HMGCL - Gene browser

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase

HCNC Approved Symbol: HMGCL (HGNC:5005)
Genomic Coordinates: 1:23,801,885 - 23,825,429 (1p36.11)
Synonyms: HL, HMGCL1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

10Patients

In total, 10 patients were diagnosed with a variant in the HMGCL gene.

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

010
Patient count

3-methylglutaric aciduria: 4 (40.0%)
Patient Count: 4 (40.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (40.0%)
3-methylglutaricaciduria: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Hyperammonemia: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Hypoketotic hypoglycemia: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)
Reye syndrome-like episodes: 3 (30.0%)
Patient Count: 3 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (30.0%)