NF3
MCID: NRL002
MIFTS: 35

Neurilemmomatosis (NF3) malady

Genetic diseases, Rare diseases, Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Neurilemmomatosis

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Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Neurilemmomatosis, also known as schwannomatosis, is related to meningioma and neurilemmoma. An important gene associated with Neurilemmomatosis is NF2 (neurofibromin 2 (merlin)). Affiliated tissues include skin.

Description from OMIM:48 162091,162260,615670

Aliases & Classifications for Neurilemmomatosis

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 36MeSH, 41NCIt, 28ICD9CM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
schwannomatosis:
Inheritance: Autosomal dominant


Aliases & Descriptions:

neurilemmomatosis 9 50
schwannomatosis 9 10 44 21 23 48 46 50 63
neurofibromatosis, type iii, mixed central and peripheral 63
congenital cutaneous neurilemmomatosis 44
neurilemmomatosis congenital cutaneous 44
neurofibromatosis type 3 50
nf3 50


External Ids:

Disease Ontology9 DOID:3204
MeSH36 C536641
NCIt41 C6557
ICD9CM28 237.73
MESH via Orphanet37 C536641
ICD10 via Orphanet27 Q85.0
SNOMED-CT via Orphanet60 254240003
UMLS via Orphanet64 C0917817, C1335929

Related Diseases for Neurilemmomatosis

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18GeneCards, 19GeneDecks
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Diseases related to Neurilemmomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1meningioma30.3SMARCB1, NF2
2neurilemmoma30.0SMARCB1, NF2
3neurofibromatosis type 3a10.3
4neurofibromatosis10.2
5schwannomatosis-210.2
6juvenile xanthogranuloma10.0
7schwannomatosis-110.0
8epithelioid malignant peripheral nerve sheath tumor10.0
9plexiform schwannoma10.0
10malignant peripheral nerve sheath tumor10.0
11neuroblastoma10.0
12sarcoma10.0SMARCB1, NF2
13brain cancer9.9SMARCB1, NF2

Graphical network of diseases related to Neurilemmomatosis:



Diseases related to neurilemmomatosis

Symptoms for Neurilemmomatosis

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48OMIM
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Clinical features from OMIM:

162091,162260,615670

Drugs & Therapeutics for Neurilemmomatosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Neurilemmomatosis

Drug clinical trials:

Search ClinicalTrials for Neurilemmomatosis

Search NIH Clinical Center for Neurilemmomatosis

Search CenterWatch for Neurilemmomatosis

Genetic Tests for Neurilemmomatosis

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Neurilemmomatosis:

id Genetic test Affiliating Genes
1 Schwannomatosis21 23 SMARCB1

Anatomical Context for Neurilemmomatosis

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34MalaCards
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MalaCards organs/tissues related to Neurilemmomatosis:

34
Skin

Animal Models for Neurilemmomatosis or affiliated genes

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Publications for Neurilemmomatosis

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53PubMed
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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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Expression for genes affiliated with Neurilemmomatosis

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neurilemmomatosis

Search GEO for disease gene expression data for Neurilemmomatosis.

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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Sources:
17Gene Ontology
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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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  • Antibodies
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  • Antibodies

Sources for Neurilemmomatosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet