MCID: MTC027
MIFTS: 54

Mitochondrial Trifunctional Protein Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Trifunctional Protein Deficiency

MalaCards integrated aliases for Mitochondrial Trifunctional Protein Deficiency:

Name: Mitochondrial Trifunctional Protein Deficiency 57 76 53 25 59 75 37 29 6 40
Trifunctional Protein Deficiency with Myopathy and Neuropathy 75 29 6 73
Trifunctional Protein Deficiency 57 75 13
Tfp Deficiency 53 25 59
Mtpd 57 75
Trifunctional Protein Deficiency, Type 2 25
Abetalipoproteinemia 73
Mtp Deficiency 25
Tpa Deficiency 25
Tfpd 59

Characteristics:

Orphanet epidemiological data:

59
mitochondrial trifunctional protein deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
sudden infant death may occur
three major clinical forms are apparent
rapidly progressive neonatal onset with early death
infantile onset with hepatic involvement
childhood or adolescent onset, protracted, with myopathy and neuropathy
symptoms may be aggravated by acute illness
most patients die from heart failure


HPO:

32
mitochondrial trifunctional protein deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Trifunctional Protein Deficiency

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 746Disease definitionMitochondrial 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..EpidemiologyTFPD has been reported in less than 100 cases in the literature.Clinical descriptionThe neonatal onset, severe form manifests as hepatic steatosis, cardiomyopathy, skeletal myopathy and neuropathy and is usually fatal. A moderately severe form, with onset usually from the neonatal period to 18 months of age, presents primarily with hypoketotic hypoglycemia and metabolic acidosis which is often precipitated by prolonged fasting and/or intercurrent illness. Both forms can manifest with neuropathy with or without cardiomyopathy and can be fatal. The mild form merges with the moderately severe infantile form and can present from a few months of age until adolescence as a peripheral polyneuropathy with episodic rhabdomyolysis triggered by prolonged fasting, illness, exercise or exposure to heat or cold. There is respiratory failure associated with the episodes of rhabdomyolysis. A pigmentary retinopathy may also develop over time. Very occasionally, adults presenting for the first time with a previously unrecognized disease are described.EtiologyThe TFP, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids which are the long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase (LCEH), and long-chain thiolase (LCTH) steps. The HADHA gene (2p23) encodes the LCEH and LCHAD enzymes and the HADHB gene (2p23) encodes the LCTH enzyme. Two mutations in either one of these two genes causes TFPD.Diagnostic methodsUrine organic acids may show a C6-C14 (hydroxy) dicarboxylic aciduria, and blood acylcarnitine analysis often shows increased long chain hydroxyacyl carnitine species (C14-OH, C16-OH, C18-OH, C18:1-OH). Both urine and blood markers are less reliable and more variable than those seen in LCHAD deficiency (see this term). This is because defects in LCEH may block the formation of hydroxy-metabolites. Reduced enzyme activity in at least two (usually all 3) enzymes in cultured fibroblasts is seen. Molecular analysis confirming bi-allelic non-1528C>G mutations in the HADHA gene or bi-allelic mutations in the HADHBgene confirms diagnosis. Newborn screening is available in Austria, Czech Republic, Denmark, Germany, Hungary, Iceland, Netherlands and Portugal.Differential diagnosisSudden infant death syndrome and isolated LCHAD deficiency (see this term) form part of the differential diagnosis. LCHAD deficiency is clinically indistinguishable from severe TFPD.Antenatal diagnosisPrenatal diagnosis is possible by analyzing enzyme activity in chorionic villi samples, once a deficiency of TFP has been established in the index case/family. Molecular analysis is the preferred option when two mutations have been identified in a family.Genetic counselingTFPD is an autosomal recessive disorder and genetic counseling is possible.Management and treatmentTreatment involves adherence to a low fat diet with restriction of long chain fatty acid intake and substitution with medium chain fatty acids. Fasting and exposure to environmental extremes must be strictly avoided and exercise should be limited.PrognosisPrognosis for the severe neonatal form of TFPD is very poor. The later onset mild form has a far more favorable prognosis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mitochondrial Trifunctional Protein Deficiency, also known as trifunctional protein deficiency with myopathy and neuropathy, is related to long-chain 3-hydroxyacyl-coa dehydrogenase deficiency and abetalipoproteinemia, and has symptoms including ataxia, myalgia and weakness. An important gene associated with Mitochondrial Trifunctional Protein Deficiency is HADHA (Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. The drugs Heparin and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related phenotypes are pigmentary retinopathy and muscular hypotonia

Genetics Home Reference : 25 Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

OMIM : 57 The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS; 272120), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003). Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003). See also isolated LCHAD deficiency (609016), which is caused by mutation in the HADHA gene. (609015)

UniProtKB/Swiss-Prot : 75 Mitochondrial trifunctional protein deficiency: A disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure.

