GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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