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.

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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

SOURCES: MESH ORPHANET OMIM

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

SOURCES: OMIM ORPHANET MESH




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