SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2678223
Disease: Mental Retardation, X-Linked, With Panhypopituitarism
Mental Retardation, X-Linked, With Panhypopituitarism 		0.600 GeneticVariation disease CLINVAR
CUI: C0342376
Disease: Panhypopituitarism - X-linked
Panhypopituitarism - X-linked 		0.510 GeneticVariation disease BEFREE Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). 29175558 2018
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.460 GeneticVariation disease BEFREE Female carriers of SOX3 PA tract deletions will show a broad phenotypic spectrum, ranging from clinically normal to CPHD. 24346842 2014
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.460 GeneticVariation disease BEFREE Next, we identified a novel seven-alanine expansion within a polyalanine tract in SOX3 in a family with panhypopituitarism in three male siblings with an absent infundibulum, severe APH, and EPP. 15800844 2005
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.460 GeneticVariation disease BEFREE As rare abnormalities, we identified a submicroscopic deletion involving FGFR1 and an SOX3 polyalanine deletion in patients with IHH, and a WDR11 splice site mutation in a patient with CPHD. 25064402 2014
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.420 GeneticVariation disease BEFREE More recently, we have implicated duplications of SOX3 and mutations of both SOX2 and SOX3 in the aetiology of variants of SOD. 17587179 2007
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		0.420 GeneticVariation disease LHGDN More recently, we have implicated duplications of SOX3 and mutations of both SOX2 and SOX3 in the aetiology of variants of SOD. 17587179 2007
CUI: C0432475
Disease: XX males
XX males 		0.330 GeneticVariation disease BEFREE Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. 21183788 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Both duplications encompassing SOX3 and loss-of function mutations in SOX3 have been reported in a minor portion of X-linked isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD) patients with or without mental retardation. 24346842 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE In humans, duplication of SOX3 and polyalanine expansions at its C-terminus may cause intellectual disability and hypopituitarism. 23463539 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation. 17627381 2007
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE Both overdosage of SOX3, as a result of gene duplication, and loss of function resulting from expansion of the first polyalanine (PA) tract are associated with variable degrees of hypopituitarism, with or without mental retardation. 21289259 2011
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.200 GeneticVariation group BEFREE All of the patients studied who had both HB and ID had deletion of the SOX3 gene. 27477789 2016
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.170 GeneticVariation disease BEFREE Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). 29175558 2018
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.170 GeneticVariation disease BEFREE Both duplications encompassing SOX3 and loss-of function mutations in SOX3 have been reported in a minor portion of X-linked isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD) patients with or without mental retardation. 24346842 2014
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.170 GeneticVariation disease BEFREE Mutations in the GH1 and GHRHR genes shed light on the phenotype and pathogenesis of IGHD whereas mutations in transcription factors such as HESX1, PROP1, POU1F1, LHX3, LHX4, GLI2 and SOX3 contributed to the understanding of CPHD. 27974184 2016
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.150 GeneticVariation disease BEFREE Mutations in the GH1 and GHRHR genes shed light on the phenotype and pathogenesis of IGHD whereas mutations in transcription factors such as HESX1, PROP1, POU1F1, LHX3, LHX4, GLI2 and SOX3 contributed to the understanding of CPHD. 27974184 2016
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.150 GeneticVariation disease BEFREE Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). 29175558 2018
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.150 GeneticVariation disease BEFREE Both duplications encompassing SOX3 and loss-of function mutations in SOX3 have been reported in a minor portion of X-linked isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD) patients with or without mental retardation. 24346842 2014
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.150 GeneticVariation disease BEFREE In humans, over- and underdosage of SOX3 is associated with X-linked hypopituitarism with variable phenotypes ranging from isolated GH deficiency (GHD) to panhypopituitarism, with or without mental retardation and, in most cases, with reported pituitary imaging, an ectopic/undescended posterior pituitary. 25140394 2014
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.150 GeneticVariation disease BEFREE A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review. 25402377 2015
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.150 GeneticVariation disease BEFREE Both duplications encompassing SOX3 and loss-of function mutations in SOX3 have been reported in a minor portion of X-linked isolated growth hormone deficiency (GHD) or combined pituitary hormone deficiency (CPHD) patients with or without mental retardation. 24346842 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 GeneticVariation disease BEFREE We present a young patient with hemophilia B and developmental delay who had a 2.31-Mb deletion on Xq27 including SOX3, F9, and eight other contiguous genes. 25140394 2014
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.110 GeneticVariation disease BEFREE Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]-box 3) (GenBank accession number NM_005634) at Xq26.3. 12428212 2002
CUI: C0020635
Disease: Hypopituitarism
Hypopituitarism 		0.100 GeneticVariation disease BEFREE Our study provides additional evidence that deletion in PA tracts of SOX3 is associated with hypopituitarism. 24346842 2014