KERSEB
MCID: KRT071
MIFTS: 52

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 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
SNOMED-CT 68 25499005 50563003
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 inverted follicular keratosis and 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 Developmental Biology and NFAT and Cardiac Hypertrophy. The drugs Hydrogen peroxide and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and lung, and related phenotypes are verrucae and Decreased 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 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 83)
# Related Disease Score Top Affiliating Genes
1 inverted follicular keratosis 33.0 SALL1 MTOR KRT17
2 keratosis 31.2 PIK3CA KRT10 FGFR3
3 bowen's disease 30.7 KRT17 KRT10
4 acanthoma 30.6 KRT17 KRT10
5 nevus, epidermal 30.6 PIK3CA KRT10 FGFR3
6 dowling-degos disease 1 30.1 RBP1 KRT5 FGFR3
7 epidermolytic hyperkeratosis 30.0 KRT5 KRT17 KRT10
8 papilloma 29.9 KRT5 KRT10 FGFR3
9 keratoacanthoma 29.8 RBP1 KRT17 KRT10
10 inflamed seborrheic keratosis 12.5
11 epidermodysplasia verruciformis 11.6
12 melanoacanthoma 11.6
13 clear cell acanthoma 11.6
14 vulvar seborrheic keratosis 11.3
15 squamous cell carcinoma 10.6
16 in situ carcinoma 10.4
17 pancreatic neuroendocrine tumor 10.2 PIK3CA MTOR
18 squamous cell carcinoma of the oral tongue 10.2 PIK3CA KRT10
19 malignant spiradenoma 10.2 PIK3CA KRT5
20 malignant atrophic papulosis 10.2
21 dowling-degos disease 10.2
22 cutaneous ganglioneuroma 10.2
23 adenocarcinoma 10.2
24 merkel cell carcinoma 10.2
25 ganglioneuroma 10.2
26 psoriasis 10.2
27 lichen planus 10.2
28 clear cell adenofibroma 10.2 PIK3CA MTOR
29 epidermolysis bullosa simplex with mottled pigmentation 10.1 KRT5 KRT10
30 hemimegalencephaly 10.1 PIK3CA MTOR
31 malignant biphasic mesothelioma 10.1 KRT5 KRT10
32 basal cell carcinoma, infundibulocystic 10.1 KRT17 KRT10
33 gastric squamous cell carcinoma 10.1 KRT5 KRT10
34 steatocystoma multiplex 10.1 KRT17 KRT10
35 breast myoepithelial neoplasm 10.1 PIK3CA KRT5
36 dermatosis papulosa nigra 10.1 PIK3CA MTOR FGFR3
37 breast adenomyoepithelioma 10.1 PIK3CA KRT5
38 ovarian clear cell adenocarcinoma 10.1 PIK3CA MTOR
39 renal cell carcinoma, papillary, 1 10.1 PIK3CA MTOR FGFR3
40 breast squamous cell carcinoma 10.1 PIK3CA KRT5 KRT10
41 epidermolysis bullosa simplex, dowling-meara type 10.1 KRT5 KRT10
42 adenosquamous lung carcinoma 10.1 FGFR3 PIK3CA
43 intraneural perineurioma 10.0 KRT10 KRT5
44 breast adenoma 10.0 OSMR KRT17
45 autoimmune disease 10.0
46 lentigines 10.0
47 mycosis fungoides 10.0
48 pulmonary alveolar microlithiasis 10.0
49 basal cell carcinoma 1 10.0
50 reticulate acropigmentation of kitamura 10.0

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 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 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 KRT17 TGFB2
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:

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 FGFR3 MAGED1 MTOR NOP53 OSMR PIK3CA
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 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
4
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
5
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
6 Immunosuppressive Agents Phase 1, Phase 2
7 Anti-Infective Agents Phase 1, Phase 2
8 Immunologic Factors Phase 1, Phase 2
9 Antibiotics, Antitubercular Phase 1, Phase 2
10 Antifungal Agents Phase 1, Phase 2
11 Anti-Bacterial Agents Phase 1, Phase 2
12
Lidocaine Approved, Vet_approved Not Applicable 137-58-6 3676
13
Racepinephrine Approved Not Applicable 329-65-7 838
14
Epinephrine Approved, Vet_approved Not Applicable 51-43-4 5816
15 Epinephryl borate Not Applicable
16 Anesthetics 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 Active, not 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 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 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, Lung, Tongue

Publications for Keratosis, Seborrheic

Articles related to Keratosis, Seborrheic:

