MCID: SPR013
MIFTS: 39

Spiradenoma

Categories: Rare diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Spiradenoma

MalaCards integrated aliases for Spiradenoma:

Name: Spiradenoma 12 14
Eccrine Spiradenoma 12 49 69
Benign Eccrine Spiradenoma 12 49
Eccrine Spiradenoma of Skin 12
Eccrine Spiradenoma, Benign 49
Es 49

Classifications:



External Ids:

Disease Ontology 12 DOID:5444
NCIt 46 C4170
SNOMED-CT 64 403938001 4977000
UMLS 69 C0334347

Summaries for Spiradenoma

MalaCards based summary : Spiradenoma, also known as eccrine spiradenoma, is related to malignant spiradenoma and brooke-spiegler syndrome. An important gene associated with Spiradenoma is RDH12 (Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis)), and among its related pathways/superpathways are Cytoskeletal Signaling and Interleukin-4 and 13 signaling. The drugs Erbitux and Evista have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and b cells.

Wikipedia : 72 Spiradenoma, also spiroma or eccrine spiradenoma, is a cutaneous condition that is typically... more...

Related Diseases for Spiradenoma

Diseases in the Spiradenoma family:

Malignant Spiradenoma

Diseases related to Spiradenoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 malignant spiradenoma 34.4 KRT7 TP53
2 brooke-spiegler syndrome 32.9 CYLD KRT14 KRT7
3 ewing sarcoma 30.3 ABCC6 IMPG2 RDH12 S100B TP53 VIM
4 mixed cell type cancer 30.2 KRT7 TP53
5 syringoma 30.2 MUC1 S100B VIM
6 hidradenoma 29.9 KRT7 MUC1 VIM
7 glomus tumor 29.9 ACTC1 TP53 VIM
8 epithelioid sarcoma 29.8 KRT7 MUC1 VIM
9 basal cell carcinoma 29.2 CYLD KRT14 KRT15 KRT7 TP53
10 benign eccrine breast spiradenoma 11.9
11 breast malignant eccrine spiradenoma 11.9
12 adnexal spiradenoma/cylindroma of a sweat gland 11.9
13 cylindromatosis, familial 11.1
14 diabetic mastopathy 11.0
15 anus basaloid carcinoma 10.6 CYLD KRT7
16 epidermal appendage tumor 10.5 CYLD TP53
17 benign breast adenomyoepithelioma 10.5 KRT14 KRT7
18 hydromyelia 10.5 S100B VIM
19 large cell acanthoma 10.5 KRT14 KRT7
20 oncocytic breast carcinoma 10.5 KRT14 KRT7
21 vulvar intraepithelial neoplasia 10.5 KRT7 TP53
22 bednar tumor 10.5 S100B VIM
23 female reproductive endometrioid cancer 10.5 KRT7 TP53
24 primary hepatic neuroendocrine carcinoma 10.5 S100B VIM
25 breast adenomyoepithelioma 10.5 KRT14 KRT7
26 breast myoepithelial neoplasm 10.5 KRT14 KRT7
27 bladder carcinoma in situ 10.5 KRT7 TP53
28 adenoid squamous cell carcinoma 10.5 KRT7 VIM
29 malignant giant cell tumor of soft parts 10.5 ACTC1 S100B
30 papillary serous adenocarcinoma 10.5 KRT7 TP53
31 microglandular adenosis 10.5 S100B TP53
32 nasal cavity adenocarcinoma 10.4 KRT7 TP53
33 myopericytoma 10.4 ACTC1 S100B
34 papillary adenoma 10.4 KRT7 VIM
35 localized hypertrophic neuropathy 10.4 MUC1 S100B
36 sclerosing perineurioma 10.4 MUC1 S100B
37 juvenile xanthogranuloma 10.4 S100B VIM
38 ameloblastic carcinoma 10.4 KRT14 VIM
39 intracranial cysts 10.4 MUC1 S100B
40 reticular perineurioma 10.4 MUC1 S100B
41 pleomorphic carcinoma 10.4 KRT7 TP53
42 medulloepithelioma 10.4 KRT7 VIM
43 metanephric adenoma 10.4 KRT7 VIM
44 adenomatoid tumor 10.4 KRT7 VIM
45 non-functioning pituitary adenoma 10.4 MUC1 S100B
46 epithelioid malignant peripheral nerve sheath tumor 10.4 MUC1 S100B
47 middle ear adenoma 10.4 KRT7 MUC1
48 lymphangiectasis 10.4 ACTC1 VIM
49 ependymoblastoma 10.4 TP53 VIM
50 endosalpingiosis 10.4 KRT7 MUC1

