KERSEB
MCID: KRT071
MIFTS: 50

Keratosis, Seborrheic (KERSEB)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratosis, Seborrheic

MalaCards integrated aliases for Keratosis, Seborrheic:

Name: Keratosis, Seborrheic 58 77 54 76 30 6 45 41
Seborrheic Keratosis 12 54 56 15 17 74
Keratosis, Seborrheic, Somatic 58 13
Keratosis Seborrheica 54
Basal Cell Papilloma 54
Kerseb 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant form


HPO:

33
keratosis, seborrheic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:6498
OMIM 58 182000
ICD9CM 36 702.1
MeSH 45 D017492
NCIt 51 C9006
SNOMED-CT 69 25499005 50563003
ICD10 34 L82 L82.1
MedGen 43 C0022603
SNOMED-CT via HPO 70 263681008 30285000 57019003
UMLS 74 C0022603

Summaries for Keratosis, Seborrheic

NIH Rare Diseases : 54 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 inverted follicular keratosis and vulvar seborrheic keratosis. 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 Gastric cancer and Glioma. The drugs Hydrogen peroxide and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are verrucae and Decreased shRNA abundance (Z-score < -2)

OMIM : 58 Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body. (182000)

UniProtKB/Swiss-Prot : 76 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 : 77 A seborrheic keratosis is a non-cancerous (benign) skin tumour that originates from cells in the outer... more...

Related Diseases for Keratosis, Seborrheic

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

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 inverted follicular keratosis 33.0 CLEC2A KRT17 MTOR
2 vulvar seborrheic keratosis 32.2 CDKN2A MTOR
3 keratosis 31.4 FGFR3 KRT10 PIK3CA
4 bowen's disease 30.9 KRT10 KRT17
5 acanthoma 30.8 KRT10 KRT17
6 nevus, epidermal 30.7 FGFR3 KRT10 PIK3CA
7 dowling-degos disease 1 30.5 FGFR3 KRT5
8 in situ carcinoma 30.4 CDKN2A KRT17 KRT5
9 eccrine acrospiroma 30.4 KRT10 KRT17
10 verrucous carcinoma 30.0 CDKN2A KRT10
11 epidermolytic hyperkeratosis 30.0 KRT10 KRT17 KRT5
12 papilloma 29.8 CDKN2A FGFR3 KRT10 KRT5
13 inflamed seborrheic keratosis 12.5
14 epidermodysplasia verruciformis 1 11.6
15 melanoacanthoma 11.6
16 clear cell acanthoma 11.6
17 squamous cell carcinoma 10.6
18 squamous cell carcinoma of the oral tongue 10.3 KRT10 PIK3CA
19 pancreatic neuroendocrine tumor 10.3 MTOR PIK3CA
20 malignant spiradenoma 10.3 KRT5 PIK3CA
21 clear cell adenofibroma 10.3 MTOR PIK3CA
22 hemimegalencephaly 10.3 MTOR PIK3CA
23 skin carcinoma 10.3
24 epidermolysis bullosa simplex with mottled pigmentation 10.3 KRT10 KRT5
25 malignant biphasic mesothelioma 10.3 KRT10 KRT5
26 ovarian clear cell adenocarcinoma 10.2 MTOR PIK3CA
27 breast adenomyoepithelioma 10.2 KRT5 PIK3CA
28 breast myoepithelial neoplasm 10.2 KRT5 PIK3CA
29 gastric squamous cell carcinoma 10.2 KRT10 KRT5
30 mycobacterium malmoense 10.2 CD1A CD1E
31 basal cell carcinoma, infundibulocystic 10.2 KRT10 KRT17
32 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.2
33 keratomalacia 10.2
34 acute motor and sensory axonal neuropathy 10.2
35 dermatosis papulosa nigra 10.2 FGFR3 MTOR PIK3CA
36 steatocystoma multiplex 10.2 KRT10 KRT17
37 renal cell carcinoma, papillary, 1 10.2 FGFR3 MTOR PIK3CA
38 multifocal motor neuropathy 10.2 CD1A CD1E
39 malignant atrophic papulosis 10.2
40 dowling-degos disease 10.2
41 cutaneous ganglioneuroma 10.2
42 adenocarcinoma 10.2
43 merkel cell carcinoma 10.2
44 ganglioneuroma 10.2
45 psoriasis 10.2
46 lichen planus 10.2
47 epidermolysis bullosa simplex, dowling-meara type 10.2 KRT10 KRT5
48 malignant acrospiroma 10.2 CLEC2A KRT5
49 anal squamous cell carcinoma 10.2 CDKN2A PIK3CA
50 breast squamous cell carcinoma 10.2 KRT10 KRT5 PIK3CA

