CTNS - Gene browser

CTNS

cystinosin, lysosomal cystine transporter

HCNC Approved Symbol: CTNS (HGNC:2518)
Genomic Coordinates: 17:3,636,459 - 3,663,103 (17p13.2)
Synonyms: CTNS-LSB, PQLC4, SLC66A4
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

16Patients

In total, 16 patients were diagnosed with a variant in the CTNS gene.

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

016
Patient count

Anemia: 5 (31.3%)
Patient Count: 5 (31.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (31.3%)
Polyuria: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Elevated intracellular cystine: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Rickets: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)
Hypothyroidism: 3 (18.8%)
Patient Count: 3 (18.8%)
% of total patients presenting each phenotype is shown in parentheses.
3 (18.8%)