KERSEB
MCID: KRT036
MIFTS: 45

Keratosis, Seborrheic, Somatic (KERSEB) malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis, Seborrheic, Somatic

Aliases & Descriptions for Keratosis, Seborrheic, Somatic:

Name: Keratosis, Seborrheic, Somatic 54 13
Seborrheic Keratosis 12 50 52 14 69
Keratosis, Seborrheic 50 66 29 42
Keratosis Seborrheica 50
Basal Cell Papilloma 50
Kerseb 66

Characteristics:

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
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 folliculitis and vulvar 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 Downstream signaling events of B Cell Receptor (BCR) and Development ERBB-family signaling. The drugs Pharmaceutical Solutions and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and growth/size/body region

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

UniProtKB/Swiss-Prot : 66 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.

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 87)
id Related Disease Score Top Affiliating Genes
1 folliculitis 30.0 FGFR3 MTOR PIK3CA
2 vulvar seborrheic keratosis 12.2
3 inflamed seborrheic keratosis 12.2
4 inverted follicular keratosis 11.8
5 melanoacanthoma 11.3
6 clear cell acanthoma 11.3
7 actinic keratosis 11.3
8 keratosis 11.0
9 basal cell carcinoma 10.5
10 melanoma 10.5
11 squamous cell carcinoma 10.4
12 melanocytic nevus syndrome, congenital, somatic 10.3 FGFR3 PIK3CA
13 paraneoplastic cerebellar degeneration 10.2 MTOR PIK3CA
14 craniodiaphyseal dysplasia, autosomal dominant 10.2 KRT10 KRT17
15 anal margin basal cell carcinoma 10.2 KRT10 KRT17
16 superficial basal cell carcinoma 10.1 CLEC2A KRT17
17 verruciform xanthoma of skin 10.1 PIK3CA TP53
18 dowling-degos disease 1 10.1 KRT10 KRT5
19 brachydactyly small stature face anomalies 10.1 KRT10 KRT17
20 mixed cell adenoma 10.1 KRT10 KRT17 KRT5
21 hemorrhagic proctocolitis 10.1 MTOR PIK3CA
22 type 1 papillary adenoma of the kidney 10.1 FGFR3 TP53
23 ichthyosis histrix, curth-macklin type 10.1 KRT10 KRT17 KRT5
24 clear cell hidradenoma 10.1 FGFR3 TP53
25 basaloid squamous cell carcinoma 10.1 KRT10 KRT5
26 spiradenoma 10.1 FGFR3 TP53
27 intraocular retinoblastoma 10.1 KRT10 KRT17 KRT5
28 epidermodysplasia verruciformis 10.1
29 epidermolysis bullosa simplex, recessive 1 10.1 FGFR3 KRT5 RBP1
30 sclerosing breast papilloma 10.1 KRT5 PIK3CA TP53
31 choriocarcinoma of ovary 10.1 KRT5 TP53
32 dermis tumor 10.0 CLEC2A TP53
33 mediastinum synovial sarcoma 10.0 MTOR PIK3CA TP53
34 bowen's disease 10.0
35 gigantism 10.0
36 acanthoma 10.0
37 nodular cutaneous amyloidosis 10.0 KRT10 KRT5 TP53
38 progesterone-receptor negative breast cancer 10.0 MTOR PIK3CA TP53
39 small intestine leiomyoma 10.0 KRT17 KRT5 TP53
40 ebola hemorrhagic fever 10.0 KRT10 KRT17 KRT5 MTOR
41 placenta praevia 10.0 FGFR3 PIK3CA TP53
42 estrogen-receptor positive breast cancer 10.0 KRT17 KRT5 TP53
43 pyomyositis 10.0 KRT17 KRT5 TP53
44 orchitis 10.0 KRT10 KRT17 TP53
45 distal arthrogryposis 10.0 KRT10 KRT17 KRT5 OSMR
46 portal vein thrombosis 9.9 MCM2 SALL1
47 cutaneous ganglioneuroma 9.9
48 psoriasis 9.9
49 dowling-degos disease 9.9
50 lichen planus 9.9

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 by clinical synopsis from OMIM:

182000

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 TGFB2 FGFR3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.89 PIK3CA TGFB2 FGFR3 MTOR
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 TGFB2 KRT17
15 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.85 TGFB2 MTOR
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 PIK3CA MTOR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.85 KRT17 PIK3CA
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 PIK3CA TGFB2 KRT17 MTOR
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 PIK3CA KRT17
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 TGFB2 MTOR
36 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.85 MTOR

MGI Mouse Phenotypes related to Keratosis, Seborrheic, Somatic:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.14 SALL1 TGFB2 TP53 FGFR3 KRT17 KRT5
2 behavior/neurological MP:0005386 10.08 OSMR PIK3CA SALL1 TP53 FGFR3 KRT5
3 digestive/alimentary MP:0005381 10 FGFR3 KRT17 KRT5 MCM2 SALL1 TGFB2
4 endocrine/exocrine gland MP:0005379 9.98 MCM2 MTOR OSMR PIK3CA RBP1 TGFB2
5 immune system MP:0005387 9.92 FGFR3 MCM2 MTOR OSMR PIK3CA RBP1
6 adipose tissue MP:0005375 9.89 MCM2 MTOR OSMR PIK3CA TP53
7 integument MP:0010771 9.8 FGFR3 KRT17 KRT5 MCM2 OSMR PIK3CA
8 hearing/vestibular/ear MP:0005377 9.77 FGFR3 RBP1 SALL1 TGFB2 TP53
9 nervous system MP:0003631 9.76 FGFR3 MCM2 MTOR PIK3CA RBP1 SALL1
10 no phenotypic analysis MP:0003012 9.5 FGFR3 KRT17 KRT5 MTOR OSMR PIK3CA
11 pigmentation MP:0001186 8.92 KRT17 MCM2 RBP1 TP53

Drugs & Therapeutics for Keratosis, Seborrheic, Somatic

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
2
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
5
Hydrogen peroxide Phase 2 7722-84-1 784
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 51-43-4 5816
12
Lidocaine Approved, Vet_approved 137-58-6 3676
13 Anesthetics
14 Epinephryl borate
15 Racepinephrine

Interventional clinical trials:

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

Search 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:

66 (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:

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 FGFR3 MTOR PIK3CA TP53
2
Show member pathways
12.28 MTOR PIK3CA TGFB2 TP53
3 12.25 FGFR3 MTOR PIK3CA TGFB2 TP53
4
Show member pathways
12.23 FGFR3 MTOR PIK3CA TP53
5
Show member pathways
12.13 FGFR3 MTOR PIK3CA TP53
6 12.09 FGFR3 MTOR OSMR PIK3CA TP53
7
Show member pathways
12.02 MTOR PIK3CA TGFB2 TP53
8
Show member pathways
11.99 MTOR OSMR PIK3CA
9
Show member pathways
11.96 FGFR3 MTOR TP53
10
Show member pathways
11.94 MTOR PIK3CA TP53
11 11.93 MTOR PIK3CA TGFB2 TP53
12
Show member pathways
11.89 MTOR PIK3CA TP53
13 11.86 MTOR PIK3CA TP53
14
Show member pathways
11.83 PIK3CA TGFB2 TP53
15 11.83 FGFR3 MTOR PIK3CA TGFB2 TP53
16 11.74 MTOR PIK3CA TP53
17 11.52 KRT17 KRT5 TP53
18 10.74 FGFR3 MTOR PIK3CA TP53

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 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 cell cycle arrest GO:0007050 9.58 MTOR TGFB2 TP53
2 cornification GO:0070268 9.5 KRT10 KRT17 KRT5
3 hair follicle morphogenesis GO:0031069 9.43 KRT17 TGFB2
4 embryonic digestive tract development GO:0048566 9.37 SALL1 TGFB2
5 negative regulation of macroautophagy GO:0016242 9.26 MTOR PIK3CA
6 anoikis GO:0043276 9.16 MTOR PIK3CA
7 heart valve morphogenesis GO:0003179 8.96 MTOR TGFB2
8 phosphatidylinositol-mediated signaling GO:0048015 8.92 FGFR3 MTOR PIK3CA TP53

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....