MCID: NRL002
MIFTS: 29

Neurilemmomatosis malady

Cancer diseases category

Aliases & Classifications for Neurilemmomatosis

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Aliases & Descriptions for Neurilemmomatosis:

Name: Neurilemmomatosis 10 12
 
Schwannomatosis 10 65 36


Classifications:



External Ids:

Disease Ontology10 DOID:3204
NCIt42 C6557
ICD9CM29 237.73
MeSH36 C536641

Summaries for Neurilemmomatosis

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MalaCards based summary: Neurilemmomatosis, also known as schwannomatosis, is related to meningioma, familial and schwannomatosis. An important gene associated with Neurilemmomatosis is NF2 (Neurofibromin 2 (Merlin)), and among its related pathways are AMPK Enzyme Complex Pathway and Neuroscience. Affiliated tissues include skin, and related mouse phenotypes are tumorigenesis and craniofacial.

Related Diseases for Neurilemmomatosis

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1meningioma, familial30.1NF1, NF2, SMARCB1, SMARCE1, SUFU
2schwannomatosis10.5
3schwannomatosis-210.3
4distal trisomy 20q10.3NF2, SMARCB1
5rhabdomyosarcoma10.3NF2, SMARCB1
6rete testis adenoma10.3NF1, NF2
7uterine corpus adenofibroma10.3NF1, NF2
8gliofibroma10.3NF1, NF2
9spinal chordoma10.3NF2, SMARCE1
10mental retardation with language impairment and autistic features10.3SMARCE1, SUFU
11paranoid schizophrenia10.3SMARCB1, SUFU
12cerebrovascular disease10.2SMARCB1, SUFU
13neurofibromatosis10.2
14ovarian endometrioid stromal sarcoma10.2NF1, NF2, NFIX
15cervical adenitis10.2SMARCB1, SUFU
16cavernous sinus meningioma10.2ENO2, NF2
17petrous apex meningioma10.2ENO2, SMARCB1
18nphp3-related meckel-like syndrome10.2SMARCB1, SMARCE1, SUFU
19landau-kleffner syndrome10.2ENO2, SMARCB1
20x-linked dominant intellectual disability - epilepsy10.2COQ6, LZTR1, NF2, SMARCB1
21neurofibromatosis, type 210.2
22nasal cavity carcinoma in situ10.2ENO2, NF1
23chronic progressive external ophthalmoplegia10.2NF1, PMP22
24neuritis10.2NF1, NF2, PRKAR1A, SMARCB1
25renal artery disease10.1LATS1, WT1
26clear cell chondrosarcoma10.1ENO2, NF1, NF2
27paroxysmal nocturnal hemoglobinuria10.1ENO2, LATS1
28optic neuritis10.1ENO2, NF1, NF2
29childhood leukemia10.1LATS1, SMARCB1, WT1
30congenital nervous system abnormality10.1LATS1, SMARCB1, WT1
31epilepsy, familial focal, with variable foci10.1COQ6, LZTR1, NF1, NF2, SMARCB1
32milk allergic reaction10.1ENO2, WT1
33juvenile xanthogranuloma10.1
34neurilemmoma10.1
35neurofibromatosis type 310.1
36synucleinopathy10.1SMARCB1, WT1
37central nervous system fibrosarcoma10.1ENO2, SMARCB1, SUFU
38rectum signet ring adenocarcinoma10.1LATS1, WT1
39spinal cord glioma10.1NF1, NF2
40cholecystolithiasis10.1NFIC, NFIX
41neuromuscular disease10.1ENO2, NF1, NF2, SMARCB1
42survival motor neuron spinal muscular atrophy10.1ENO2, SMARCB1
43nervous system disease10.1ENO2, NF1, NF2, SMARCB1
44rhabdoid meningioma10.0SMARCB1, WT1
45mixed mineral dust pneumoconiosis10.0NF1, NFIC, NFIX
46pulmonary plasma cell granuloma10.0ENO2, SMARCB1, WT1
47neuroblastoma10.0
48epithelioid malignant peripheral nerve sheath tumor10.0
49plexiform schwannoma10.0
50leiomyoma10.0

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
2Neurofibromatosis (NF) Registry PortalRecruitingNCT01885767
3Relationship Between Psychosocial Factors, Health Literacy, Quality of Life and Satisfaction With Medical Visits in Adults With NFRecruitingNCT02435628
4Genetic Evaluation of NF1 and Scoliosis PatientsRecruitingNCT01776125

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
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:00020069.3LATS1, NF1, NF2, PRKAR1A, SMARCB1, SUFU
2MP:00053828.3ENO2, LZTR1, NF1, NF2, NFIC, NFIX
3MP:00053787.6LATS1, NF1, NF2, NFIC, NFIX, PMP22
4MP:00053897.5LATS1, MSH4, NF2, NFIC, PMP22, PRKAR1A
5MP:00036317.1ENO2, LATS1, NF1, NF2, NFIC, NFIX
6MP:00107685.8HAUS3, LATS1, LZTR1, NF1, NF2, NFIC

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5PRKAR1A, PRKAR1B, SMARCB1, SMARCE1
29.3ENO2, NF2, PRKAR1A, PRKAR1B

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
1SWI/SNF complexGO:001651410.5SMARCB1, SMARCE1
2cAMP-dependent protein kinase complexGO:000595210.5PRKAR1A, PRKAR1B
3BAF-type complexGO:009054410.4SMARCB1, SMARCE1
4ciliary baseGO:009754610.2PRKAR1A, PRKAR1B, SUFU
5nuclear chromosomeGO:000022810.1MSH4, SMARCB1, SMARCE1
6npBAF complexGO:007156410.0PHF10, SMARCB1, SMARCE1
7nBAF complexGO:00715659.7SMARCB1, SMARCE1
8protein complexGO:00432349.1NF2, PRKAR1A, PROS1, SMARCB1, SMARCE1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1activation of protein kinase A activityGO:003419910.4PRKAR1A, PRKAR1B
2negative regulation of cAMP-dependent protein kinase activityGO:200048010.4PRKAR1A, PRKAR1B
3negative regulation of cell-matrix adhesionGO:000195310.2NF1, NF2
4nucleosome disassemblyGO:000633710.2SMARCB1, SMARCE1
5negative regulation of transcription factor import into nucleusGO:00429929.9NF1, SUFU
6negative regulation of MAPK cascadeGO:00434099.8NF1, NF2
7negative regulation of protein kinase activityGO:00064699.7NF1, NF2, PRKAR1A

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

idNameGO IDScoreTop Affiliating Genes
1cAMP-dependent protein kinase inhibitor activityGO:000486210.0PRKAR1A, PRKAR1B
2cAMP-dependent protein kinase regulator activityGO:000860310.0PRKAR1A, PRKAR1B
3protein kinase A catalytic subunit bindingGO:00342369.7PRKAR1A, PRKAR1B

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