PITX2 - Gene browser

PITX2

paired like homeodomain 2

HCNC Approved Symbol: PITX2 (HGNC:9005)
Genomic Coordinates: 4:110,617,423 - 110,642,123 (4q25)
Synonyms: IGDS, RS, Brx1, Otlx2, ARP1, IRID2, IHG2, RIEG, RIEG1, RGS
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the PITX2 gene.

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

04
Patient count

Axenfeld anomaly: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Abnormal heart morphology: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Abnormality of pulmonary circulation: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Ascending aortic dilation: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Ascending tubular aorta aneurysm: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)