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

Human phenotypes related to Keratosis, Seborrheic:

33
# Description HPO Frequency HPO Source Accession
1 verrucae 33 HP:0200043

Symptoms via clinical synopsis from OMIM:

58
Skin:
seborrheic keratoses
congenital seborrheic verrucae

Clinical features from OMIM:

182000

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

27 (show all 44)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 10.06 FGFR3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.06 TGFB2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 10.06 TGFB2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.06 MTOR
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.06 PIK3CA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.06 TGFB2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.06 MTOR PIK3CA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 10.06 FGFR3 TGFB2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.06 FGFR3 MTOR PIK3CA TGFB2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.06 TGFB2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 10.06 TGFB2
12 Decreased viability GR00055-A-2 9.93 MTOR PIK3CA
13 Decreased viability GR00221-A-1 9.93 CDKN2A FGFR3 MTOR PIK3CA
14 Decreased viability GR00221-A-2 9.93 FGFR3 PIK3CA
15 Decreased viability GR00221-A-3 9.93 CDKN2A FGFR3
16 Decreased viability GR00221-A-4 9.93 CDKN2A MTOR PIK3CA
17 Decreased viability GR00342-S-1 9.93 MTOR
18 Decreased viability GR00342-S-2 9.93 MTOR
19 Decreased viability GR00402-S-2 9.93 CDKN2A FGFR3 MTOR PIK3CA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 MTOR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.87 KRT17 TGFB2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.87 MTOR TGFB2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.87 TGFB2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.87 PIK3CA
25 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.87 TGFB2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.87 TGFB2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.87 PIK3CA
28 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.87 MTOR PIK3CA
29 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.87 KRT17 PIK3CA
30 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.87 KRT17
31 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.87 PIK3CA
32 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.87 KRT17
33 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.87 PIK3CA
34 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.87 KRT17 TGFB2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.87 KRT17
36 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.87 KRT17
37 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.87 TGFB2
38 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.87 KRT17 MTOR PIK3CA TGFB2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.87 KRT17
40 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.87 KRT17
41 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.87 KRT17 PIK3CA
42 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.87 TGFB2
43 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 MTOR TGFB2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 MTOR

MGI Mouse Phenotypes related to Keratosis, Seborrheic:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.17 CDKN2A FGFR3 KRT17 KRT5 MAGED1 MTOR

Drugs & Therapeutics for Keratosis, Seborrheic

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrogen peroxide Approved, Vet_approved Phase 4,Phase 2 7722-84-1 784
2 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
3
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
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 46835353 6436030 5284616
6 Antifungal Agents Phase 1, Phase 2
7 Immunologic Factors Phase 1, Phase 2
8 Antibiotics, Antitubercular Phase 1, Phase 2
9 Anti-Bacterial Agents Phase 1, Phase 2
10 Anti-Infective Agents Phase 1, Phase 2
11 Immunosuppressive Agents Phase 1, Phase 2
12
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
13
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
14
Racepinephrine Approved Not Applicable 329-65-7 838
15 Anesthetics Not Applicable
16 Epinephryl borate Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 An A Study Assessing Subject Satisfaction With A-101 Topical Solution for Seborrheic Keratoses Completed 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 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
6 Dose-Response Profile of A-101 in Subjects With Seborrheic Keratosis Completed NCT02160626 Phase 2 A-101 Vehicle;A-101 (40) Topical Solution;A-101 (32.5) Topical Solution
7 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
8 A Randomized, Vehicle-Controlled Study of 2 Concentrations of A-101 for the Treatment of Seborrheic Keratosis Completed NCT03148691 Phase 2 A-101
9 Study of A-101 for the Treatment of Seborrheic Keratosis Completed NCT02260180 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 Nano-Pulse Stimulation (NPS) in Seborrheic Keratosis Study Completed NCT03846531 Not Applicable
13 Is Cryosurgery or Curettage More Effective at Treating Seborrheic Keratoses? Completed NCT01159860 Not Applicable
14 Dermatosis Papulosa Nigra Completed NCT00710203 Not Applicable
15 Optical Biopsy of Human Skin in Conjunction With Laser Treatment Completed NCT00540566
16 Analysis of Melanocytes (Pigment Cells) in Sun-Exposed Skin Completed NCT00875381
17 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 30 PIK3CA

