Pseudopseudohypoparathyroidism
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Pseudopseudohypoparathyroidism
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
GNAS1 mutations were not detected in any of the PPHP only families.
|
9876352 |
1998 |
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 |
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.
|
11092390 |
2000 |
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 |
CausalMutation
|
disease |
CLINVAR |
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
|
23533243 |
2013 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.
|
25464124 |
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 |
Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited.
|
20427508 |
2010 |
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 |
CausalMutation
|
disease |
CLINVAR |
Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.
|
21525160 |
2011 |
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, paternal transmission of GNAS1 mutations leads to the AHO phenotype alone (pseudopseudohypoparathyroidism), while maternal transmission leads to AHO plus resistance to several hormones (e.g., PTH, TSH) that activate G(s) in their target tissues (pseudohypoparathyroidism type IA).
|
11588148 |
2001 |
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
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 |
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 |
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
|
23281139 |
2013 |
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 |