Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 that encodes the alpha subunit of the stimulatory G protein (Gsα) cause inactivating parathyroid hormone (PTH)/PTHrP signalling disorder type 2 (iPPSD2 or PHP type 1A), which is characterized by Albright hereditary osteodystrophy and resistance to multiple hormones that act through the Gsα signalling pathway (including PTH, thyroid-stimulating hormone, and α-melanocyte-stimulating hormone).
|
31696922 |
2019 |
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
An AHO-like phenotype was associated with the loss of genetic information stored in chromosome 2q37, making this genomic region an interesting object of study as it could contain modifier genes involved in the development of AHO features in patients with GNAS imprinting defects.
|
30616679 |
2019 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We evaluated 67 patients with AHO (49 with PHP1A, 18 with PPHP) with documented mutations in GNAS.
|
29059381 |
2018 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in Gsα-coding GNAS exons are responsible for Albright's hereditary osteodystrophy (AHO), which refers to a constellation of physical and developmental disorders including obesity, short stature, brachydactyly, cognitive impairment, and heterotopic ossification.
|
28889026 |
2018 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In light of the above, we have developed an algorithm to aid in genetic testing of patients with clinical features of AHO but with no causative molecular defect at the GNAS locus.
|
29499646 |
2018 |
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
MGD |
Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.
|
26671181 |
2016 |
Albright's hereditary osteodystrophy
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Microdeletions that alter GNAS methylation and, thereby, diminish Gsα expression in tissues in which the paternal Gsα allele is normally silenced also cause hormone resistance, which occurs typically in the absence of AHO, a disorder termed pseudohypoparathyroidism type-Ib.
|
25851935 |
2015 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the GNAS gene in a male with typical AHO and elevated PTH levels.
|
25502941 |
2015 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although GNAS-based mutations have been postulated to account for overlapping features of AHO and POH, normal DNA studies in certain patients with POH/AHO suggest that there may exist other molecular/epigenetic mechanisms explaining their overlapping features.
|
25894639 |
2015 |
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Epigenetic changes in GNAS have also been reported in patients who display mild Albright's hereditary osteodystrophy or mild thyroid-stimulating hormone (TSH) resistance without mutation of GNAS.
|
25802348 |
2015 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This report adds to rare publications describing constitutional aberrations of chromosome 20q, and adds further evidence to the fact that deletion of the GNAS complex may not always be associated with an Albright's hereditary osteodystrophy phenotype as described previously.
|
25761574 |
2015 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function GNAS mutations lead to hormone resistance and Albright's hereditary osteodystrophy (AHO) when maternally inherited, i.e. pseudohypoparathyroidism-Ia (PHPIa), but cause AHO alone when located on the paternal allele, i.e. pseudoPHP (PPHP).
|
25464124 |
2015 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical evaluation initially suggested the diagnosis of PHP-Ia [phenotype suggestive of Albright hereditary osteodystrophy (AHO) with parathyroid hormone (PTH) resistance] and PPHP (phenotype resembling AHO, without PTH resistance), but (epi)genetic analysis of the GNAS locus ruled out the suspected diagnosis.
|
24945424 |
2014 |
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
During the last decade, some reports documented the existence of patients with POH showing additional features characteristic of AHO such as short stature and brachydactyly, previously thought to occur only in other GNAS-associated disorders.
|
23796510 |
2013 |
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
This is the first large-scale GNAS CNV study in patients with common AHO features but no CNVs were detected.
|
22277900 |
2012 |
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
The patient displayed no other laboratory or physical abnormalities to suggest other GNAS-associated disorders of cutaneous ossification, including Albright's hereditary osteodystrophy or pseudohypoparathyroidism 1A, although a history of intrauterine growth restriction was troubling for progressive osseous heteroplasia.
|
22612068 |
2012 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pseudopseudohypoparathyroidism (PPHP) patients with an AHO phenotype and no hormone resistance and progressive osseous heteroplasia (POH) cases have inactivating paternally inherited GNAS mutations.
|
22679513 |
2012 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified a GNAS mutation in a patient with a severe form of Albright hereditary osteodystrophy and pseudohypoparathyroidism type 1a with phocomelia and performed PGD on embryos derived by in vitro fertilization in order to deliver an unaffected infant.
|
21550946 |
2012 |
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Loss-of-function mutations within the gene encoding Gαs, GNAS, are responsible for multiple human diseases, including Albright's Hereditary Osteodystrophy, progressive osseous heteroplasia, and pseudohypoparathyroidism.
|
22730013 |
2012 |
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
MGD |
When inherited paternally, GNAS mutations cause only AHO but not hormonal resistance, termed pseudopseudohypoparathyroidism (PPHP).
|
21747923 |
2011 |
Albright's hereditary osteodystrophy
|
0.800 |
Biomarker
|
disease |
CTD_human |
A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones.
|
21823526 |
2011 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the GNAS gene.
|
20738794 |
2011 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
When inherited paternally, GNAS mutations cause only AHO but not hormonal resistance, termed pseudopseudohypoparathyroidism (PPHP).
|
21747923 |
2011 |
Albright's hereditary osteodystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
A PubMed search was used to identify the available studies (main query terms: pseudohypoparathyroidism; Albright hereditary osteodystrophy; GNAS; GNAS1; progressive osseous heteroplasia).
|
21816789 |
2011 |
Albright's hereditary osteodystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gsα activity and expression, mutation of the GNAS locus, and methylation status were studied in patients with PHP and mild signs of AHO (PHP-Ia: 12; PHP-Ib: 17, of which 8 had some features of AHO).
|
21351142 |
2011 |