Wikipedia : 76 Mitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorder... more...

Related Diseases for Mitochondrial Trifunctional Protein Deficiency

Diseases related to Mitochondrial Trifunctional Protein Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 27.8 GAREM2 HADHA HADHB
2 abetalipoproteinemia 11.3
3 hypoparathyroidism 10.2
4 enterocolitis 9.9
5 myoglobinuria, recurrent 9.9
6 charcot-marie-tooth disease 9.9
7 myoglobinuria 9.9
8 tooth disease 9.9
9 peripheral nervous system disease 9.9
10 perinatal necrotizing enterocolitis 9.9
11 neuropathy 9.9
12 fatty liver disease 9.9
13 acute respiratory distress syndrome 9.9
14 critical limb ischemia 9.7
15 limb ischemia 9.7
16 ischemia 9.7
17 endotheliitis 9.7
18 d-bifunctional protein deficiency 9.5 EHHADH HADHB
19 acyl-coa dehydrogenase, very long-chain, deficiency of 9.2 HADHA HADHB

Graphical network of the top 20 diseases related to Mitochondrial Trifunctional Protein Deficiency:



Diseases related to Mitochondrial Trifunctional Protein Deficiency

Symptoms & Phenotypes for Mitochondrial Trifunctional Protein Deficiency

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
small for gestational age

Respiratory:
respiratory failure

Cardiovascular Heart:
dilated cardiomyopathy
cardiac failure
low-output cardiomyopathy

Neurologic Central Nervous System:
delayed psychomotor development
poor spontaneous movements

Head And Neck Eyes:
pigmentary retinopathy (rare)

Metabolic Features:
lactic acidosis endocrine : hypoparathyroidism (in some patients)

Prenatal Manifestations Amniotic Fluid:
hydrops fetalis

Laboratory Abnormalities:
hyperammonemia
hypoketotic hypoglycemia
myoglobinuria
abnormal liver enzymes
decreased activity of long-chain 3-hydroxyacyl-coa dehydrogenase, long-chain 3-oxoacyl-coa thiolase, and long-chain 2-enoyl-coa hydratase
more
Muscle Soft Tissue:
hypotonia
muscle pain
generalized weakness
limb-girdle myopathy, slowly progressive
rhabdomyolysis, episodic

Abdomen Liver:
hepatic dysfunction

Neurologic Peripheral Nervous System:
sensorimotor axonopathy

Prenatal Manifestations Maternal:
hellp syndrome (hemolysis, elevated liver enzymes, low platelets)


Clinical features from OMIM:

609015

Human phenotypes related to Mitochondrial Trifunctional Protein Deficiency:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 pigmentary retinopathy 32 very rare (1%) HP:0000580
2 muscular hypotonia 32 HP:0001252
3 global developmental delay 32 HP:0001263
4 generalized hypotonia 32 HP:0001290
5 failure to thrive 32 HP:0001508
6 small for gestational age 32 HP:0001518
7 abnormality of the amniotic fluid 32 HP:0001560
8 congestive heart failure 32 HP:0001635
9 dilated cardiomyopathy 32 HP:0001644
10 hydrops fetalis 32 HP:0001789
11 hypoketotic hypoglycemia 32 HP:0001985
12 hyperammonemia 32 HP:0001987
13 respiratory insufficiency 32 HP:0002093
14 prenatal maternal abnormality 32 HP:0002686
15 respiratory failure 32 HP:0002878
16 elevated hepatic transaminases 32 HP:0002910
17 myoglobinuria 32 HP:0002913
18 lactic acidosis 32 HP:0003128
19 rhabdomyolysis 32 HP:0003201
20 generalized muscle weakness 32 HP:0003324
21 myalgia 32 HP:0003326
22 peripheral neuropathy 32 HP:0009830

UMLS symptoms related to Mitochondrial Trifunctional Protein Deficiency:


ataxia, myalgia, weakness

GenomeRNAi Phenotypes related to Mitochondrial Trifunctional Protein Deficiency according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.53 EHHADH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.53 EHHADH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.53 EHHADH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.53 EHHADH
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.53 HADHB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.53 HADHB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.53 EHHADH GAREM2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.53 HADHB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.53 HADHB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.53 HADHB
11 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.53 EHHADH GAREM2 HADHB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.53 EHHADH
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.53 EHHADH
14 Increased G1 length, increased G2 length GR00237-A 8.96 HADHA HADHB

MGI Mouse Phenotypes related to Mitochondrial Trifunctional Protein Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.13 EHHADH HADHA HADHB
2 muscle MP:0005369 8.8 EHHADH HADHA HADHB

Drugs & Therapeutics for Mitochondrial Trifunctional Protein Deficiency

Drugs for Mitochondrial Trifunctional Protein Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
2
Glycerol Approved, Investigational Not Applicable 56-81-5 753
3
Tocopherol Approved, Investigational, Nutraceutical Not Applicable 1406-66-2 14986
4
Vitamin E Approved, Nutraceutical, Vet_approved Not Applicable 59-02-9 14985
5 calcium heparin Not Applicable
6 insulin Not Applicable
7 Fibrinolytic Agents Not Applicable
8 Soybean oil, phospholipid emulsion Not Applicable
9 Parenteral Nutrition Solutions Not Applicable
10 Hypoglycemic Agents Not Applicable
11 Pharmaceutical Solutions Not Applicable
12 Anticoagulants Not Applicable
13 Fat Emulsions, Intravenous Not Applicable
14 Insulin, Globin Zinc Not Applicable
15 Protective Agents Not Applicable
16 Calcium, Dietary Not Applicable
17 Micronutrients Not Applicable
18 Tocopherols Not Applicable
19 Tocotrienols Not Applicable
20 Trace Elements Not Applicable
21 Vitamins Not Applicable
22 Antioxidants Not Applicable
23 Soy Bean Nutraceutical Not Applicable
24 pyruvate Nutraceutical
25 Tocotrienol Investigational, Nutraceutical Not Applicable 6829-55-6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
2 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant Completed NCT00654004
3 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
4 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
5 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304 triheptanoin
6 Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated Neuropathy Terminated NCT00840112 Not Applicable

Search NIH Clinical Center for Mitochondrial Trifunctional Protein Deficiency

Genetic Tests for Mitochondrial Trifunctional Protein Deficiency

Genetic tests related to Mitochondrial Trifunctional Protein Deficiency:

# Genetic test Affiliating Genes
1 Mitochondrial Trifunctional Protein Deficiency 29 HADHA HADHB
2 Trifunctional Protein Deficiency with Myopathy and Neuropathy 29

Anatomical Context for Mitochondrial Trifunctional Protein Deficiency

MalaCards organs/tissues related to Mitochondrial Trifunctional Protein Deficiency:

41
Liver, Heart, Skin

Publications for Mitochondrial Trifunctional Protein Deficiency

Articles related to Mitochondrial Trifunctional Protein Deficiency:

(show all 37)
# Title Authors Year
1
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease. ( 28132977 )
2017
2
Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation. ( 29124685 )
2017
3
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency. ( 28112527 )
2017
4
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency. ( 28685493 )
2017
5
A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis. ( 27014569 )
2016
6
Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family. ( 28649548 )
2015
7
Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation. ( 26206388 )
2015
8
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate. ( 26109258 )
2015
9
Reply to the correspondence letter by J. Finsterer and S. Zarrouk-Mahjoub "Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation". ( 26226894 )
2015
10
Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency. ( 25420603 )
2014
11
Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis. ( 23868323 )
2013
12
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. ( 23430487 )
2013
13
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency. ( 21549624 )
2011
14
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence. ( 22000755 )
2011
15
Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis. ( 19433283 )
2009
16
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency. ( 19880769 )
2009
17
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency. ( 19699128 )
2009
18
Study of deep intronic sequence exonization in a Japanese neonate with a mitochondrial trifunctional protein deficiency. ( 18693053 )
2008
19
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency. ( 17143551 )
2007
20
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency. ( 16523289 )
2006
21
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. ( 15902556 )
2005
22
Mitochondrial trifunctional protein deficiency in a lethal neonate. ( 15056246 )
2004
23
The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement. ( 15243991 )
2004
24
A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy. ( 12971428 )
2003
25
Morphological investigation of two sibling autopsy cases of mitochondrial trifunctional protein deficiency. ( 14629302 )
2003
26
Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. ( 12838198 )
2003
27
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. ( 12754706 )
2003
28
Accumulation of 3-hydroxy-fatty acids in the culture medium of long-chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein-deficient skin fibroblasts: implications for medium chain triglyceride dietary treatment of LCHAD deficiency. ( 12621125 )
2003
29
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies. ( 14605499 )
2003
30
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies. ( 11855930 )
2002
31
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. ( 10400133 )
1999
32
Effects of a low-dose L-carnitine supplement on an adult patient with mitochondrial trifunctional protein deficiency. ( 10086910 )
1999
33
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. ( 9305349 )
1997
34
Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect. ( 9427156 )
1997
35
Hypoparathyroidism in mitochondrial trifunctional protein deficiency. ( 8757579 )
1996
36
Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. ( 8651282 )
1996
37
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. ( 8163672 )
1994

Variations for Mitochondrial Trifunctional Protein Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Trifunctional Protein Deficiency:

75 (show all 16)
# Symbol AA change Variation ID SNP ID
1 HADHA p.Val282Asp VAR_021125 rs137852773
2 HADHA p.Ile305Asn VAR_021126 rs137852774
3 HADHB p.Arg61His VAR_007493 rs121913132
4 HADHB p.Arg247His VAR_007494 rs121913133
5 HADHB p.Asp263Gly VAR_007495 rs121913131
6 HADHB p.Arg444Lys VAR_017409 rs121913134
7 HADHB p.Gly59Asp VAR_021128
8 HADHB p.Arg61Cys VAR_021129 rs780351691
9 HADHB p.Arg117Gly VAR_021130
10 HADHB p.Leu121Pro VAR_021131 rs773127211
11 HADHB p.Thr133Pro VAR_021132 rs371159065
12 HADHB p.Asp242Gly VAR_021133
13 HADHB p.Gly280Asp VAR_021135 rs751772298
14 HADHB p.Pro294Leu VAR_021136
15 HADHB p.Pro294Arg VAR_021137
16 HADHB p.Gly301Ser VAR_021138 rs891954464

ClinVar genetic disease variations for Mitochondrial Trifunctional Protein Deficiency:

