PCCA - Gene browser

PCCA

propionyl-CoA carboxylase subunit alpha

HCNC Approved Symbol: PCCA (HGNC:8653)
Genomic Coordinates: 13:100,089,093 - 100,530,435 (13q32.3)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the PCCA gene.

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

08
Patient count

Hyperammonemia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Metabolic acidosis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Global developmental delay: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Hemiparesis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Intractable seizures: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)