LDHA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Acute rhabdomyolysis

  BIALLELIC, autosomal or pseudoautosomal

• Glycogen storage disease

  BIALLELIC, autosomal or pseudoautosomal

• Ketotic hypoglycaemia

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Rhabdomyolysis and metabolic muscle disorders

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

• glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

  0.75

• disorder of glycogen metabolism

  0.51

• Glycogen storage disease due to glycogenin deficiency

  0.50

• primary hyperoxaluria

  0.45

• hereditary disease

  0.19

• neoplasm

  0.12

• breast cancer

  0.12

• breast carcinoma

  0.12

• cancer

  0.12

• hepatocellular carcinoma

  0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with LDHA

Curated MONDO disease pages that list LDHA among their top associated genes.

• posterior cortical atrophyRare
• nonpapillary renal cell carcinomaRare
• pancreatic neoplasmRare