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EMPD
MCID: PGT003
MIFTS: 54

Paget Disease, Extramammary (EMPD)

Categories: Cancer diseases, Endocrine diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Paget Disease, Extramammary

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MalaCards integrated aliases for Paget Disease, Extramammary:

Name: Paget Disease, Extramammary 57 19 43
Extramammary Paget Disease 19 58 16
Extramammary Paget's Disease 11 75
Paget Disease Extramammary 75 71
Cutaneous Paget's Disease 11 14
Extramammary Pagets Disease 53
Cutaneous Paget Disease 11
Paget's Disease of Skin 11
Empd 19

Characteristics:


Inheritance:

Rare familial cases 57

Age Of Onset:

Extramammary Paget Disease: Adult,Elderly 58

Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Reproductive diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:3450
OMIM® 57 167300
MeSH 43 D010145
NCIt 49 C3302
MESH via Orphanet 44 D010145
ICD10 via Orphanet 32 C44.5
UMLS via Orphanet 72 C0030186
Orphanet 58 ORPHA2800
MedGen 40 C0030186
UMLS 71 C0030186
Sources

Summaries for Paget Disease, Extramammary

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GARD: 19 Extramammary Paget disease (EMPD) is characterized by a chronic eczema-like rash of the skin around the genital regions of males and females. Under the microscope, this condition looks very similar to a condition that occurs on the breast called mammary Paget disease. The primary difference between the two is the location of the rash. While the location of the rash for individuals with mammary Paget disease is around the nipple and areolar skin, EMPD may occur in the vulva, perianal region, scrotum, penis, and axilla. About 25 percent of Extramammary Paget disease is associated with an underlying cancer.

MalaCards based summary: Paget Disease, Extramammary, also known as extramammary paget disease, is related to scrotum paget's disease and adenocarcinoma in situ. An important gene associated with Paget Disease, Extramammary is KRT7 (Keratin 7), and among its related pathways/superpathways are Keratinization and COPI-independent Golgi-to-ER retrograde traffic. The drugs Lidocaine and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include skin, lymph node and breast, and related phenotypes are neoplasm and eczematoid dermatitis

Orphanet: 58 A rare skin tumor characterized by predominantly intraepithelial growth of an adenocarcinoma which may either arise primarily in the skin (primary extramammary Paget disease) or result from intraepithelial spread of a visceral carcinoma (secondary extramammary Paget disease). The lesion is typically located in the anogenital region, presenting as a scaly, oozing, pruritic or painful erythematous plaque often resembling eczema. It may exhibit an invasive component with a significant risk of lymph node metastasis.

Disease Ontology: 11 A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli.

Wikipedia: 75 Extramammary Paget's Disease (EMPD) is a rare and slow-growing malignancy which occurs within the... more...

More information from OMIM: 167300
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Related Diseases for Paget Disease, Extramammary

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Diseases related to Paget Disease, Extramammary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 586)
# Related Disease Score Top Affiliating Genes
1 scrotum paget's disease 31.2 MUC1 KRT7
2 adenocarcinoma in situ 30.7 KRT7 CEACAM5 CDX2
3 skin carcinoma 30.6 MLANA KRT7 KRT5 KRT20 ERBB2
4 vulva cancer 30.6 PIP KRT7 ERBB2 CEACAM5
5 bartholin's gland adenocarcinoma 30.6 PIP KRT7
6 vulval paget's disease 30.5 PIP MLANA KRT7 ERBB2 CEACAM5
7 papilloma 30.5 KRT7 KRT5 KRT20 ERBB2
8 rectal benign neoplasm 30.4 KRT7 KRT20 CEACAM5 CDX2
9 rectum cancer 30.4 KRT20 CEACAM7 CEACAM5 CEACAM3
10 merkel cell carcinoma 30.3 MUC1 KRT7 KRT20
11 appendix adenocarcinoma 30.3 KRT7 KRT20 CEACAM5 CDX2
12 papillary serous adenocarcinoma 30.3 KRT7 ERBB2 CEACAM5
13 bartholin's gland carcinoma 30.3 KRT7 CDX2
14 endocervical adenocarcinoma 30.3 KRT7 ERBB2 CEACAM5
15 apocrine adenocarcinoma 30.2 PIP KRT7 KRT5 ERBB2 CEACAM5 AR
16 skin benign neoplasm 30.2 PIP MLANA KRT7 KRT5 KRT20
17 keratosis, seborrheic 30.2 MLANA KRT7 KRT5
18 transitional cell carcinoma 30.2 KRT7 KRT20 KRT19 ERBB4 ERBB2
19 squamous cell carcinoma 30.2 MUC1 KRT7 KRT19 ERBB2 CEACAM5
20 ductal carcinoma in situ 30.1 PIP MUC1 KRT5 ERBB2 AR
21 intraductal papilloma 30.1 KRT7 KRT5 ERBB2
22 comedo carcinoma 30.1 KRT5 ERBB2 AR
23 cystic teratoma 30.1 MUC1 KRT7 KRT20 CEACAM5 CDX2
24 rectum adenocarcinoma 30.1 KRT7 KRT20 ERBB2 CEACAM5 CDX2
25 cecum carcinoma 30.1 KRT20 CEACAM5 CDX2
26 suppression of tumorigenicity 12 30.0 KRT5 ERBB2 AR
27 intestinal obstruction 30.0 KRT7 KRT20 CEACAM5 CDX2
28 colorectal adenocarcinoma 30.0 KRT7 KRT20 ERBB2 CEACAM5 CDX2
29 vulva adenocarcinoma 29.9 PIP KRT7 KRT20 ERBB2 CEACAM5 CDX2
30 anus cancer 29.9 KRT7 ERBB2 CEACAM5 CDX2
31 eccrine acrospiroma 29.9 PIP KRT7 KRT5 CEACAM5
32 anal canal paget's disease 29.9 PIP MLANA KRT7 CDX2
33 teratoma 29.9 MUC1 KRT7 KRT20 ERBB2 CEACAM5 CDX2
34 anal canal adenocarcinoma 29.9 PIP MUC5AC KRT7 KRT20 CDX2
35 anal paget's disease 29.9 PIP MLANA KRT7 KRT20 CEACAM5 CDX2
36 sweat gland benign neoplasm 29.9 PIP KRT7 KRT5 CEACAM5
37 adenocarcinoma 29.9 MUC5AC MUC1 KRT7 KRT20 ERBB4 ERBB2
38 small cell carcinoma 29.9 KRT7 KRT5 KRT20 CEACAM5
39 anus adenocarcinoma 29.9 PIP MUC5AC KRT7 CDX2
40 benign teratoma 29.8 KRT7 KRT5 KRT20 CEACAM5 CDX2
41 bladder cancer 29.8 MUC1 KRT7 KRT20 KRT19 ERBB4 ERBB2
42 hidradenoma 29.7 PIP MUC1 KRT7 KRT5 CEACAM5
43 mammary paget's disease 29.7 PIP MUC1 KRT7 KRT20 ERBB2 CEACAM5
44 basal cell carcinoma 29.6 PIP MUC1 KRT7 KRT5 KRT20 KRT19
45 linitis plastica 29.6 PIP KRT7 KRT20 ERBB2 CEACAM5 CDX2
46 breast lobular carcinoma 29.6 PIP MUC1 KRT7 KRT5 ERBB2 AR
47 syringoma 29.5 PIP MUC1 KRT7 KRT19 CEACAM5
48 anal canal carcinoma 29.5 PIP KRT7 KRT5 KRT20 CEACAM5 CDX2
49 mucinous adenocarcinoma 29.5 MUC5AC MUC1 KRT7 KRT20 ERBB2 CEACAM5
50 adenoid squamous cell carcinoma 29.4 KRT7 KRT5 KRT19 CEACAM5

Graphical network of the top 20 diseases related to Paget Disease, Extramammary:



Diseases related to Paget Disease, Extramammary
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Symptoms & Phenotypes for Paget Disease, Extramammary

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Human phenotypes related to Paget Disease, Extramammary:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neoplasm 30 HP:0002664
2 eczematoid dermatitis 30 HP:0000976

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Oncology:
extramammary paget disease
internal malignancy

Skin:
eczematous eruptions with weeping and crust formation

Clinical features from OMIM®:

167300 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Paget Disease, Extramammary:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.63 AR CDX2 CEACAM5 ERBB2 KRT19 MUC1
2 digestive/alimentary MP:0005381 9.61 AR CDX2 CEACAM5 ERBB2 KRT19 KRT5
3 integument MP:0010771 9.23 AR CEACAM7 ERBB2 ERBB4 KRT19 KRT5
Sources