Anatomical Context for Keratosis, Seborrheic

MalaCards organs/tissues related to Keratosis, Seborrheic:

42
Skin

Publications for Keratosis, Seborrheic

Articles related to Keratosis, Seborrheic:

(show top 50) (show all 51)
# Title Authors Year
1
Endoscopic Submucosal Dissection of Seborrheic Keratosis-Like Lesion of the Esophagus: A New Entity? ( 30632124 )
2019
2
The Many Faces of Seborrheic Keratosis. ( 30846163 )
2019
3
Ki-67 and p16 Immunostaining Differentiates Pagetoid Bowen Disease From "Microclonal" Seborrheic Keratosis. ( 30852607 )
2019
4
Verrucous melanoma masquerading as a seborrheic keratosis. ( 30865414 )
2019
5
Seborrheic keratosis-like lesions localized to tattoo. ( 30891479 )
2019
6
Secondary Ossification Associated with Seborrheic Keratosis Adjacent to Basal Cell Carcinoma. ( 30078887 )
2018
7
Differentiation of seborrheic keratosis from basal cell carcinoma, nevi and melanoma by RGB autofluorescence imaging. ( 29675324 )
2018
8
Collision tumor: pigmented Bowen's disease and seborrheic keratosis. ( 30156629 )
2018
9
An Unusual Childhood "Mole": Pigmented Basal Cell Cancer Mimicking Macular Seborrheic Keratosis. ( 28978228 )
2018
10
Two cases of seborrheic keratosis of the external ear canal: involvement of PIK3CA and FGFR3 genes. ( 29485181 )
2018
11
The status of the seborrheic keratosis. ( 29566932 )
2018
12
Merkel cell carcinoma with seborrheic keratosis: A unique association. ( 29567894 )
2018
13
Ex vivo evaluation of cytotoxicity and melanocyte viability after A-101 hydrogen peroxide topical solution 40% or cryosurgery treatment in seborrheic keratosis lesions. ( 29601933 )
2018
14
Distinguishing between irritated seborrheic keratosis and squamous cell carcinoma in situ using BCL-2 and IMP3 immunohistochemistry. ( 29726030 )
2018
15
Managing Seborrheic Keratosis: Evolving Strategies and Optimal Therapeutic Outcomes. ( 30235378 )
2018
16
Giant perianal Seborrheic keratosis: A case report. ( 30243263 )
2018
17
Porocarcinoma with hidroacanthoma simplex-like features in association with seborrheic keratosis. ( 28468734 )
2017
18
Clonal Seborrheic Keratosis Versus Pagetoid Bowen Disease: Histopathology and Role of Adjunctive Markers. ( 28475506 )
2017
19
Erratum to: Increasing Frequency of Seborrheic Keratosis Diagnoses as a Favorable Consequence of Teledermatology-Based Skin Cancer Screening: A Cross-sectional Study of 34,553 Patients. ( 28488240 )
2017
20
Sebaceoma associated with seborrheic keratosis. ( 28730249 )
2017
21
Irritated Subtype of Seborrheic Keratosis in the External Auditory Canal. ( 29069875 )
2017
22
Dermoscopy Improves the Diagnostic Accuracy of Melanomas Clinically Resembling Seborrheic Keratosis: Cross-Sectional Study of the Ability to Detect Seborrheic Keratosis-Like Melanomas by a Group of Dermatologists with Varying Degrees of Experience. ( 29502116 )
2017
23
Giant seborrheic keratosis of the genitalia with an unusual histopathological finding. ( 30148273 )
2017
24
Clinical study of a retinoic acid-loaded microneedle patch for seborrheic keratosis or senile lentigo. ( 26757104 )
2017
25
Intraepidermal proliferation of Merkel cells within a seborrheic keratosis: Merkel cell carcinoma in situ or Merkel cell hyperplasia? ( 28105724 )
2017
26
The role of immunosuppression in squamous cell carcinomas arising in seborrheic keratosis. ( 28162852 )
2017
27
Seborrheic keratosis arising on an epidermal nevus with HRAS p.G13R mutation. ( 28247919 )
2017
28
Dermoscopic Clues for Diagnosing Melanomas That Resemble Seborrheic Keratosis. ( 28355453 )
2017
29
Seborrheic keratosis with basal clear cells: Report of a case and review of the literature. ( 28401581 )
2017
30
Dermoscopy-pathology relationship in seborrheic keratosis. ( 28447350 )
2017
31
Squamous Cell Carcinoma in-situ and Basal Cell Carcinoma Arising From Seborrheic Keratosis in the Same Patient. ( 26955160 )
2016
32
Classification of the Seborrheic Keratosis. ( 26353851 )
2016
33
Further Advances in the Classification of the Seborrheic Keratosis. ( 26721306 )
2016
34
Sustained Akt Activity Is Required to Maintain Cell Viability in Seborrheic Keratosis, a Benign Epithelial Tumor. ( 26739095 )
2016
35
Unusual Dermoscopic Patterns of Seborrheic Keratosis. ( 26812275 )
2016
36
Pigmented eccrine poroma of the palm clinically mimicking a seborrheic keratosis. ( 27222880 )
2016
37
Diclofenac gel may be a new treatment option for seborrheic keratosis. ( 27294065 )
2016
38
Pigmented seborrheic keratosis showing starburst pattern. ( 27317533 )
2016
39
Dermatofibroma simulating seborrheic keratosis dermoscopically. ( 27438205 )
2016
40
Cutaneous horn masquerading as a seborrheic keratosis. ( 29503929 )
2016
41
Basal cell carcinoma showing surface hyperkeratosis clinically mimicking seborrheic keratosis. ( 26365209 )
2015
42
Basal Cell Carcinoma and Seborrheic Keratosis: When Opposites Attract. ( 26135529 )
2015
43
Dermoscopic features of hidroacanthoma simplex: Usefulness in distinguishing it from Bowen's disease and seborrheic keratosis. ( 25989988 )
2015
44
Dermoscopy of clonal seborrheic keratosis. ( 26183995 )
2015
45
Extraocular sebaceous carcinoma in association with a clonal seborrheic keratosis: Dermoscopic features. ( 26248863 )
2015
46
Invasive Squamous Cell Carcinoma With Clear Cell Change of the Eyelid Arising in a Seborrheic Keratosis. ( 26426916 )
2015
47
Management of benign skin lesions commonly affecting the face: actinic keratosis, seborrheic keratosis, and rosacea. ( 19465852 )
2009
48
Verruciform xanthoma-like phenomenon in seborrheic keratosis. ( 16640546 )
2006
49
A comparison of dermoscopic features among lentigo senilis/initial seborrheic keratosis, seborrheic keratosis, lentigo maligna and lentigo maligna melanoma on the face. ( 15729860 )
2004
50
Image analysis for quantification of nucleolar organizer regions in basal cell carcinoma and seborrheic keratosis. ( 27326718 )
1995

