PDE3A gene related symptoms and diseases
All the information presented here about the PDE3A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PDE3A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Hypertension | Very Common - Between 80% and 100% cases |
| Brachydactyly | Very Common - Between 80% and 100% cases |
| Retinopathy | Very Common - Between 80% and 100% cases |
| Stroke | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PDE3A gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Short metacarpal
- Short phalanx of finger
- Cone-shaped epiphysis
- Proportionate short stature
- Hypertensive retinopathy
Rare diseases associated to PDE3A gene
Here you will find a list of rare diseases related to the PDE3A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME
Alternate names
BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME Is also known as bilginturan syndrome, brachydactyly type e, with short stature and hypertension, brachydactyly with hypertension, brachydactyly, type e, with short stature and hypertension, bilginturan brachydactyly
Description
Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.
Most common symptoms of BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME
- Short stature
- Hypertension
- Brachydactyly
- Retinopathy
- Stroke
More info about BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME
Search interest in PDE3A
Potential gene panels for PDE3A gene
Hypertension and Brachydactyly Syndrome via PDE3A Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PDE3A gene.
More info about this panel United States.
Hypertension Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hypertension that also includes the following genes: SCNN1A SCNN1G SDHA SDHB SDHC SDHD WNK1 WNK4 CUL3 CYP17A1
More info about this panel Germany.
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.
PDE3A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PDE3A gene.
More info about this panel United States.
Hypertension and Brachydactyly Syndrome , Sequencing PDE3A Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PDE3A gene.
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COL4A1 IKBKG MIPEP KCNB1 ADCY5 ABCD3 GRIN2B