MCID: NRL002
MIFTS: 23

Neurilemmomatosis malady

Neuronal diseases category

Summaries for Neurilemmomatosis

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

Aliases & Classifications for Neurilemmomatosis

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Neurilemmomatosis, Aliases & Descriptions:

Name: Neurilemmomatosis 10 62
Schwannomatosis 10 62
Neurofibromatosis, Type Iii, Mixed Central and Peripheral 62
 
Neurilemmomatosis, Congenital Cutaneous 62
Neurofibromatosis Type 3 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


External Ids:

Disease Ontology10 DOID:3204
NCIt40 C6557
ICD9CM29 237.73
MeSH35 C536641

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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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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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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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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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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Compounds for genes affiliated with Neurilemmomatosis

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GO Terms for genes affiliated with Neurilemmomatosis

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Products for genes affiliated with Neurilemmomatosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Neurilemmomatosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet