|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
|
Panhypopituitarism
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Early diagnosis of panhypopituitarism due to PROP1 mutation is essential for successful treatment; however, our case report shows that carefully titrated GH treatment and sex hormone substitution, although initiated in adulthood, enable restoration of physiological growth and sexual development in a hormonally infantile adult woman with a PROP1 mutation.
|
29180983 |
2017 |
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
These data show that PROP1 mutations can result in panhypopituitarism, the most severe form of AP deficiency, in which the production of all hormones is compromised and support a role for PROP1 in the maintenance and/or differentiation of all five hormone-secreting cell types.
|
11134108 |
2000 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Direct DNA sequencing of all coding exons of the pituitary transcription factor 1 (PIT1) and prophet of PIT1 (PROP1) genes failed to detect disease-causing mutations, suggesting that these genes were not involved in the development of CPHD in our patient.
|
18296909 |
2008 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
IGHD may result from mutations in GH1 and GHRHR while CPHD is associated with defects in transcription factor genes PROP1, POU1F1 and HESX1.
|
27114065 |
2016 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Waxing and waning of a pituitary mass in a young woman with combined pituitary hormone deficiency (CPHD) due to a PROP-1 mutation.
|
16703408 |
2006 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrate a novel type of Prop-1 gene mutation as one of the causes of CPHD in Russian patients.
|
11081182 |
1998 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Combined pituitary hormone deficiency and PROP-1 mutation in two siblings: a distinct MR imaging pattern of pituitary enlargement.
|
17698542 |
2007 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Prophet of Pit-1 (PROP-1), one of the pituitary specific homeodomain transcription factors, is involved in the differentiation of the anterior pituitary cells (somatotrophs, lactotrophs, thyrotrophs, and gonadotrophs), and PROP-1 gene mutations may interfere with the development of these cells, resulting in CPHD.
|
12519826 |
2003 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene.
|
11022176 |
2000 |
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
The prophet of Pit-1 gene (PROP1), a novel pituitary-specific homeodomain factor, has been proved to be one of the causative genes for combined pituitary hormone deficiency (CPHD).
|
10549300 |
1999 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.
|
28356564 |
2017 |
|
Panhypopituitarism
|
0.500 |
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
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.
|
26608600 |
2016 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PROP1 and POU1F: Recessive mutations within the pituitary-specific transcription factor Prophet of Pit1, or PROP1, are associated with CPHD (GH, prolactin [PRL] and TSH deficiency with additional LH and FSH deficiency).
|
18174732 |
2007 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report the largest genomic deletion including PROP1 gene associated with CPHD.
|
20395664 |
2010 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We screened a cohort of sporadic (n = 189) and familial (n = 44) patients with hypopituitarism (153 CPHD and 80 isolated hormone deficiencies) for mutations within the coding sequence of PROP1.
|
15963055 |
2005 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pit-1 gene and Prop-1 gene mutations and deletions have been reported being responsible for CPHD.
|
15192287 |
2004 |
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results identify a major cause of CPHD in humans and suggest a direct or indirect role for PROP1 in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.
|
9462743 |
1998 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of a mutation in the initiation codon of the PROP1 gene and this further expands the spectrum of known mutations responsible for CPHD.
|
16984240 |
2006 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the PIT-1 and PROP-1 transcription factors are responsible for CPHD in some patients with normally positioned posterior pituitaries.
|
10946868 |
2000 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.
|
26059845 |
2016 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In familial cases of combined pituitary hormone deficiency the most common mutations are that of Prophet of Pit 1 (PROP1) gene.
|
21863341 |
2011 |