TFAM, transcription factor A, mitochondrial, 7019

N. diseases: 147; N. variants: 4
Disease: Hypoglycemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.110 GeneticVariation disease BEFREE Through clinical exome sequencing, we identified a homozygous missense variant (c.533C>T; p.Pro178Leu) in mitochondrial transcription factor A (TFAM) segregating in a consanguineous kindred of Colombian-Basque descent in which two siblings presented with IUGR, elevated transaminases, conjugated hyperbilirubinemia and hypoglycemia with progression to liver failure and death in early infancy. 27448789 2016
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.110 Biomarker disease HPO