Mental Retardation, X-Linked, With Panhypopituitarism
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
|
15800844 |
2005 |
Mental Retardation, X-Linked, With Panhypopituitarism
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
|
15800844 |
2005 |
Mental Retardation, X-Linked, With Panhypopituitarism
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.
|
8826446 |
1996 |
Mental Retardation, X-Linked, With Panhypopituitarism
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Coordination of individualized diagnosis and therapy of prostatic cancer].
|
6167084 |
1981 |
Mental Retardation, X-Linked, With Panhypopituitarism
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Mental Retardation, X-Linked, With Panhypopituitarism
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
Panhypopituitarism - X-linked
|
0.510 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
|
15800844 |
2005 |
Panhypopituitarism - X-linked
|
0.510 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
|
15800844 |
2005 |
Panhypopituitarism - X-linked
|
0.510 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Coordination of individualized diagnosis and therapy of prostatic cancer].
|
6167084 |
1981 |
Panhypopituitarism - X-linked
|
0.510 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Panhypopituitarism - X-linked
|
0.510 |
Biomarker
|
disease |
CTD_human |
|
|
|
Panhypopituitarism
|
0.460 |
Biomarker
|
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 |
Panhypopituitarism
|
0.460 |
Biomarker
|
disease |
BEFREE |
80 index cases [54 with isolated growth hormone deficiency (IGHD), 26 with combined pituitary hormone deficiency (CPHD)] were screened for molecular defects in GH1 (including LCR-GH1), GHRHR, GHSR, GHRH, PROP1, POU1F1, HESX1, LHX3, LHX4 and SOX3.
|
25557026 |
2015 |
Panhypopituitarism
|
0.460 |
Biomarker
|
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 |
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 |
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 |
Panhypopituitarism
|
0.460 |
GermlineCausalMutation
|
disease |
ORPHANET |
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
|
15800844 |
2005 |
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 |
Panhypopituitarism
|
0.460 |
Biomarker
|
disease |
HPO |
|
|
|
Septo-Optic Dysplasia
|
0.420 |
GermlineCausalMutation
|
disease |
ORPHANET |
New insights into septo-optic dysplasia.
|
24802313 |
2014 |
Septo-Optic Dysplasia
|
0.420 |
GermlineCausalMutation
|
disease |
ORPHANET |
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
|
21396578 |
2011 |
Septo-Optic Dysplasia
|
0.420 |
Biomarker
|
disease |
BEFREE |
However, a number of familial cases have been described and the identification of mutations in key developmental genes including HESX1, SOX2 and SOX3 in patients with SOD and associated phenotypes suggests that a genetic causation is likely in the more common sporadic cases of the condition.
|
18259104 |
2008 |
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 |
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 |