PDK3 - Gene browser | 3billion

PDK3

PDK3

pyruvate dehydrogenase kinase 3

HCNC Approved Symbol: PDK3 (HGNC:8811)
Genomic Coordinates: 23:24,465,286 - 24,550,466 (Xp22.11)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the PDK3 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Distal muscle weakness: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Polyneuropathy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Sensory neuropathy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

PDK3 - Gene browser | 3billion