SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Hirschsprung Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 PosttranslationalModification disease BEFREE The blood level of Sox10 promoter methylation at the 32nd locus was 100% (90%-100%; 95% confidence interval [CI], 92.29%-96.37%) in control, 90% (80%-90%; 95% CI, 82.84%-87.83%) in HD, and 60% (50%-80%; 95% CI, 57.12%-69.76%) in IND specimens. 31789936 2019
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE We suggest that hypoganglionosis can be a variant intestinal manifestation associated with PCWH and that hypoganglionosis and aganglionosis may share the same pathoetiological mechanism mediated by SOX10 mutations. 29681101 2018
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE It has been postulated that PCWH as a combination of Waardenburg and Hirschsprung disease, peripheral neuropathy and central leukodystrophy is caused by heterozygous SOX10 mutations that result in the presence of a dominantly acting mutant SOX10 protein in the patient. 29361054 2018
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). 28328136 2017
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, and Hirschsprung disease. 28544110 2017
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE We previously identified an intronic enhancer variant in the RET gene disrupting SOX10 binding and increasing Hirschsprung disease (HSCR) risk 4-fold. 27693352 2016
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE As dominant mutations in mouse or human SOX10 cause white spotting and intestinal aganglionosis, we screened the Sox10 coding region for mutations in gt/gt DNA. 25399070 2015
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE Mutations in SOX10 were first associated with Waardenburg-Hirschsprung disease (WS4; deafness, pigmentation defects and intestinal aganglionosis). 26060192 2015
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 AlteredExpression disease BEFREE We identified 3 mutations in GLI in 5 patients with Hirschsprung disease but no controls; all lead to increased transcription of SOX10 in cell lines. 26261006 2015
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE Molecular analysis detected a de novo p.Leu145Pro mutation in SOX10, which has previously been reported in a patient with WS and Hirschsprung disease. 26228106 2015
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE SOX10 mutations have been found in patients with type II and type IV WS (i.e., with Hirschsprung disease), more complex syndromes, and partial forms of the disease. 24845202 2014
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE An impairment of long distance SOX10 regulatory elements underlies isolated Hirschsprung disease. 24357527 2014
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE Impairments of endothelin receptor B (EDNRB) and SOX10 have been shown to cause a significantly increased risk of dominant sensorineural deafness in Hirschsprung disease (HSCR) patients. 22295143 2012
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained WS2 cases. 22848661 2012
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE In this study we describe a case of a term infant with the neurological variant of Waardenburg syndrome type 4 (i.e., PCWH = peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease, as defined in OMIM #609136) due to a novel heterozygous base exchange (c.671C>G) in exon 4 of SOX10. 22246888 2012
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE We describe a male infant with a novel SOX10 mutation and a severe course of PCWH--a special phenotype of Shah-Waardenburg syndrome involving peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung's disease. 21822601 2011
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE Association analysis of the SOX10 polymorphism with Hirschsprung disease in the Han Chinese population. 22008330 2011
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE Developmental processes were investigated in congenic Sox10(Dom) mice, an established Hirschsprung disease (HSCR) model, on distinct inbred backgrounds, C57BL/6J (B6) and C3HeB/FeJ (C3Fe). 20739296 2010
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE This is the first time that a SOX10 mutation is detected in an isolated HSCR patient, which completely changes the scenario for the implications of SOX10 mutations in human disease, giving us a new tool for genetic counseling. 20130826 2010
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE The involvement of SOX10 and ZFHX1B in Waardenburg-Hirschsprung disease (hypopigmentation, deafness, and absence of enteric ganglia) and Mowat-Wilson syndrome (mental retardation, facial dysmorphy and variable congenital malformations including Hirschsprung disease) respectively, highlighted the importance of both transcription factors during enteric nervous system (ENS) development. 20206619 2010
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE In sum, Phox2b and Sox10 act together with Nkx2.1 to modify RET signaling and this interaction may also contribute to HSCR susceptibility. 19853745 2009
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. 18348267 2008
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease LHGDN A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. 18348267 2008
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease BEFREE These results suggest that the enteric nervous system in patients with SOX10-associated Hirschsprung's disease is entirely subject to neuroglial impairment. 17448776 2007
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease BEFREE Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) is a complex neurocristopathy caused by SOX10 mutations. 17855451 2007