MCID: ATY004
MIFTS: 29

Atypical Neurofibroma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Atypical Neurofibroma

MalaCards integrated aliases for Atypical Neurofibroma:

Name: Atypical Neurofibroma 12 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:5153
NCIt 51 C41426
UMLS 74 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 growth/size/body region

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 90)
# Related Disease Score Top Affiliating Genes
1 neurofibroma 29.3 CD34 CDKN2A NF1 NF2 SOX10
2 hobnail hemangioma 10.4 CD34 PDPN
3 chromosome 17q11.2 deletion syndrome, 1.4-mb 10.3 NF1 SUZ12
4 cardiovascular organ benign neoplasm 10.3 CD34 PDPN
5 breast angiosarcoma 10.3 CD34 SOX10
6 benign perivascular tumor 10.3 CD34 PDPN
7 malignant spindle cell melanoma 10.3 NF1 SOX10
8 deep leiomyoma 10.2 CD34 GFAP
9 exophthalmos 10.2 CD34 NF1
10 gliofibroma 10.2 GFAP NF1
11 liver inflammatory pseudotumor 10.2 CD34 UCHL1
12 meninges sarcoma 10.2 CD34 GFAP
13 malignant glandular tumor of peripheral nerve sheath 10.2 NF1 UCHL1
14 lymphangiosarcoma 10.2 CD34 PDPN
15 nephrogenic adenofibroma 10.2 CD34 NF1
16 skin sarcoma 10.2 CD34 CDKN2B
17 obstructive hydrocephalus 10.2 GFAP NF1
18 vulvar dystrophy 10.2 CD34 CDKN2A
19 reticulohistiocytic granuloma 10.2 CD34 UCHL1
20 congenital epulis 10.1 CD34 UCHL1
21 conventional leiomyosarcoma 10.1 CDKN2A NF1
22 ischemic fasciitis 10.1 CD34 CDKN2A
23 pilomyxoid astrocytoma 10.1 GFAP NF1
24 intraneural perineurioma 10.1 CD34 NF1 SOX10
25 tenosynovial giant cell tumor 10.1 CDKN2A CDKN2B
26 scrotal carcinoma 10.1 CDKN2A CDKN2B
27 pre-malignant neoplasm 10.1 CDKN2A PDPN
28 pineal parenchymal tumor of intermediate differentiation 10.1 NF1 UCHL1
29 granular cell tumor 10.1 GFAP UCHL1
30 psammomatous meningioma 10.1 CD34 NF2
31 ewing's family of tumors 10.0 CDKN2A CDKN2B
32 neurofibromatosis, familial spinal 10.0 NF1 NF2
33 anaplastic oligodendroglioma 10.0 CDKN2A GFAP
34 traumatic brain injury 10.0 GFAP UCHL1
35 brain injury 10.0 GFAP UCHL1
36 optic nerve glioma 10.0 GFAP NF1
37 immature cataract 10.0 NF1 NF2
38 neurofibromatosis, type iv, of riccardi 10.0
39 neurofibrosarcoma 10.0 NF1 NF2
40 laryngeal disease 10.0 CDKN2A PDPN
41 pilocytic astrocytoma 10.0 GFAP NF1 SOX10
42 plexiform neurofibroma 10.0 NF1 NF2
43 amyloid tumor 10.0 NF1 NF2
44 necrotizing sialometaplasia 10.0 CDKN2A GFAP
45 neurilemmomatosis 10.0 NF1 NF2
46 small cell sarcoma 10.0 NF2 SOX10
47 cerebral convexity meningioma 9.9 GFAP NF2
48 intraventricular meningioma 9.9 GFAP NF2
49 neurofibromatosis, type i 9.9
50 rhabdoid 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:

47 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 CDKN2A GFAP NF1 NF2 PDPN SOX10
2 growth/size/body region MP:0005378 10.1 CDKN2A GFAP NF1 NF2 PDPN SOX10
3 cellular MP:0005384 10.07 CD34 CDKN2A CDKN2B GFAP NF1 SOX10
4 homeostasis/metabolism MP:0005376 10.06 CD34 CDKN2A CDKN2B GFAP NF1 NF2
5 immune system MP:0005387 10.03 CD34 CDKN2A CDKN2B GFAP NF1 NF2
6 hematopoietic system MP:0005397 10.02 CD34 CDKN2A CDKN2B NF1 PDPN SUZ12
7 mortality/aging MP:0010768 10.02 CDKN2A CDKN2B GFAP NF1 NF2 PDPN
8 integument MP:0010771 10.01 CD34 CDKN2A CDKN2B NF1 NF2 PDPN
9 digestive/alimentary MP:0005381 9.99 CDKN2A GFAP NF1 PDPN SOX10 UCHL1
10 neoplasm MP:0002006 9.87 CD34 CDKN2A CDKN2B NF1 NF2 SOX10
11 nervous system MP:0003631 9.8 CDKN2A GFAP NF1 NF2 SOX10 SUZ12
12 pigmentation MP:0001186 9.46 CDKN2A NF1 SOX10 SUZ12
13 respiratory system MP:0005388 9.43 CDKN2A NF1 NF2 PDPN SOX10 UCHL1
14 skeleton MP:0005390 9.1 CDKN2A NF1 NF2 PDPN SUZ12 UCHL1

Drugs & Therapeutics for Atypical Neurofibroma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 Enrolling by invitation NCT03820778 Not Applicable

Search NIH Clinical Center for Atypical Neurofibroma

Genetic Tests for Atypical Neurofibroma

Anatomical Context for Atypical Neurofibroma

MalaCards organs/tissues related to Atypical Neurofibroma:

42
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 MAP kinase activity GO:0043407 9.4 NF1 UCHL1
2 peripheral nervous system development GO:0007422 9.37 NF1 SOX10
3 negative regulation of cell proliferation GO:0008285 9.35 CDKN2A CDKN2B NF1 NF2 PDPN
4 negative regulation of protein kinase activity GO:0006469 9.33 CDKN2A NF1 NF2
5 negative regulation of MAPK cascade GO:0043409 9.32 NF1 NF2
6 negative regulation of phosphorylation GO:0042326 9.26 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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