MCID: NRL002
MIFTS: 26

Neurilemmomatosis malady

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Neurilemmomatosis

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Aliases & Descriptions for Neurilemmomatosis:

Name: Neurilemmomatosis 10 12
 
Schwannomatosis 10 36 65

Classifications:



External Ids:

Disease Ontology10 DOID:3204
ICD1027 Q85.03
ICD9CM29 237.73
MeSH36 C536641
NCIt42 C6557
UMLS65 C1335929

Summaries for Neurilemmomatosis

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MalaCards based summary: Neurilemmomatosis, also known as schwannomatosis, is related to schwannomatosis and distal trisomy 20q. An important gene associated with Neurilemmomatosis is NF2 (Neurofibromin 2 (Merlin)), and among its related pathways is Glioblastoma Multiforme. Affiliated tissues include prostate, breast and uterus, and related mouse phenotypes are tumorigenesis 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 35)
idRelated DiseaseScoreTop Affiliating Genes
1schwannomatosis11.8
2distal trisomy 20q10.2NF2, SMARCB1
3childhood cerebellar neoplasm10.2NF2, SMARCB1
4papillary ependymoma10.1NF2, SMARCB1
5merrf syndrome10.1NF2, SMARCB1
6neurofibromatosis10.1
7male reproductive organ benign neoplasm10.0NF2, SMARCB1
8adult fibrosarcoma9.9NF1, NF2
9corneal neovascularization9.9NF1, NF2
10pyelonephritis9.9NF1, NF2
11cellular neurofibroma9.9NF1, NF2
12neurilemmoma9.9
13juvenile xanthogranuloma9.9
14borna disease9.9NF1, NF2
15chest wall lymphoma9.9NF1, NF2
16complement component 3 deficiency9.9NF1, SMARCB1
17junctional epidermolysis bullosa9.9NF1, NF2
18schwannoma of twelfth cranial nerve9.8NF1, NF2
19subclavian artery aneurysm9.8NF1, NF2
20tanycytic ependymoma9.8NF1, NF2
21vesicoureteral reflux9.7NF1, NF2
22breast adenomyoepithelial adenosis9.7NF1, SMARCB1
23ischemic neuropathy9.7NF1, NF2
24qazi markouizos syndrome9.6NF1, NF2
25decubitus ulcer9.6NF1, NF2
26autosomal recessive disease9.5NF1, NF2
27preretinal fibrosis9.5NF1, NF2, SMARCB1
28cellular schwannoma9.5NF1, NF2, SMARCB1
29angiokeratoma of mibelli9.5NF1, NF2, SMARCB1
30germ cell and embryonal cancer9.5NF1, NF2, SMARCB1
31autoimmune lymphoproliferative syndrome9.4NF1, NF2, SMARCB1
32leopard syndrome 19.2LZTR1, NF1
33sensory system cancer8.9LZTR1, NF1, NF2, SMARCB1
34melanotic neurilemmoma8.4COQ6, LZTR1, NF1, NF2, SMARCB1
35epilepsy, familial focal, with variable foci8.4COQ6, LZTR1, NF1, NF2, SMARCB1

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:

33
Prostate, Breast, Uterus, Skin

Animal Models for Neurilemmomatosis or affiliated genes

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MGI Mouse Phenotypes related to Neurilemmomatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.8NF1, NF2, SMARCB1
2MP:00053918.2COQ6, NF1, NF2, SMARCB1
3MP:00107687.5COQ6, LZTR1, NF1, NF2, SMARCB1

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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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
19.2NF1, NF2

GO Terms for genes affiliated with Neurilemmomatosis

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell-matrix adhesionGO:00019539.6NF1, NF2
2negative regulation of cell migrationGO:00303369.2NF1, NF2
3negative regulation of cell proliferationGO:00082858.9NF1, NF2

Sources for Neurilemmomatosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet