Details of Disease

General Information of Disease (ID: DIS2MYYR)

Disease Name Mitochondrial trifunctional protein deficiency
Synonyms
MTPD; mitochondrial trifunctional PROTEIN deficiency; trifunctional Protein deficiency with myopathy and neuropathy; trifunctional Protein deficiency; TFPD; TFP deficiency; mitochondrial trifunctional protein deficiency
Definition
Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..
Disease Hierarchy
DIS9SA7V: Mitochondrial myopathy
DISEOA7S: Lipid metabolism disorder
DIS2MYYR: Mitochondrial trifunctional protein deficiency
Disease Identifiers
MONDO ID
MONDO_0012172
MESH ID
C566945
UMLS CUI
C1969443
OMIM ID
609015
MedGen ID
370665
Orphanet ID
746
SNOMED CT ID
237999008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GAA TTLPC70 Strong Biomarker [1]
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This Disease Is Related to 10 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACADVL OT50L4XB Strong Altered Expression [2]
CHPT1 OT4FJ0K3 Strong Altered Expression [3]
EHHADH OTBAAHL5 Strong Biomarker [4]
GBE1 OTK2N05B Strong Biomarker [1]
GFM2 OT51TIMY Strong Altered Expression [2]
HADH OTJDOL20 Strong Genetic Variation [5]
HADHA OTO557N2 Strong Autosomal recessive [6]
MRRF OT6AHPVG Strong Altered Expression [2]
TRIM39 OTESLVP9 Strong Genetic Variation [2]
HADHB OT4Y1I62 Definitive Autosomal recessive [7]
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⏷ Show the Full List of 10 DOT(s)

References

1 Neonatal metabolic myopathies.Semin Perinatol. 1999 Apr;23(2):125-51. doi: 10.1016/s0146-0005(99)80046-9.
2 A diagnostic algorithm for metabolic myopathies.Curr Neurol Neurosci Rep. 2010 Mar;10(2):118-26. doi: 10.1007/s11910-010-0096-4.
3 Pharmacological inhibition of carnitine palmitoyltransferase 1 restores mitochondrial oxidative phosphorylation in human trifunctional protein deficient fibroblasts.Biochim Biophys Acta Mol Basis Dis. 2017 Jun;1863(6):1292-1299. doi: 10.1016/j.bbadis.2017.04.005. Epub 2017 Apr 6.
4 Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy.Pediatr Res. 2000 Jan;47(1):43-5. doi: 10.1203/00006450-200001000-00010.
5 Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.J Clin Invest. 1998 Sep 15;102(6):1193-9. doi: 10.1172/JCI2091.
6 Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. Mol Genet Metab. 2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006. Epub 2011 Apr 19.
7 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.