6
(show top 50) (show all 192)
# Gene Variation Type Significance SNP ID Assembly Location
1 HADHA NM_000182.4(HADHA): c.1528G> C (p.Glu510Gln) single nucleotide variant Pathogenic rs137852769 GRCh37 Chromosome 2, 26418053: 26418053
2 HADHA NM_000182.4(HADHA): c.1528G> C (p.Glu510Gln) single nucleotide variant Pathogenic rs137852769 GRCh38 Chromosome 2, 26195184: 26195184
3 HADHA NM_000182.4(HADHA): c.1132C> T (p.Gln378Ter) single nucleotide variant Pathogenic rs137852770 GRCh37 Chromosome 2, 26427019: 26427019
4 HADHA NM_000182.4(HADHA): c.1132C> T (p.Gln378Ter) single nucleotide variant Pathogenic rs137852770 GRCh38 Chromosome 2, 26204150: 26204150
5 HADHA NM_000182.4(HADHA): c.180+1G> A single nucleotide variant Pathogenic rs786205088 GRCh37 Chromosome 2, 26461801: 26461801
6 HADHA NM_000182.4(HADHA): c.180+1G> A single nucleotide variant Pathogenic rs786205088 GRCh38 Chromosome 2, 26238933: 26238933
7 HADHA NM_000182.4(HADHA): c.180+3A> G single nucleotide variant Pathogenic rs781222705 GRCh37 Chromosome 2, 26461799: 26461799
8 HADHA NM_000182.4(HADHA): c.180+3A> G single nucleotide variant Pathogenic rs781222705 GRCh38 Chromosome 2, 26238931: 26238931
9 HADHA NM_000182.4(HADHA): c.1678C> T (p.Arg560Ter) single nucleotide variant Pathogenic rs137852771 GRCh37 Chromosome 2, 26417450: 26417450
10 HADHA NM_000182.4(HADHA): c.1678C> T (p.Arg560Ter) single nucleotide variant Pathogenic rs137852771 GRCh38 Chromosome 2, 26194581: 26194581
11 HADHA HADHA, 1-BP INS, 2129C insertion Pathogenic
12 HADHA NM_000182.4(HADHA): c.1025T> C (p.Leu342Pro) single nucleotide variant Pathogenic rs137852772 GRCh37 Chromosome 2, 26432709: 26432709
13 HADHA NM_000182.4(HADHA): c.1025T> C (p.Leu342Pro) single nucleotide variant Pathogenic rs137852772 GRCh38 Chromosome 2, 26209840: 26209840
14 HADHA NM_000182.4(HADHA): c.845T> A (p.Val282Asp) single nucleotide variant Pathogenic rs137852773 GRCh37 Chromosome 2, 26437385: 26437385
15 HADHA NM_000182.4(HADHA): c.845T> A (p.Val282Asp) single nucleotide variant Pathogenic rs137852773 GRCh38 Chromosome 2, 26214516: 26214516
16 HADHA NM_000182.4(HADHA): c.914T> A (p.Ile305Asn) single nucleotide variant Likely pathogenic rs137852774 GRCh37 Chromosome 2, 26437316: 26437316
17 HADHA NM_000182.4(HADHA): c.914T> A (p.Ile305Asn) single nucleotide variant Likely pathogenic rs137852774 GRCh38 Chromosome 2, 26214447: 26214447
18 HADHA NM_000182.4(HADHA): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852775 GRCh37 Chromosome 2, 26437359: 26437359
19 HADHA NM_000182.4(HADHA): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852775 GRCh38 Chromosome 2, 26214490: 26214490
20 HADHB NM_000183.2(HADHB): c.788A> G (p.Asp263Gly) single nucleotide variant Pathogenic rs121913131 GRCh37 Chromosome 2, 26502160: 26502160
21 HADHB NM_000183.2(HADHB): c.788A> G (p.Asp263Gly) single nucleotide variant Pathogenic rs121913131 GRCh38 Chromosome 2, 26279292: 26279292
22 HADHB NM_000183.2(HADHB): c.182G> A (p.Arg61His) single nucleotide variant Likely pathogenic rs121913132 GRCh37 Chromosome 2, 26486320: 26486320
23 HADHB NM_000183.2(HADHB): c.182G> A (p.Arg61His) single nucleotide variant Likely pathogenic rs121913132 GRCh38 Chromosome 2, 26263452: 26263452
24 HADHB NM_000183.2(HADHB): c.740G> A (p.Arg247His) single nucleotide variant Likely pathogenic rs121913133 GRCh37 Chromosome 2, 26502112: 26502112
25 HADHB NM_000183.2(HADHB): c.740G> A (p.Arg247His) single nucleotide variant Likely pathogenic rs121913133 GRCh38 Chromosome 2, 26279244: 26279244
26 HADHB NM_000183.2(HADHB): c.1331G> A (p.Arg444Lys) single nucleotide variant Pathogenic rs121913134 GRCh37 Chromosome 2, 26508381: 26508381
27 HADHB NM_000183.2(HADHB): c.1331G> A (p.Arg444Lys) single nucleotide variant Pathogenic rs121913134 GRCh38 Chromosome 2, 26285513: 26285513
28 HADHB HADHB, 1-BP INS, 36-BP DEL indel Pathogenic
29 HADHB NM_000183.2(HADHB): c.1364T> G (p.Val455Gly) single nucleotide variant Pathogenic rs267606859 GRCh37 Chromosome 2, 26508414: 26508414
30 HADHB NM_000183.2(HADHB): c.1364T> G (p.Val455Gly) single nucleotide variant Pathogenic rs267606859 GRCh38 Chromosome 2, 26285546: 26285546
31 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147103714 GRCh37 Chromosome 2, 26461825: 26461825
32 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147103714 GRCh38 Chromosome 2, 26238957: 26238957
33 HADHA NM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh37 Chromosome 2, 26459759: 26459763
34 HADHA NM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh38 Chromosome 2, 26236891: 26236895
35 HADHB NM_000183.2(HADHB): c.1175C> T (p.Ala392Val) single nucleotide variant Pathogenic rs764623179 GRCh37 Chromosome 2, 26507776: 26507776
36 HADHB NM_000183.2(HADHB): c.1175C> T (p.Ala392Val) single nucleotide variant Pathogenic rs764623179 GRCh38 Chromosome 2, 26284908: 26284908
37 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh37 Chromosome 2, 26435497: 26435497
38 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh38 Chromosome 2, 26212628: 26212628
39 HADHA NM_000182.4(HADHA): c.1918C> T (p.Gln640Ter) single nucleotide variant Pathogenic rs794727198 GRCh37 Chromosome 2, 26415261: 26415261
40 HADHA NM_000182.4(HADHA): c.1918C> T (p.Gln640Ter) single nucleotide variant Pathogenic rs794727198 GRCh38 Chromosome 2, 26192392: 26192392
41 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic rs794727219 GRCh37 Chromosome 2, 26414351: 26414351
42 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic rs794727219 GRCh38 Chromosome 2, 26191482: 26191482
43 HADHA NM_000182.4(HADHA): c.1690-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111662358 GRCh37 Chromosome 2, 26416647: 26416647
44 HADHA NM_000182.4(HADHA): c.1690-6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111662358 GRCh38 Chromosome 2, 26193778: 26193778
45 HADHA NM_000182.4(HADHA): c.1392+10G> A single nucleotide variant Benign/Likely benign rs60085478 GRCh37 Chromosome 2, 26424008: 26424008
46 HADHA NM_000182.4(HADHA): c.1392+10G> A single nucleotide variant Benign/Likely benign rs60085478 GRCh38 Chromosome 2, 26201139: 26201139
47 HADHA NM_000182.4(HADHA): c.573+8_573+9insT duplication Benign rs112196218 GRCh37 Chromosome 2, 26455020: 26455020
48 HADHA NM_000182.4(HADHA): c.573+8_573+9insT duplication Benign rs112196218 GRCh38 Chromosome 2, 26232152: 26232152
49 HADHB NM_000183.2(HADHB): c.780C> T (p.Leu260=) single nucleotide variant Benign rs7607527 GRCh38 Chromosome 2, 26279284: 26279284
50 HADHB NM_000183.2(HADHB): c.780C> T (p.Leu260=) single nucleotide variant Benign rs7607527 GRCh37 Chromosome 2, 26502152: 26502152

