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KERSEB
MCID: KRT071
MIFTS: 58

Keratosis, Seborrheic (KERSEB)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Keratosis, Seborrheic

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MalaCards integrated aliases for Keratosis, Seborrheic:

Name: Keratosis, Seborrheic 56 74 52 73 43 39
Seborrheic Keratosis 12 52 29 54 6 15 17 71
Keratosis, Seborrheic, Somatic 56 13
Keratosis Seborrheica 52
Basal Cell Papilloma 52
Kerseb 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant form


HPO:

31
keratosis, seborrheic:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:6498
OMIM 56 182000
ICD9CM 34 702.1
MeSH 43 D017492
NCIt 49 C9006
SNOMED-CT 67 25499005
ICD10 32 L82
MedGen 41 C0022603
SNOMED-CT via HPO 68 263681008 30285000 57019003
UMLS 71 C0022603
Sources

Summaries for Keratosis, Seborrheic

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NIH Rare Diseases : 52 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 inflamed seborrheic keratosis and melanoacanthoma. 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 Class I MHC mediated antigen processing and presentation and Endometrial cancer. The drugs Hydrogen peroxide and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and breast, and related phenotypes are verrucae and Decreased shRNA abundance (Z-score < -2)

OMIM : 56 Seborrheic keratoses are common benign epidermal lesion that can develop on any part of the body. (182000)

UniProtKB/Swiss-Prot : 73 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 : 74 A seborrheic keratosis is a non-cancerous (benign) skin tumour that originates from cells in the outer... more...

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Related Diseases for Keratosis, Seborrheic

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

(show top 50) (show all 286)
# Related Disease Score Top Affiliating Genes
1 inflamed seborrheic keratosis 34.1 CLEC2A CD1E CD1C CD1B CD1A
2 melanoacanthoma 33.4 MTOR MLANA CLEC2A
3 clear cell acanthoma 33.0 KRT10 IVL CLEC2A BTK
4 vulvar seborrheic keratosis 32.9 MTOR CDKN2A
5 inverted follicular keratosis 31.9 KRT17 CLEC2A
6 bowen's disease 31.4 KRT10 IVL
7 dermatosis papulosa nigra 31.1 PIK3CA MTOR FGFR3
8 nevus, epidermal 31.0 PIK3CA KRT10 IVL FGFR3
9 squamous cell papilloma 31.0 TP53 CDKN2A
10 verruciform xanthoma of skin 30.8 CD1E CD1A
11 eccrine acrospiroma 30.8 KRT5 KRT17 KRT10 CLEC2A
12 sebaceous adenocarcinoma 30.8 TP53 MLANA KRT5
13 lentigo maligna melanoma 30.7 MLANA MC1R
14 skin benign neoplasm 30.7 MLANA KRT5 FGFR3 CLEC2A
15 folliculitis 30.7 CD1E CD1B CD1A
16 inverted transitional papilloma 30.7 KRT5 CDKN2A
17 in situ carcinoma 30.6 TP53 PIK3CA KRT5 KRT17 CDKN2A
18 lichen planus 30.6 TP53 KRT10 IVL CD1A
19 porokeratosis 30.5 TP53 IVL FGFR3
20 papilloma 30.5 TP53 KRT5 KRT10 IVL FGFR3 CDKN2A
21 skin carcinoma 30.5 TP53 MLANA MC1R IVL CDKN2A
22 skin melanoma 30.5 TP53 MLANA MC1R CDKN2A
23 granuloma annulare 30.4 CD1E CD1C CD1B CD1A
24 seborrheic dermatitis 30.4 CD1E CD1C CD1B CD1A
25 verrucous carcinoma 30.4 TP53 KRT5 KRT10 CDKN2A
26 keratoacanthoma 30.3 TP53 KRT17 KRT10 IVL CD1A
27 keratosis 30.2 TP53 PIK3CA KRT5 KRT17 KRT10 IVL
28 clear cell basal cell carcinoma 30.2 TP53 KRT5 KRT17 CLEC2A
29 actinic keratosis 30.1 TP53 MC1R KRT17 CDKN2A
30 squamous cell carcinoma 30.1 TP53 PIK3CA IVL FGFR3 CDKN2A
31 epidermolytic hyperkeratosis 30.1 KRT5 KRT17 KRT10 IVL
32 acanthoma 29.1 TP53 PIK3CA OCM2 MTOR MLANA KRT17
33 basal cell carcinoma 29.0 TP53 MTOR MC1R KRT5 KRT17 KRT10
34 skin disease 28.6 TP53 MC1R KRT5 KRT17 KRT10 IVL
35 epidermodysplasia verruciformis 1 11.8
36 breast juvenile papillomatosis 10.6 PIK3CA FGFR3
37 rare head and neck tumor 10.5 TP53 PIK3CA
38 schimmelpenning-feuerstein-mims syndrome 10.5 PIK3CA FGFR3 CLEC2A
39 proteus syndrome 10.5 PIK3CA MTOR FGFR3
40 sarcomatoid transitional cell carcinoma 10.5 TP53 MLANA
41 rare adenocarcinoma of the breast 10.5 TP53 PIK3CA
42 anal canal paget's disease 10.5 MLANA CDKN2A
43 chronic laryngitis 10.5 CD1E CD1A
44 ovarian mixed germ cell neoplasm 10.5 PIK3CA MTOR
45 predominantly cortical thymoma 10.5 IVL CD1E
46 pigmented basal cell carcinoma 10.4 MLANA CLEC2A BTK
47 hepatic angiomyolipoma 10.4 MTOR MLANA
48 malignant acrospiroma 10.4 KRT5 CLEC2A
49 anogenital venereal wart 10.4
50 follicular infundibulum tumor 10.4 KRT17 CLEC2A