(show top 50) (show all 58)
# Title Authors Year
1
Differentiation of seborrheic keratosis from basal cell carcinoma, nevi and melanoma by RGB autofluorescence imaging. ( 29675324 )
2018
2
Secondary Ossification Associated with Seborrheic Keratosis Adjacent to Basal Cell Carcinoma. ( 30078887 )
2018
3
Collision tumor: pigmented Bowen's disease and seborrheic keratosis. ( 30156629 )
2018
4
Distinguishing between irritated seborrheic keratosis and squamous cell carcinoma in situ using BCL-2 and IMP3 immunohistochemistry. ( 29726030 )
2018
5
Managing Seborrheic Keratosis: Evolving Strategies and Optimal Therapeutic Outcomes. ( 30235378 )
2018
6
Giant perianal Seborrheic keratosis: A case report. ( 30243263 )
2018
7
An Unusual Childhood "Mole": Pigmented Basal Cell Cancer Mimicking Macular Seborrheic Keratosis. ( 28978228 )
2018
8
Two cases of seborrheic keratosis of the external ear canal: involvement of PIK3CA and FGFR3 genes. ( 29485181 )
2018
9
The status of the seborrheic keratosis. ( 29566932 )
2018
10
Merkel cell carcinoma with seborrheic keratosis: A unique association. ( 29567894 )
2018
11
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
12
Giant seborrheic keratosis of the genitalia with an unusual histopathological finding. ( 30148273 )
2017
13
Clinical study of a retinoic acid-loaded microneedle patch for seborrheic keratosis or senile lentigo. ( 26757104 )
2017
14
Intraepidermal proliferation of Merkel cells within a seborrheic keratosis: Merkel cell carcinoma in situ or Merkel cell hyperplasia? ( 28105724 )
2017
15
The role of immunosuppression in squamous cell carcinomas arising in seborrheic keratosis. ( 28162852 )
2017
16
Seborrheic keratosis arising on an epidermal nevus with HRAS p.G13R mutation. ( 28247919 )
2017
17
Dermoscopic Clues for Diagnosing Melanomas That Resemble Seborrheic Keratosis. ( 28355453 )
2017
18
Seborrheic keratosis with basal clear cells: Report of a case and review of the literature. ( 28401581 )
2017
19
Dermoscopy-pathology relationship in seborrheic keratosis. ( 28447350 )
2017
20
Porocarcinoma with hidroacanthoma simplex-like features in association with seborrheic keratosis. ( 28468734 )
2017
21
Clonal Seborrheic Keratosis Versus Pagetoid Bowen Disease: Histopathology and Role of Adjunctive Markers. ( 28475506 )
2017
22
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
23
Sebaceoma associated with seborrheic keratosis. ( 28730249 )
2017
24
Quantitative comparison of the histological subtypes of seborrheic keratosis using computer-aided image analysis. ( 28741724 )
2017
25
Irritated Subtype of Seborrheic Keratosis in the External Auditory Canal. ( 29069875 )
2017
26
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
27
Squamous Cell Carcinoma in-situ and Basal Cell Carcinoma Arising From Seborrheic Keratosis in the Same Patient. ( 26955160 )
2016
28
Classification of the Seborrheic Keratosis. ( 26353851 )
2016
29
Further Advances in the Classification of the Seborrheic Keratosis. ( 26721306 )
2016
30
Sustained Akt Activity Is Required to Maintain Cell Viability in Seborrheic Keratosis, a Benign Epithelial Tumor. ( 26739095 )
2016
31
Unusual Dermoscopic Patterns of Seborrheic Keratosis. ( 26812275 )
2016
32
Pigmented eccrine poroma of the palm clinically mimicking a seborrheic keratosis. ( 27222880 )
2016
33
Diclofenac gel may be a new treatment option for seborrheic keratosis. ( 27294065 )
2016
34
Pigmented seborrheic keratosis showing starburst pattern. ( 27317533 )
2016
35
Dermatofibroma simulating seborrheic keratosis dermoscopically. ( 27438205 )
2016
36
Cutaneous horn masquerading as a seborrheic keratosis. ( 29503929 )
2016
37
Basal Cell Carcinoma and Seborrheic Keratosis: When Opposites Attract. ( 26135529 )
2015
38
Basal cell carcinoma showing surface hyperkeratosis clinically mimicking seborrheic keratosis. ( 26365209 )
2015
39
Dermoscopic features of hidroacanthoma simplex: Usefulness in distinguishing it from Bowen's disease and seborrheic keratosis. ( 25989988 )
2015
40
Dermoscopy of clonal seborrheic keratosis. ( 26183995 )
2015
41
Extraocular sebaceous carcinoma in association with a clonal seborrheic keratosis: Dermoscopic features. ( 26248863 )
2015
42
Invasive Squamous Cell Carcinoma With Clear Cell Change of the Eyelid Arising in a Seborrheic Keratosis. ( 26426916 )
2015
43
Composite Tumor Associating Trichoblastoma and Seborrheic Keratosis. ( 26512175 )
2015
44
Conjunctival seborrheic keratosis manifesting as squamous carcinoma. ( 23374568 )
2013
45
Management of benign skin lesions commonly affecting the face: actinic keratosis, seborrheic keratosis, and rosacea. ( 19465852 )
2009
46
Verruciform xanthoma-like phenomenon in seborrheic keratosis. ( 16640546 )
2006
47
A comparison of dermoscopic features among lentigo senilis/initial seborrheic keratosis, seborrheic keratosis, lentigo maligna and lentigo maligna melanoma on the face. ( 15729860 )
2004
48
Malignant melanoma arising in a seborrheic keratosis. ( 10775864 )
2000
49
A case of connective tissue nevus associated with seborrheic keratosis-like eruption, atrophic scar, alopecia, and microtia. ( 8854593 )
1996
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:

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

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 17
2 COSM44673 TP53 skin,face,other,keratosis c.284C>T p.S95F 17:7676085-7676085 17
3 COSM43861 TP53 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 17
4 COSM10722 TP53 skin,face,other,keratosis c.853G>A p.E285K 17:7673767-7673767 17
5 COSM44672 TP53 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 17
6 COSM484 HRAS skin,chest,other,keratosis c.35G>A p.G12D 11:534288-534288 17

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 cytoplasm GO:0005737 9.65 DPH3 FGFR3 KRT10 KRT17 KRT5 MAGED1
2 intermediate filament GO:0005882 8.8 KRT10 KRT17 KRT5

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 9.58 FGFR3 MTOR PIK3CA
3 hair follicle morphogenesis GO:0031069 9.37 KRT17 TGFB2
4 cornification GO:0070268 9.33 KRT10 KRT17 KRT5
5 embryonic digestive tract development GO:0048566 9.32 SALL1 TGFB2
6 negative regulation of macroautophagy GO:0016242 9.26 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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