ATP7A - Gene browser

ATP7A

ATPase copper transporting alpha

HCNC Approved Symbol: ATP7A (HGNC:869)
Genomic Coordinates: 23:77,910,693 - 78,050,395 (Xq21.1)
Synonyms: MNK
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

12Patients

In total, 12 patients were diagnosed with a variant in the ATP7A gene.

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

012
Patient count

Global developmental delay: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Failure to thrive: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Copper deficiency: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Kinky hair texture: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)
Short stature: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)