GAA - Gene browser

GAA

alpha glucosidase

HCNC Approved Symbol: GAA (HGNC:4065)
Genomic Coordinates: 17:80,101,581 - 80,119,881 (17q25.3)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

36Patients

In total, 36 patients were diagnosed with a variant in the GAA gene.

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

036
Patient count

Hepatomegaly: 8 (22.2%)
Patient Count: 8 (22.2%)
% of total patients presenting each phenotype is shown in parentheses.
8 (22.2%)
Muscle weakness: 7 (19.4%)
Patient Count: 7 (19.4%)
% of total patients presenting each phenotype is shown in parentheses.
7 (19.4%)
Abnormal enzyme concentration or activity: 6 (16.7%)
Patient Count: 6 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (16.7%)
Hypotonia: 6 (16.7%)
Patient Count: 6 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
6 (16.7%)
Failure to thrive: 4 (11.1%)
Patient Count: 4 (11.1%)
% of total patients presenting each phenotype is shown in parentheses.
4 (11.1%)