Details of Disease

General Information of Disease (ID: DISDWAM1)

Disease Name Schwannomatosis
Synonyms
neurilemmomatosis congenital cutaneous; congenital cutaneous neurilemmomatosis; neurinoma; neurilemmomatosis, congenital cutaneous; NF3; Schwannomatosis; neurofibromatosis type 3; schwannomatosis; Neurinomatosis; neurilemmomatosis
Definition
The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.
Disease Hierarchy
DIS5N2R6: Neurofibromatosis
DISQ205R: Hyperpigmentation of the skin
DIS7GG31: Developmental defect during embryogenesis
DIS16DDV: Skin neoplasm
DISSCALK: Hereditary skin disorder
DISTTVLA: Schwannoma
DISDWAM1: Schwannomatosis
Disease Identifiers
MONDO ID
MONDO_0008075
MESH ID
C536641
UMLS CUI
C1335929
MedGen ID
234775
Orphanet ID
93921
SNOMED CT ID
781641005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NF2 TTZIK7P Strong Biomarker [1]
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This Disease Is Related to 10 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COQ6 OTZWW1FX Limited Genetic Variation [2]
SMARCB1 OT2LP7LJ Supportive Autosomal dominant [3]
DGCR8 OT62LXE4 Strong Biomarker [4]
ESCO1 OTZ9P12A Strong Biomarker [5]
LZTR1 OTIDM6XO Strong Genetic Variation [6]
MED16 OT8SCI48 Strong Biomarker [2]
NFIA OTDHQ9CG Strong Biomarker [5]
NFIC OTLMCUIB Strong Biomarker [5]
NFIX OT1DPZAE Strong Biomarker [5]
SMARCE1 OTAX4ITH Strong Biomarker [7]
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⏷ Show the Full List of 10 DOT(s)

References

1 Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.Acta Otorhinolaryngol Ital. 2016 Oct;36(5):345-367. doi: 10.14639/0392-100X-1093.
2 A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.Genet Med. 2014 Oct;16(10):787-92. doi: 10.1038/gim.2014.39. Epub 2014 Apr 24.
3 Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am J Hum Genet. 2007 Apr;80(4):805-10. doi: 10.1086/513207. Epub 2007 Feb 16.
4 DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206.
5 CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.Am J Med Genet A. 2014 Mar;164A(3):563-78. doi: 10.1002/ajmg.a.36312. Epub 2014 Jan 17.
6 Oligo-astrocytoma in LZTR1-related Noonan syndrome.Eur J Med Genet. 2020 Jan;63(1):103617. doi: 10.1016/j.ejmg.2019.01.007. Epub 2019 Jan 19.
7 Hereditary SWI/SNF complex deficiency syndromes.Semin Diagn Pathol. 2018 May;35(3):193-198. doi: 10.1053/j.semdp.2018.01.002. Epub 2018 Feb 1.