STX16 gene related symptoms and diseases
All the information presented here about the STX16 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to STX16 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 STX16 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 STX16 gene
Here you will find a list of rare diseases related to the STX16. 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 STX16
Potential gene panels for STX16 gene
Hypoparathyroidism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypoparathyroidism Deletion/Duplication Panel that also includes the following genes: STX16 TBCE TBX1 CASR CHD7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panel United States.
Hypoparathyroidism sequencing panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypoparathyroidism sequencing panel that also includes the following genes: STX16 TBCE TBX1 CASR CDH7 FAM111A CYP24A1 AIRE GATA3 GCM2
More info about this panel United States.
Pseudohypoparathyroidism type 1B (sequence analysis of STX16 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the STX16 gene.
More info about this panel Portugal.
Pseudohypoparathyroidism type 1B (deletion/duplication analysis on STX16 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the STX16 gene.
More info about this panel Portugal.
Pseudohypoparathyroidism, type IB Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Pseudohypoparathyroidism, type IB that also includes the following genes: STX16 GNAS
More info about this panel Germany.
Hypoparathyroidism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypoparathyroidism Sequencing Panel with CNV Detection that also includes the following genes: SOX3 STX16 TBCE CASR FAM111A AIRE GATA3 GCM2 GNA11 GNAS
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Single gene testing STX16 Panel
Germany.
By CeGaT GmbH
This panel specifically test the STX16 gene.
More info about this panel Germany.
STX16 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the STX16 gene.
More info about this panel United States.
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