Disease: Sotos' syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE MLPA is a robust, inexpensive, simple technique that reliably detects both 5q35 microdeletions and partial NSD1 deletions that together account for approximately 15% of Sotos syndrome. 16140999 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE NSD1 PHD domains bind methylated H3K4 and H3K9 using interactions disrupted by point mutations in human sotos syndrome. 21972110 2011
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. 26690673 2015
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients examined. 14517949 2003
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE We conclude therefore that NSD1 mutations account for most cases of Sotos syndrome and a significant number of Weaver syndrome cases in our series. 12807965 2003
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Twenty-nine participants (21 males, 8 females) clinically suspected of Sotos syndrome (mean age 11y 10mo [SD 10y 11mo], range 1y 10mo-48y 5mo) were divided into an NSD1 mutation group (n=12; 8 males, 4 females) and an NSD1 non-mutation group (n=17; 13 males, 4 females). 16780628 2006
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Blood samples from patients with Sotos syndrome and NSD1-mutant tumours also exhibit hypomethylation of intergenic DNA. 31485078 2019
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Mutations or deletions of the NSD1 gene, mapped to 5q35.2 --> q35.3, has been known to cause Sotos syndrome with cerebral gigantism, macrocephaly, advanced bone age and overgrowth. 16770806 2006
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Clinical features typically associated with Sotos syndrome were not found to be significantly different between individuals with and without NSD1 abnormalities. 16247291 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE In the groups of typical, dubious and atypical Sotos syndrome, 81, 36 and 0% of the patients, respectively, showed NSD1 gene alterations.Four deletions were detected. 15452385 2004
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE We describe a 63-year-old woman with classic features and a pathogenic NSD1 mutation, who we believe to be the oldest reported person with Sotos syndrome. 21834047 2011
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE We report on a 28-year-old Caucasian female with a de novo NSD1 intragenic mutation, c.5841_5848dup: p.Leu1950Serfs*22, who presented with characteristic clinical features of Sotos syndrome. 26738611 2016
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene. 19876911 2009
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Haploinsufficiency of the NSD1 gene owing to either intragenic mutations or microdeletions is known to be the major cause of SoS. 15580547 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations. 15720303 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE The 'NSD1 subtypes' of HNSC and LUSC are highly correlated at the DNA methylation and gene expression levels, featuring ectopic expression of developmental transcription factors and genes that are also hypomethylated in Sotos syndrome, a congenital disorder caused by germline NSD1 mutations. 29213088 2017
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Clinically, Weaver syndrome is closely related to Sotos syndrome, which is frequently caused by mutations in NSD1. 22287508 2012
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE It has been shown that the major cause of SoS is haploinsufficiency of the NSD1 gene at 5q35, because the majority of patients had either a common microdeletion including NSD1 or a truncated type of point mutation in NSD1. 12687502 2003
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Sotos syndrome was suspected INTERVENTIONS:: Molecular genetic analysis for NSD1 gene was carried for the patient. 30461603 2018
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE The results also indicated that Sotos syndrome due to a deletion falls into a contiguous gene syndrome, while Sotos syndrome due to an NSD1 point mutation is a single gene defect, occasionally with an autosomal dominant mode of inheritance. 15539801 2004
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE We observed two first cousins affected by an MPPH-like phenotype with a submicroscopic chromosome 5q35 deletion as a result of an unbalanced der(5)t(5;20)(q35.2;q13.3) translocation, including the NSD1 Sotos syndrome locus. 20503325 2010
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Haploinsufficiency of the human 5q35 region spanning the NSD1 gene results in a rare genomic disorder known as Sotos syndrome (Sotos), with patients displaying a variety of clinical features, including pre- and postnatal overgrowth, intellectual disability, and urinary/renal abnormalities. 22926222 2012
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion. 15455365 2004
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system. 15362962 2004
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 GeneticVariation disease BEFREE Craniofacial and oral features of Sotos syndrome: differences in patients with submicroscopic deletion and mutation of NSD1 gene. 22012791 2011