MCID: SKN009
MIFTS: 30

Skin Granular Cell Tumor

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Skin Granular Cell Tumor

MalaCards integrated aliases for Skin Granular Cell Tumor:

Name: Skin Granular Cell Tumor 12 15
Granular Cell Neoplasm of the Skin 12
Granular Cell Tumour of Skin 12
Granular Cell Tumor of Skin 12
Skin Granular Cell Tumour 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2410
NCIt 50 C5617
SNOMED-CT 67 254763007
UMLS 70 C0346060

Summaries for Skin Granular Cell Tumor

MalaCards based summary : Skin Granular Cell Tumor, also known as granular cell neoplasm of the skin, is related to malignant granular cell skin tumor and noonan syndrome-like disorder with loose anagen hair 1. An important gene associated with Skin Granular Cell Tumor is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are Developmental Biology and Cytokine Signaling in Immune system. Affiliated tissues include skin, and related phenotypes are Decreased cell migration and Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation

Related Diseases for Skin Granular Cell Tumor

Diseases in the Skin Granular Cell Tumor family:

Malignant Granular Cell Skin Tumor

Diseases related to Skin Granular Cell Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 malignant granular cell skin tumor 11.4
2 noonan syndrome-like disorder with loose anagen hair 1 10.3 SHOC2 PTPN11
3 granular cell tumor 10.2
4 noonan syndrome 3 10.2 SOS1 SHOC2 PTPN11
5 heart septal defect 10.2 SOS1 SHOC2 PTPN11
6 patent ductus arteriosus 1 10.2 SOS1 SHOC2 PTPN11
7 ritscher-schinzel syndrome 2 10.2 PLEK MCF2
8 noonan syndrome and noonan-related syndrome 10.2 SOS1 PTPN11 MAP2K2
9 atrial heart septal defect 10.1 SOS1 SHOC2 PTPN11
10 autoimmune retinopathy 10.1 ENO2 ENO1
11 lymphocytic hypophysitis 10.1 ENO2 ENO1
12 villonodular synovitis 10.1 SOS1 PTPN11 CD68
13 cryptorchidism, unilateral or bilateral 10.0 SOS1 SHOC2 PTPN11
14 cancer-associated retinopathy 10.0 ENO2 ENO1
15 congenital epulis 10.0 ENO2 CD68
16 epulis 10.0 ENO2 CD68
17 retroperitoneal hemangiopericytoma 10.0 ENO2 CD68
18 breast leiomyosarcoma 10.0 ENO2 CD68
19 pulmonic stenosis 10.0 SOS1 NF1
20 myoblastoma 10.0 ENO2 CD68
21 congenital granular cell tumor 10.0 ENO2 CD68
22 pulmonary artery leiomyosarcoma 10.0 ENO2 CD68
23 malignant granular cell myoblastoma 10.0 ENO2 CD68
24 gliofibroma 9.9 PTPN11 NF1
25 conventional fibrosarcoma 9.9 ENO2 CD68
26 cardiomyopathy, familial hypertrophic, 25 9.9 MAP2K2 MAP2K1
27 noonan syndrome-like disorder with loose anagen hair 2 9.9 SOS1 SHOC2 PTPN11 MAP2K1
28 noonan syndrome-like disorder with loose anagen hair 9.9 SOS1 SHOC2 PTPN11 MAP2K1
29 pigmented villonodular synovitis 9.9 PTPN11 CD68
30 epididymal neoplasm 9.9 NF1 CD68
31 specific learning disability 9.9 PTPN11 NF1
32 legius syndrome 9.9 SPRED1 PTPN11 NF1
33 gastric adenocarcinoma 9.8 PTPN11 MAP2K2 MAP2K1
34 corpus callosum lipoma 9.8 NF1 MAP2K1
35 cerebral hemisphere lipoma 9.8 NF1 MAP2K1
36 optic nerve astrocytoma 9.8 NF1 ENO2
37 pacinian tumor 9.8 NF1 ENO2
38 cerebral falx meningioma 9.8 NF1 ENO2
39 plexiform schwannoma 9.8 NF1 ENO2
40 malignant spindle cell melanoma 9.8 NF1 CD68
41 spinal cord oligodendroglioma 9.8 NF1 ENO2
42 giant cell reparative granuloma 9.8 NF1 CD68
43 adult xanthogranuloma 9.8 NF1 CD68
44 orbital cancer 9.8 NF1 ENO2
45 horner's syndrome 9.8 NF1 ENO2
46 cerebellum cancer 9.8 NF1 ENO2
47 cranial nerve neoplasm 9.8 NF1 ENO2
48 optic nerve glioma 9.8 NF1 ENO2
49 bone benign neoplasm 9.7 ENO2 CD68
50 spinal cancer 9.7 NF1 ENO2

