rs757075712, TFAM

N. diseases: 15
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Liver Failure
CUI: C0085605
Disease: Liver Failure
0.710 GeneticVariation 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
Conjugated hyperbilirubinemia
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
0.710 GeneticVariation 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
Conjugated hyperbilirubinemia
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
0.710 GeneticVariation CLINVAR
Liver Failure
CUI: C0085605
Disease: Liver Failure
0.710 GeneticVariation CLINVAR
Deoxyguanosine Kinase Deficiency
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
0.700 GeneticVariation CLINVAR
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.700 GeneticVariation CLINVAR
Fetus Small for Gestational Age
CUI: C1855652
Disease: Fetus Small for Gestational Age
0.700 GeneticVariation CLINVAR
Ascites
CUI: C0003962
Disease: Ascites
0.700 GeneticVariation CLINVAR
Hypertransaminasaemia
CUI: C2242708
Disease: Hypertransaminasaemia
0.700 GeneticVariation CLINVAR
Hypoalbuminemia
CUI: C0239981
Disease: Hypoalbuminemia
0.700 GeneticVariation CLINVAR
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
0.700 GeneticVariation CLINVAR
Fetal Growth Retardation
CUI: C0015934
Disease: Fetal Growth Retardation
0.700 GeneticVariation CLINVAR
Abnormal mitochondrial morphology
CUI: C4014650
Disease: Abnormal mitochondrial morphology
0.700 GeneticVariation CLINVAR
Depletion of mitochondrial DNA
CUI: C0342782
Disease: Depletion of mitochondrial DNA
0.700 GeneticVariation CLINVAR
Cholestasis
CUI: C0008370
Disease: Cholestasis
0.700 GeneticVariation CLINVAR
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
0.700 GeneticVariation CLINVAR
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
0.010 GeneticVariation 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