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
Sources

Symptoms & Phenotypes for Keratosis, Seborrheic

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Human phenotypes related to Keratosis, Seborrheic:

31
# Description HPO Frequency HPO Source Accession
1 verrucae 31 HP:0200043

Symptoms via clinical synopsis from OMIM:

56
Skin:
seborrheic keratoses
congenital seborrheic verrucae

Clinical features from OMIM:

182000

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

26 (show all 37)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 10.12 BTK
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 10.12 TGFB2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.12 MTOR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.12 PIK3CA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 10.12 BTK
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-133 10.12 TGFB2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.12 CD1C
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 10.12 TGFB2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-157 10.12 PIK3CA
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.12 MTOR PIK3CA
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.12 CD1C
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.12 PIK3CA
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.12 MTOR
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.12 PIK3CA
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.12 PIK3CA
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.12 PIK3CA
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-25 10.12 CD1C
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.12 CD1C TGFB2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.12 MTOR PIK3CA
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 10.12 PIK3CA
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.12 TGFB2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.12 MTOR PIK3CA
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.12 CD1C
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 10.12 TGFB2
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.12 MTOR
26 Decreased viability GR00055-A-1 9.72 MTOR PIK3CA
27 Decreased viability GR00055-A-2 9.72 MTOR PIK3CA
28 Decreased viability GR00154-A 9.72 BTK
29 Decreased viability GR00221-A-1 9.72 BTK CDKN2A FGFR3 MTOR PIK3CA
30 Decreased viability GR00221-A-2 9.72 BTK FGFR3 PIK3CA
31 Decreased viability GR00221-A-3 9.72 BTK CDKN2A FGFR3
32 Decreased viability GR00221-A-4 9.72 BTK CDKN2A MTOR PIK3CA
33 Decreased viability GR00249-S 9.72 FGFR3
34 Decreased viability GR00301-A 9.72 BTK
35 Decreased viability GR00342-S-1 9.72 MTOR
36 Decreased viability GR00342-S-2 9.72 MTOR
37 Decreased viability GR00402-S-2 9.72 PIK3CA

MGI Mouse Phenotypes related to Keratosis, Seborrheic:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.81 BTK CDKN2A FGFR3 KRT17 KRT5 MC1R
2 no phenotypic analysis MP:0003012 9.56 CDKN2A FGFR3 KRT17 MC1R MLANA MTOR
3 pigmentation MP:0001186 9.02 CDKN2A KRT17 MC1R MLANA TP53
Sources