Variations for Keratosis, Seborrheic

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

76 (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

Cosmic variations for Keratosis, Seborrheic:

9
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM43920 TP53 skin,face,other,keratosis c.680C>T p.S227F 17:7674283-7674283 0
2 COSM44673 TP53 skin,face,other,keratosis c.284C>T p.S95F 17:7676085-7676085 0
3 COSM43861 TP53 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 0
4 COSM10722 TP53 skin,face,other,keratosis c.853G>A p.E285K 17:7673767-7673767 0
5 COSM44672 TP53 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 0
6 COSM484 HRAS skin,chest,other,keratosis c.35G>A p.G12D 11:534288-534288 0

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 8.8 KRT10 KRT17 KRT5

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.67 FGFR3 MTOR PIK3CA
2 cell cycle arrest GO:0007050 9.61 CDKN2A MTOR TGFB2
3 cornification GO:0070268 9.54 KRT10 KRT17 KRT5
4 hair follicle morphogenesis GO:0031069 9.48 KRT17 TGFB2
5 positive regulation of T cell mediated cytotoxicity GO:0001916 9.46 CD1A CD1E
6 negative regulation of macroautophagy GO:0016242 9.4 MTOR PIK3CA
7 anoikis GO:0043276 9.32 MTOR PIK3CA
8 somatic stem cell division GO:0048103 9.26 CDKN2A TGFB2
9 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.16 CD1A CD1E
10 heart valve morphogenesis GO:0003179 8.96 MTOR TGFB2
11 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 8.62 CD1A CD1E

Molecular functions related to Keratosis, Seborrheic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipopeptide binding GO:0071723 9.16 CD1A CD1E
2 endogenous lipid antigen binding GO:0030883 8.96 CD1A CD1E
3 exogenous lipid antigen binding GO:0030884 8.62 CD1A CD1E

Sources for Keratosis, Seborrheic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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