Drugs & Therapeutics for Paget Disease, Extramammary

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Drugs for Paget Disease, Extramammary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
2
Acetaminophen Approved Phase 3 103-90-2 1983
3
Imiquimod Approved, Investigational Phase 3 99011-02-6 57469
4
Petrolatum Approved, Investigational Phase 3 8009-03-8
5 Antipyretics Phase 3
6 Adjuvants, Immunologic Phase 3
7 Anti-Arrhythmia Agents Phase 3
8 Sodium Channel Blockers Phase 3
9 interferons Phase 3
10 Anesthetics, Local Phase 3
11 Anesthetics Phase 3
12 Analgesics, Non-Narcotic Phase 3
13 Analgesics Phase 3
14 Emollients Phase 3
15 Dermatologic Agents Phase 3
16 Immunologic Factors Phase 3
17 Diuretics, Potassium Sparing Phase 3
18
Nivolumab Approved Phase 2 946414-94-4
19
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
20
Ipilimumab Approved Phase 2 477202-00-9
21 Immune Checkpoint Inhibitors Phase 2
22 Antineoplastic Agents, Immunological Phase 2
23 Immunoglobulins Phase 2
24 Antibodies, Monoclonal Phase 2
25 Antibodies Phase 2
26 Photosensitizing Agents
27 Methyl 5-aminolevulinate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Topical 5% Imiquimod Cream for Vulvar Paget's Disease: Clinical Efficacy, Safety and Immunological Response Completed NCT02385188 Phase 3 Imiquimod;paracetamol;lidocaine in Vaseline ointment
2 A Phase II Study of Talimogene Laherparepvec Followed by Talimogene Laherparepvec + Nivolumab in Refractory T Cell and NK Cell Lymphomas, Cutaneous Squamous Cell Carcinoma, Merkel Cell Carcinoma, and Other Rare Skin Tumors Recruiting NCT02978625 Phase 2
3 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
4 Videoscopic Versus Open Inguinal Lymphadenectomy for Sentinel Node Positive Cutaneous Malignancies and Genitourinary Staging Procedures Completed NCT01526486
5 A Pilot Study of Topical Imiquimod Therapy for the Treatment of Recurrent Extramammary Paget's Disease Completed NCT00504023 imiquimod
6 An Interventional, Phase II, Non Randomized, Mono-centric Study on the Clinical Efficacy and Safety of the Medical Device PAGETEX® as a Photodynamic Therapy Device in the Treatment of Extra-Mammary Paget's Disease of the Vulva (EMPV) Recruiting NCT03713203
7 Prospective Registry of Gynecologic Patients With Extramammary Paget's Disease Recruiting NCT03564483

Search NIH Clinical Center for Paget Disease, Extramammary

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Alendronate
Etidronate
Etidronate Disodium
pamidronate
Pamidronate Disodium
Risedronate
risedronate sodium
Tiludronate
Tiludronate disodium

Cochrane evidence based reviews: paget disease, extramammary

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Genetic Tests for Paget Disease, Extramammary

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Anatomical Context for Paget Disease, Extramammary

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Organs/tissues related to Paget Disease, Extramammary:

MalaCards : Skin, Lymph Node, Breast, Brain, Prostate, T Cells, Cervix
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Publications for Paget Disease, Extramammary

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Articles related to Paget Disease, Extramammary:

