GNAS-AS1 gene related symptoms and diseases

All the information presented here about the GNAS-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GNAS-AS1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Tetany Very Common - Between 80% and 100% cases
Hypocalcemia Very Common - Between 80% and 100% cases
Conjunctivitis Very Common - Between 80% and 100% cases
Reduced bone mineral density Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GNAS-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Prolonged QT interval
  • Hyperparathyroidism
  • Hyperphosphatemia
  • Calcinosis
  • Elevated circulating parathyroid hormone level
  • Autoimmune antibody positivity
  • Laryngeal dystonia
  • Hypoplasia of dental enamel

And 37 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GNAS-AS1 gene

Here you will find a list of rare diseases related to the GNAS-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PSEUDOHYPOPARATHYROIDISM TYPE 1B


Alternate names

PSEUDOHYPOPARATHYROIDISM TYPE 1B Is also known as php ib

Description

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.

Most common symptoms of PSEUDOHYPOPARATHYROIDISM TYPE 1B

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Cataract


More info about PSEUDOHYPOPARATHYROIDISM TYPE 1B

SOURCES: MESH OMIM ORPHANET


Potential gene panels for GNAS-AS1 gene

GNAS-AS1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GNAS-AS1 gene.

More info about this panel


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