NF3
MCID: NRL002
MIFTS: 35

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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Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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:47 162091,162260,615670

Aliases & Classifications for Neurilemmomatosis

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 40NCIt, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
schwannomatosis:
Inheritance: Autosomal dominant


Aliases & Descriptions:

neurilemmomatosis 8 49
schwannomatosis 8 9 43 20 22 47 45 49 62
neurofibromatosis, type iii, mixed central and peripheral 62
congenital cutaneous neurilemmomatosis 43
neurilemmomatosis congenital cutaneous 43
neurofibromatosis type 3 49
nf3 49


External Ids:

Disease Ontology8 DOID:3204
MeSH35 C536641
NCIt40 C6557
ICD9CM27 237.73
MESH via Orphanet36 C536641
ICD10 via Orphanet26 Q85.0
SNOMED-CT via Orphanet59 254240003
UMLS via Orphanet63 C0917817, C1335929

Related Diseases for Neurilemmomatosis

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17GeneCards, 18GeneDecks
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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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47OMIM
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Clinical features from OMIM:

162091,162260,615670

Drugs & Therapeutics for Neurilemmomatosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Neurilemmomatosis:

33
Skin

Animal Models for Neurilemmomatosis or affiliated genes

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Publications for Neurilemmomatosis

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52PubMed
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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, 15Gene 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:
16Gene 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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Sources for Neurilemmomatosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet