Disease: Schwannomatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Genetic analysis of blood lymphocyte DNA identified a pathogenic variant in SMARCB1 confirming a diagnosis of schwannomatosis. 31240424 2019
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE Effectively, LZTR1 is mapped on 22q11.2 and centromeric to SMARCB1 also implicated in the determinism of schwannomatosis and NF2, responsible for neurofibromatosis type 2. 31128261 2019
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE The structural and functional abnormalities of proteins caused by the mutations of the SMARCB1 gene may be the molecular basis for the pathogenesis of schwannomatosis in this family. 30576819 2019
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants. 31425178 2019
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Whereas NF2 is caused by mutations of the NF2 gene, schwannomatosis is associated with germline mutations of SMARCB1 or LZTR1. 30006736 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE SMARCB1 or LZTR1 variants were identified in 5/40 (12.5%) and 13/40 (∼32%) patients in the schwannomatosis cohort. 29409008 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE However, more recently, inherited SWI/SNF-deficiency has been linked to several benign syndromic tumors including a subset of familial schwannomatosis (linked to SMARCB1) and multiple meningiomas (linked to SMARCE1) as well as others. 29397238 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE The proportion of cases caused by <i>de novo</i> pathogenic variants is approximately 30% for <i>LZTR1-</i>related schwannomatosis and 10% for <i>SMARCB1-</i>related schwannomatosis.Penetrance is less than 100%. 31329710 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Constitutional mutations of SMARCB1 are responsible of schwannomatosis, an inherited tumor predisposition syndrome, characterized by the development of multiple schwannomas. 29230670 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE It is known that germline SMARCB1 mutations may cause rhabdoid tumor predisposition syndrome (RTPS1) or schwannomatosis. 29779243 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Schwannomatosis has been linked to germline mutations in the SMARCB1 and LZTR1 genes, and is frequently associated with pain.In a cohort study, we assessed the mutation status of 37 patients with clinically diagnosed schwannomatosis and compared to clinical data, whole body MRI (WBMRI), visual analog pain scale, and Short Form 36 (SF-36) bodily pain subscale.We identified a germline mutation in LZTR1 in 5 patients (13.5%) and SMARCB1 in 15 patients (40.5%), but found no germline mutation in 17 patients (45.9%). 29384852 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE Five had previously unidentified gMAVs: three in TP53 (only one fulfilled Chompret's Revised criteria for Li-Fraumeni Syndrome), one in SMARCB1 in the absence of schwannomatosis features and one a TP53 variant at low allele frequency suggesting an acquired event in blood. 30092803 2018
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours. 27921248 2017
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 AlteredExpression disease BEFREE The present data suggests that (a) mosaic loss of immunohistochemical INI1/SMARCB1 expression, despite the interlesional variability, is a reliable marker of schwannomatosis regardless of the involved gene and it might help in the differential diagnosis of schwannomatosis vs. solitary schwannomas and (b) INI1/SMARCB1 expression is not useful in the differential with mosaic NF2, since NF2-associated peripheral schwannomas show the same immunohistochemical pattern. 28365909 2017
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE We conclude that a germline SMARCB1 mutation may predispose to the development of pRCC1, thereby further widening the spectrum of tumors that can develop in the context of schwannomatosis. 26799435 2016
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE An unusual case of schwannomatosis with bilateral maxillary sinus schwannomas and a novel SMARCB1 gene mutation. 26431068 2016
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE This is the first report of a patient with a constitutional missense mutation of SMARCB1 resulting in CSS and subsequent development of schwannomatosis. 26364901 2015
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE In conclusion, our findings enlarged the spectrum of SMARCB1-predisposing tumors and demonstrated, for the first time, the association of a malignant smooth muscle tumor to schwannomatosis. 26001331 2015
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE This is the first report of familial schwannomatosis associated with a germline mutation of SMARCB1 in an Asian country. 25631985 2015
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE We used exome sequencing, Sanger sequencing, and copy number analysis to screen 65 unrelated individuals with schwannomatosis who were negative for a germline NF2 or SMARCB1 mutation. 25480913 2015
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE The INI1/hSNF5/SMARCB1 subunit is mutated in both malignant rhabdoid tumor, a highly aggressive childhood cancer, and schwannomatosis, a tumor-predisposing syndrome characterized by mostly benign tumors of the CNS. 26073604 2015
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 GeneticVariation disease BEFREE Our findings identify LZTR1 as a gene predisposing to an autosomal dominant inherited disorder of multiple schwannomas in ∼80% of 22q-related schwannomatosis cases lacking mutation in SMARCB1. 24362817 2014
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 AlteredExpression disease BEFREE Herein, we characterize the genome of a schwannomatosis family without constitutional inactivation of the SMARCB1 gene to explore novel genomic alterations predisposing individuals to the familial disease. 24763291 2014
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease BEFREE Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors. 24740647 2014
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		0.800 Biomarker disease CTD_human Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. 24362817 2014