CPS1 gene related symptoms and diseases
All the information presented here about the CPS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CPS1 gene
Symptoms // Phenotype | % Cases |
---|---|
Cryptorchidism | Uncommon - Between 30% and 50% cases |
Muscular hypotonia | Uncommon - Between 30% and 50% cases |
Irritability | Uncommon - Between 30% and 50% cases |
Abdominal pain | Uncommon - Between 30% and 50% cases |
Encephalopathy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CPS1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Vomiting
- Respiratory insufficiency
- Pain
- Muscle weakness
- Lethargy
- Failure to thrive
- Ataxia
- Global developmental delay
And 64 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CPS1 gene
Here you will find a list of rare diseases related to the CPS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA
Alternate names
CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA Is also known as alveolar capillary dysplasia with misalignment of pulmonary vessels, acdmpv, alveolar capillary dysplasia with misalignment of pulmonary veins, alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies
Description
Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.
Most common symptoms of CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA
- Cryptorchidism
- Hypertension
- Ventricular septal defect
- Respiratory distress
- Atrial septal defect
More info about CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA
CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY
Alternate names
CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY Is also known as carbamoyl phosphate synthetase i deficiency, carbamoyl-phosphate synthetase deficiency, cps i deficiency, carbamoyl-phosphate synthetase i deficiency, cps1 deficiency, cps1d
Description
Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
Most common symptoms of CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Ataxia
- Failure to thrive
More info about CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY
Search interest in CPS1
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SLC6A5 CHD7 KIF5A DISC2 GNE GPAA1 KDM1A