Drugs & Therapeutics for Keratosis, Seborrheic

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrogen peroxide Approved, Vet_approved Phase 4 7722-84-1 784
2 Pharmaceutical Solutions Phase 4
3
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
4
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
5
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
6
Cetuximab Approved Phase 1, Phase 2 205923-56-4 56842117 2333
7 Anti-Infective Agents Phase 1, Phase 2
8 Anti-Bacterial Agents Phase 1, Phase 2
9 Antifungal Agents Phase 1, Phase 2
10 Antibiotics, Antitubercular Phase 1, Phase 2
11 Immunologic Factors Phase 1, Phase 2
12 Protein Kinase Inhibitors Phase 1, Phase 2
13 Immunoglobulins Phase 1, Phase 2
14 Antibodies Phase 1, Phase 2
15 Antibodies, Monoclonal Phase 1, Phase 2
16 Immunoglobulins, Intravenous Phase 1, Phase 2
17 Angiogenesis Inhibitors Phase 1, Phase 2
18 Antineoplastic Agents, Immunological Phase 1, Phase 2
19
Erlotinib Hydrochloride Phase 1, Phase 2 183319-69-9 176871
20
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
21
Fluorouracil Approved Phase 1 51-21-8 3385
22
Lenograstim Approved, Investigational Phase 1 135968-09-1
23
Hydroxyurea Approved Phase 1 127-07-1 3657
24
Everolimus Approved Phase 1 159351-69-6 70789204 6442177
25 Immunosuppressive Agents Phase 1
26 Mitogens Phase 1
27 Endothelial Growth Factors Phase 1
28 Antimetabolites Phase 1
29 Cola Phase 1
30
Lidocaine Approved, Vet_approved 137-58-6 3676
31
Epinephrine Approved, Vet_approved 51-43-4 5816
32
Racepinephrine Approved 329-65-7 838
33
Gefitinib Approved, Investigational 184475-35-2 123631
34
Glycolic acid Approved, Investigational 79-14-1 757
35 Epinephryl borate
36 Anesthetics

