10.6 FGFR3 PIK3CA
8 malignant spiradenoma 10.6 KRT5 PIK3CA
9 hemimegalencephaly 10.6 MTOR PIK3CA
10 epidermolysis bullosa simplex with mottled pigmentation 10.5 KRT10 KRT5
11 basal cell carcinoma, infundibulocystic 10.5 KRT10 KRT17
12 steatocystoma multiplex 10.5 KRT10 KRT17
13 clear cell adenofibroma 10.5 MTOR PIK3CA
14 bowen's disease 10.5 KRT10 KRT17
15 gastric squamous cell carcinoma 10.5 KRT10 KRT5
16 breast adenomyoepithelioma 10.5 KRT5 PIK3CA
17 malignant biphasic mesothelioma 10.5 KRT10 KRT5
18 breast myoepithelial neoplasm 10.4 KRT5 PIK3CA
19 dermatosis papulosa nigra 10.4 FGFR3 MTOR PIK3CA
20 adenosquamous cell lung carcinoma 10.4 FGFR3 PIK3CA
21 renal cell carcinoma, papillary, 1 10.4 FGFR3 MTOR PIK3CA
22 ovarian clear cell adenocarcinoma 10.4 MTOR PIK3CA
23 prostate squamous cell carcinoma 10.4 KRT5 PIK3CA
24 epidermolysis bullosa simplex, dowling-meara type 10.3 KRT10 KRT5
25 breast squamous cell carcinoma 10.3 KRT10 KRT5 PIK3CA
26 epidermolytic hyperkeratosis 10.1 KRT10 KRT17 KRT5
27 intraneural perineurioma 10.0 KRT10 KRT5
28 inverted follicular keratosis 9.9 KRT17 MTOR SALL1
29 dowling-degos disease 1 9.9 FGFR3 KRT5 RBP1
30 basal cell carcinoma 1 9.9
31 melanoma 9.9
32 basal cell carcinoma 9.9
33 actinic keratosis 9.9
34 rosacea 9.9
35 lentigo maligna melanoma 9.9
36 large cell acanthoma 9.7 KRT10 KRT17 KRT5 MTOR
37 skin disease 9.7 KRT10 KRT17 KRT5
38 lung sarcoma 9.5 KRT5 SALL1
39 primary cutaneous amyloidosis 9.1 KRT10 KRT17 KRT5 OSMR

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


Hypertension, Essential Keratosis

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



Diseases related to Keratosis, Seborrheic

Symptoms & Phenotypes for Keratosis, Seborrheic

Symptoms via clinical synopsis from OMIM:

57
Skin:
seborrheic keratoses
congenital seborrheic verrucae


Clinical features from OMIM:

182000

Human phenotypes related to Keratosis, Seborrheic:

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

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

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 MTOR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.87 KRT17 TGFB2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.87 MTOR TGFB2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.87 TGFB2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.87 PIK3CA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.87 TGFB2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.87 TGFB2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.87 PIK3CA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.87 MTOR PIK3CA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.87 PIK3CA KRT17
11 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.87 KRT17
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.87 PIK3CA
13 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.87 KRT17
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.87 PIK3CA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.87 TGFB2 KRT17
16 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.87 KRT17
17 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.87 KRT17
18 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.87 TGFB2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.87 MTOR PIK3CA TGFB2 KRT17
20 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.87 KRT17
21 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.87 KRT17
22 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.87 KRT17 PIK3CA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.87 TGFB2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 MTOR TGFB2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 MTOR
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.86 FGFR3
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.86 TGFB2
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.86 TGFB2
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.86 MTOR
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.86 PIK3CA
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.86 TGFB2
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.86 MTOR PIK3CA
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.86 FGFR3 TGFB2
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.86 FGFR3 MTOR PIK3CA TGFB2
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.86 TGFB2
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.86 TGFB2

MGI Mouse Phenotypes related to Keratosis, Seborrheic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 DPH3 FGFR3 KRT17 KRT5 MTOR OSMR
2 immune system MP:0005387 9.86 RBP1 TGFB2 FGFR3 MAGED1 MTOR NOP53
3 mortality/aging MP:0010768 9.81 DPH3 FGFR3 KRT17 KRT5 MTOR NOP53
4 nervous system MP:0003631 9.56 DPH3 FGFR3 MAGED1 MTOR PIK3CA RBP1
5 no phenotypic analysis MP:0003012 9.17 FGFR3 KRT17 KRT5 MAGED1 MTOR OSMR

Drugs & Therapeutics for Keratosis, Seborrheic

Drugs for Keratosis, Seborrheic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
2
Hydrogen peroxide Approved, Vet_approved Phase 2 7722-84-1 784
3
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
5
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
6 Anti-Bacterial Agents Phase 1, Phase 2
7 Antibiotics, Antitubercular Phase 1, Phase 2
8 Antifungal Agents Phase 1, Phase 2
9 Anti-Infective Agents Phase 1, Phase 2
10 Immunosuppressive Agents Phase 1, Phase 2
11
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
12
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
13
Racepinephrine Approved Not Applicable 329-65-7 838
14 Anesthetics Not Applicable
15 Epinephryl borate Not Applicable

