schwannomatosis

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Information
Disease name
schwannomatosis
Disease ID
DOID:3204
Description
"A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors." [url:https\://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html, url:https\://pubmed.ncbi.nlm.nih.gov/35674741/]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
SMARCB1 22 23,786,963 23,834,505 10
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT04163419 Active, not recruiting Phase 2 Phase 2 Study of Tanezumab in Subjects With Moderate to Severe Pain Due to Schwannomatosis April 30, 2020 September 30, 2024
NCT02298270 Completed N/A Resiliency Training for Patients With Neurofibromatosis Via Videoconferencing With Skype March 2014 July 2015
NCT01885767 Recruiting Neurofibromatosis (NF) Registry Portal June 2012 June 2050
NCT05684692 Recruiting Phase 2 Screening Trial for Pain Relief in Schwannomatosis (STARFISH) August 31, 2023 November 30, 2027
NCT03406208 Unknown status N/A Resiliency Training for Adults With Neurofibromatosis Via Live Videoconferencing October 1, 2017 January 30, 2022
Disase is a (Disease Ontology)
DOID:0080690
Cross Reference ID (Disease Ontology)
ICD10CM:Q85.03
Cross Reference ID (Disease Ontology)
ICD9CM:237.73
Cross Reference ID (Disease Ontology)
ICDO:9560/1
Cross Reference ID (Disease Ontology)
MESH:C536641
Cross Reference ID (Disease Ontology)
MIM:PS162091
Cross Reference ID (Disease Ontology)
NCI:C6557
Cross Reference ID (Disease Ontology)
ORDO:93921
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:781641005
Cross Reference ID (Disease Ontology)
UMLS_CUI:C1335929
Exact Synonym (Disease Ontology)
neurilemmomatosis
Exact Synonym (Disease Ontology)
neurinomatosis
Exact Synonym (Disease Ontology)
SWN
OMIM Phenotype Series Number (OMIM)
PS162091