NF3
MCID: NRL002
MIFTS: 36

Neurilemmomatosis (NF3) malady

Neuronal diseases, Skin diseases, Fetal diseases, Cancer diseases categories

Summaries for Neurilemmomatosis

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Sources:
42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Neurilemmomatosis, also known as schwannomatosis, is related to neurofibromatosis and neurilemmoma. An important gene associated with Neurilemmomatosis is NF2 (neurofibromin 2 (merlin)). Affiliated tissues include skin.

Description from OMIM:46 162091,162260,615670

Aliases & Classifications for Neurilemmomatosis

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8Disease Ontology, 48Orphanet, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 60UMLS, 27ICD9CM, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
schwannomatosis:
Inheritance: Autosomal dominant


Aliases & Descriptions:

neurilemmomatosis 8 48
schwannomatosis 8 9 42 20 22 46 44 48 60
neurofibromatosis, type iii, mixed central and peripheral 60
congenital cutaneous neurilemmomatosis 42
neurilemmomatosis congenital cutaneous 42
neurofibromatosis type 3 48
nf3 48


External Ids:

Disease Ontology8 DOID:3204
ICD9CM27 237.73
MeSH34 C536641
NCIt39 C6557
MESH via Orphanet35 C536641
ICD10 via Orphanet26 Q85.0
SNOMED-CT via Orphanet57 254240003
UMLS via Orphanet61 C0917817, C1335929

Related Diseases for Neurilemmomatosis

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Neurilemmomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis30.2NF2
2neurilemmoma30.0SMARCB1, NF2
3neurofibromatosis type 3a10.3
4meningioma10.2
5familial meningioma10.1
6juvenile xanthogranuloma10.0
7ependymoma10.0NF2
8gastrointestinal stromal tumor10.0NF2
9plexiform schwannoma10.0
10epithelioid malignant peripheral nerve sheath tumor10.0
11malignant peripheral nerve sheath tumor10.0
12neuroblastoma10.0
13peripheral nerve schwannoma10.0
14brain cancer10.0NF2, SMARCB1

Graphical network of diseases related to Neurilemmomatosis:



Diseases related to neurilemmomatosis

Clinical Features for Neurilemmomatosis

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Sources:
46OMIM
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Clinical features from OMIM:

162091,162260,615670

Clinical synopsis from OMIM:

162091

Drugs & Therapeutics for Neurilemmomatosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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:
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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Sources:
32MalaCards
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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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Sources:
50PubMed
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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

Genetic Variations for Neurilemmomatosis

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Expression for genes affiliated with Neurilemmomatosis

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Sources:
1BioGPS, 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:0082859.0SMARCB1, NF2

Products for genes affiliated with Neurilemmomatosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet