Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
|
18407919 |
2008 |
Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
|
10835633 |
2000 |
Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
|
17327381 |
2007 |
Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
|
10835633 |
2000 |
Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
|
18407919 |
2008 |
Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
|
18407919 |
2008 |
Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetic forms of hypopituitarism and their manifestation in the neonatal period.
|
19762173 |
2009 |
Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
Biomarker
|
disease |
BEFREE |
In addition, it also expands the knowledge of LHX3-related CPHD3 phenotype and the allelic spectrum for this gene.
|
28302169 |
2017 |
Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
|
10835633 |
2000 |
Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
In addition, it also expands the knowledge of LHX3-related CPHD3 phenotype and the allelic spectrum for this gene.
|
28302169 |
2017 |
Pituitary Hormone Deficiency, Combined, 3
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
This study therefore extends the phenotypic spectrum associated with LHX3 mutations to encompass variable sensorineural hearing loss and suggests a possible interaction between LHX3 and SOX2 likely to be important for development of both the inner ear and the anterior pituitary in human embryonic development.
|
18407919 |
2008 |
Sensorineural Hearing Loss (disorder)
|
0.430 |
GeneticVariation
|
disease |
LHGDN |
This study therefore extends the phenotypic spectrum associated with LHX3 mutations to encompass variable sensorineural hearing loss and suggests a possible interaction between LHX3 and SOX2 likely to be important for development of both the inner ear and the anterior pituitary in human embryonic development.
|
18407919 |
2008 |
Sensorineural Hearing Loss (disorder)
|
0.430 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This study therefore extends the phenotypic spectrum associated with LHX3 mutations to encompass variable sensorineural hearing loss and suggests a possible interaction between LHX3 and SOX2 likely to be important for development of both the inner ear and the anterior pituitary in human embryonic development.
|
18407919 |
2008 |
Sensorineural Hearing Loss (disorder)
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
LHX3 mutations are associated with growth hormone, prolactin, gonadotropin, and TSH deficiency; abnormal pituitary morphology; and may be accompanied with limited neck rotation and sensorineural hearing loss.
|
21249393 |
2011 |
Sensorineural Hearing Loss (disorder)
|
0.430 |
Biomarker
|
disease |
HPO |
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.430 |
Biomarker
|
disease |
BEFREE |
Considering genotype/phenotype correlation, we suggest that the presence of SNHL and limited neck rotation should be considered in the differential diagnosis of CPHD3 to facilitate molecular diagnosis.
|
28302169 |
2017 |
Atrial Fibrillation
|
0.400 |
Biomarker
|
disease |
CTD_human |
Multi-ethnic genome-wide association study for atrial fibrillation.
|
29892015 |
2018 |
Atrial Fibrillation
|
0.400 |
Biomarker
|
disease |
CTD_human |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |
Atrial Fibrillation
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |
Paroxysmal atrial fibrillation
|
0.300 |
Biomarker
|
disease |
CTD_human |
Multi-ethnic genome-wide association study for atrial fibrillation.
|
29892015 |
2018 |
Paroxysmal atrial fibrillation
|
0.300 |
Biomarker
|
disease |
CTD_human |
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
|
30061737 |
2018 |
Hypopituitarism
|
0.230 |
Biomarker
|
disease |
MGD |
Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo.
|
21149718 |
2011 |
Hypopituitarism
|
0.230 |
GeneticVariation
|
disease |
BEFREE |
We report here functional studies of three allelic variants, including the first heterozygous variant of LHX3 NM_178138.5(LHX3):c.587T>C (p.(Leu196Pro)) that may be responsible for a milder phenotype of hypopituitarism.
|
30262920 |
2019 |
Hypopituitarism
|
0.230 |
GeneticVariation
|
disease |
BEFREE |
Clinical evaluation revealed that all four patients exhibit varying degrees of bilateral sensorineural hearing loss, which has not been previously reported in association with LHX3 mutations, in addition to hypopituitarism including adrenocorticotropic hormone deficiency and an unusual skin and skeletal phenotype in one family.
|
18407919 |
2008 |