CTSA - Gene browser | 3billion

CTSA

CTSA

cathepsin A

HCNC Approved Symbol: CTSA (HGNC:9251)
Genomic Coordinates: 20:45,891,335 - 45,898,820 (20q13.12)
Synonyms: GSL, PPGB
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the CTSA gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Hydrops fetalis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypoplastic nails: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Inverted nipples: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

CTSA - Gene browser | 3billion