Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Albright hereditary osteodystrophy (AHO) is characterized by multiple somatic defects secondary to mutations in the GNAS1 gene.
|
12147228 |
2002 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Albright hereditary osteodystrophy (AHO) is a genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly, and sc ossifications.
|
12970262 |
2003 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pseudohypoparathyroidism type Ia (PHP-Ia) is caused by maternally inherited heterozygous mutations in the GNAS exons encoding the alpha-subunit of the stimulatory G protein (Gsalpha).
|
15579741 |
2004 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
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 |
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 |
Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene.
|
21274302 |
2009 |
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 |
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 |
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
|
23281139 |
2013 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pseudohypoparathyroidism type Ia (PHP1A) or type Ib (PHP1B) are caused by heterozygous maternal GNAS mutations suggesting that little or no Gαs is derived in some tissues from the non-mutated paternal GNAS thereby causing hormonal resistance.
|
28694163 |
2017 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
GNAS was expressed equally from each allele in normals and two of five AHO patients. cAMP generation was significantly reduced in nasal respiratory epithelial cells from AHO patients, compared with normal controls (0.4 vs. 0.6, P = 0.0008).
|
17652219 |
2007 |
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 |
A maternally inherited 2015-bp deletion that includes GNAS exon 1 was identified thereby establishing the diagnosis of PHP1A.
|
28711660 |
2017 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy.
|
12656668 |
2003 |
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 |
A novel GNAS1 mutation in a German family with Albright's hereditary osteodystrophy.
|
19856255 |
2010 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.
|
7523385 |
1994 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
|
9328353 |
1997 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.
|
9328353 |
1997 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel mutation in a case of pseudohypoparathyroidism type Ia.
|
27922245 |
2016 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Pseudohypoparathyroidism, Type Ia
|
0.800 |
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 |
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 |