(show top 50) (show all 1479)
# Title Authors PMID Year
1
Familial occurrence of extramammary Paget's disease. 62 57
4345608 1973
2
Anogenital (extramammary) Paget's disease. A clinicopathological study. 62 57
13953662 1963
3
Metastatic extramammary Paget's disease treated with paclitaxel and trastuzumab combination chemotherapy. 53 62
19691751 2009
4
HER-2/neu expression in extramammary Paget disease: a clinicopathologic and immunohistochemistry study of 47 cases with and without underlying malignancy. 53 62
19519604 2009
5
Unifocality of extramammary Paget disease. 53 62
19119096 2008
6
HER-2 gene amplification in Paget disease of the nipple and extramammary site: a chromogenic in situ hybridization study. 53 62
16932067 2006
7
Extramammary Paget's disease: analysis of growth signal pathway from the human epidermal growth factor receptor 2 protein. 53 62
16311120 2005
8
Androgen receptors are frequently expressed in mammary and extramammary Paget's disease. 53 62
15920545 2005
9
Lymphovascular and marginal invasion as useful prognostic indicators and the role of c-erbB-2 in patients with male extramammary Paget's disease: a study of 31 patients. 53 62
16006892 2005
10
HER-2/neu expression in Paget disease of the vulva and the female breast. 53 62
15491754 2004
11
Pagetoid variant of actinic keratosis with or without squamous cell carcinoma of sun-exposed skin: a lesion simulating extramammary Paget's disease. 53 62
12383215 2002
12
Mammary and extramammary Paget's disease. 53 62
11064666 2000
13
Low specificity of cytokeratin 20 in the diagnosis of extramammary Paget's disease. 53 62
10777264 2000
14
The use of cytokeratins 7 and 20 in the diagnosis of primary and secondary extramammary Paget's disease. 53 62
10730755 2000
15
erbB-2 overexpression but no activation of beta-Catenin gene in extramammary Paget's disease. 53 62
10469313 1999
16
Immunohistochemical detection of erbB-4 expression in extramammary Paget's disease. 53 62
10228651 1999
17
Intraepidermal cytokeratin 7 expression is not restricted to Paget cells but is also seen in Toker cells and Merkel cells. 53 62
9989849 1999
18
Cytokeratin 7 staining in mammary and extramammary Paget's disease. 53 62
9388055 1997
19
Cytokeratins, CEA, and mucin histochemistry in the diagnosis and characterization of extramammary Paget's disease. 53 62
9208972 1997
20
DNA ploidy and expression of p53 and C-erbB-2 in extramammary Paget's disease of the vulva. 53 62
8995553 1997
21
An immunohistochemical study of lysozyme, CD-15 (Leu M1), and gross cystic disease fluid protein-15 in various skin tumors. Assessment of the specificity and sensitivity of markers of apocrine differentiation. 53 62
8599433 1995
22
Vulvar Paget's disease. Is immunocytochemistry helpful in assessing the surgical margins? 53 62
1703577 1990
23
c-erbB-2 oncoprotein expression in mammary and extramammary Paget's disease: an immunohistochemical study. 53 62
2173676 1990
24
[Translated article] Cutaneous Apocrine Adenocarcinoma of the Groin With Extramammary Paget Disease: Response to Dual HER2 Blockade With Trastuzumab and Pertuzumab. 62
36220383 2022
25
Cutaneous Apocrine Adenocarcinoma of the Groin With Extramammary Paget Disease: Response to Dual HER2 Blockade With Trastuzumab and Pertuzumab. 62
36460361 2022
26
Neutrophil-to-lymphocyte ratio is a potential prognostic biomarker for extramammary Paget disease: A retrospective study. 62
35903974 2022
27
Coexistence of condyloma acuminatum and extramammary Paget's disease on penis and scrotum: A rare case report. 62
36397375 2022
28
Penoscrotal defect reconstruction using loco-regional flaps in treatment of extramammary Paget's disease: Experience and suggestion of a simplified algorithm. 62
36420576 2022
29
Perianal Paget's disease. 62
36412481 2022
30
S1-Guideline: Microscopically controlled surgery. 62
36448272 2022
31
CDX2 expression in primary skin tumors-case series and review of the literature. 62
35926811 2022
32
Postoperative radiation therapy improves prognoses in extramammary Paget's disease presenting with multiple lymph node metastases. 62
35769003 2022
33
Extramammary Paget's disease: Updates in the workup and management. 62
36381596 2022
34
Local Recurrence Rates of Extramammary Paget Disease Are Lower After Mohs Micrographic Surgery Compared With Wide Local Excision: A Systematic Review and Meta-Analysis. 62
36206405 2022
35
Sentinel lymph node biopsy in extramammary Paget disease: A 13-year institutional experience. 62
36217770 2022
36
Reconstruction of the male external genitalia in diverse disease processes: Our reconstructive algorithm, techniques, and experience. 62
36204359 2022
37
Unusual Manifestations of Vulval Paget Disease. 62
34570018 2022
38
Scrotal Extramammary Paget's Disease in an Elderly Caucasian Male. 62
36299959 2022
39
Skull metastases from extramammary Paget's disease emerging 8 years after initial treatment with no local progression: illustrative case. 62
36164671 2022
40
Upregulated androgen receptor variant-7 mRNA and protein in extramammary Paget's disease. 62
35592917 2022
41
Clinical and dermoscopic features of extramammary Paget's disease: A retrospective analysis of 49 cases. 62
36075520 2022
42
Clinical significance of ERBB2 S310F mutation in extramammary Paget's disease. 62
35582767 2022
43
Fluorescence kinetics study of twice laser irradiation based HpD-PDT for nonmelanoma skin cancer. 62
35391497 2022
44
Advances in Topical Treatments of Cutaneous Malignancies. 62
36169917 2022
45
Perianal Paget's disease - A diagnosis to consider. 62
36177816 2022
46
Value of pseudopod sign on high-frequency ultrasound in predicting the pathological invasion of extramammary Paget's disease lesions. 62
35344636 2022
47
Concurrent extramammary Paget's disease involving the genitalia and axilla: Case report and literature review. 62
35622937 2022
48
Interdisciplinary Management of Extramammary Paget's Disease Using Mohs Micrographic Surgery With Frozen Section Cytokeratin-7 Immunostains. 62
35561850 2022
49
Management and outcomes of hydronephrosis in patients with metastatic extramammary Paget's disease: A retrospective analysis. 62
35466461 2022
50
Perianal Paget disease associated with non-invasive colorectal adenoma. 62
35980771 2022
Sources

