CPS1 - Gene browser

CPS1

carbamoyl-phosphate synthase 1

HCNC Approved Symbol: CPS1 (HGNC:2323)
Genomic Coordinates: 2:210,477,685 - 210,679,107 (2q34)
Synonyms: GATD6
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

9Patients

In total, 9 patients were diagnosed with a variant in the CPS1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

09
Patient count

Cerebral edema: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Hyperammonemia, acute: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Hypotonia: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Metabolic acidosis: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)
Seizures: 3 (33.3%)
Patient Count: 3 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (33.3%)