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 ⁷⁴

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:5153

NCIt ⁵¹ C41426

UMLS ⁷⁴ 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 brain, skin and liver, 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 90)

#	Related Disease	Score	Top Affiliating Genes
1	neurofibroma	29.4	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	neurofibromatosis, type iv, of riccardi	10.1
26	tenosynovial giant cell tumor	10.1	CDKN2A CDKN2B
27	scrotal carcinoma	10.1	CDKN2A CDKN2B
28	pre-malignant neoplasm	10.1	CDKN2A PDPN
29	pineal parenchymal tumor of intermediate differentiation	10.1	NF1 UCHL1
30	granular cell tumor	10.1	GFAP UCHL1
31	psammomatous meningioma	10.1	CD34 NF2
32	ewing's family of tumors	10.1	CDKN2A CDKN2B
33	neurofibromatosis, familial spinal	10.0	NF1 NF2
34	anaplastic oligodendroglioma	10.0	CDKN2A GFAP
35	traumatic brain injury	10.0	GFAP UCHL1
36	brain injury	10.0	GFAP UCHL1
37	optic nerve glioma	10.0	GFAP NF1
38	immature cataract	10.0	NF1 NF2
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:

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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	homeostasis/metabolism	MP:0005376	10.11	CD34 CDKN2A CDKN2B GFAP NF1 NF2
3	growth/size/body region	MP:0005378	10.1	CDKN2A GFAP NF1 NF2 PDPN SOX10
4	cellular	MP:0005384	10.07	CD34 CDKN2A CDKN2B GFAP NF1 SOX10
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

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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

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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:

⁴²

Brain, Skin, Liver, Breast, Spinal Cord, T Cells, Pineal

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Publications for Atypical Neurofibroma

Articles related to Atypical Neurofibroma:

#	Title	Authors	Year
1	Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation. ( 31091306 )	Rhodes SD...Clapp DW	2019
2	Cutaneous Atypical Neurofibroma: A Case Report and Review of Literature. ( 28719433 )	Mesbah Ardakani N...Wood BA	2018
3	The effect of surgical margins on outcomes for low grade MPNSTs and atypical neurofibroma. ( 25111615 )	Bernthal NM...Randall RL	2014
4	Atypical neurofibroma and osteosclerotic metastasis. ( 22606453 )	Varyani N...Tripathi K	2012
5	Podoplanin and CD34 in peripheral nerve sheath tumours: focus on neurofibromatosis 1-associated atypical neurofibroma. ( 20821344 )	Naber U...Hagel C	2011
6	Atypical neurofibroma of the skin and subcutaneous tissue: clinicopathologic analysis of 11 cases. ( 19469864 )	Jokinen CH...Argenyi ZB	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	16.16	DISEASES inferred ¹⁵
2	SOX10	SRY-Box 10	Protein Coding	15.36	DISEASES inferred ¹⁵
3	SUZ12	SUZ12 Polycomb Repressive Complex 2 Subunit	Protein Coding	14.82	DISEASES inferred ¹⁵
4	CDKN2B	Cyclin Dependent Kinase Inhibitor 2B	Protein Coding	14.11	DISEASES inferred ¹⁵
5	UCHL1	Ubiquitin C-Terminal Hydrolase L1	Protein Coding	13.93	DISEASES inferred ¹⁵
6	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	13.88	DISEASES inferred ¹⁵
7	NF2	Neurofibromin 2	Protein Coding	13.8	DISEASES inferred ¹⁵
8	GFAP	Glial Fibrillary Acidic Protein	Protein Coding	13.59	DISEASES inferred ¹⁵
9	PDPN	Podoplanin	Protein Coding	11.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	CD34	CD34 Molecule	Protein Coding	10.92	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 ²³ Show member pathways Cell cycle ESR1 regulation of G1/S transition ²³ Cell cycle Regulation of G1/S transition (part 1) ²³ Immune response MIF-JAB1 signaling ²³	11.58	CDKN2A CDKN2B UCHL1
2	Neuroscience ⁴	11.46	GFAP NF1 NF2 UCHL1
3	Glioblastoma Multiforme ⁶⁵	11.18	CDKN2A NF1 NF2
4	Oncogene Induced Senescence ⁶⁷	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 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

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Sources for Atypical Neurofibroma

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