Mutation in the GNAS1 Gene: Causes & Reasons

Possible Causes for Mutation in the GNAS1 Gene

[…] of GNAS1 Gene. [omicsonline.org]

The paradoxical presentation of testotoxicosis in these boys resulted from an identical point mutation in the GNAS1 gene, which caused both a loss and gain of Gsα function [emedicine.medscape.com]

Differentials Type 1 is cause by mutation or impaired imprinting of GNAS1 gene. [moldiag.com]

Pseudohypoparathyroidism Type 1A

Abstract Albright hereditary osteodystrophy (AHO) is characterized by multiple somatic defects secondary to mutations in the GNAS1 gene. [ncbi.nlm.nih.gov]

[…] of GNAS1 Gene. [omicsonline.org]

Record : found Abstract : found Article : not found Activating and inactivating mutations in the human GNAS1 gene. [scienceopen.com]

Pseudohypoparathyroidism

[…] of GNAS1 Gene. [omicsonline.org]

Etiology and Pathophysiology Genetics Heterozygous mutations in the GNAS1 gene, which encodes Gsa (G protein activator of adenylyl cyclase), contribute to PHP type Ia and [unboundmedicine.com]

Only 14 patients had an identified mutation in the GNAS1 gene. [ncbi.nlm.nih.gov]

Pseudopseudohypoparathyroidism

We each have two copies of the GNAS1 gene, one from each parent. People with AHO have a mutation (genetic change) in one GNAS1 gene copy. [cafamily.org.uk]

It is associated with an inactivating mutation in GNAS1 gene encoding the alpha subunit of the G protein, or reduction of the activity or reduction in the concentration of [memim.com]

Progressive Osseous Heteroplasia

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 [ncbi.nlm.nih.gov]

AHO is caused by heterozygous inactivating mutations in the GNAS1 gene that result in decreased expression or function of the alpha subunit of the stimulatory G protein (Gsalpha [ncbi.nlm.nih.gov]

Although the genetic basis of POH is unknown, inactivating mutations of the GNAS1 gene are associated with AHO. [ncbi.nlm.nih.gov]

Mazabraud Syndrome

mutation in the GNAS1 gene. [ncbi.nlm.nih.gov]

The pathology is caused by inactivating mutations of the GNAS1 gene that induce aberrant cell proliferation at different stages of cellular maturation. [jbsr.be]

No genetic testing for mutations in the GNAS1 gene was performed because it was not available nationally. [bmcendocrdisord.biomedcentral.com]

McCune-Albright Syndrome

[…] of the GNAS1 gene. [ncbi.nlm.nih.gov]

Believed to be a somatic mutation disorder Molecular Genetics: Identification of activating mutations in the GNAS1 gene G proteins are involved in signal transduction pathways [en.wikibooks.org]

Genetic Tests: The detection of genetic mutations of GNAS1 gene can be done through genetic tests. [epainassist.com]

Osteitis Fibrosa Disseminata

gnas1 gene. [icd9data.com]

It has material basis in mutations in the GNAS1 gene. ( 6 ) References: GARD:6995 ICD10CM:Q78.1 ICD9CM:756.54 MESH:D005357 MESH:D005359 NCI2004_11_17:C34609 NCI:C34610 OMIM [zfin.org]

The activating mutations render the GNAS1 gene functionally constitutive, turning the gene irreversibly on, so it is constantly active. [rxlist.com]

Polyostotic Fibrous Dysplasia

gnas1 gene. [icd9data.com]

Causes McCune-Albright syndrome is caused by a mutation in a gene called GNAS1. [rarediseases.org]

[…] in the gnas1 gene. [icd10data.com]

Pseudohypoparathyroidism Type 2

[…] of GNAS1 Gene. [omicsonline.org]

Analysis of mutations in the GNAS1 gene is available, although not widely used. [clinicaladvisor.com]

Forbes-Albright Syndrome

The activating mutations render the GNAS1 gene functionally constitutive, turning the gene irreversibly on, so it is constantly active. [medicinenet.com]

Causes of McCune-Albright syndrome McCune-Albright syndrome is caused by a mutation in the gene called GNAS1. [betterhealth.vic.gov.au]

A mutation of the GNAS1 gene causes McCune-Albright syndrome. The GNAS1 gene makes proteins that regulate hormone activity. [my.clevelandclinic.org]

Fibrous Dysplasia

gnas1 gene. [icd9data.com]

Causes of fibrous dysplasia Fibrous dysplasia is caused by a mutation in the gene called GNAS1. The mutation causes the GNAS1 gene to become more active than normal. [betterhealth.vic.gov.au]

Etiology Fibrous dysplasia is caused by a postzygotic somatic mutation of the GNAS1 gene. [oap-journals.org]

Hypertrophy of the Adrenal Cortex

Cushing’s syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of the GNAS1 gene. [link.springer.com]

GNAS Inactivation Disorder

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med. 2002;346:99–106. [ncbi.nlm.nih.gov]

Cushing’s syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of the GNAS1 gene. [link.springer.com]

