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

#	Related Disease	Score	Top Affiliating Genes
1	neurofibroma	30.1	TP53 SOX10 NF2 NF1 CDKN2A
2	malignant peripheral nerve sheath tumor	29.9	TP53 SOX10 NF2 NF1 CDKN2A
3	neurofibromatosis, type i	29.9	TP53 SUZ12 NF2 NF1 CDKN2A
4	neurilemmoma	28.8	SOX10 SMARCB1 NF2 NF1 LZTR1
5	neurofibromatosis	28.8	TP53 SUZ12 SMARCB1 NF2 NF1 LZTR1
6	neurilemmomatosis	28.2	SOX10 SMARCB1 SMARCA2 NF2 NF1 LZTR1
7	plexiform neurofibroma	28.1	TP53 SUZ12 SOX10 SMARCB1 NF2 NF1
8	childhood malignant schwannoma	10.3	SUZ12 NF1
9	cellular neurofibroma	10.3	SOX10 NF1
10	malignant glandular tumor of peripheral nerve sheath	10.3	SOX10 NF1
11	gastric liposarcoma	10.3	NF1 CDKN2A
12	malignant triton tumor	10.3	SOX10 NF1
13	acral lentiginous melanoma	10.3	NF1 CDKN2A
14	epithelioid neurofibroma	10.3	NF2 NF1
15	neurilemmoma of the fifth cranial nerve	10.2	NF2 NF1
16	small intestine leiomyoma	10.2	NF2 NF1
17	trigeminal nerve neoplasm	10.2	NF2 NF1
18	spinal cord astrocytoma	10.2	NF2 NF1
19	epidural spinal canal neoplasm	10.2	NF2 NF1
20	orbital cancer	10.2	NF2 NF1
21	polyp of corpus uteri	10.2	NF2 NF1
22	intravascular fasciitis	10.2	SOX10 CDKN2A
23	rete ovarii adenoma	10.2	NF2 NF1
24	anus basaloid carcinoma	10.2	SOX10 CDKN2A
25	rete ovarii benign neoplasm	10.2	NF2 NF1
26	spinal cord oligodendroglioma	10.2	TP53 NF1
27	b-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	10.2	TP53 CDKN2A
28	endometrial squamous cell carcinoma	10.2	TP53 CDKN2A
29	esophagus verrucous carcinoma	10.2	TP53 CDKN2A
30	verrucous carcinoma	10.2	TP53 CDKN2A
31	optic nerve glioma	10.2	NF2 NF1
32	juvenile pilocytic astrocytoma	10.2	TP53 NF1
33	bizarre leiomyoma	10.2	TP53 CDKN2A
34	intraneural perineurioma	10.2	SOX10 NF2
35	cervical adenosarcoma	10.2	TP53 SUZ12
36	squamous cell papilloma	10.2	TP53 CDKN2A
37	penile benign neoplasm	10.2	TP53 CDKN2A
38	larynx squamous papilloma	10.2	TP53 CDKN2A
39	suppressor of tumorigenicity 3	10.2	TP53 CDKN2A
40	fibrillary astrocytoma	10.2	TP53 NF1
41	conjunctival squamous cell carcinoma	10.2	TP53 CDKN2A
42	sarcomatoid mesothelioma	10.2	NF2 CDKN2A
43	bladder clear cell adenocarcinoma	10.2	TP53 CDKN2A
44	lip cancer	10.2	TP53 CDKN2A
45	male urethral cancer	10.2	TP53 CDKN2A
46	spinal cord glioma	10.2	NF2 NF1
47	chronic cervicitis	10.2	TP53 CDKN2A
48	mucosal melanoma	10.2	SOX10 NF1 CDKN2A
49	lymphoepithelioma-like carcinoma	10.2	TP53 CDKN2A
50	basaloid squamous cell carcinoma	10.2	TP53 CDKN2A

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

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Symptoms & Phenotypes for Atypical Neurofibroma

GenomeRNAi Phenotypes related to Atypical Neurofibroma according to GeneCards Suite gene sharing:

²⁵ (show all 22)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-1	9.89	CDKN2A NF1 SMARCB1 SUZ12
2	Decreased viability	GR00221-A-2	9.89	NF1 SMARCB1 SUZ12
3	Decreased viability	GR00221-A-3	9.89	CDKN2A SMARCB1
4	Decreased viability	GR00221-A-4	9.89	CDKN2A NF1
5	Decreased viability	GR00249-S	9.89	NF1 SMARCB1 SUZ12
6	Decreased viability	GR00381-A-1	9.89	SMARCB1
7	Decreased viability	GR00386-A-1	9.89	NF1 SUZ12
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.47	EED
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.47	EED
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-13	9.47	SUZ12
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-155	9.47	EED
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	9.47	SMARCB1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-181	9.47	SUZ12
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-190	9.47	SUZ12
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-194	9.47	SMARCB1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-208	9.47	SUZ12
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-54	9.47	EED
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.47	SUZ12
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-75	9.47	SMARCB1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-97	9.47	EED
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-98	9.47	EED
22	Increased proliferation	GR00094-A	9.33	NF2 SMARCB1 TP53

MGI Mouse Phenotypes related to Atypical Neurofibroma:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.06	AEBP2 CDKN2A EED LZTR1 NF1 NF2
2	pigmentation	MP:0001186	10.01	AEBP2 CDKN2A EED NF1 NF2 SOX10
3	neoplasm	MP:0002006	9.97	CDKN2A NF1 NF2 SMARCA2 SMARCB1 SOX10
4	embryo	MP:0005380	9.86	CDKN2A NF1 NF2 SMARCB1 SOX10 SUZ12
5	digestive/alimentary	MP:0005381	9.76	AEBP2 CDKN2A NF1 NF2 SMARCA2 SMARCB1
6	mortality/aging	MP:0010768	9.7	AEBP2 CDKN2A LZTR1 NF1 NF2 SMARCA2
7	integument	MP:0010771	9.28	AEBP2 CDKN2A EED NF1 NF2 SMARCA2

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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 and High Plexiform Neurofibroma Tumor Burden	Active, not recruiting	NCT03820778

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

Organs/tissues related to Atypical Neurofibroma:

MalaCards : Skin

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Publications for Atypical Neurofibroma

Articles related to Atypical Neurofibroma:

(show all 25)