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 An A Study Assessing Subject Satisfaction With A-101 Topical Solution for Seborrheic Keratoses Recruiting NCT03487588 Phase 4 A-101 Topical Solution
2 A Study of A-101 Solution 40% in Subjects With Seborrheic Keratosis. Completed NCT02667236 Phase 3 A-101 Solution
3 A Randomized, Double-Blind, Vehicle-Controlled Study in Subjects With Seborrheic Keratosis Completed NCT02667275 Phase 3 A-101 Solution
4 An Open-Label Safety Study of A-101 Solution Completed NCT02667288 Phase 3 A-101 Solution
5 Dose-Response Profile of A-101 in Subjects With Seborrheic Keratosis Unknown status NCT02160626 Phase 2 A-101 Vehicle;A-101 (40) Topical Solution;A-101 (32.5) Topical Solution
6 Study to Evaluate the Safety and Efficacy of PEP005(Ingenol Mebutate) Gel, 0.05%, in Patients With Seborrhoeic Keratosis Completed NCT01214564 Phase 2 PEP005 (ingenol mebutate) Gel
7 Study of A-101 for the Treatment of Seborrheic Keratosis Completed NCT02260180 Phase 2 A-101
8 Study of Safety, Tolerability and Effectiveness of A-101 in Subjects With Seborrheic Keratosis Completed NCT01986920 Phase 1, Phase 2 A-101 25%;A-101 32.5%;A-101 40%;A-101 Vehicle
9 A Randomized, Vehicle-Controlled Study of 2 Concentrations of A-101 for the Treatment of Seborrheic Keratosis Recruiting NCT03148691 Phase 2 A-101
10 Novel Compositions for Treating or Preventing Dermal Disorders Recruiting NCT03103893 Phase 1, Phase 2 Rapamycin
11 In-vivo Optical Coherence Tomography Imaging in Dermatooncology Unknown status NCT01680562
12 Is Cryosurgery or Curettage More Effective at Treating Seborrheic Keratoses? Completed NCT01159860 Not Applicable
13 Dermatosis Papulosa Nigra Completed NCT00710203 Not Applicable
14 Optical Biopsy of Human Skin in Conjunction With Laser Treatment Completed NCT00540566
15 Analysis of Melanocytes (Pigment Cells) in Sun-Exposed Skin Completed NCT00875381
16 Electrocautery vs Q-switch for Seborrheic Keratosis Withdrawn NCT02366559 Not Applicable

Search NIH Clinical Center for Keratosis, Seborrheic

Cochrane evidence based reviews: keratosis, seborrheic

Genetic Tests for Keratosis, Seborrheic

Genetic tests related to Keratosis, Seborrheic:

# Genetic test Affiliating Genes
1 Keratosis, Seborrheic 29 PIK3CA

Anatomical Context for Keratosis, Seborrheic

MalaCards organs/tissues related to Keratosis, Seborrheic:

41
Skin, Liver

Publications for Keratosis, Seborrheic

Articles related to Keratosis, Seborrheic:

# Title Authors Year
1
Management of benign skin lesions commonly affecting the face: actinic keratosis, seborrheic keratosis, and rosacea. ( 19465852 )
2009
2
A comparison of dermoscopic features among lentigo senilis/initial seborrheic keratosis, seborrheic keratosis, lentigo maligna and lentigo maligna melanoma on the face. ( 15729860 )
2004

Variations for Keratosis, Seborrheic

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

75 (show all 11)
# 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:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
2 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
3 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
4 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh38 Chromosome 3, 179218303: 179218303
5 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 NCBI36 Chromosome 3, 180418785: 180418785
6 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh37 Chromosome 4, 1803564: 1803564
7 FGFR3 NM_000142.4(FGFR3): c.742C> T (p.Arg248Cys) single nucleotide variant Pathogenic rs121913482 GRCh38 Chromosome 4, 1801837: 1801837
8 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh37 Chromosome 4, 1803568: 1803568
9 FGFR3 NM_000142.4(FGFR3): c.746C> G (p.Ser249Cys) single nucleotide variant Pathogenic rs121913483 GRCh38 Chromosome 4, 1801841: 1801841

Expression for Keratosis, Seborrheic

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

Pathways for Keratosis, Seborrheic

GO Terms for Keratosis, Seborrheic

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

# 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 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.61 KRT10 KRT17 KRT5
2 positive regulation of protein kinase B signaling GO:0051897 9.54 FGFR3 MTOR PIK3CA
3 cornification GO:0070268 9.43 KRT10 KRT17 KRT5
4 hair follicle morphogenesis GO:0031069 9.4 KRT17 TGFB2
5 embryonic digestive tract development GO:0048566 9.32 SALL1 TGFB2
6 negative regulation of macroautophagy GO:0016242 9.16 MTOR PIK3CA
7 anoikis GO:0043276 8.96 MTOR PIK3CA
8 heart valve morphogenesis GO:0003179 8.62 MTOR TGFB2

Sources for Keratosis, Seborrheic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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