MCID: NRL002
MIFTS: 27

Neurilemmomatosis malady

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Neurilemmomatosis

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Aliases & Descriptions for Neurilemmomatosis:

Name: Neurilemmomatosis 11 13
 
Schwannomatosis 11 37 66

Classifications:



External Ids:

Disease Ontology11 DOID:3204
ICD1028 Q85.03
ICD9CM30 237.73
MeSH37 C536641
NCIt43 C6557

Summaries for Neurilemmomatosis

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MalaCards based summary: Neurilemmomatosis, also known as schwannomatosis, is related to schwannomatosis and distal trisomy 16q. An important gene associated with Neurilemmomatosis is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways are Transcription Ligand-dependent activation of the ESR1/SP pathway and Glioblastoma Multiforme. Affiliated tissues include skin, and related mouse phenotypes are embryo and vision/eye.

Related Diseases for Neurilemmomatosis

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

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1schwannomatosis11.8
2distal trisomy 16q10.4NF2, SMARCB1
3phencyclidine abuse10.4NF2, SMARCB1
4clear cell ependymoma10.3NF2, SMARCB1
5toxascariasis10.3NF2, SMARCB1
6spinal canal intradural extramedullary neoplasm10.3NF2, SMARCE1
7neurilemmoma of the fifth cranial nerve10.3NF2, SMARCB1
8watson syndrome10.2NF1, NF2
9ovarian disease10.2NF1, NF2
10conventional fibrosarcoma10.2NF1, NF2
11atypical neurofibroma10.2NF1, NF2
12tropical spastic paraparesis10.2NF1, NF2
13multiple mucosal neuroma10.2NF1, NF2
14bone lymphoma10.1NF1, NF2
15pseudoglandular variant testicular seminoma10.1NF1, SMARCB1
16epilepsy, familial focal, with variable foci10.1NF1, NF2
17hypoglossal nerve neoplasm10.1NF1, NF2
18trochlear nerve neoplasm10.1NF1, NF2
19papillary ependymoma10.1NF1, NF2
20non-congenital cyst of kidney10.1NF1, NF2
21neurofibromatosis10.1
22mental retardation, x-linked syndromic, christianson type10.0SMARCB1, SMARCE1
23brain sarcoma10.0NF1, SMARCB1
24alopecia, neurologic defects, and endocrinopathy syndrome10.0SMARCB1, SMARCE1
25esophagitis10.0NF1, NF2
26leopard syndrome 19.9LZTR1, NF1
27neurilemmoma9.9
28juvenile xanthogranuloma9.9
29neonatal infective mastitis9.9NF1, NF2
30y-linked disease9.8NF1, NF2
31tumor predisposition syndrome9.8NF1, SMARCB1
32angiokeratoma circumscriptum9.8NF1, NF2, SMARCB1
33vestibular gland benign neoplasm9.8NF1, NF2, SMARCB1
34degeneration of macula and posterior pole9.8NF1, NF2, SMARCB1
35stenosis of lacrimal sac9.8NF1, NF2, SMARCB1
36lymphoplasmacytic lymphoma9.7NF1, NF2
37expressive language disorder9.7NF1, NF2, SMARCE1
38xanthogranulomatous pyelonephritis9.7NF1, NF2, SMARCE1
39in situ carcinoma9.5NF1, NF2
40peritoneal benign neoplasm9.3LZTR1, NF1, NF2, SMARCB1
41autoimmune lymphoproliferative syndrome9.3NF1, NF2, SMARCB1, SMARCE1
42surfactant metabolism dysfunction, pulmonary, 58.5COQ6, LZTR1, NF1, NF2, SMARCB1
43schwannoma of twelfth cranial nerve8.5COQ6, LZTR1, NF1, NF2, SMARCB1
44plexiform schwannoma8.0COQ6, LZTR1, NF1, NF2, SMARCB1, SMARCE1

Graphical network of the top 20 diseases related to Neurilemmomatosis:



Diseases related to neurilemmomatosis

Symptoms for Neurilemmomatosis

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Drugs & Therapeutics for Neurilemmomatosis

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With SkypeCompletedNCT02298270
2Genetic Evaluation of NF1 and Scoliosis PatientsCompletedNCT01776125
3Neurofibromatosis (NF) Registry PortalRecruitingNCT01885767
4Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With NFActive, not recruitingNCT02435628

Search NIH Clinical Center for Neurilemmomatosis


Cochrane evidence based reviews: schwannomatosis

Genetic Tests for Neurilemmomatosis

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Anatomical Context for Neurilemmomatosis

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MalaCards organs/tissues related to Neurilemmomatosis:

34
Skin

Animal Models for Neurilemmomatosis or affiliated genes

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MGI Mouse Phenotypes related to Neurilemmomatosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.2COQ6, NF1, NF2, SMARCB1
2MP:00053918.2COQ6, NF1, NF2, SMARCB1
3MP:00107686.8COQ6, LZTR1, NF1, NF2, SMARCB1, SMARCE1

Publications for Neurilemmomatosis

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Articles related to Neurilemmomatosis:

idTitleAuthorsYear
1
Multiple Schwannomas of the Spine: Review of the Schwannomatosis or Congenital Neurilemmomatosis: A Case Report. (26217390)
2015
2
Neurilemmomatosis, NF2, and juvenile xanthogranuloma. (9810909)
1998
3
Follow-up study of a patient with neurilemmomatosis. (9366836)
1997
4
Neurofibromatosis 2 and neurilemmomatosis gene are identical. (7798645)
1995
5
Familial neurilemmomatosis: report of a case. (8219616)
1993
6
Congenital neurilemmomatosis. (1583187)
1992
7
Neurilemmomatosis. (1751355)
1991
8
Neurilemmomatosis and neurofibromatosis syndrome. (3935581)
1985
9
Multiple cutaneous neurilemmomas as a skin manifestation of neurilemmomatosis. (6427303)
1984

Variations for Neurilemmomatosis

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Clinvar genetic disease variations for Neurilemmomatosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SMARCB1NM_003073.4(SMARCB1): c.*82C> Tsingle nucleotide variantPathogenicrs878854600GRCh38Chr 22, 23834262: 23834262

Expression for genes affiliated with Neurilemmomatosis

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Search GEO for disease gene expression data for Neurilemmomatosis.

Pathways for genes affiliated with Neurilemmomatosis

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Pathways related to Neurilemmomatosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5SMARCB1, SMARCE1
29.4NF1, NF2

GO Terms for genes affiliated with Neurilemmomatosis

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Cellular components related to Neurilemmomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1npBAF complexGO:007156410.1SMARCB1, SMARCE1
2SWI/SNF complexGO:001651410.1SMARCB1, SMARCE1
3BAF-type complexGO:009054410.0SMARCB1, SMARCE1
4nBAF complexGO:00715659.5SMARCB1, SMARCE1
5protein complexGO:00432349.1NF2, SMARCB1, SMARCE1

Biological processes related to Neurilemmomatosis according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1nucleosome disassemblyGO:000633710.1SMARCB1, SMARCE1
2ATP-dependent chromatin remodelingGO:004304410.0SMARCB1, SMARCE1
3negative regulation of cell-matrix adhesionGO:00019539.9NF1, NF2
4chromatin remodelingGO:00063389.9SMARCB1, SMARCE1
5negative regulation of MAPK cascadeGO:00434099.8NF1, NF2
6covalent chromatin modificationGO:00165699.7SMARCB1, SMARCE1
7negative regulation of protein kinase activityGO:00064699.5NF1, NF2
8negative regulation of cell migrationGO:00303369.4NF1, NF2
9negative regulation of cell proliferationGO:00082858.7NF1, NF2, SMARCB1

Molecular functions related to Neurilemmomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA bindingGO:00009809.5SMARCB1, SMARCE1
2nucleosomal DNA bindingGO:00314929.2SMARCB1, SMARCE1

Sources for Neurilemmomatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet