|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
|
25219572 |
2015 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the GNAS gene in a male with typical AHO and elevated PTH levels.
|
25502941 |
2015 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
|
23533243 |
2013 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
|
23281139 |
2013 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We collected birth parameters (ie, gestational age, weight, length, and head circumference) of patients with either PHP-Ia (n = 29) or PPHP/POH (n = 26) with verified GNAS mutations.
|
23884777 |
2013 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in Gsα-coding GNAS exons cause PHP-Ia and, in some cases, PHP-Ic, while mutations that disrupt the imprinting of GNAS lead to PHP-Ib.
|
23392091 |
2013 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a new GNAS mutation causing PHP Ia and an atypical early-onset primary hypothyroidism.
|
23412865 |
2013 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pseudohypoparathyroidism-Ia and -Ib (PHP-Ia and -Ib) are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS cluster, respectively.
|
22674477 |
2012 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
Biomarker
|
disease |
BEFREE |
This classification of PHP was made years ago but was recently questioned since different studies showed GNAS epigenetic defects in PHP-Ia patients.
|
22300135 |
2012 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the GNAS gene.
|
20738794 |
2011 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Pseudohypoparathyroidism type Ia (PHPIa) is caused by GNAS mutations leading to deficiency of the α-subunit of stimulatory G proteins (Gsα) that mediate signal transduction of G protein-coupled receptors via cAMP.
|
21488135 |
2011 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
When inherited paternally, GNAS mutations cause only AHO but not hormonal resistance, termed pseudopseudohypoparathyroidism (PPHP).
|
21747923 |
2011 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.
|
21525160 |
2011 |
|
Pseudohypoparathyroidism, Type Ia
|
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 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pseudohypoparathyroidism type Ia (PHPIa) is caused by GNAS mutations leading to deficiency of the α-subunit of stimulatory G proteins (Gsα) that mediate signal transduction of G protein-coupled receptors via cAMP.
|
21488135 |
2011 |
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations affecting G(s)alpha coding exons of GNAS and epigenetic alterations in the same gene are associated with PHP-Ia and -Ib, respectively.
|
20008020 |
2010 |