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.
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
Search interest in GNAS-AS1
Potential gene panels for GNAS-AS1 gene
GNAS-AS1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GNAS-AS1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CHD8 TTLL5 QARS LMBR1 TRPV6 ANXA11 ALS2