MCID: EPT006
MIFTS: 21

Epithelioid Neurofibroma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Epithelioid Neurofibroma

MalaCards integrated aliases for Epithelioid Neurofibroma:

Name: Epithelioid Neurofibroma 12 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:5149
NCIt 49 C6558
UMLS 71 C1275264

Summaries for Epithelioid Neurofibroma

MalaCards based summary : Epithelioid Neurofibroma is related to central nervous system hemangioma and mechanical ectropion. An important gene associated with Epithelioid Neurofibroma is DSP (Desmoplakin), and among its related pathways/superpathways is Neuroscience. Affiliated tissues include spinal cord, skeletal muscle and small intestine, and related phenotypes are craniofacial and integument

Related Diseases for Epithelioid Neurofibroma

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 central nervous system hemangioma 10.1 NF1 CD34
2 mechanical ectropion 10.1 NF1 CD34
3 malignant glandular tumor of peripheral nerve sheath 10.1 NF1 B3GAT1
4 cellular neurofibroma 10.1 NF1 B3GAT1
5 pacinian tumor 10.1 NF1 CD34
6 malignant triton tumor 10.1 NF1 B3GAT1
7 atypical neurofibroma 10.1 NF1 CD34
8 epithelioid malignant peripheral nerve sheath tumor 10.1 NF1 CD34
9 bladder leiomyoma 10.1 NF1 CD34
10 subungual glomus tumor 10.1 NF1 CD34
11 nephrogenic adenofibroma 10.1 CD34 B3GAT1
12 benign mesenchymoma 10.0 CD34 B3GAT1
13 autonomic nervous system benign neoplasm 10.0 NF1 CD34
14 peripheral nervous system benign neoplasm 10.0 NF1 CD34
15 pulmonary artery leiomyosarcoma 10.0 CD34 B3GAT1
16 connective tissue benign neoplasm 10.0 NF1 CD34
17 glomangiomatosis 10.0 CD34 B3GAT1
18 exophthalmos 10.0 NF1 CD34
19 mesenchymal cell neoplasm 10.0 NF1 CD34
20 follicular dendritic cell sarcoma 10.0 DSP CD34
21 cardiovascular cancer 10.0 NF1 CD34
22 lipomatosis, multiple 9.9 NF1 CD34
23 cardiovascular organ benign neoplasm 9.9 NF1 CD34
24 microcystic meningioma 9.9 NF2 DSP
25 skin benign neoplasm 9.9 NF1 CD34
26 mucosal melanoma 9.9 NGFR NF1
27 meningothelial meningioma 9.9 NF2 DSP
28 hemangiopericytoma, malignant 9.9 NGFR CD34
29 amyloid tumor 9.9 NF2 NF1
30 neurilemmoma of the fifth cranial nerve 9.9 NF2 NF1
31 trigeminal nerve neoplasm 9.9 NF2 NF1
32 peripheral nerve schwannoma 9.9 NF2 NF1
33 polyp of corpus uteri 9.9 NF2 NF1
34 rete ovarii adenoma 9.9 NF2 NF1
35 rete ovarii neoplasm 9.9 NF2 NF1
36 optic nerve neoplasm 9.9 NF2 NF1
37 spinal canal and spinal cord meningioma 9.8 NF2 NF1
38 spinal meningioma 9.8 NF2 NF1
39 schwannoma of twelfth cranial nerve 9.8 NF2 NF1
40 skeletal muscle cancer 9.8 NF1 CD34
41 lung meningioma 9.8 NF2 CD34
42 hypoglossal nerve disease 9.8 NF2 NF1
43 parasagittal meningioma 9.8 NF2 CD34
44 corpus callosum lipoma 9.8 NF2 NF1
45 cerebral convexity meningioma 9.8 NF2 CD34
46 cerebral hemisphere lipoma 9.8 NF2 NF1
47 optic nerve glioma 9.8 NF2 NF1
48 melanotic neurilemmoma 9.8 NF2 CD34
49 cranial nerve neoplasm 9.8 NF2 NF1
50 spinal cancer 9.8 NF2 NF1

Graphical network of the top 20 diseases related to Epithelioid Neurofibroma:



Diseases related to Epithelioid Neurofibroma

Symptoms & Phenotypes for Epithelioid Neurofibroma

MGI Mouse Phenotypes related to Epithelioid Neurofibroma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 DSP NF1 NF2 NGFR
2 integument MP:0010771 9.02 CD34 DSP NF1 NF2 NGFR

Drugs & Therapeutics for Epithelioid Neurofibroma

Search Clinical Trials , NIH Clinical Center for Epithelioid Neurofibroma

Genetic Tests for Epithelioid Neurofibroma

Anatomical Context for Epithelioid Neurofibroma

MalaCards organs/tissues related to Epithelioid Neurofibroma:

40
Spinal Cord, Skeletal Muscle, Small Intestine, Lung, Breast, Skin

Publications for Epithelioid Neurofibroma

Articles related to Epithelioid Neurofibroma:

# Title Authors PMID Year
1
[Cutaneous neural neoplasms--an update]. 61
10320997 1999
2
Sclerosing perineurioma: a clinicopathologic study of 19 cases of a distinctive soft tissue lesion with a predilection for the fingers and palms of young adults. 61
9414186 1997

Variations for Epithelioid Neurofibroma

Expression for Epithelioid Neurofibroma

Search GEO for disease gene expression data for Epithelioid Neurofibroma.

Pathways for Epithelioid Neurofibroma

Pathways related to Epithelioid Neurofibroma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.33 NGFR NF2 NF1

GO Terms for Epithelioid Neurofibroma

Biological processes related to Epithelioid Neurofibroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 wound healing GO:0042060 9.26 NF1 DSP
2 negative regulation of protein kinase activity GO:0006469 9.16 NF2 NF1
3 negative regulation of MAPK cascade GO:0043409 8.96 NF2 NF1
4 negative regulation of cell-matrix adhesion GO:0001953 8.62 NF2 NF1

Sources for Epithelioid Neurofibroma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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