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 An Open-Label Study Assessing Subject Satisfaction With A-101 Hydrogen Peroxide Topical Solution, 40% (w/w) Treatment for Seborrheic Keratoses of the Face, Neck, and Decolletage Completed NCT03487588 Phase 4 A-101 Topical Solution
2 A Randomized, Double-Blind, Vehicle-Controlled, PArallel Group Study of the Safety and Effectiveness of A-101 Solution 40% in Subjects With Seborrheic Keratosis on the Trunk, Extremities and Face. Completed NCT02667275 Phase 3 A-101 Solution
3 An Open-Label Study of the Safety of A-101 Solution 40% in Subjects With Seborrheic Keratosis on the Trunk, Extremities and Face. Completed NCT02667288 Phase 3 A-101 Solution
4 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Study of the Safety and Effectiveness of A-101 Solution 40% in Subjects With Seborrheic Keratosis on the Trunk, Extremities and Face. Completed NCT02667236 Phase 3 A-101 Solution
5 Novel Compositions for Treating or Preventing Dermal Disorders Unknown status NCT03103893 Phase 1, Phase 2 Rapamycin
6 A Randomized, Double-Blind, Vehicle-Controlled, Within-Subject, Comparison Study of the Safety, Tolerability, And Effectiveness of A-101 Topical Solution in Subjects With Seborrheic Keratosis Completed NCT01986920 Phase 1, Phase 2 A-101 25%;A-101 32.5%;A-101 40%;A-101 Vehicle
7 A Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Study of the Dose-Response Profile of A-101 Topical Solution in Subjects With Seborrheic Keratosis of the Face Completed NCT02260180 Phase 2 A-101
8 A Randomized, Double-Blind, Vehicle Controlled, Parallel Group Study of the Dose-Response Profile of A-101 Topical Solution in Subjects With Seborrheic Keratosis. Completed NCT02160626 Phase 2 A-101 Vehicle;A-101 (40) Topical Solution;A-101 (32.5) Topical Solution
9 A Phase 2 Randomized, Double-Blind, Vehicle-Controlled, Parallel Group Study of the Safety and Effectiveness of A-101(Hydrogen Peroxide) Topical Solution in Subjects With Seborrheic Keratosis Lesions on the Trunk, Extremities, and Face Completed NCT03148691 Phase 2 A-101
10 A Phase 2a, Multi-Centre, Open-Label Study to Evaluate the Safety and Efficacy of PEP005(Ingenol Mebutate) Gel, 0.05%, in Patients With Seborrhoeic Keratosis on Non-head Locations Completed NCT01214564 Phase 2 PEP005 (ingenol mebutate) Gel
11 A Phase I, and Biologic Correlative Study of Erlotinib, in Combination With Cetuximab and Bevacizumab in Patients With Metastatic Renal Cell Carcinoma Completed NCT00101348 Phase 1, Phase 2 erlotinib hydrochloride
12 Phase 1 Study of 17-dimethylaminoethylamino-17-demethoxygeldanamycin (17-DMAG, NSC #707545) in Patients With Solid Tumors. Completed NCT00089362 Phase 1 alvespimycin hydrochloride
