NF3
MCID: NRL002
MIFTS: 36

Neurilemmomatosis (NF3) malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Neurilemmomatosis

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NIH Rare Diseases:42 Schwannomatosis is a rare form of neurofibromatosis that is genetically and clinically distinct from nf1 and nf2.  inherited forms of the disorder account for only 15 percent of all cases.  researchers have identified a mutation of the smarcb1/ini1 gene that is associated with the familial form of the disease but don’t fully understand what causes the intense pain that characterizes this disorder. in addition to severe chronic pain, other neurological symptoms such as numbness, tingling, or weakness in the fingers and toes may occur. the pain associated with schwannomatosis may be managed with surgery and medication. last updated: 2/10/2010

MalaCards based summary: Neurilemmomatosis, also known as schwannomatosis, is related to meningioma and neurilemmoma, and has symptoms including An important gene associated with Neurilemmomatosis is NF2 (neurofibromin 2 (merlin)). Affiliated tissues include skin.

Descriptions from OMIM:46 162091,162260,615670

Aliases & Classifications for Neurilemmomatosis

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Sources:
8Disease Ontology, 48Orphanet, 62UMLS, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 27ICD9CM, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Neurilemmomatosis, Aliases & Descriptions:

Name: Neurilemmomatosis 8 48 62
Schwannomatosis 8 9 42 20 22 46 44 48 62
Neurofibromatosis Type 3 48 62
Neurofibromatosis, Type Iii, Mixed Central and Peripheral 62
 
Neurilemmomatosis, Congenital Cutaneous 62
Congenital Cutaneous Neurilemmomatosis 42
Neurilemmomatosis Congenital Cutaneous 42
Nf3 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
schwannomatosis:
Inheritance: Autosomal dominant


External Ids:

Disease Ontology8 DOID:3204
ICD9CM27 237.73
MeSH34 C536641
NCIt39 C6557
MESH via Orphanet35 C536641
ICD10 via Orphanet26 Q85.0
UMLS via Orphanet63 C0917817, C1335929

Related Diseases for Neurilemmomatosis

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Graphical network of diseases related to Neurilemmomatosis:



Diseases related to neurilemmomatosis

Symptoms for Neurilemmomatosis

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Clinical features from OMIM:

162091,162260,615670

HPO human phenotypes related to Neurilemmomatosis:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 meningioma HP:0002858
3 paraspinal neurofibromas HP:0006751
4 few cafe-au-lait spots HP:0007429
5 palmar neurofibromas HP:0007576
6 bilateral vestibular schwannoma HP:0009589
7 lisch nodules HP:0009737

Drugs & Therapeutics for Neurilemmomatosis

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Drug clinical trials:

Search ClinicalTrials for Neurilemmomatosis

Search NIH Clinical Center for Neurilemmomatosis

Genetic Tests for Neurilemmomatosis

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Genetic tests related to Neurilemmomatosis:

id Genetic test Affiliating Genes
1 Schwannomatosis20 22 SMARCB1

Anatomical Context for Neurilemmomatosis

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MalaCards organs/tissues related to Neurilemmomatosis:

32
Skin

Animal Models for Neurilemmomatosis or affiliated genes

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Publications for Neurilemmomatosis

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Articles related to Neurilemmomatosis:

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

Variations for Neurilemmomatosis

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Clinvar genetic disease variations for Neurilemmomatosis:

6
id Gene Name Type Significance SNP ID Assembly Location
1NF2NC_000022.11: g.(29668447_29671826)_(29681601_?)deldeletionPathogenicGRCh38Chr 22, 29671826: 29681601
2NF2NM_000268.3(NF2): c.125_126insG (p.Gly43Argfs)insertionPathogenicGRCh37Chr 22, 30032750: 30032751
3NF2NM_000268.3(NF2): c.205_211delAAGGACA (p.Lys69Glnfs)deletionPathogenicGRCh37Chr 22, 30032830: 30032836

Expression for genes affiliated with Neurilemmomatosis

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Expression patterns in normal tissues for genes affiliated with Neurilemmomatosis

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Pathways for genes affiliated with Neurilemmomatosis

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Compounds for genes affiliated with Neurilemmomatosis

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GO Terms for genes affiliated with Neurilemmomatosis

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Biological processes related to Neurilemmomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell proliferationGO:0082859.0NF2, SMARCB1

Products for genes affiliated with Neurilemmomatosis

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Sources for Neurilemmomatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet