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Carbamoylphosphate synthetase deficiency
1 OMIM reference -
1 associated gene
8 connected diseases
7 signs/symptoms
Disease Type of connection
Cornelia de Lange syndrome
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Carnitine palmitoyl transferase 1A deficiency
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
Familial leiomyomatosis
Fumaric aciduria
Synonym(s):
- CPS1 deficiency
- Carbamoyl phosphate synthetase 1 deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CPS1 P31327608307
Very frequent
- Aminoacid metabolism anomalies / aminoaciduria
- Autosomal recessive inheritance
- Hyperammonemia
- Hypotonia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Seizures / epilepsy / absences / spasms / status epilepticus
- Stillbirth / neonatal death