13 A Phase I Study of Surgery Plus Intraoperative Photodynamic Therapy (PDT) in Patients With Resectable, Primary or Recurrent Head and Neck Cancer Completed NCT00470496 Phase 1 HPPH;photodynamic therapy
14 A Phase I Study Of Bevacizumab (Recombinant Humanized Monoclonal Antibody To Vascular Endothelial Growth Factor) In Addition To Flourouracil And Hydroxyurea As Initial Chemotherapy With Concomitant Radiotherapy (B-FHX) For Poor Prognosis Head And Neck Cancer Completed NCT00023959 Phase 1 hydroxyurea;fluorouracil
15 A Phase I Evaluation of Cetuximab and RAD001 in Patients With Solid Tumors Completed NCT01637194 Phase 1 everolimus
16 An Investigator-Initiated Study to Assess the Efficacy and Degree of Irritation of Ingenol Mebutate 0.015% Gel and Dermasil Lotion Versus Ingenol Mebuate 0.015% Alone in the Treatment of Actinic Keratoses (AK) on the Face. Completed NCT02411851 Phase 1 ingenol mebutate 0.015%
17 Improving Diagnosis of Skin Cancer Patients Via Optical Coherence Tomography and Teledermatology- A Pilot Study Unknown status NCT01680562
18 Evaluation of Nano-Pulse Stimulation (NPS) in Patients With Seborrheic Keratosis Completed NCT03846531
19 Is Cryosurgery or Curettage More Effective at Treating Seborrheic Keratoses? Completed NCT01159860
20 Optical Biopsy of Human Skin in Conjunction With Laser Treatment Completed NCT00540566
21 Efficacy of a 585 nm Pulsed Dye Laser (PDL) for the Treatment of Dermatosis Papulosa Nigra, and Compare it to Therapy With Curettage and Electrodesiccation. Completed NCT00710203
22 Single Agent ZD-1839 (NSC-715055, IND-61187) in Patients With Advanced Head and Neck Carcinoma or Non-Small Cell Lung Cancer Aged 75 Years and Older (and in a Cohort of Patients 50 Years Old and Younger) Completed NCT00068497 gefitinib
23 Effectiveness, Safety, and Cost Efficacy of Water (H2O) as a Substitute for Sodium Bicarbonate (NaHCO3) Plus Solution in Neutralization of Chemical Peeling Using 35% Glycolic Acid Solution Completed NCT04154436
24 Prospective, Open-Label, Multi-Center, Non-Significant Risk Study of Nano-Pulse Stimulationâ„¢ (NPSâ„¢) Technology in Healthy Adults With Seborrheic Keratosis Active, not recruiting NCT04249115
25 Fast Track Diagnosis of Skin Tumours by Four Different Advanced Imaging Technologies - a Clinical Study Active, not recruiting NCT04229277
26 Skin Lesion Detection With Novel Total Body Digital Photography Smartphone Application Active, not recruiting NCT02740257
27 Laser Treatment of Genito-urinary Syndrome in Women With Breast and Endometrial Cancer and Menopausal Women Not yet recruiting NCT03238053
28 Comparing the Efficacy and Risk of Adverse Events of Electrocautery Versus 532 nm Qswitched Neodymium-doped Yttrium Aluminium Garnet Laser for the Treatment of Flat Seborrheic Keratoses: A Randomized Control Trial Withdrawn NCT02366559

