GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Osteoma cutis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE Neonatal osteoma cutis due to a mutation in GNAS. 31215057 2019
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker disease BEFREE Moreover, findings obtained in animal experiments support the assumption that human POH represents such superimposed segmental manifestation of GNAS inactivation disorders. 27058263 2016
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE Genomic study revealed no GNAS mutation.He had POH and PHP Ia. 25894639 2015
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 CausalMutation disease CLINVAR GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders. 25219572 2015
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma. 24517547 2014
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 AlteredExpression disease BEFREE We observed rapid ectopic cartilage and bone induction at the axial and lateral positions in a unilateral distribution corresponding to the injected somites, which suggests that blocking GNAS activity in a targeted population of progenitor cells can lead to mosaic ectopic ossification reminiscent of that seen in POH. 23863715 2013
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 CausalMutation disease CLINVAR Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series. 23796510 2013
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE Here, we report genetic and epigenetic analyses of GNAS locus in 10 patients affected with POH or primary OC, further expanding the spectrum of mutations associated with this rare disease and indicating that, unlike PHP, methylation alterations at the same locus are absent or uncommon in this disorder. 23796510 2013
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		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
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		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
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		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
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker 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
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE Histological analyses revealed intramembranous cutaneous bone formation resembling the findings seen in GNAS gene-based osteoma cutis disorders. 21062265 2011
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE We report a novel GNAS1 mutation in a patient with POH. 20480732 2010
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE Paternal origin of GNAS mutations was clearly demonstrated in eight POH cases including one patient with mutation in exon 1. 20427508 2010
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 AlteredExpression disease BEFREE Here we describe two girls who have different clinical presentations that reflect the variable expression of GNAS-associated disorders of cutaneous ossification. 19900597 2010
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GermlineCausalMutation disease ORPHANET Paternal origin of GNAS mutations was clearly demonstrated in eight POH cases including one patient with mutation in exon 1. 20427508 2010
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE While most individuals with superficial or progressive ossification had mutations in GNAS, there were no specific genotype-phenotype correlations that distinguished the more progressive forms of HO (e.g., POH) from the non-progressive forms (osteoma cutis, AHO, and PHP1a/c). 18553568 2008
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GermlineCausalMutation disease ORPHANET We present an unusual case of a boy with clinical features of both POH and PHP Ia, and a GNAS inactivating mutation. 17321228 2007
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease UNIPROT With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation. 14723729 2004
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation. 14723729 2004
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GermlineCausalMutation disease ORPHANET With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation. 14723729 2004
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 Biomarker disease BEFREE Analysis of DNA from peripheral blood leukocytes showed mutations in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1), confirming the diagnosis of progressive osseous heteroplasia. 12605446 2003
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE Paternally inherited inactivating GNAS1 mutations cause POH. 11784876 2002
CUI: C0334041
Disease: Osteoma cutis
Osteoma cutis 		0.800 GeneticVariation disease BEFREE These findings document severe heterotopic ossification in the absence of AHO features caused by an inactivating GNAS1 mutation and establish the GNAS1 gene as the leading candidate gene for POH. 11092389 2000