MCID: EPT006
MIFTS: 20

Epithelioid Neurofibroma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Epithelioid Neurofibroma

MalaCards integrated aliases for Epithelioid Neurofibroma:

Name: Epithelioid Neurofibroma 12 15 72

Classifications:



External Ids:

Disease Ontology 12 DOID:5149
NCIt 50 C6558
UMLS 72 C1275264

Summaries for Epithelioid Neurofibroma

MalaCards based summary : Epithelioid Neurofibroma is related to sarcomatoid squamous cell skin carcinoma and congenital epulis. An important gene associated with Epithelioid Neurofibroma is DSP (Desmoplakin), and among its related pathways/superpathways are Neuroscience and Glioblastoma Multiforme. 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 all 38)
# Related Disease Score Top Affiliating Genes
1 sarcomatoid squamous cell skin carcinoma 10.1 NGFR CD34
2 congenital epulis 10.1 NGFR CD34
3 skin sarcoma 10.1 NGFR CD34
4 lymphangiosarcoma 10.0 DSP CD34
5 psammomatous meningioma 10.0 NF2 CD34
6 pediatric lymphoma 10.0 CD34 B3GAT1
7 malignant spindle cell melanoma 9.9 NGFR NF1
8 malignant glandular tumor of peripheral nerve sheath 9.8 NF1 B3GAT1
9 neurofibromatosis, familial spinal 9.7 NF2 NF1
10 plexiform neurofibroma 9.7 NF2 NF1
11 exophthalmos 9.7 NF1 CD34
12 neurofibrosarcoma 9.7 NF2 NF1
13 immature cataract 9.7 NF2 NF1
14 amyloid tumor 9.7 NF2 NF1
15 neurilemmoma of the fifth cranial nerve 9.7 NF2 NF1
16 trigeminal nerve neoplasm 9.7 NF2 NF1
17 intraneural perineurioma 9.7 NF1 CD34
18 spinal canal and spinal cord meningioma 9.7 NF2 NF1
19 spinal meningioma 9.7 NF2 NF1
20 neurilemmomatosis 9.7 NF2 NF1
21 optic nerve neoplasm 9.7 NF2 NF1
22 acoustic neuroma 9.6 NF2 NF1
23 neurofibromatosis, type ii 9.5 NF2 NF1
24 central nervous system cancer 9.5 NF2 NF1
25 neurofibromatosis, type iv, of riccardi 9.5 NF2 NF1
26 malignant peripheral nerve sheath tumor 9.4 NF2 NF1
27 autosomal genetic disease 9.4 NF2 NF1
28 bone marrow cancer 9.4 NF1 CD34
29 nephrogenic adenofibroma 9.4 NF1 CD34 B3GAT1
30 neurilemmoma 9.3 NGFR NF2 NF1
31 atypical neurofibroma 9.3 NF2 NF1 CD34
32 neurofibroma 9.3 NF2 NF1 CD34
33 peripheral nervous system neoplasm 9.3 NF2 NF1 CD34
34 nervous system cancer 9.3 NF2 NF1 CD34
35 meningioma, familial 9.3 NF2 NF1 CD34
36 gastrointestinal stromal tumor 9.2 NF1 CD34
37 cellular schwannoma 8.5 NGFR NF2 NF1 DSP CD34
38 plexiform schwannoma 8.0 NGFR NF2 NF1 DSP CD34 B3GAT1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.46 DSP NF1 NF2 NGFR
2 integument MP:0010771 9.35 CD34 DSP NF1 NF2 NGFR
3 nervous system MP:0003631 9.02 B3GAT1 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

Publications for Epithelioid Neurofibroma

Articles related to Epithelioid Neurofibroma:

# Title Authors PMID Year
1
[Cutaneous neural neoplasms--an update]. 38
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. 38
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
2 11 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 negative regulation of cell migration GO:0030336 9.32 NF2 NF1
2 wound healing GO:0042060 9.26 NF1 DSP
3 negative regulation of protein kinase activity GO:0006469 9.16 NF2 NF1
4 negative regulation of MAPK cascade GO:0043409 8.96 NF2 NF1
5 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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