Sagliker Syndrome

[…] on the GNAS1 gene exons 1, 4, 10, 4. [elsevier.es]

We conducted screening for mutations in all the 13 exons of GNAS1 gene, all 3 exons of FGF23, and all 18 exons in FGFR3 genes in 23 patients. [jrnjournal.org]

Moreover, it is shown that missense mutations on the GNAS1 gene play an important role in SS pathogenesis (8). [ncbi.nlm.nih.gov]

Familial Hypersecretion of Adrenal Androgens

Cushing’s syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of the GNAS1 gene. [link.springer.com]

Cortisone Reductase Deficiency

Cushing’s syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of the GNAS1 gene. [link.springer.com]

Panostotic Fibrous Dysplasia

A mutation in the GNAS1 gene has been detected,1 producing alterations in osteoplastic maturation and abnormal fibrous tissue deposit.2 There are two variants: monostotic [reumatologiaclinica.org]

Lichtenstein Syndrome

Pathophysiology Caused by sporadic mutation of the GNAS1 gene that encodes the alpha subunit of the stimulatory G protein (G1 medullary bone is replaced by fibrous tissue, [accesspediatrics.mhmedical.com]

Caused by sporadic mutation of the GNAS1 gene that encodes the alpha subunit of the stimulatory G protein (G1 medullary bone is replaced by fibrous tissue, which appears radiolucent [accessanesthesiology.mhmedical.com]

Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non–McCune–Albright fibrous dysplasia of bone. [dovemed.com]

Cushing Syndrome due to Macronodular Adrenal Hyperplasia

This condition occurs due to somatic mutations in the GNAS1 gene. [austinpublishinggroup.com]

Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. [ghr.nlm.nih.gov]

Combined Oxidative Phosphorylation Defect Type 13

Cushing’s syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of the GNAS1 gene. [link.springer.com]

ACTH-Independent Cushing Syndrome

This condition occurs due to somatic mutations in the GNAS1 gene. [austinpublishinggroup.com]

Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. [ekjm.org]

Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J. Clin. Endocrinol. [nature.com]

Craniofacial Dysplasia

Both monostotic fibrous dysplasia and McCune-Albright syndrome are sporadically occurring disorders in which a mutation in the GNAS1 gene occurs postzygotically in a somatic [scienceopen.com]

Molecular/Genetics Fibrous dysplasia is caused by a somatic mutation in the GNAS1 gene located on chromosome 20q13.2-13.3, which encodes the alpha subunit of the stimulatory [emedicine.medscape.com]

[…] of the GNAS1 gene on chromosome 20. [eyewiki.aao.org]

Pseudohypoparathyroidism Type 1B

[…] of GNAS1 Gene. [omicsonline.org]

Aldred MA, Trembath RC (2000) Activating and Inactivating Mutations in the Human GNAS1 Gene. Hum Mut 16: 183-189. [omicsonline.org]

Hamamy Syndrome

Researchers believe that the disorder is caused by a mutation in a gene called GNAS1. [rarediseases.org]

The exact etiopathogenesis of the syndrome is unclear, because no activating mutations of the GNAS1 gene have been demonstrated in this clinical variant. [emedicine.medscape.com]

In FD, a gain-of-function mutation in the GNAS1 gene results in the overproduction of this G-protein. [rarediseases.org]

Pashayan Syndrome

An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma. [eamas.net]

Searching for Arg201 mutations in the GNAS1 gene in Italian patients with McCune-Albright syndrome. de Sanctis L, Romagnolo D, Greggio N, Genitori L, Lala R, de Sanctis C. [eamas.net]

GNAS1 Patologia anomalie nella formazione dell’osso della BFD in MAS ruolo della IL 6 nella BFD N Engl J Med. 1991 Dec 12; 325(24): 1688-95. [eamas.net]

Primary Pigmented Nodular Adrenocortical Disease 1

This condition occurs due to somatic mutations in the GNAS1 gene. [austinpublishinggroup.com]

Cushing’s syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of the GNAS1 gene. [link.springer.com]

Fragoso MC et al. (2003) Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. [nature.com]

Ovarian Hyperfunction

PMID 14891326 An R201H activating mutation of the GNAS1 (Gsalpha) gene in a corticotroph pituitary adenoma. [atlasgeneticsoncology.org]

The exact etiopathogenesis of the syndrome is unclear, because no activating mutations of the GNAS1 gene have been demonstrated in this clinical variant. [emedicine.medscape.com]

PMID 6427261 Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. [atlasgeneticsoncology.org]

Adrenocortical Hyperplasia

[…] of GNAS1 Gene MCBV Fragoso, S Domenice, AC Latronico, RM Martin, MAA Pereira, ... [scholar.google.co.in]

Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. [ghr.nlm.nih.gov]

Endocrinology & Metabolism 93 (9), 3524-3531, 2008 148 2008 Cushing’s Syndrome Secondary to Adrenocorticotropin-Independent Macronodular Adrenocortical Hyperplasia due to Activating Mutations [scholar.google.co.in]