MCID: ATY004
MIFTS: 28

Atypical Neurofibroma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Atypical Neurofibroma

MalaCards integrated aliases for Atypical Neurofibroma:

Name: Atypical Neurofibroma 12 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:5153
NCIt 50 C41426
UMLS 73 C1510961

Summaries for Atypical Neurofibroma

MalaCards based summary : Atypical Neurofibroma is related to neurofibroma and hobnail hemangioma. An important gene associated with Atypical Neurofibroma is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Cell cycle Role of SCF complex in cell cycle regulation and Neuroscience. Affiliated tissues include skin, and related phenotypes are behavior/neurological and homeostasis/metabolism

Related Diseases for Atypical Neurofibroma

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

(show top 50) (show all 87)
# Related Disease Score Top Affiliating Genes
1 neurofibroma 28.6 CDKN2A NF1 NF2 SOX10
2 hobnail hemangioma 10.8 CD34 PDPN
3 chromosome 17q11.2 deletion syndrome, 1.4-mb 10.6 NF1 SUZ12
4 lymphangiosarcoma 10.6 CD34 PDPN
5 breast angiosarcoma 10.6 CD34 SOX10
6 malignant spindle cell melanoma 10.6 NF1 SOX10
7 pleomorphic lipoma 10.5 CD34 NF1
8 cardiovascular organ benign neoplasm 10.5 CD34 PDPN
9 deep leiomyoma 10.5 CD34 GFAP
10 vulvar dystrophy 10.5 CD34 CDKN2A
11 benign perivascular tumor 10.5 CD34 PDPN
12 gliofibroma 10.5 GFAP NF1
13 exophthalmos 10.5 CD34 NF1
14 ischemic fasciitis 10.4 CD34 CDKN2A
15 conventional leiomyosarcoma 10.4 CDKN2A NF1
16 nephrogenic adenofibroma 10.4 CD34 NF1
17 obstructive hydrocephalus 10.4 GFAP NF1
18 skin sarcoma 10.4 CD34 CDKN2B
19 glomangioma 10.4 CD34 PDPN
20 liver inflammatory pseudotumor 10.4 CD34 UCHL1
21 malignant glandular tumor of peripheral nerve sheath 10.4 NF1 UCHL1
22 tenosynovial giant cell tumor 10.3 CDKN2A CDKN2B
23 intraneural perineurioma 10.3 CD34 NF1 SOX10
24 thyroid lymphoma 10.3 CDKN2A CDKN2B
25 scrotal carcinoma 10.3 CDKN2A CDKN2B
26 ewing's family of tumors 10.2 CDKN2A CDKN2B
27 anaplastic oligodendroglioma 10.2 CDKN2A GFAP
28 reticulohistiocytic granuloma 10.2 CD34 UCHL1
29 congenital epulis 10.2 CD34 UCHL1
30 pre-malignant neoplasm 10.2 CDKN2A PDPN
31 cell type cancer 10.2 CD34 CDKN2A PDPN
32 lung meningioma 10.1 CD34 NF2
33 melanotic neurilemmoma 10.1 CD34 NF2
34 psammomatous meningioma 10.1 CD34 NF2
35 necrotizing sialometaplasia 10.1 CDKN2A GFAP
36 neurofibromatosis, familial spinal 10.1 NF1 NF2
37 neurofibrosarcoma 10.1 NF1 NF2
38 immature cataract 10.1 NF1 NF2
39 plexiform neurofibroma 10.0 NF1 NF2
40 optic nerve glioma 10.0 GFAP NF1
41 granular cell tumor 10.0 GFAP UCHL1
42 amyloid tumor 10.0 NF1 NF2
43 spinal meningioma 10.0 NF1 NF2
44 spinal canal and spinal cord meningioma 10.0 NF1 NF2
45 small cell sarcoma 10.0 NF2 SOX10
46 colonic disease 10.0 SOX10 UCHL1
47 precursor t-cell acute lymphoblastic leukemia 10.0 CD34 CDKN2A CDKN2B
48 traumatic brain injury 10.0 GFAP UCHL1
49 neurilemmomatosis 9.9 NF1 NF2
50 cerebral convexity meningioma 9.9 GFAP NF2

