MCID: PGT003
MIFTS: 38

Paget Disease, Extramammary

Categories: Rare diseases, Reproductive diseases, Cancer diseases, Skin diseases

Aliases & Classifications for Paget Disease, Extramammary

MalaCards integrated aliases for Paget Disease, Extramammary:

Name: Paget Disease, Extramammary 57 53 44
Paget Disease Extramammary 76 73
Extramammary Paget Disease 53 59
Cutaneous Paget's Disease 12 15
Extramammary Paget's Disease 12
Extramammary Pagets Disease 55
Cutaneous Paget Disease 12
Paget's Disease of Skin 12
Empd 53

Characteristics:

OMIM:

57
Inheritance:
rare familial cases


Classifications:



External Ids:

OMIM 57 167300
Disease Ontology 12 DOID:3450
MeSH 44 D010145
NCIt 50 C3302
Orphanet 59 ORPHA2800
ICD10 via Orphanet 34 C44.5
UMLS via Orphanet 74 C0030186
MESH via Orphanet 45 D010145
MedGen 42 C0030186
UMLS 73 C0030186

Summaries for Paget Disease, Extramammary

NIH Rare Diseases : 53 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, EPMD may occur in the vulva, perianal region, scrotum, penis, and axilla. EPMD most often occurs in women between age 50 to 60. About 25 percent of extramammary Paget disease is associated with an underlying cancer. Treatment typically includes surgery.Prognosis varies depending on how early the disorder was diagnosed and treated as well as the association with an underlying cancer.

MalaCards based summary : Paget Disease, Extramammary, also known as paget disease extramammary, is related to hidradenoma and transitional cell carcinoma. An important gene associated with Paget Disease, Extramammary is KRT7 (Keratin 7), and among its related pathways/superpathways is Alzheimers Disease Pathway. The drugs Imiquimod and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are eczematoid dermatitis and neoplasm

Disease Ontology : 12 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 : 76 Extramammary Paget’s Disease (EMPD), is a rare and slow-growing malignancy which occurs within the... more...

Description from OMIM: 167300

Related Diseases for Paget Disease, Extramammary

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

(show top 50) (show all 174)
# Related Disease Score Top Affiliating Genes
1 hidradenoma 30.8 KRT7 MUC1
2 transitional cell carcinoma 30.6 ERBB2 KRT20 KRT7
3 bladder urothelial carcinoma 30.3 ERBB2 KRT20 KRT7
4 cystic basal cell carcinoma 10.8 KRT20 KRT7
5 vaginal benign neoplasm 10.8 KRT20 KRT7
6 seminal vesicle adenocarcinoma 10.8 KRT20 KRT7
7 transverse colon cancer 10.8 KRT20 KRT7
8 appendix adenocarcinoma 10.8 KRT20 KRT7
9 ovarian large-cell neuroendocrine carcinoma 10.8 KRT20 KRT7
10 vaginal adenoma 10.8 KRT20 KRT7
11 vaginal tubulovillous adenoma 10.8 KRT20 KRT7
12 eyelid neoplasm 10.8 KRT20 KRT7
13 glandular cystitis 10.8 KRT20 KRT7
14 malignant syringoma 10.8 KRT20 KRT7
15 krukenberg carcinoma 10.8 KRT20 KRT7
16 linitis plastica 10.8 KRT20 KRT7
17 lung acinar adenocarcinoma 10.8 KRT20 KRT7
18 small cell carcinoma of the bladder 10.8 KRT20 KRT7
19 adenoid squamous cell carcinoma 10.7 KRT20 KRT7
20 eccrine sweat gland neoplasm 10.7 KRT20 KRT7
21 intratubular embryonal carcinoma 10.7 KRT20 KRT7
22 ovarian mucinous adenocarcinoma 10.7 KRT20 KRT7
23 thymus adenocarcinoma 10.7 KRT20 KRT7
24 gastric diffuse adenocarcinoma 10.7 KRT20 KRT7
25 bladder lymphoma 10.7 KRT20 KRT7
26 papillary serous adenocarcinoma 10.7 KRT20 KRT7
27 bladder adenocarcinoma 10.7 KRT20 KRT7
28 jejunal adenocarcinoma 10.7 KRT20 KRT7
29 chronic cystitis 10.7 KRT20 KRT7
30 solid adenocarcinoma with mucin production 10.7 KRT7 MUC1
31 medulloepithelioma 10.7 KRT20 KRT7
32 glycogen-rich clear cell breast carcinoma 10.7 KRT20 KRT7
33 rectum adenocarcinoma 10.7 KRT20 KRT7
34 renal pelvis carcinoma 10.7 KRT20 KRT7
35 endosalpingiosis 10.7 KRT7 MUC1
36 parachordoma 10.7 KRT7 MUC1
37 bile duct mucoepidermoid carcinoma 10.7 KRT7 MUC1
38 middle ear adenoma 10.7 KRT7 MUC1
39 malignant mixed mullerian tumor 10.7 KRT7 MUC1
40 endocervical adenocarcinoma 10.7 KRT20 KRT7
41 monophasic synovial sarcoma 10.7 KRT7 MUC1
42 nephrogenic adenoma 10.6 KRT7 MUC1
43 adenomyoma 10.6 KRT7 MUC1
44 immune system organ benign neoplasm 10.6 KRT20 KRT7
45 thymus lipoma 10.6 KRT20 KRT7
46 breast mucoepidermoid carcinoma 10.6 ERBB2 MUC1
47 spiradenoma 10.6 KRT7 MUC1
48 mucinous ovarian cystadenoma 10.6 KRT7 MUC1
49 ovarian mucinous neoplasm 10.6 KRT20 KRT7
50 cystic teratoma 10.6 KRT20 KRT7

