Mitochondrial Phosphate Carrier Deficiency (MPCD)

Mitochondrial Phosphate Carrier Deficiency(来自ICD-11)

别称:

Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome

Neonatal Hypertrophic Cardiomyopathy, Respiratory Insufficiency, Hypotonia, and Lactic Acidosis

Mpcd

Mi Phosphate Carrier Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Phosphate Carrier Deficiency, also known as cardiomyopathy-hypotonia-lactic acidosis syndrome, is related to cardiomyopathy, familial hypertrophic, 1 and hypertrophic cardiomyopathy. An important gene associated with Mitochondrial Phosphate Carrier Deficiency is SLC25A3 (Solute Carrier Family 25 Member 3). Affiliated tissues include heart and endothelial, and related phenotypes are hypotonia and hypertrophic cardiomyopathy

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