Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mitochondrial trifunctional protein deficiency (MTPD) is a rare disorder caused by mutations in the HADHA and HADHB genes.
|
29956646 |
2019 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
DKA = diabetic ketoacidosis; EMR = electronic medical record; GSD = glycogen storage disorder; HbA1c = hemoglobin A1c; HIV = human immunodeficiency virus; HTG = hypertriglyceridemia; ICD-9 = International Classification of Diseases-Ninth Revision; IV = intravenous; LCHAD = long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency; LPL = lipoprotein lipase; NPO = nothing by mouth; PCOS = polycystic ovary syndrome; T1DM = type 1 diabetes mellitus; T2DM = type 2 diabetes mellitus; TG = triglyceride; TPN = total parenteral nutrition; VLDL = very-low-density lipoprotein.
|
30084679 |
2018 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
|
29519241 |
2018 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.
|
29095929 |
2017 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
Biomarker
|
disease |
BEFREE |
In pregnancies at risk of having a child with LCHAD/TFP deficiency, umbilical cord blood sample is an efficient method to diagnose an inborn error of metabolism such as LCHAD/TFP deficiency.
|
27995076 |
2017 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.
|
29095929 |
2017 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
|
29268767 |
2017 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
|
26109258 |
2016 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
|
27491397 |
2016 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
|
26109258 |
2016 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
|
26109258 |
2016 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.
|
27491397 |
2016 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Rhabdomyolysis: a genetic perspective.
|
25929793 |
2015 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Patient-Specific Induced Pluripotent Stem Cell-Derived RPE Cells: Understanding the Pathogenesis of Retinopathy in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
|
26024122 |
2015 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.
|
23868323 |
2013 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.
|
23868323 |
2013 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis.
|
23868323 |
2013 |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
|
23798014 |
2013 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.
|
22065858 |
2012 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
|
22459206 |
2012 |
Trifunctional Protein Deficiency With Myopathy And Neuropathy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Other mutations in HADHA or HADHB often lead to significant reduction in all three enzymatic activities and result in trifunctional protein deficiency (TFPD).
|
22459206 |
2012 |