MCID: SPR013
MIFTS: 35

Spiradenoma

Categories: Rare diseases, Cancer diseases, Skin diseases

Aliases & Classifications for Spiradenoma

MalaCards integrated aliases for Spiradenoma:

Name: Spiradenoma 12 14
Eccrine Spiradenoma 12 50 69
Benign Eccrine Spiradenoma 12 50
Eccrine Spiradenoma of Skin 12
Eccrine Spiradenoma, Benign 50
Es 50

Classifications:



External Ids:

Disease Ontology 12 DOID:5444
NCIt 47 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 breast malignant eccrine spiradenoma. An important gene associated with Spiradenoma is RDH12 (Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis)), and among its related pathways/superpathways is 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 248)
id Related Disease Score Top Affiliating Genes
1 malignant spiradenoma 12.3
2 breast malignant eccrine spiradenoma 11.8
3 adnexal spiradenoma/cylindroma of a sweat gland 11.8
4 benign eccrine breast spiradenoma 11.8
5 brooke-spiegler syndrome 11.5
6 ewing sarcoma 11.2
7 cylindromatosis, familial 11.0
8 diabetic mastopathy 10.9
9 dermis tumor 10.8 CYLD TP53
10 logopenic progressive aphasia 10.8 MUC1 S100B
11 heiner syndrome 10.8 MUC1 S100B
12 meningitis and encephalitis 10.7 MUC1 S100B
13 dedifferentiated liposarcoma 10.7 MUC1 S100B
14 simple cryoglobulinemia 10.7 MUC1 S100B
15 mucinous ovarian cystadenoma 10.7 MUC1 S100B
16 enteric pattern testicular yolk sac tumor 10.7 MUC1 S100B
17 immune-mediated encephalomyelitis 10.7 S100B VIM
18 benallegue lacete syndrome 10.7 S100B VIM
19 2q31.1 microdeletion syndrome 10.7 MUC1 VIM
20 gastric papillary adenocarcinoma 10.7 MUC1 S100B
21 neurogenic thoracic outlet syndrome 10.7 S100B VIM
22 breast fibrosarcoma 10.7 S100B TP53
23 localized pulmonary fibrosis 10.7 ACTC1 S100B
24 connective tissue benign neoplasm 10.7 CYLD KRT14
25 juvenile nasopharyngeal angiofibroma 10.7 ACTC1 S100B
26 amelogenesis imperfecta local hypoplastic 10.7 KRT14 VIM
27 small intestine neuroendocrine neoplasm 10.7 S100B VIM
28 myeloid/lymphoid neoplasm associated with pdgfra rearrangement 10.6 MUC1 VIM
29 malignant breast melanoma 10.6 S100B VIM
30 aggressive systemic mastocytosis 10.6 TP53 VIM
31 mannose-binding lectin protein deficiency 10.6 MUC1 VIM
32 leiomyoma cutis 10.6 ACTC1 TP53
33 vulvar angiokeratoma 10.6 MUC1 VIM
34 strabismus 10.6 MUC1 S100B
35 olivopontocerebellar atrophy deafness 10.6 KRT14 VIM
36 uterine corpus adenofibroma 10.6 MUC1 TP53
37 phobic disorder 10.6 MUC1 S100B
38 vaginal adenoma 10.6 KRT14 MUC1
39 pyoderma 10.6 MUC1 VIM
40 bladder colloid adenocarcinoma 10.6 MUC1 VIM
41 cellular ependymoma 10.6 MUC1 VIM
42 liver disease 10.6 KRT14 MUC1
43 persian gulf syndrome 10.6 MUC1 VIM
44 diffuse meningeal melanocytosis 10.6 MUC1 VIM
45 lymphocytic hypophysitis 10.6 ACTC1 VIM
46 ovary papillary carcinoma 10.6 MUC1 VIM
47 childhood pleomorphic rhabdomyosarcoma 10.6 MUC1 VIM
48 gastric signet ring cell adenocarcinoma 10.6 ACTC1 VIM
49 oligomeganephronic renal hypoplasia 10.6 S100B VIM
50 aortic aneurysm 10.6 ACTC1 VIM

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:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Erbitux 17 46 CETUXIMAB Imclone, Bristol-Myers Squibb February 2004
2
Evista 17 46 RALOXIFENE HYDROCHLORIDE Eli Lilly September 2007
3
Istodax 17 46 ROMIDEPSIN Gloucester Pharmaceuticals November 2009
4
Treanda 17 46 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:

39
Skin, T Cells, B Cells, Endothelial, Testes, Colon, Bone

Publications for Spiradenoma

Articles related to Spiradenoma:

(show top 50) (show all 167)
id Title Authors Year
1
FDG PET/CT in Malignant Eccrine Spiradenoma. ( 28005641 )
2017
2
Spiradenoma ( 28846324 )
2017
3
A Case of Eccrine Spiradenoma: A Rarely Seen Soft Tissue Tumor on the Extensor Surface of Arm. ( 28761313 )
2017
4
Distinctive immunostaining of claudin-4 in spiradenomas. ( 26616722 )
2016
5
Giant vascular eccrine spiradenoma of the leg: MR imaging findings. ( 27397887 )
2016
6
Lymphangiectatic Variant of Eccrine Spiradenoma - A Diagnostic Challenge. ( 28806004 )
2016
7
Spiradenoma causing longitudinal splitting of the nail. ( 27663150 )
2016
8
A rare case of eccrine spiradenoma-treatment and management. ( 27069311 )
2016
9
Inexplicable Co- Existence of Eccrine Spiradenoma and Lichen Planus in an old Case of Basal Cell Carcinoma. ( 25737995 )
2015
10
Spiradenocarcinoma in Preexisting Spiradenoma With a Large In Situ Adenocarcinoma Component. ( 25830720 )
2015
11
Sonographic and sonoelastographic findings of a rarely seen soft tissue tumor: eccrine spiradenoma. ( 26576987 )
2015
12
Trichoepithelioma and spiradenoma collision tumor. ( 25942028 )
2015
13
Malignant eccrine breast spiradenoma. A case report and literature review. ( 26318134 )
2015
14
Multiple Segmental Eccrine Spiradenoma with a Zosteriform Pattern: A Case Report and Literature Review. ( 26273161 )
2015
15
Eccrine Spiradenoma Arising from the Breast Skin. ( 26236527 )
2015
16
Malignant Eccrine Spiradenoma of the Face. ( 26167988 )
2015
17
Giant Vascular Eccrine Spiradenoma. ( 26365030 )
2015
18
A serpentine inside eccrine spiradenoma: a new trichoscopic sign. ( 25878450 )
2015
19
Giant eccrine spiradenoma mimicking a malignant tumor. ( 25566913 )
2015
20
Malignant Spiradenoma: a Giant Cutaneous Adnexal Tumor. ( 26563774 )
2015
21
Zosteriform spiradenoma with spiradenocarcinoma: A rare entity. ( 26904446 )
2015
22
Malignant eccrine spiradenoma of the external ear. ( 26211868 )
2015
23
Tubular Spitz Naevus Mimicking Eccrine Spiradenoma. ( 23756597 )
2014
24
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
25
Fine needle aspiration cytology of eccrine spiradenoma of back: report of a rare case. ( 25328342 )
2014
26
Differential diagnosis of eccrine spiradenoma: A case report. ( 25187803 )
2014
27
A malignant eccrine spiradenoma of the scalp. ( 24842352 )
2014
28
Case of recurrence of spiradenoma in palpebral conjunctiva. ( 24969313 )
2014
29
Cystic eccrine spiradenoma of the finger mimicking a ganglion. ( 25289292 )
2014
30
Eccrine spiradenoma in knee. ( 25284865 )
2014
31
Neonatal spiradenoma. ( 22747799 )
2013
32
Infiltrative Recurrent Eccrine Spiradenoma of the Anterior Neck Treated Using Mohs Micrographic Surgery. ( 24118397 )
2013
33
Giant vascular eccrine spiradenoma mimicking calcifying epithelioma. ( 23961898 )
2013
34
Immunohistochemical characterization of non-epithelial cells in spiradenoma. ( 24580131 )
2013
35
Brooke-Spiegler syndrome associated with cylindroma, trichoepithelioma and eccrine spiradenoma. ( 24261740 )
2013
36
Malignant spiradenoma/cylindroma of the vulva. ( 23147883 )
2012
37
Painful eccrine spiradenoma containing nerve fibers: a case report. ( 22777362 )
2012
38
Dermatoscopic pattern of a spiradenoma. ( 23785623 )
2012
39
Eccrine spiradenoma arising in the breast misdiagnosed as an epidermal inclusion cyst. ( 21430945 )
2011
40
Giant vascular eccrine spiradenoma. ( 22148049 )
2011
41
A rare case of giant malignant eccrine spiradenoma. ( 21342314 )
2011
42
Malignant eccrine spiradenoma: a meta-analysis of reported cases. ( 20851376 )
2011
43
Alteration of the I^-catenin pathway in spiradenoma. ( 21518380 )
2011
44
Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expression. ( 21598248 )
2011
45
Carcinosarcoma ex eccrine spiradenoma of the vulva: report of the first case. ( 21464722 )
2011
46
Differential considerations of skin tumours with florid vascularisation: report of a solitary giant vascular eccrine spiradenoma. ( 22689604 )
2011
47
Malignant eccrine spiradenoma: a new case report. ( 19614990 )
2010
48
Spiradenoma with marked adenomyoepitheliomatous features. ( 20859082 )
2010
49
Malignant eccrine spiradenoma: case report and review of the literature, including 15 Japanese cases. ( 19222500 )
2010
50
Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. ( 20075707 )
2010

Variations for Spiradenoma

ClinVar genetic disease variations for Spiradenoma:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RDH12 NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs) deletion Pathogenic rs386834261 GRCh37 Chromosome 14, 68196055: 68196059
2 ABCC6 NM_001171.5(ABCC6): c.3389C> T (p.Thr1130Met) single nucleotide variant Pathogenic/Likely pathogenic rs63750459 GRCh37 Chromosome 16, 16256967: 16256967
3 VPS13B NM_017890.4(VPS13B): c.2591C> A (p.Ser864Ter) single nucleotide variant Pathogenic/Likely pathogenic rs140936527 GRCh37 Chromosome 8, 100286501: 100286501
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 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:

id Super pathways Score Top Affiliating Genes
1 10.86 MUC1 TP53 VIM

GO Terms for Spiradenoma

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

id Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 8.8 KRT14 KRT15 VIM

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

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.33 ABCC6 IMPG2 RDH12
2 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.96 MUC1 TP53
3 epithelial cell differentiation GO:0030855 8.8 GSTA2 KRT14 MUC1

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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