Search NIH Clinical Center for Keratosis, Seborrheic

Cochrane evidence based reviews: keratosis, seborrheic

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Genetic Tests for Keratosis, Seborrheic

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Genetic tests related to Keratosis, Seborrheic:

# Genetic test Affiliating Genes
1 Seborrheic Keratosis 29 PIK3CA
Sources

Anatomical Context for Keratosis, Seborrheic

About this section

MalaCards organs/tissues related to Keratosis, Seborrheic:

40
Skin, Liver, Breast, Endothelial, Lung, Eye, Testes
Sources

Publications for Keratosis, Seborrheic

About this section

Articles related to Keratosis, Seborrheic:

(show top 50) (show all 869)
# Title Authors PMID Year
1
Activating mutations of the tyrosine kinase receptor FGFR3 are associated with benign skin tumors in mice and humans. 61 54 56 6
15772091 2005
2
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. 54 6 56
17673550 2007
3
PIK3CA(H1047R) induces multipotency and multi-lineage mammary tumours. 6
26266975 2015
4
Reactivation of multipotency by oncogenic PIK3CA induces breast tumour heterogeneity. 6
26266985 2015
5
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 6
23100325 2013
6
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 6
22658544 2012
7
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 6
22729223 2012
8
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 6
22729224 2012
9
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 6
22729222 2012
10
An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. 6
18642369 2008
11
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. 6
16841094 2006
12
PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. 6
15608678 2005
13
Mutation of the PIK3CA gene in ovarian and breast cancer. 6
15520168 2004
14
High frequency of mutations of the PIK3CA gene in human cancers. 6
15016963 2004
15
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. 6
12833394 2003
16
Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14). 6
11529856 2001
17
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas. 6
10471491 1999
18
Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. 6
10073901 1999
19
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia. 6
9677066 1998
20
Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene. 6
8858131 1996
21
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 6
8589699 1995
22
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. 6
7773297 1995
23
Familial congenital multiple seborrheic verrucae. 56
143912 1977
24
FGFR3 mutation affects cell growth, apoptosis and attachment in keratinocytes. 54 61
20420824 2010
25
Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors. 54 61
17255960 2007
26
Dysregulated expression of transforming growth factor beta and its type-I and type-II receptors in basal-cell carcinoma. 54 61
9178800 1997
27
Segmental seborrheic keratosis-like keratinocyte epidermal nevus. 61
32424828 2020
28
Screening and Intervention for Skin Cancer in the Galapagos. 61
32355081 2020
29
Change of the diagnostic distribution in applicants to dermatology after COVID-19 pandemic: What it whispers to us? 61
32530503 2020
30
Reflectance confocal microscopy. Part II. Diagnostic criteria of common benign and malignant neoplasms, dermoscopic and histopathological correlates of key confocal criteria, and diagnostic algorithms. 61
32565210 2020
31
Cutaneous horn associated to seborrheic keratosis in eyelid margin. 61
32565018 2020
32
The Mast Cell-SCF-CB1 Interaction Is a Key Player in Seborrheic Keratosis. 61
32578480 2020
33
33% hydrogen peroxide as a Neoadjuvant treatment in the surgical excision of non-melanoma skin cancers: a case series. 61
32487195 2020
34
The Prognostic Value of Podoplanin Expression in Nonmelanoma Skin Cancers: Correlation With Lymphatic Vessel Density. 61
31688008 2020
35
Epithelial sheath neuroma: A case report and literature review. 61
32383640 2020
36
Disseminated TB in an Immunocompetent Patient: A Case Report. 61
32484114 2020
37
Reflectance Confocal Microscopy of Pigmented Bowen's Disease: A Case Series of Difficult to Diagnose Lesions. 61
32518541 2020
38
Seborrheic Keratosis Concealing a Basal Cell Carcinoma. 61
32433353 2020
39
Application and challenge of reflectance confocal microscopy in the diagnosis of pigmented nevus. 61
32253772 2020
40
Lentigo maligna: diagnosis and treatment. 61
29683288 2020
41
Benefits of Teledermatology for Geriatric Patients: Population-Based Cross-Sectional Study. 61
32314966 2020
42
Comparison of efficacy & safety of 30% hydrogen peroxide with 50% trichloroacetic acid in eborrheic keratosis: a randomized controlled study. 61
32348081 2020
43
Basaloid tumors arising from seborrheic keratosis: Malignant basal cell carcinoma or benign basaloid follicular hamartomatous proliferation? 61
31682281 2020
44
Multiple seborrheic keratosis-like lesions of mycosis fungoides masquerading as the Leser-Trèlat sign. 61
31971266 2020
45
Accuracy of dermoscopic criteria for the differential diagnosis between irritated seborrheic keratosis and squamous cell carcinoma. 61
32068050 2020
46
A case of clonal seborrheic keratosis with characteristic dermoscopic features. 61
31904732 2020
47
p53-Regulated Long Noncoding RNA PRECSIT Promotes Progression of Cutaneous Squamous Cell Carcinoma via STAT3 Signaling. 61
31837949 2020
48
Onychomatricoma Micropapilliferum, a New Variant of Onychomatricoma: Clinical, Dermoscopical, and Histological Correlations (Report of 4 Cases). 61
31436573 2020
49
Dermoscopy Training Effect on Diagnostic Accuracy of Skin Lesions in Canadian Family Medicine Physicians Using the Triage Amalgamated Dermoscopic Algorithm. 61
32363097 2020
50
Dermatopathological characteristics of dermatofibromas from dermatoscopic clues. 61
31264200 2020
Sources