Expression for Mitochondrial Trifunctional Protein Deficiency

Search GEO for disease gene expression data for Mitochondrial Trifunctional Protein Deficiency.

Pathways for Mitochondrial Trifunctional Protein Deficiency

Pathways related to Mitochondrial Trifunctional Protein Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Fatty acid metabolism hsa01212

Pathways related to Mitochondrial Trifunctional Protein Deficiency according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.87 EHHADH HADHA
2
Show member pathways
11.78 EHHADH HADHA
3 11.74 HADHA HADHB
4
Show member pathways
11.5 EHHADH HADHA HADHB
5
Show member pathways
11.33 HADHA HADHB
6
Show member pathways
11.3 EHHADH HADHA HADHB
7 11.27 EHHADH HADHA
8
Show member pathways
11.2 EHHADH HADHB
9
Show member pathways
11.18 HADHA HADHB
10
Show member pathways
11.01 EHHADH HADHA
11
Show member pathways
10.94 EHHADH HADHA
12 10.87 EHHADH HADHA
13
Show member pathways
10.86 EHHADH HADHA HADHB
14
Show member pathways
10.32 HADHA HADHB
15 9.91 EHHADH HADHA HADHB

GO Terms for Mitochondrial Trifunctional Protein Deficiency

Cellular components related to Mitochondrial Trifunctional Protein Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial nucleoid GO:0042645 8.62 HADHA HADHB

Biological processes related to Mitochondrial Trifunctional Protein Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.5 EHHADH HADHA HADHB
2 metabolic process GO:0008152 9.43 EHHADH HADHA HADHB
3 fatty acid metabolic process GO:0006631 9.33 EHHADH HADHA HADHB
4 cardiolipin acyl-chain remodeling GO:0035965 8.96 HADHA HADHB
5 fatty acid beta-oxidation GO:0006635 8.8 EHHADH HADHA HADHB

Molecular functions related to Mitochondrial Trifunctional Protein Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 9.37 EHHADH HADHA
2 acetyl-CoA C-acyltransferase activity GO:0003988 9.32 HADHA HADHB
3 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.26 HADHA HADHB
4 long-chain-enoyl-CoA hydratase activity GO:0016508 9.16 EHHADH HADHA
5 enoyl-CoA hydratase activity GO:0004300 9.13 EHHADH HADHA HADHB
6 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.8 EHHADH HADHA HADHB

Sources for Mitochondrial Trifunctional Protein Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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