Graphical network of the top 20 diseases related to Skin Granular Cell Tumor:



Diseases related to Skin Granular Cell Tumor

Symptoms & Phenotypes for Skin Granular Cell Tumor

GenomeRNAi Phenotypes related to Skin Granular Cell Tumor according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased cell migration GR00055-A-1 8.96 MAP2K2 SOS1
2 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 ENO2 GRB2 MAP2K2 PTPN11

MGI Mouse Phenotypes related to Skin Granular Cell Tumor:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.92 ENO2 GRB2 MAP2K1 MAP2K2 NF1 PTPN11
2 digestive/alimentary MP:0005381 9.73 GRB2 MAP2K1 MAP2K2 NF1 PTPN11 SOS1
3 embryo MP:0005380 9.7 ENO1 GRB2 MAP2K1 NF1 PTPN11 SHOC2
4 growth/size/body region MP:0005378 9.65 ENO1 ENO2 GRB2 MAP2K1 MAP2K2 NF1
5 hearing/vestibular/ear MP:0005377 9.02 GRB2 MAP2K1 MAP2K2 NF1 PTPN11

Drugs & Therapeutics for Skin Granular Cell Tumor

Search Clinical Trials , NIH Clinical Center for Skin Granular Cell Tumor

Genetic Tests for Skin Granular Cell Tumor

Anatomical Context for Skin Granular Cell Tumor

MalaCards organs/tissues related to Skin Granular Cell Tumor:

40
Skin

Publications for Skin Granular Cell Tumor

Articles related to Skin Granular Cell Tumor:

# Title Authors PMID Year
1
Granular cell tumor of skin diagnosed on fine needle aspiration cytology. 61
22837582 2012
2
[Primitive nonneural granular cell tumor of skin (case report)]. 61
17171975 2006

Variations for Skin Granular Cell Tumor

Expression for Skin Granular Cell Tumor

Search GEO for disease gene expression data for Skin Granular Cell Tumor.

Pathways for Skin Granular Cell Tumor

Pathways related to Skin Granular Cell Tumor according to GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 SPRED1 SOS1 PTPN11 NF1 MAP2K2 MAP2K1
2
Show member pathways
13.36 SPRED1 SOS1 PTPN11 NF1 MAP2K2 MAP2K1
3
Show member pathways
12.93 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
4
Show member pathways
12.89 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
5
Show member pathways
12.83 SOS1 MAP2K2 MAP2K1 GRB2
6
Show member pathways
12.81 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
7 12.8 SOS1 NF1 MAP2K2 MAP2K1 GRB2
8
Show member pathways
12.79 SOS1 MAP2K2 MAP2K1 GRB2
9
Show member pathways
12.75 SOS1 MAP2K2 MAP2K1 GRB2
10
Show member pathways
12.75 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
11
Show member pathways
12.72 SOS1 MAP2K2 MAP2K1 GRB2
12
Show member pathways
12.71 SOS1 NF1 MAP2K2 MAP2K1 GRB2
13
Show member pathways
12.67 SOS1 MAP2K2 MAP2K1 GRB2
14
Show member pathways
12.67 SOS1 MAP2K2 MAP2K1 GRB2
15
Show member pathways
12.67 SOS1 SHOC2 PTPN11 NF1 MAP2K2 MAP2K1
16
Show member pathways
12.65 SOS1 MAP2K2 MAP2K1 GRB2
17
Show member pathways
12.63 SOS1 MAP2K2 MAP2K1 GRB2
18
Show member pathways
12.63 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
19
Show member pathways
12.62 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
20
Show member pathways
12.62 SOS1 PTPN11 NF1 MAP2K2 MAP2K1 GRB2
21
Show member pathways
12.61 SOS1 MAP2K2 MAP2K1 GRB2
22
Show member pathways
12.6 SOS1 MAP2K2 MAP2K1 GRB2
23
Show member pathways
12.6 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
24
Show member pathways
12.58 SPRED1 SOS1 PTPN11 GRB2
25 12.55 SOS1 MAP2K2 MAP2K1 GRB2
26
Show member pathways
12.55 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
27
Show member pathways
12.54 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
28
Show member pathways
12.53 SOS1 MAP2K2 MAP2K1 GRB2
29
Show member pathways
12.52 SOS1 MAP2K2 MAP2K1 GRB2
30
Show member pathways
12.51 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
31
Show member pathways
12.48 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
32
Show member pathways
12.44 SOS1 MAP2K2 MAP2K1 GRB2
33
Show member pathways
12.43 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
34
Show member pathways
12.42 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
35
Show member pathways
12.42 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
36
Show member pathways
12.41 SOS1 MAP2K2 MAP2K1 GRB2
37
Show member pathways
12.41 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
38
Show member pathways
12.38 SOS1 MAP2K2 MAP2K1 GRB2
39
Show member pathways
12.38 SOS1 MAP2K2 MAP2K1 GRB2
40
Show member pathways
12.38 SOS1 MAP2K2 MAP2K1 GRB2
41
Show member pathways
12.37 SOS1 MAP2K2 MAP2K1 GRB2
42
Show member pathways
12.37 SOS1 MAP2K2 MAP2K1 GRB2
43
Show member pathways
12.37 SOS1 PTPN11 NF1 MAP2K2 MAP2K1 GRB2
44
Show member pathways
12.34 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
45 12.33 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
46
Show member pathways
12.32 SPRED1 SOS1 PTPN11 GRB2
47
Show member pathways
12.32 SOS1 PTPN11 MAP2K2 MAP2K1 GRB2
48
Show member pathways
12.25 SOS1 MAP2K2 MAP2K1 GRB2
49 12.23 SOS1 MAP2K2 MAP2K1 GRB2
50 12.22 MAP2K2 MAP2K1 GRB2