Variations for Paget Disease, Extramammary

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Cosmic variations for Paget Disease, Extramammary:

8 (show top 50) (show all 112)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM85473645 TSHR skin,scrotum,carcinoma,NS c.979G>A p.E327K 14:81143037-81143037 8
2 COSM131090745 TSHR skin,scrotum,carcinoma,NS c.979G>A p.E327K 14:81143037-81143037 8
3 COSM123124384 TET2 skin,scrotum,carcinoma,NS c.3833C>T p.T1278M 4:105243745-105243745 8
4 COSM133376012 TET2 skin,scrotum,carcinoma,NS c.3770C>T p.T1257M 4:105243745-105243745 8
5 COSM98645072 TET2 skin,scrotum,carcinoma,NS c.3770C>T p.T1257M 4:105243745-105243745 8
6 COSM89622461 SF3B1 skin,scrotum,carcinoma,NS c.3661G>C p.E1221Q 2:197393067-197393067 8
7 COSM92933808 RBM10 skin,scrotum,carcinoma,NS c.502C>T p.R168W 23:47171133-47171133 8
8 COSM145517422 RBM10 skin,scrotum,carcinoma,NS c.201+1635C>T p.? 23:47171133-47171133 8
9 COSM100934282 RBM10 skin,scrotum,carcinoma,NS c.307C>T p.R103W 23:47171133-47171133 8
10 COSM90889863 RBM10 skin,scrotum,carcinoma,NS c.201+1635C>T p.? 23:47171133-47171133 8
11 COSM117792294 PIK3CB skin,scrotum,carcinoma,NS c.277G>C p.E93Q 3:138755874-138755874 8
12 COSM84193579 PIK3CB skin,scrotum,carcinoma,NS c.277G>C p.E93Q 3:138755874-138755874 8
13 COSM148932717 PIK3CA skin,scrotum,carcinoma,NS c.1624G>A p.E542K 3:179218294-179218294 8
14 COSM87132301 PIK3CA skin,scrotum,carcinoma,NS c.1624G>A p.E542K 3:179218294-179218294 8
15 COSM88066927 PBRM1 skin,scrotum,carcinoma,NS c.3057G>C p.K1019N 3:52587419-52587419 8
16 COSM102912184 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 8
17 COSM102946925 PBRM1 skin,scrotum,carcinoma,NS c.3102G>C p.K1034N 3:52587419-52587419 8
18 COSM101252563 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 8
19 COSM101262095 PBRM1 skin,scrotum,carcinoma,NS c.2982G>C p.K994N 3:52587419-52587419 8
20 COSM91773104 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 8
21 COSM91781187 PBRM1 skin,scrotum,carcinoma,NS c.3057G>C p.K1019N 3:52587419-52587419 8
22 COSM88059177 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 8
23 COSM93612884 PBRM1 skin,scrotum,carcinoma,NS c.2961G>C p.K987N 3:52587419-52587419 8
24 COSM102939249 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 8
25 COSM102542485 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 8
26 COSM104517624 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 8
27 COSM102551192 PBRM1 skin,scrotum,carcinoma,NS c.3057G>C p.K1019N 3:52587419-52587419 8
28 COSM104526481 PBRM1 skin,scrotum,carcinoma,NS c.2982G>C p.K994N 3:52587419-52587419 8
29 COSM93606074 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 8
30 COSM102919471 PBRM1 skin,scrotum,carcinoma,NS c.3102G>C p.K1034N 3:52587419-52587419 8
31 COSM87672471 NOTCH1 skin,scrotum,carcinoma,NS c.3759C>G p.C1253W 9:136506858-136506858 8
32 COSM93525650 NF1 skin,scrotum,carcinoma,NS c.3233C>G p.S1078* 17:31232108-31232108 8
33 COSM93672833 NF1 skin,scrotum,carcinoma,NS c.3233C>G p.S1078* 17:31232108-31232108 8
34 COSM94442171 MTOR skin,scrotum,carcinoma,NS c.4322G>C p.G1441A 1:11167449-11167449 8
35 COSM105101724 MRE11 skin,scrotum,carcinoma,NS c.1603C>G p.Q535E 11:94447408-94447408 8
36 COSM93071202 MRE11 skin,scrotum,carcinoma,NS c.1594C>G p.Q532E 11:94447408-94447408 8
37 COSM100740576 MRE11 skin,scrotum,carcinoma,NS c.1594C>G p.Q532E 11:94447408-94447408 8
38 COSM93110352 MRE11 skin,scrotum,carcinoma,NS c.1594C>G p.Q532E 11:94447408-94447408 8
39 COSM88424292 KMT2C skin,scrotum,carcinoma,NS c.13141G>A p.E4381K 7:152148786-152148786 8
40 COSM90831781 KMT2C skin,scrotum,carcinoma,NS c.13141G>A p.E4381K 7:152148786-152148786 8
41 COSM103019785 KDM5C skin,scrotum,carcinoma,NS c.4486G>C p.E1496Q 23:53193161-53193161 8
42 COSM98823890 KDM5C skin,scrotum,carcinoma,NS c.4489G>C p.E1497Q 23:53193161-53193161 8
43 COSM98764570 KDM5C skin,scrotum,carcinoma,NS c.4357G>C p.E1453Q 23:53193161-53193161 8
44 COSM98767398 KDM5C skin,scrotum,carcinoma,NS c.4381G>T p.E1461* 23:53193137-53193137 8
45 COSM111433924 KDM5C skin,scrotum,carcinoma,NS c.4047-324G>C p.? 23:53193161-53193161 8
46 COSM111437140 KDM5C skin,scrotum,carcinoma,NS c.4047-300G>T p.? 23:53193137-53193137 8
47 COSM98752143 KDM5C skin,scrotum,carcinoma,NS c.4480G>C p.E1494Q 23:53193161-53193161 8
48 COSM98755205 KDM5C skin,scrotum,carcinoma,NS c.4504G>T p.E1502* 23:53193137-53193137 8
49 COSM103022743 KDM5C skin,scrotum,carcinoma,NS c.4510G>T p.E1504* 23:53193137-53193137 8
50 COSM98827439 KDM5C skin,scrotum,carcinoma,NS c.4513G>T p.E1505* 23:53193137-53193137 8
Sources