Variations for Keratosis, Seborrheic

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ClinVar genetic disease variations for Keratosis, Seborrheic:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIK3CA NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)SNV Pathogenic 13652 rs121913279 3:178952085-178952085 3:179234297-179234297
2 PIK3CA NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)SNV Pathogenic 13655 rs104886003 3:178936091-178936091 3:179218303-179218303
3 FGFR3 NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys)SNV Pathogenic 16332 rs121913482 4:1803564-1803564 4:1801837-1801837
4 FGFR3 NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys)SNV Pathogenic 16339 rs121913483 4:1803568-1803568 4:1801841-1801841
5 PIK3CA NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)SNV Pathogenic 39705 rs121913281 3:178952084-178952084 3:179234296-179234296
6 PIK3CA NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)SNV Uncertain significance 403909 rs113613074 3:178922361-178922361 3:179204573-179204573
7 PIK3CA NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)SNV Uncertain significance 526641 rs755969956 3:178917561-178917561 3:179199773-179199773

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

73
# 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.Glu545Gly VAR_026177 rs121913274
9 PIK3CA p.Glu545Lys VAR_026178 rs104886003

Cosmic variations for Keratosis, Seborrheic:

9 (show top 50) (show all 88)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM88264321 TP53 skin,face,other,keratosis c.284C>T p.S95F 17:7676085-7676085 9
2 COSM87898458 TP53 skin,face,other,keratosis c.853G>A p.E285K 17:7673767-7673767 9
3 COSM87898544 TP53 skin,face,other,keratosis c.680C>T p.S227F 17:7674283-7674283 9
4 COSM87949256 TP53 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 9
5 COSM87918856 TP53 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 9
6 COSM112988963 HRAS skin,hand,other,keratosis c.35G>A p.G12D 11:534288-534288 9
7 COSM142560375 skin,face,other,keratosis c.736G>A p.E246K 17:7673767-7673767 9
8 COSM143664176 skin,face,other,keratosis c.167C>T p.S56F 17:7676085-7676085 9
9 COSM144013535 skin,face,other,keratosis c.647C>T p.S216F 17:7674283-7674283 9
10 COSM101967369 skin,hand,other,keratosis c.35G>A p.G12D 11:534288-534288 9
11 COSM144345273 skin,face,other,keratosis c.385C>T p.H129Y 17:7675110-7675110 9
12 COSM143370962 skin,face,other,keratosis c.736G>A p.E246K 17:7673767-7673767 9
13 COSM143156898 skin,face,other,keratosis c.376G>A p.E126K 17:7673767-7673767 9
14 COSM112271356 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 9
15 COSM111776633 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 9
16 COSM111802255 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 9
17 COSM111758655 skin,face,other,keratosis c.853G>A p.E285K 17:7673767-7673767 9
18 COSM121895107 skin,face,other,keratosis c.262T>A p.Y88N 17:7674873-7674873 9
19 COSM142605302 skin,face,other,keratosis c.385C>T p.H129Y 17:7675110-7675110 9
20 COSM112296759 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 9
21 COSM144029046 skin,face,other,keratosis c.625T>A p.Y209N 17:7674873-7674873 9
22 COSM105673018 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 9
23 COSM144984225 skin,face,other,keratosis c.167C>T p.S56F 17:7676085-7676085 9
24 COSM144325001 skin,face,other,keratosis c.541T>A p.Y181N 17:7674873-7674873 9
25 COSM105947517 skin,face,other,keratosis c.284C>T p.S95F 17:7676085-7676085 9
26 COSM91331287 skin,chest,other,keratosis c.35G>A p.G12D 11:534288-534288 9
27 COSM145017841 skin,face,other,keratosis c.563C>T p.S188F 17:7674283-7674283 9
28 COSM144013457 skin,face,other,keratosis c.820G>A p.E274K 17:7673767-7673767 9
29 COSM106053265 skin,face,other,keratosis c.853G>A p.E285K 17:7673767-7673767 9
30 COSM93482742 skin,face,other,keratosis c.284C>T p.S95F 17:7676085-7676085 9
31 COSM144670223 skin,face,other,keratosis c.541T>A p.Y181N 17:7674873-7674873 9
32 COSM105639626 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 9
33 COSM106070054 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 9
34 COSM145316791 skin,face,other,keratosis c.167C>T p.S56F 17:7676085-7676085 9
35 COSM142577206 skin,face,other,keratosis c.541T>A p.Y181N 17:7674873-7674873 9
36 COSM144100850 skin,face,other,keratosis c.181T>A p.Y61N 17:7674873-7674873 9
37 COSM145057476 skin,face,other,keratosis c.385C>T p.H129Y 17:7675110-7675110 9
38 COSM122288472 skin,face,other,keratosis c.262T>A p.Y88N 17:7674873-7674873 9
39 COSM122314636 skin,face,other,keratosis c.106C>T p.H36Y 17:7675110-7675110 9
40 COSM142850810 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 9
41 COSM121876085 skin,face,other,keratosis c.457G>A p.E153K 17:7673767-7673767 9
42 COSM144696180 skin,face,other,keratosis c.385C>T p.H129Y 17:7675110-7675110 9
43 COSM122734253 skin,face,other,keratosis c.457G>A p.E153K 17:7673767-7673767 9
44 COSM105721529 skin,hand,other,keratosis c.35G>A p.G12D 11:534288-534288 9
45 COSM142560436 skin,face,other,keratosis c.563C>T p.S188F 17:7674283-7674283 9
46 COSM143959507 skin,face,other,keratosis c.181T>A p.Y61N 17:7674873-7674873 9
47 COSM106095670 skin,face,other,keratosis c.502C>T p.H168Y 17:7675110-7675110 9
48 COSM144651221 skin,face,other,keratosis c.736G>A p.E246K 17:7673767-7673767 9
49 COSM112253698 skin,face,other,keratosis c.853G>A p.E285K 17:7673767-7673767 9
50 COSM93201428 skin,face,other,keratosis c.658T>A p.Y220N 17:7674873-7674873 9
Sources