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



Diseases related to Paget Disease, Extramammary

Symptoms & Phenotypes for Paget Disease, Extramammary

Symptoms via clinical synopsis from OMIM:

57
Oncology:
extramammary paget disease
internal malignancy

Skin:
eczematous eruptions with weeping and crust formation


Clinical features from OMIM:

167300

Human phenotypes related to Paget Disease, Extramammary:

32
# Description HPO Frequency HPO Source Accession
1 eczematoid dermatitis 32 HP:0000976
2 neoplasm 32 HP:0002664

Drugs & Therapeutics for Paget Disease, Extramammary

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imiquimod Approved, Investigational Phase 3,Not Applicable 99011-02-6 57469
2
Acetaminophen Approved Phase 3 103-90-2 1983
3
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
4
Petrolatum Approved, Investigational Phase 3 8009-03-8
5 Adjuvants, Immunologic Phase 3,Not Applicable
6 Interferon Inducers Phase 3,Not Applicable
7 interferons Phase 3,Not Applicable
8 Analgesics Phase 3
9 Analgesics, Non-Narcotic Phase 3
10 Anesthetics Phase 3
11 Anesthetics, Local Phase 3
12 Anti-Arrhythmia Agents Phase 3
13 Antipyretics Phase 3
14 Central Nervous System Depressants Phase 3
15 Dermatologic Agents Phase 3
16 Diuretics, Potassium Sparing Phase 3
17 Emollients Phase 3
18 Peripheral Nervous System Agents Phase 3
19 Sodium Channel Blockers Phase 3
20
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Topical 5% Imiquimod Cream for Vulvar Paget's Disease Active, not recruiting NCT02385188 Phase 3 Imiquimod;paracetamol;lidocaine in Vaseline ointment
2 Topical Imiquimod in Treating Patients With Recurrent Paget's Disease of the Vulva Completed NCT00504023 Not Applicable imiquimod
3 Videoscopic Versus Open Inguinal Lymphadenectomy for Cancer Completed NCT01526486 Not Applicable
4 Gynecologic Extramammary Paget's Disease Recruiting NCT03564483

Search NIH Clinical Center for Paget Disease, Extramammary

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: paget disease, extramammary

Genetic Tests for Paget Disease, Extramammary

Anatomical Context for Paget Disease, Extramammary

MalaCards organs/tissues related to Paget Disease, Extramammary:

41
Skin

Publications for Paget Disease, Extramammary

Articles related to Paget Disease, Extramammary:

# Title Authors Year
1
Paget Disease, Extramammary ( 29630276 )
2018

Variations for Paget Disease, Extramammary

Cosmic variations for Paget Disease, Extramammary:

9
(show top 50) (show all 73)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6906973 SMARCA4 breast,extramammary,carcinoma in situ,Pagets disease c.1111G>T p.E371* 19:10987917-10987917 21
2 COSM6906974 PPP2R1A breast,extramammary,carcinoma in situ,Pagets disease c.510C>A p.F170L 19:52212692-52212692 21
3 COSM12458 PIK3CA breast,extramammary,carcinoma in situ,Pagets disease c.1634A>C p.E545A 3:179218304-179218304 21
4 COSM775 PIK3CA breast,extramammary,carcinoma in situ,Pagets disease c.3140A>G p.H1047R 3:179234297-179234297 21
5 COSM774 PIK3CA breast,extramammary,carcinoma in situ,Pagets disease c.3139C>T p.H1047Y 3:179234296-179234296 21
6 COSM763 PIK3CA breast,extramammary,carcinoma in situ,Pagets disease c.1633G>A p.E545K 3:179218303-179218303 21
7 COSM580 NRAS breast,extramammary,carcinoma in situ,Pagets disease c.181C>A p.Q61K 1:114713909-114713909 21
8 COSM565 NRAS breast,extramammary,carcinoma in situ,Pagets disease c.35G>C p.G12A 1:114716126-114716126 21
9 COSM521 KRAS breast,extramammary,carcinoma in situ,Pagets disease c.35G>A p.G12D 12:25245350-25245350 21
10 COSM532 KRAS breast,extramammary,carcinoma in situ,Pagets disease c.38G>A p.G13D 12:25245347-25245347 21
11 COSM516 KRAS breast,extramammary,carcinoma in situ,Pagets disease c.34G>T p.G12C 12:25245351-25245351 21
12 COSM6906971 H3F3A breast,extramammary,carcinoma in situ,Pagets disease c.218G>A p.R73Q 1:226065745-226065745 21
13 COSM48358 ERBB2 breast,extramammary,carcinoma in situ,Pagets disease c.929C>T p.S310F 17:39711955-39711955 21
14 COSM5174142 breast,extramammary,carcinoma in situ,Pagets disease c.884C>T p.S295F 17:39711955-39711955 21
15 COSM6906972 breast,extramammary,carcinoma in situ,Pagets disease c.1111G>T p.E371* 19:10987917-10987917 21
16 COSM6964823 breast,extramammary,carcinoma in situ,Pagets disease c.659C>T p.T220M 1:39897898-39897898 21
17 COSM6910070 TSHR skin,scrotum,carcinoma,NS c.979G>A p.E327K 14:81143037-81143037 6
18 COSM6910056 TET2 skin,scrotum,carcinoma,NS c.3770C>T p.T1257M 4:105243745-105243745 6
19 COSM350539 SF3B1 skin,scrotum,carcinoma,NS c.3661G>C p.E1221Q 2:197393067-197393067 6
20 COSM6763755 RBM10 skin,scrotum,carcinoma,NS c.307C>T p.R103W 23:47171133-47171133 6
21 COSM6910055 PIK3CB skin,scrotum,carcinoma,NS c.277G>C p.E93Q 3:138755874-138755874 6
22 COSM760 PIK3CA skin,scrotum,carcinoma,NS c.1624G>A p.E542K 3:179218294-179218294 6
23 COSM1732193 PBRM1 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 6
24 COSM6910053 PBRM1 skin,scrotum,carcinoma,NS c.3057G>C p.K1019N 3:52587419-52587419 6
25 COSM6910066 NOTCH1 skin,scrotum,carcinoma,NS c.3759C>G p.C1253W 9:136506858-136506858 6
26 COSM6481990 NF1 skin,scrotum,carcinoma,NS c.3233C>G p.S1078* 17:31232108-31232108 6
27 COSM6910047 MTOR skin,scrotum,carcinoma,NS c.4322G>C p.G1441A 1:11167449-11167449 6
28 COSM6910068 MRE11 skin,scrotum,carcinoma,NS c.1594C>G p.Q532E 11:94447408-94447408 6
29 COSM6910063 KMT2C skin,scrotum,carcinoma,NS c.13141G>A p.E4381K 7:152148786-152148786 6
30 COSM6910080 KDM5C skin,scrotum,carcinoma,NS c.4513G>T p.E1505* 23:53193137-53193137 6
31 COSM4110035 KDM5C skin,scrotum,carcinoma,NS c.4489G>C p.E1497Q 23:53193161-53193161 6
32 COSM6910059 ESR1 skin,scrotum,carcinoma,NS c.1311G>A p.M437I 6:152061066-152061066 6
33 COSM6910078 EP300 skin,scrotum,carcinoma,NS c.568C>T p.Q190* 22:41117660-41117660 6
34 COSM6910061 EGFR skin,scrotum,carcinoma,NS c.3577G>T p.E1193* 7:55205561-55205561 6
35 COSM6910075 DOT1L skin,scrotum,carcinoma,NS c.2948C>G p.S983C 19:2222117-2222117 6
36 COSM6910069 CBL skin,scrotum,carcinoma,NS c.1342G>C p.E448Q 11:119278624-119278624 6
37 COSM6910081 ATRX skin,scrotum,carcinoma,NS c.203C>T p.S68L 23:77697622-77697622 6
38 COSM6910051 ASXL2 skin,scrotum,carcinoma,NS c.1291C>G p.P431A 2:25744266-25744266 6
39 COSM6910049 ASXL2 skin,scrotum,carcinoma,NS c.2041G>A p.E681K 2:25742745-25742745 6
40 COSM6910083 skin,scrotum,carcinoma,NS c.86C>T p.S29L 23:77697622-77697622 6
41 COSM1732192 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 6
42 COSM1732194 skin,scrotum,carcinoma,NS c.715-1G>C p.? 3:52648443-52648443 6
43 COSM6910050 skin,scrotum,carcinoma,NS c.2071C>G p.P691A 2:25744266-25744266 6
44 COSM6910052 skin,scrotum,carcinoma,NS c.2961G>C p.K987N 3:52587419-52587419 6
45 COSM4110034 skin,scrotum,carcinoma,NS c.4489G>C p.E1497Q 23:53193161-53193161 6
46 COSM6910073 skin,scrotum,carcinoma,NS c.158C>G p.S53W 16:67029806-67029806 6
47 COSM6481989 skin,scrotum,carcinoma,NS c.3233C>G p.S1078* 17:31232108-31232108 6
48 COSM6910067 skin,scrotum,carcinoma,NS c.1594C>G p.Q532E 11:94447408-94447408 6
49 COSM6910082 skin,scrotum,carcinoma,NS c.203C>T p.S68L 23:77697622-77697622 6
50 COSM125369 skin,scrotum,carcinoma,NS c.1624G>A p.E542K 3:179218294-179218294 6

Expression for Paget Disease, Extramammary

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

Pathways for Paget Disease, Extramammary

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

# Super pathways Score Top Affiliating Genes
1 10.28 ERBB2 ERBB4

GO Terms for Paget Disease, Extramammary

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

# Name GO ID Score Top Affiliating Genes
1 basal plasma membrane GO:0009925 8.62 ERBB2 ERBB4

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.43 AR ERBB2 ERBB4
2 cellular response to epidermal growth factor stimulus GO:0071364 9.4 ERBB2 ERBB4
3 ERBB2 signaling pathway GO:0038128 9.37 ERBB2 ERBB4
4 regulation of cell motility GO:2000145 9.32 ERBB2 ERBB4
5 mammary gland alveolus development GO:0060749 9.16 AR ERBB4
6 negative regulation of ERBB signaling pathway GO:1901185 8.96 ERBB2 ERBB4
7 positive regulation of transcription by RNA polymerase III GO:0045945 8.62 AR ERBB2

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

# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 9.13 AR ERBB2 PIP
2 obsolete signal transducer, downstream of receptor, with protein tyrosine kinase activity GO:0004716 8.62 ERBB2 ERBB4

Sources for Paget Disease, Extramammary

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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