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



Diseases related to Atypical Neurofibroma

Symptoms & Phenotypes for Atypical Neurofibroma

MGI Mouse Phenotypes related to Atypical Neurofibroma:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 CDKN2A NF1 NF2 GFAP SUZ12 PDPN
2 homeostasis/metabolism MP:0005376 10.11 CDKN2A NF1 CDKN2B NF2 GFAP CD34
3 growth/size/body region MP:0005378 10.1 CDKN2A NF1 GFAP SUZ12 NF2 PDPN
4 cellular MP:0005384 10.07 CDKN2A NF1 CDKN2B CD34 GFAP SOX10
5 immune system MP:0005387 10.03 CDKN2A NF1 CDKN2B NF2 GFAP CD34
6 hematopoietic system MP:0005397 10.02 CDKN2A NF1 CDKN2B CD34 SUZ12 PDPN
7 mortality/aging MP:0010768 10.02 CDKN2A NF1 CDKN2B NF2 GFAP SUZ12
8 integument MP:0010771 10.01 CDKN2B NF2 CD34 CDKN2A NF1 PDPN
9 digestive/alimentary MP:0005381 9.99 CDKN2A NF1 GFAP PDPN UCHL1 SOX10
10 neoplasm MP:0002006 9.87 CDKN2B NF2 CD34 CDKN2A NF1 SUZ12
11 nervous system MP:0003631 9.8 CDKN2A NF1 GFAP SOX10 NF2 SUZ12
12 pigmentation MP:0001186 9.46 CDKN2A NF1 SOX10 SUZ12
13 respiratory system MP:0005388 9.43 CDKN2A NF1 NF2 PDPN UCHL1 SOX10
14 skeleton MP:0005390 9.1 CDKN2A NF1 NF2 SUZ12 PDPN UCHL1

Drugs & Therapeutics for Atypical Neurofibroma

Search Clinical Trials , NIH Clinical Center for Atypical Neurofibroma

Genetic Tests for Atypical Neurofibroma

Anatomical Context for Atypical Neurofibroma

MalaCards organs/tissues related to Atypical Neurofibroma:

41
Skin

Publications for Atypical Neurofibroma

Articles related to Atypical Neurofibroma:

# Title Authors Year
1
Cutaneous Atypical Neurofibroma: A Case Report and Review of Literature. ( 28719433 )
2017
2
The effect of surgical margins on outcomes for low grade MPNSTs and atypical neurofibroma. ( 25111615 )
2014
3
Atypical neurofibroma and osteosclerotic metastasis. ( 22606453 )
2012
4
Podoplanin and CD34 in peripheral nerve sheath tumours: focus on neurofibromatosis 1-associated atypical neurofibroma. ( 20821344 )
2011
5
Atypical neurofibroma of the skin and subcutaneous tissue: clinicopathologic analysis of 11 cases. ( 19469864 )
2010

Variations for Atypical Neurofibroma

Expression for Atypical Neurofibroma

Search GEO for disease gene expression data for Atypical Neurofibroma.

Pathways for Atypical Neurofibroma

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 CDKN2A CDKN2B UCHL1
2 11.46 GFAP NF1 NF2 UCHL1
3 11.18 CDKN2A NF1 NF2
4 10.76 CDKN2A CDKN2B

GO Terms for Atypical Neurofibroma

Cellular components related to Atypical Neurofibroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.61 CD34 CDKN2A CDKN2B GFAP NF1 NF2
2 filopodium membrane GO:0031527 8.62 NF2 PDPN

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein kinase activity GO:0006469 9.43 CDKN2A NF1 NF2
2 negative regulation of MAP kinase activity GO:0043407 9.4 NF1 UCHL1
3 negative regulation of MAPK cascade GO:0043409 9.37 NF1 NF2
4 negative regulation of cell proliferation GO:0008285 9.35 CDKN2A CDKN2B NF1 NF2 PDPN
5 negative regulation of phosphorylation GO:0042326 9.32 CDKN2A CDKN2B
6 negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031658 9.16 CDKN2A CDKN2B
7 negative regulation of cell-matrix adhesion GO:0001953 8.8 CDKN2A NF1 NF2

Molecular functions related to Atypical Neurofibroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 promoter-specific chromatin binding GO:1990841 8.96 SOX10 SUZ12
2 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 8.62 CDKN2A CDKN2B

Sources for Atypical Neurofibroma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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