Graphical network of the top 20 diseases related to Spiradenoma:



Diseases related to Spiradenoma

Symptoms & Phenotypes for Spiradenoma

Drugs & Therapeutics for Spiradenoma

FDA approved drugs:

# Drug Name Active Ingredient(s) 17 Company Approval Date
1
Erbitux 17 45 CETUXIMAB Imclone, Bristol-Myers Squibb February 2004
2
Evista 17 45 RALOXIFENE HYDROCHLORIDE Eli Lilly September 2007
3
Istodax 17 45 ROMIDEPSIN Gloucester Pharmaceuticals November 2009
4
Treanda 17 45 BENDAMUSTINE HYDROCHLORIDE Cephalon October 2008

Search Clinical Trials , NIH Clinical Center for Spiradenoma

Genetic Tests for Spiradenoma

Anatomical Context for Spiradenoma

MalaCards organs/tissues related to Spiradenoma:

38
Skin, T Cells, B Cells, Endothelial, Testes, Colon, Bone

Publications for Spiradenoma

Articles related to Spiradenoma:

(show top 50) (show all 172)
# Title Authors Year
1
Sonographic appearance of an eccrine spiradenoma: A case report. ( 29271484 )
2017
2
A Case of Eccrine Spiradenoma: A Rarely Seen Soft Tissue Tumor on the Extensor Surface of Arm. ( 28761313 )
2017
3
Ultrasonographic Features of Eccrine Spiradenoma. ( 29120034 )
2017
4
FDG PET/CT in Malignant Eccrine Spiradenoma. ( 28005641 )
2017
5
Spiradenoma ( 28846324 )
2017
6
Myoepithelial-Rich and Infiltrative Giant Vascular Eccrine Spiradenoma: A Unique Presentation of a Rare Adnexal Tumor. ( 28984693 )
2017
7
Eccrine spiradenoma mimicking a painful traumatic neuroma: case report. ( 29076781 )
2017
8
Eccrine Spiradenoma of the Scalp. ( 29090205 )
2017
9
A rare case of eccrine spiradenoma-treatment and management. ( 27069311 )
2016
10
Giant vascular eccrine spiradenoma of the leg: MR imaging findings. ( 27397887 )
2016
11
Spiradenoma causing longitudinal splitting of the nail. ( 27663150 )
2016
12
Lymphangiectatic Variant of Eccrine Spiradenoma - A Diagnostic Challenge. ( 28806004 )
2016
13
Distinctive immunostaining of claudin-4 in spiradenomas. ( 26616722 )
2016
14
Malignant eccrine breast spiradenoma. A case report and literature review. ( 26318134 )
2015
15
Malignant Spiradenoma: a Giant Cutaneous Adnexal Tumor. ( 26563774 )
2015
16
Spiradenocarcinoma in Preexisting Spiradenoma With a Large In Situ Adenocarcinoma Component. ( 25830720 )
2015
17
A serpentine inside eccrine spiradenoma: a new trichoscopic sign. ( 25878450 )
2015
18
Sonographic and sonoelastographic findings of a rarely seen soft tissue tumor: eccrine spiradenoma. ( 26576987 )
2015
19
Malignant Eccrine Spiradenoma of the Face. ( 26167988 )
2015
20
Multiple Segmental Eccrine Spiradenoma with a Zosteriform Pattern: A Case Report and Literature Review. ( 26273161 )
2015
21
Zosteriform spiradenoma with spiradenocarcinoma: A rare entity. ( 26904446 )
2015
22
Trichoepithelioma and spiradenoma collision tumor. ( 25942028 )
2015
23
Malignant eccrine spiradenoma of the external ear. ( 26211868 )
2015
24
Inexplicable Co- Existence of Eccrine Spiradenoma and Lichen Planus in an old Case of Basal Cell Carcinoma. ( 25737995 )
2015
25
Eccrine Spiradenoma Arising from the Breast Skin. ( 26236527 )
2015
26
Giant Vascular Eccrine Spiradenoma. ( 26365030 )
2015
27
Giant eccrine spiradenoma mimicking a malignant tumor. ( 25566913 )
2015
28
Spiradenoma and cylindroma originate from the hair follicle bulge and not from the eccrine sweat gland: an immunohistochemical study with CD200 and other stem cell markers. ( 25354097 )
2014
29
Fine needle aspiration cytology of eccrine spiradenoma of back: report of a rare case. ( 25328342 )
2014
30
A malignant eccrine spiradenoma of the scalp. ( 24842352 )
2014
31
Differential diagnosis of eccrine spiradenoma: A case report. ( 25187803 )
2014
32
Cystic eccrine spiradenoma of the finger mimicking a ganglion. ( 25289292 )
2014
33
Tubular Spitz Naevus Mimicking Eccrine Spiradenoma. ( 23756597 )
2014
34
Eccrine spiradenoma in knee. ( 25284865 )
2014
35
Case of recurrence of spiradenoma in palpebral conjunctiva. ( 24969313 )
2014
36
Neonatal spiradenoma. ( 22747799 )
2013
37
Immunohistochemical characterization of non-epithelial cells in spiradenoma. ( 24580131 )
2013
38
Giant vascular eccrine spiradenoma mimicking calcifying epithelioma. ( 23961898 )
2013
39
Infiltrative Recurrent Eccrine Spiradenoma of the Anterior Neck Treated Using Mohs Micrographic Surgery. ( 24118397 )
2013
40
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. ( 24261740 )
2013
41
Malignant spiradenoma/cylindroma of the vulva. ( 23147883 )
2012
42
Painful eccrine spiradenoma containing nerve fibers: a case report. ( 22777362 )
2012
43
Dermatoscopic pattern of a spiradenoma. ( 23785623 )
2012
44
Malignant eccrine spiradenoma: a meta-analysis of reported cases. ( 20851376 )
2011
45
Carcinosarcoma ex eccrine spiradenoma of the vulva: report of the first case. ( 21464722 )
2011
46
Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expression. ( 21598248 )
2011
47
A rare case of giant malignant eccrine spiradenoma. ( 21342314 )
2011
48
Giant vascular eccrine spiradenoma. ( 22148049 )
2011
49
Eccrine spiradenoma arising in the breast misdiagnosed as an epidermal inclusion cyst. ( 21430945 )
2011
50
Differential considerations of skin tumours with florid vascularisation: report of a solitary giant vascular eccrine spiradenoma. ( 22689604 )
2011

