MCID: DSR013
MIFTS: 15

Disorders of Gnas Inactivation

Aliases & Classifications for Disorders of Gnas Inactivation

MalaCards integrated aliases for Disorders of Gnas Inactivation:

Name: Disorders of Gnas Inactivation 24
Gsα Deficiency 24

Characteristics:

GeneReviews:

24
Penetrance Disorders of gnas inactivation show complete penetrance, with manifestations typically appearing during childhood. however, the exact manifestations and severity vary significantly among individuals.

Summaries for Disorders of Gnas Inactivation

MalaCards based summary : Disorders of Gnas Inactivation, also known as gsα deficiency, is related to hypothyroidism, congenital, nongoitrous, 1 and pseudopseudohypoparathyroidism. An important gene associated with Disorders of Gnas Inactivation is GNAS (GNAS Complex Locus). Affiliated tissues include hypothalamus, bone and pancreas.

GeneReviews: NBK459117

Related Diseases for Disorders of Gnas Inactivation

Graphical network of the top 20 diseases related to Disorders of Gnas Inactivation:



Diseases related to Disorders of Gnas Inactivation

Symptoms & Phenotypes for Disorders of Gnas Inactivation

Drugs & Therapeutics for Disorders of Gnas Inactivation

Search Clinical Trials , NIH Clinical Center for Disorders of Gnas Inactivation

Genetic Tests for Disorders of Gnas Inactivation

Anatomical Context for Disorders of Gnas Inactivation

MalaCards organs/tissues related to Disorders of Gnas Inactivation:

41
Hypothalamus, Bone, Pancreas, Smooth Muscle

Publications for Disorders of Gnas Inactivation

Articles related to Disorders of Gnas Inactivation:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Gsα deficiency in the dorsomedial hypothalamus underlies obesity associated with Gsα mutations. 38 4
27991864 2017
2
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. 38 4
25802881 2015
3
Pseudohypoparathyroidism: one gene, several syndromes. 4
27995443 2017
4
The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network. 4
27428667 2016
5
Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. 4
27109785 2016
6
Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A. 4
26709970 2016
7
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B). 4
25997889 2015
8
GNAS Spectrum of Disorders. 4
25851935 2015
9
Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms. 4
25594858 2015
10
Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth. 4
25603460 2015
11
Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b. 4
25005734 2015
12
Progressive osseous heteroplasia: diagnosis, treatment, and prognosis. 4
25674011 2015
13
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders. 4
25219572 2015
14
Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a. 4
25925491 2015
15
Autosomal dominant pseudohypoparathyroidism type Ib: a novel inherited deletion ablating STX16 causes loss of imprinting at the A/B DMR. 4
24438374 2014
16
Quantitative analysis of methylation defects and correlation with clinical characteristics in patients with pseudohypoparathyroidism type I and GNAS epigenetic alterations. 4
24423294 2014
17
Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: first Italian series. 4
23796510 2013
18
Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development. 4
23884777 2013
19
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. 4
23281139 2013
20
GNAS -Related Loss-of-Function Disorders and the Role of Imprinting. 4
23548772 2013
21
An update on the clinical and molecular characteristics of pseudohypoparathyroidism. 4
23076042 2012
22
GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification? 4
22674477 2012
23
A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib. 4
22378814 2012
24
Management of Pseudohypoparathyroidism Type 1a during Pregnancy and Labor: A Case Report. 4
22779017 2012
25
A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus. 4
22140064 2012
26
Madelung-like deformity in pseudohypoparathyroidism type 1b. 4
21752878 2011
27
Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy. 4
21525160 2011
28
Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. 4
21062889 2011
29
Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas. 4
22355676 2011
30
Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. 4
20719837 2010
31
Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons. 4
20979189 2010
32
Inherited human diseases of heterotopic bone formation. 4
20703219 2010
33
Bone mineral density in pseudohypoparathyroidism type 1a. 4
20610593 2010
34
Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis. 4
20444925 2010
35
Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B. 4
20008020 2010
36
Pseudohypoparathyroidism type 1A and morbid obesity in infancy. 4
19364695 2009
37
Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. 4
17803690 2008
38
Spinal stenosis with paraparesis in albright hereditary osteodystrophy. Case report and review of the literature. 4
18552518 2008
39
Similar clinical and laboratory findings in patients with symptomatic autosomal dominant and sporadic pseudohypoparathyroidism type Ib despite different epigenetic changes at the GNAS locus. 4
17651445 2007
40
Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycle. 4
17962410 2007
41
A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency. 4
17299070 2007
42
Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity. 4
17164301 2007
43
GH secretion in a cohort of children with pseudohypoparathyroidism type Ia. 4
17392598 2007
44
Albright's hereditary osteodystrophy. 4
16789633 2006
45
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. 4
15915160 2005
46
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. 4
15800843 2005
47
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. 4
15592469 2005
48
Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. 4
15459318 2004
49
Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. 4
15126527 2004
50
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. 4
14561710 2003

Variations for Disorders of Gnas Inactivation

Expression for Disorders of Gnas Inactivation

Search GEO for disease gene expression data for Disorders of Gnas Inactivation.

Pathways for Disorders of Gnas Inactivation

GO Terms for Disorders of Gnas Inactivation

Cellular components related to Disorders of Gnas Inactivation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 8.96 STX16 GNAS
2 trans-Golgi network membrane GO:0032588 8.62 STX16 GNAS

Sources for Disorders of Gnas Inactivation

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