Expression for Paget Disease, Extramammary

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Search GEO for disease gene expression data for Paget Disease, Extramammary.
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Pathways for Paget Disease, Extramammary

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Pathways related to Paget Disease, Extramammary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Keratinization 66
Show member pathways
 11.99 KRT7 KRT5 KRT20 KRT19
2
COPI-independent Golgi-to-ER retrograde traffic 66
Show member pathways
 11.75 KRT7 KRT5 KRT19 AR
3
Cytoskeletal Signaling 3
11.51 MUC1 KRT7 KRT5 KRT20 KRT19
Sources

GO Terms for Paget Disease, Extramammary

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Cellular components related to Paget Disease, Extramammary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.23 KRT7 KRT5 KRT20 KRT19
2 obsolete spanning component of plasma membrane GO:0044214 9.16 ERBB4 ERBB2
3 plasma membrane region GO:0098590 8.96 ERBB2 ERBB4

Biological processes related to Paget Disease, Extramammary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.33 ERBB4 ERBB2 CDX2
2 neurotransmitter receptor localization to postsynaptic specialization membrane GO:0099645 9.26 ERBB4 ERBB2
3 ERBB2-ERBB4 signaling pathway GO:0038135 9.26 ERBB4 ERBB2
4 intermediate filament organization GO:0045109 9.23 KRT7 KRT5 KRT20 KRT19
Sources

Sources for Paget Disease, Extramammary

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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