OTC - Gene browser

OTC

ornithine transcarbamylase

HCNC Approved Symbol: OTC (HGNC:8512)
Genomic Coordinates: 23:38,327,684 - 38,422,928 (Xp11.4)
Synonyms: OTCase, OTCD, OTC1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the OTC gene.

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

012
Patient count

Oroticaciduria: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Hyperammonemia: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Cardiac anomaly: 1 (8.3%)
Patient Count: 1 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (8.3%)
Dysphagia: 1 (8.3%)
Patient Count: 1 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (8.3%)
Muscular weakness: 1 (8.3%)
Patient Count: 1 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (8.3%)