Atypical Neurofibroma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Atypical Neurofibroma

MalaCards integrated aliases for Atypical Neurofibroma:

Name: Atypical Neurofibroma ¹² ¹⁵ ⁷³

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:5153

NCIt ⁵⁰ C41426

UMLS ⁷³ C1510961

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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

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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:

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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

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Drugs & Therapeutics for Atypical Neurofibroma

Search Clinical Trials , NIH Clinical Center for Atypical Neurofibroma

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Genetic Tests for Atypical Neurofibroma

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Anatomical Context for Atypical Neurofibroma

MalaCards organs/tissues related to Atypical Neurofibroma:

⁴¹

Skin

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Publications for Atypical Neurofibroma

Articles related to Atypical Neurofibroma:

#	Title	Authors	Year
1	Cutaneous Atypical Neurofibroma: A Case Report and Review of Literature. ( 28719433 )	Mesbah Ardakani N....Wood B.A.	2017
2	The effect of surgical margins on outcomes for low grade MPNSTs and atypical neurofibroma. ( 25111615 )	Bernthal N.M....Randall R.L.	2014
3	Atypical neurofibroma and osteosclerotic metastasis. ( 22606453 )	Varyani N....Tripathi K.	2012
4	Podoplanin and CD34 in peripheral nerve sheath tumours: focus on neurofibromatosis 1-associated atypical neurofibroma. ( 20821344 )	Naber U....Hagel C.	2011
5	Atypical neurofibroma of the skin and subcutaneous tissue: clinicopathologic analysis of 11 cases. ( 19469864 )	Jokinen C.H....Argenyi Z.B.	2010

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Genes for Atypical Neurofibroma

Genes related to Atypical Neurofibroma (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NF1	Neurofibromin 1	Protein Coding	16.04	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
2	SOX10	SRY-Box 10	Protein Coding	15.47	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	SUZ12	SUZ12, Polycomb Repressive Complex 2 Subunit	Protein Coding	14.97	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	CDKN2B	Cyclin Dependent Kinase Inhibitor 2B	Protein Coding	14.23	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	14.03	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	UCHL1	Ubiquitin C-Terminal Hydrolase L1	Protein Coding	14	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	NF2	Neurofibromin 2	Protein Coding	13.86	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	13.68	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	PDPN	Podoplanin	Protein Coding	12.19	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	CD34	CD34 Molecule	Protein Coding	11.06	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

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Variations for Atypical Neurofibroma

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Expression for Atypical Neurofibroma

Search GEO for disease gene expression data for Atypical Neurofibroma.

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Pathways for Atypical Neurofibroma

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

#	Super pathways	Score	Top Affiliating Genes
1	Cell cycle Role of SCF complex in cell cycle regulation ²² Show member pathways Cell cycle ESR1 regulation of G1/S transition ²² Cell cycle Regulation of G1/S transition (part 1) ²² Immune response MIF-JAB1 signaling ²²	11.58	CDKN2A CDKN2B UCHL1
2	Neuroscience ⁴	11.46	GFAP NF1 NF2 UCHL1
3	Glioblastoma Multiforme ⁶⁴	11.18	CDKN2A NF1 NF2
4	Oncogene Induced Senescence ⁶⁶	10.76	CDKN2A CDKN2B

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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

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Sources for Atypical Neurofibroma

¹ BioSystems

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