pyruvate kinase hyperactivity
MONDO:0007067Mondo
Findings
No curated finding names pyruvate kinase hyperactivity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant phenotype characterized by increase of red blood cell ATP.
Definition from the Mondo Disease Ontology (MONDO:0007067), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PKLRHGNC:9020
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
- A kind of