Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated clinical manifestations and mutations of the GNAS gene in ethnic Chinese patients with PHP1A or PPHP.
|
24651309 |
2014 |
Pseudopseudohypoparathyroidism
|
1.000 |
Biomarker
|
disease |
BEFREE |
GNAS1 molecular analysis confirmed the diagnosis of PHP-Ia and PPHP in the mutated patients.
|
12621129 |
2003 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Similar to effects other imprinted genes have on early development, we recently observed severe intrauterine growth retardation in newborns, later diagnosed with pseudopseudohypoparathyroidism (PPHP) because of paternal GNAS loss-of-function mutations.
|
25603460 |
2015 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gsα-coding GNAS mutations that lead to diminished Gsα expression and/or function result in Albright's hereditary osteodystrophy (AHO) with or without hormone resistance, i.e., pseudohypoparathyroidism type-Ia/Ic and pseudo-pseudohypoparathyroidism, respectively.
|
25851935 |
2015 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Both the PHPIa and PPHP forms of AHO result from heterozygous deactivating mutations in the GNAS1 gene associated with a 50% reduction in bioactivity of the Gsalpha protein that it encodes.
|
12541184 |
2002 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
When located on the paternal allele, the same or similar GNAS mutations are the cause of PPHP.
|
27995443 |
2017 |
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.
|
25802881 |
2015 |
Pseudopseudohypoparathyroidism
|
1.000 |
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 |
Pseudopseudohypoparathyroidism
|
1.000 |
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 |
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.
|
9727013 |
1998 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PHP and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations within or upstream of the GNAS locus.
|
24127307 |
2013 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We evaluated 67 patients with AHO (49 with PHP1A, 18 with PPHP) with documented mutations in GNAS.
|
29059381 |
2018 |
Pseudopseudohypoparathyroidism
|
1.000 |
Biomarker
|
disease |
CTD_human |
An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism.
|
9506752 |
1998 |
Pseudopseudohypoparathyroidism
|
1.000 |
Biomarker
|
disease |
MGD |
When inherited paternally, GNAS mutations cause only AHO but not hormonal resistance, termed pseudopseudohypoparathyroidism (PPHP).
|
21747923 |
2011 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PHP-Ia and PPHP are caused by heterozygous inactivating mutations in those exons of GNAS encoding the alpha subunit of the stimulatory guanine nucleotide-binding protein (Gsalpha), and the autosomal dominant form of PHP-Ib (AD-PHP-Ib) is caused by heterozygous mutations disrupting a long-range imprinting control element of GNAS.
|
15711092 |
2005 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous inactivating mutations in the GNAS1 exons (20q13.3) that encode the alpha-subunit of the stimulatory G protein (Gsalpha) are found in patients with pseudohypoparathyroidism type Ia (PHP-Ia) and in patients with pseudo-pseudohypoparathyroidism (pPHP).
|
11294659 |
2001 |
Pseudopseudohypoparathyroidism
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Pseudopseudohypoparathyroidism
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Six PHP-Ia and one PPHP harboured four different heterozygous mutations within the coding region of GNAS, p.Asp189_Tyr190delinsMetfxX14, p.Val117fsX23, p.Tyr190CysfsX19, and a splicing mutation (c.659 + 1G>A), of which the latter two were novel.
|
21521295 |
2011 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Affected members of most AHO kindreds (both those with PPHP and those with PHP Ia) have a partial deficiency of Gs alpha, the alpha-subunit of the G protein that couples receptors to adenylyl cyclase stimulation, and in a number of cases heterozygous loss of function mutations within the Gs alpha gene (GNAS1) have been identified.
|
10487696 |
1999 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Different inactivating mutations of the gene GNAS1 encoding Gsalpha lead to a reduced Gsalpha protein activity in patients with AHO and pseudohypoparathyroidism type Ia or without resistance to PTH (pseudopseudohypoparathyroidism).
|
11600516 |
2001 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited.
|
20427508 |
2010 |
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
|
23533243 |
2013 |
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.
|
11092390 |
2000 |