Expression for Keratosis, Seborrheic

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

Pathways for Keratosis, Seborrheic

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Class I MHC mediated antigen processing and presentation 65
Show member pathways
 13.26 TP53 PIK3CA MTOR FGFR3 CD1C CD1B
2
Endometrial cancer 36
Show member pathways
 12.74 TP53 TGFB2 PIK3CA MTOR CDKN2A
3
Gastric cancer 36
Show member pathways
 12.6 TP53 TGFB2 PIK3CA MTOR CDKN2A
4
Pathways in cancer 36
12.57 TP53 TGFB2 PIK3CA MTOR FGFR3 CDKN2A
5
Downstream signaling events of B Cell Receptor (BCR) 65
Show member pathways
 12.53 TP53 PIK3CA MTOR FGFR3 BTK
6
ErbB signaling pathway 36 1
Show member pathways
 12.36 TP53 TGFB2 PIK3CA MTOR FGFR3
7
Apoptosis Pathway 70
Show member pathways
 12.31 TP53 PIK3CA MTOR FGFR3
8
Human T-cell leukemia virus 1 infection 36
12.17 TP53 TGFB2 PIK3CA CDKN2A
9
Proteoglycans in cancer 36
12.12 TP53 TGFB2 PIK3CA MTOR
10
Tight junction 36
11.94 CD1E CD1C CD1B CD1A
11
MicroRNAs in cancer 36
11.92 TP53 TGFB2 PIK3CA MTOR FGFR3 CDKN2A
12
Cellular senescence (KEGG) 36
11.75 TP53 TGFB2 PIK3CA MTOR CDKN2A
13
Glucocorticoid receptor regulatory network 1
11.67 TP53 KRT5 KRT17
14
Hematopoietic cell lineage 36
11.62 CD1E CD1C CD1B CD1A
15
Regulation of TP53 Expression and Degradation 65
Show member pathways
 11.61 TP53 MTOR CDKN2A
16
Platinum drug resistance 36
11.6 TP53 PIK3CA CDKN2A
17
Bladder cancer 36 1
11.59 TP53 FGFR3 CDKN2A
18
Central carbon metabolism in cancer 36
11.4 TP53 PIK3CA MTOR FGFR3
19
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.3 PIK3CA MTOR BTK
20
Amoebiasis 36
11.11 TGFB2 PIK3CA CD1E CD1C CD1B CD1A
Sources

GO Terms for Keratosis, Seborrheic

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.02 CLEC2A CD1E CD1C CD1B CD1A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.85 CD1E CD1C CD1B CD1A BTK
2 keratinization GO:0031424 9.73 KRT5 KRT17 KRT10 IVL
3 positive regulation of protein kinase B signaling GO:0051897 9.67 PIK3CA MTOR MC1R FGFR3
4 cell cycle arrest GO:0007050 9.62 TP53 TGFB2 MTOR CDKN2A
5 cornification GO:0070268 9.56 KRT5 KRT17 KRT10 IVL
6 replicative senescence GO:0090399 9.51 TP53 CDKN2A
7 anoikis GO:0043276 9.49 PIK3CA MTOR
8 somatic stem cell division GO:0048103 9.48 TGFB2 CDKN2A
9 positive regulation of T cell mediated cytotoxicity GO:0001916 9.46 CD1E CD1C CD1B CD1A
10 heart valve morphogenesis GO:0003179 9.4 TGFB2 MTOR
11 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.26 CD1E CD1C CD1B CD1A
12 antigen processing and presentation, endogenous lipid antigen via MHC class Ib GO:0048006 8.92 CD1E CD1C CD1B CD1A

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

# Name GO ID Score Top Affiliating Genes
1 lipopeptide binding GO:0071723 9.46 CD1E CD1C CD1B CD1A
2 exogenous lipid antigen binding GO:0030884 9.26 CD1E CD1C CD1B CD1A
3 endogenous lipid antigen binding GO:0030883 8.92 CD1E CD1C CD1B CD1A
Sources

Sources for Keratosis, Seborrheic

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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