GO Terms for Skin Granular Cell Tumor

Cellular components related to Skin Granular Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 SPRED1 SOS1 SHOC2 PTPN11 PLEK NF1
2 cytosol GO:0005829 9.4 SPRED1 SOS1 SHOC2 PTPN11 PLEK NF1
3 phosphopyruvate hydratase complex GO:0000015 9.16 ENO2 ENO1

Biological processes related to Skin Granular Cell Tumor according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 activation of MAPK activity GO:0000187 9.7 PTPN11 MAP2K2 MAP2K1
2 epidermal growth factor receptor signaling pathway GO:0007173 9.58 SOS1 PTPN11 GRB2
3 canonical glycolysis GO:0061621 9.55 ENO2 ENO1
4 regulation of MAPK cascade GO:0043408 9.54 SPRED1 GRB2
5 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.51 MAP2K2 MAP2K1
6 regulation of stress-activated MAPK cascade GO:0032872 9.49 MAP2K2 MAP2K1
7 Bergmann glial cell differentiation GO:0060020 9.48 PTPN11 MAP2K1
8 regulation of early endosome to late endosome transport GO:2000641 9.46 MAP2K2 MAP2K1
9 fibroblast growth factor receptor signaling pathway GO:0008543 9.46 SPRED1 SHOC2 PTPN11 GRB2
10 regulation of vacuole fusion, non-autophagic GO:0032889 9.43 ENO2 ENO1
11 neurotrophin TRK receptor signaling pathway GO:0048011 9.43 SOS1 PTPN11 GRB2
12 regulation of Golgi inheritance GO:0090170 9.37 MAP2K2 MAP2K1
13 cerebellar cortex formation GO:0021697 9.32 PTPN11 MAP2K1
14 Ras protein signal transduction GO:0007265 9.26 SOS1 SHOC2 NF1 GRB2
15 MAPK cascade GO:0000165 9.1 SPRED1 SOS1 NF1 MAP2K2 MAP2K1 GRB2

Molecular functions related to Skin Granular Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine/tyrosine kinase activity GO:0004712 9.32 MAP2K2 MAP2K1
2 MAP kinase kinase activity GO:0004708 9.26 MAP2K2 MAP2K1
3 insulin receptor substrate binding GO:0043560 9.16 PTPN11 GRB2
4 MAP-kinase scaffold activity GO:0005078 8.96 MAP2K2 MAP2K1
5 phosphopyruvate hydratase activity GO:0004634 8.62 ENO2 ENO1

Sources for Skin Granular Cell Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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