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 AlteredExpression disease BEFREE PHDVC5HCHNSD1 is also crucial for NSD1-dependent transcriptional regulation and interacts with the C2HR domain of transcriptional repressor Nizp1 (C2HRNizp1)in vitro To get molecular insights into the mechanisms dictating the patho-physiological relevance of the PHD finger tandem domain, we solved its solution structure and provided a structural rationale for the effects of seven Sotos syndrome point-mutations. 26896805 2016
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease BEFREE Microduplications of 5q35.2-q35.3 including NSD1 have been reported in only five patients so far and described clinically as a reversed Sos resulting from a hypothetical gene dosage effect of NSD1. 23913520 2013
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CTD_human Blast analysis of the Sos genomic region on 5q35 revealed two complex mosaic low-copy repeats (LCRs) that are centromeric and telomeric to NSD1. 15640245 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease BEFREE The proband had microduplication in the chromosomal region containing NSD1, which resulted in a Sotos syndrome reversed phenotype, and this duplication was associated with microcephaly, short stature, and developmental delay. 28128410 2017
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CTD_human The possibility therefore exists that certain NSD1 mutations are expressed and contribute to the phenotypic variability of Sos. 17561922 2007
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CLINGEN Recently, a 2.2-Mb chromosome 5q35 microdeletion, encompassing NSD1, was reported as the major cause of Sotos syndrome, with intragenic NSD1 mutations identified in a minority of cases. 12464997 2003
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CTD_human Most cases of Sotos syndrome are caused by NSD1 gene defects, but the spectrum of mutations is different from that of Japanese patients. 16232326 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CTD_human In 32 patients clinically suspected of Sotos syndrome, we compared auxology parameters between NSD1+/- patients and patients without NSD1 gene alterations (NSD1+/+). 16188863 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CTD_human Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for NSD1 mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome. 18001468 2007
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CTD_human 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 Biomarker disease CLINGEN In analogy, we propose that deregulation of the MAPK/ERK pathway in SoS results in altered hypertrophic differentiation of NSD1 expressing chondrocytes and may be a determining factor in statural overgrowth and accelerated skeletal maturation in SoS. 23155469 2012
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease BEFREE Our case suggests that the gene dosage effect of the NSD1 gene is the likely cause for the reversed phenotype of Sotos syndrome in this patient. 21567906 2011
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease BEFREE In this study, 48 individuals who were suspected as Sotos syndrome but showing no NSD1 abnormalities were examined for NFIX mutations by high-resolution melt analysis. 22301465 2012
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease BEFREE The aim was to investigate which auxology parameters relate to NSD1+/- in patients clinically suspected of Sotos syndrome. 16188863 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CLINGEN 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 Biomarker disease CTD_human Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations causes Sotos syndrome (SoS). 18505455 2008
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CTD_human To gain insight into the biochemical basis of Sotos syndrome, we tested the ability of each NSD1 PHD domain to bind histone H3 when methylated at regulatory sites Lys4, Lys9, Lys27, Lys36, and Lys79, and histone H4 at regulatory Lys20, and determined whether Sotos point mutations disrupted methylation site-specific binding. 21972110 2011
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease BEFREE Blast analysis of the Sos genomic region on 5q35 revealed two complex mosaic low-copy repeats (LCRs) that are centromeric and telomeric to NSD1. 15640245 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease BEFREE The FMR1 gene should be analyzed in patients with tall stature and mental retardation, and in these patients the NSD1 gene can be considered whenever some features of Sotos syndrome do exist. 16192740 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease BEFREE NSD1 aberrations are rather specific for Sotos syndrome, but have also been detected in patients lacking one or more major criteria of the disorder, namely overgrowth, macrocephaly, and advanced bone age. 16010675 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CLINGEN Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. 12525543 2003
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease BEFREE However, despite its causal role in Sotos syndrome and the typical accelerated growth of these patients, little is known about the putative contribution of NSD1 to human sporadic malignancies. 20018718 2009
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease BEFREE Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. 16222665 2005
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CLINGEN The results indicate that haploinsufficiency of NSD1 is the major cause of Sotos syndrome. 11896389 2002
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.700 Biomarker disease CTD_human The results indicate that the great majority of patients with Sotos syndrome are caused by mutations in NSD1. 14571271 2003