Variations for Spiradenoma

ClinVar genetic disease variations for Spiradenoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS13B NM_017890.4(VPS13B): c.2591C> A (p.Ser864Ter) single nucleotide variant Pathogenic/Likely pathogenic rs140936527 GRCh37 Chromosome 8, 100286501: 100286501
2 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh37 Chromosome 14, 68196055: 68196059
3 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 GRCh37 Chromosome 16, 16256967: 16256967
4 CNGA3 NM_001298.2(CNGA3): c.1688G> A (p.Arg563His) single nucleotide variant Pathogenic/Likely pathogenic rs552069173 GRCh37 Chromosome 2, 99013321: 99013321
5 CNGB3 NM_019098.4(CNGB3): c.1285delT (p.Ser429Leufs) deletion Pathogenic/Likely pathogenic rs776896038 GRCh37 Chromosome 8, 87645015: 87645015
6 ABCC6 NM_001171.5(ABCC6): c.4104delC (p.Asp1368Glufs) deletion Pathogenic rs72664237 GRCh38 Chromosome 16, 16154732: 16154732
7 IMPG2 NM_016247.3(IMPG2): c.1680T> A (p.Tyr560Ter) single nucleotide variant Pathogenic rs758291149 GRCh37 Chromosome 3, 100963495: 100963495

Expression for Spiradenoma

Search GEO for disease gene expression data for Spiradenoma.

Pathways for Spiradenoma

Pathways related to Spiradenoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.41 ACTC1 KRT7 MUC1 VIM
2 11.39 MUC1 TP53 VIM
3
Show member pathways
11.17 KRT14 KRT7 VIM

GO Terms for Spiradenoma

Cellular components related to Spiradenoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.92 KRT14 KRT15 KRT7 VIM

Biological processes related to Spiradenoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.96 MUC1 TP53
2 cornification GO:0070268 8.8 KRT14 KRT15 KRT7

Molecular functions related to Spiradenoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of cytoskeleton GO:0005200 9.13 KRT14 KRT15 VIM
2 keratin filament binding GO:1990254 8.62 KRT14 VIM

Sources for Spiradenoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....