#	Title	Authors	PMID	Year
1	Peripheral Nerve Sheath Tumors Resembling Human Atypical Neurofibroma in Goldfish (Carassius auratus, Linnaeus, 1758). ⁶²	Armando F...Puff C	34573587	2021
2	Laryngeal malignant peripheral nerve sheath tumor mixed with high- and low-grade malignancies. ⁶²	Kajiyama T...Hyodo M	34476079	2021
3	Prevalence of oral neurofibroma in Central Indian population: A retrospective study of 20 years. ⁶²	Gosavi SR...Datarkar A	34349407	2021
4	Cdkn2a Loss in a Model of Neurofibroma Demonstrates Stepwise Tumor Progression to Atypical Neurofibroma and MPNST. ⁶²	Chaney KE...Ratner N	32816910	2020
5	Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation. ⁶²	Rhodes SD...Clapp DW	31091306	2019
6	Cutaneous Atypical Neurofibroma: A Case Report and Review of Literature. ⁶²	Mesbah Ardakani N...Wood BA	28719433	2018
7	Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. ⁶²	Miettinen MM...Perry A	28551330	2017
8	Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics. ⁶²	Schaefer IM...Hornick JL	26585554	2016
9	A rare case of recurrent malignant triton tumor in a male with NF1: Case report and mini-review. ⁶²	Aykut B...Hoffmann K	26975033	2016
10	Vascular Innervation in Benign Neurofibromas of Patients with Neurofibromatosis Type 1. ⁶²	Friedrich RE...Hagel C	26637864	2015
11	The effect of surgical margins on outcomes for low grade MPNSTs and atypical neurofibroma. ⁶²	Bernthal NM...Randall RL	25111615	2014
12	Lost in translation: ambiguity in nerve sheath tumor nomenclature and its resultant treatment effect. ⁶²	Bernthal NM...Randall RL	24216989	2013
13	18-fluorodeoxyglucose-positron emission tomography (FDG-PET) evaluation of nodular lesions in patients with Neurofibromatosis type 1 and plexiform neurofibromas (PN) or malignant peripheral nerve sheath tumors (MPNST). ⁶²	Meany H...Widemann B	22645095	2013
14	Surgery for atypical plexiform neurofibromas of the trunk in NF1 with high standardised uptake value (SUV) in positron-emission tomography (PET) expressing podoplanin: a long-term follow-up. ⁶²	Friedrich RE...Hagel C	23060584	2012
15	Pathology of peripheral nerve sheath tumors: diagnostic overview and update on selected diagnostic problems. ⁶²	Rodriguez FJ...Perry A	22327363	2012
16	Atypical neurofibroma and osteosclerotic metastasis. ⁶²	Varyani N...Tripathi K	22606453	2012
17	Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. ⁶²	Beert E...Legius E	21987445	2011
18	Podoplanin and CD34 in peripheral nerve sheath tumours: focus on neurofibromatosis 1-associated atypical neurofibroma. ⁶²	Naber U...Hagel C	20821344	2011
19	Atypical plexiform neurofibroma in NF1 with high standardised uptake value (SUV) in positron-emission tomography (PET) expressing podoplanin. ⁶²	Friedrich RE...Hagel C	21164047	2010
20	Atypical neurofibroma of the skin and subcutaneous tissue: clinicopathologic analysis of 11 cases. ⁶²	Jokinen CH...Argenyi ZB	19469864	2010
21	Hybrid schwannoma/perineurioma: clinicopathologic analysis of 42 distinctive benign nerve sheath tumors. ⁶²	Hornick JL...Fletcher CD	19623031	2009
22	Radiation induced peripheral nerve tumors: case series and review of the literature. ⁶²	Zadeh G...Guha A	17206473	2007
23	DNA ploidy and chromosome (FISH) pattern analysis of peripheral nerve sheath tumors. ⁶²	Hruska A...Sapi Z	15623944	2004
24	Low grade malignant peripheral nerve sheath tumour: varied cytological and histological patterns. ⁶²	Yamaguchi U...Beppu Y	14600126	2003
25	[Clinically atypical neurofibroma]. ⁶²	Degos R...Mougeot B	4678527	1972

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Genes for Atypical Neurofibroma

Genes related to Atypical Neurofibroma (0 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NF1	Neurofibromin 1	Protein Coding	7.46	DISEASES inferred ¹⁴
2	SUZ12	SUZ12 Polycomb Repressive Complex 2 Subunit	Protein Coding	6.87	DISEASES inferred ¹⁴
3	VPS41	VPS41 Subunit Of HOPS Complex	Protein Coding	6.03	DISEASES inferred ¹⁴
4	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	6.02	DISEASES inferred ¹⁴
5	MIR29C	MicroRNA 29c	RNA Gene	6.01	DISEASES inferred ¹⁴ ¹⁴
6	SOX10	SRY-Box Transcription Factor 10	Protein Coding	5.68	DISEASES inferred ¹⁴
7	EED	Embryonic Ectoderm Development	Protein Coding	5.38	DISEASES inferred ¹⁴
8	KRTAP13-4	Keratin Associated Protein 13-4	Protein Coding	5.08	DISEASES inferred ¹⁴
9	NF2	NF2, Moesin-Ezrin-Radixin Like (MERLIN) Tumor Suppressor	Protein Coding	5.02	DISEASES inferred ¹⁴
10	TP53	Tumor Protein P53	Protein Coding	4.94	DISEASES inferred ¹⁴
11	SMARCA2	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2	Protein Coding	4.86	DISEASES inferred ¹⁴
12	LZTR1	Leucine Zipper Like Transcription Regulator 1	Protein Coding	4.61	DISEASES inferred ¹⁴
13	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	4.61	DISEASES inferred ¹⁴
14	AEBP2	AE Binding Protein 2	Protein Coding	4.6	DISEASES inferred ¹⁴

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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:

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Chromatin organization ⁶⁶ Show member pathways Chromatin modifying enzymes ⁶⁶ HATs acetylate histones ⁶⁶	12.6	SUZ12 SMARCB1 SMARCA2 EED AEBP2
2	Cellular Senescence ⁶⁶ Show member pathways Oxidative Stress Induced Senescence ⁶⁶ Senescence-Associated Secretory Phenotype (SASP) ⁶⁶	12.42	TP53 SUZ12 EED CDKN2A
3	Malignant pleural mesothelioma ⁷⁴	12.17	TP53 SUZ12 NF2 EED CDKN2A
4	Chromatin Regulation / Acetylation ³	11.96	SUZ12 SMARCB1 SMARCA2 AEBP2
5	Epithelial to mesenchymal transition in colorectal cancer ⁷⁴	11.89	TP53 SUZ12 EED
6	PKMTs methylate histone lysines ⁶⁶ Show member pathways Histone modifications ⁷⁴	11.74	SUZ12 EED AEBP2
7	BRCA1 Pathway ⁶⁴ Show member pathways Fanconi's Anaemia Pathway ⁶⁴	11.42	TP53 SMARCB1 SMARCA2
8	Inhibition of Ribosome Biogenesis by p14(ARF) ⁶⁴	10.84	TP53 CDKN2A
9	TP53 network ⁷⁴ Show member pathways Activation, translocation and oligomerization of BAX ⁶⁶	10.76	TP53 CDKN2A
10	Hypoxic and oxygen homeostasis regulation of HIF-1-alpha ⁶¹	10.63	TP53 CDKN2A
11	Tumor suppressor activity of SMARCB1 ⁷⁴ Show member pathways GLI proteins bind promoters of Hh responsive genes to promote transcription ⁶⁶	10.46	SUZ12 SMARCB1 EED CDKN2A
12	Interactome of polycomb repressive complex 2 (PRC2) ⁷⁴	10.34	SUZ12 EED AEBP2

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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	bBAF complex	GO:0140092	9.62	SMARCB1 SMARCA2
2	DNA packaging complex	GO:0044815	9.26	SMARCB1 SMARCA2
3	germ cell nucleus	GO:0043073	9.26	TP53 SMARCB1
4	SWI/SNF superfamily-type complex	GO:0070603	9.16	SMARCB1 SMARCA2
5	ESC/E(Z) complex	GO:0035098	9.1	SUZ12 EED AEBP2

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

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell differentiation	GO:0045597	9.93	SMARCB1 SMARCA2 NF2
2	negative regulation of protein kinase activity	GO:0006469	9.91	NF2 NF1 CDKN2A
3	regulation of G1/S transition of mitotic cell cycle	GO:2000045	9.91	SMARCB1 SMARCA2 CDKN2A
4	oligodendrocyte differentiation	GO:0048709	9.88	SUZ12 SOX10 NF1
5	chromatin organization	GO:0006325	9.87	AEBP2 EED SMARCA2 SMARCB1 SUZ12
6	neuroblast proliferation	GO:0007405	9.85	TP53 SOX10 NF1
7	negative regulation of neuroblast proliferation	GO:0007406	9.78	TP53 NF1
8	negative regulation of cell population proliferation	GO:0008285	9.73	TP53 SMARCB1 SMARCA2 NF2 NF1 MIR29C
9	negative regulation of glial cell proliferation	GO:0060253	9.67	TP53 NF1
10	negative regulation of Schwann cell proliferation	GO:0010626	9.63	SOX10 NF2 NF1
11	Schwann cell proliferation	GO:0014010	9.56	NF2 NF1
12	negative regulation of cell-matrix adhesion	GO:0001953	9.17	NF2 NF1 MIR29C CDKN2A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin binding	GO:0003682	9.5	TP53 SUZ12 SOX10 SMARCA2 EED
2	promoter-specific chromatin binding	GO:1990841	9.1	TP53 SUZ12 SOX10

Sources

Sources for Atypical Neurofibroma

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ATY004 MIFTS: 30	Atypical Neurofibroma Categories: Cancer diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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