MCID: TRF001
MIFTS: 55

Trifunctional Protein Deficiency

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

Aliases & Classifications for Trifunctional Protein Deficiency

MalaCards integrated aliases for Trifunctional Protein Deficiency:

Name: Trifunctional Protein Deficiency 54 24 71 13
Mitochondrial Trifunctional Protein Deficiency 50 25 56 71 29
Trifunctional Protein Deficiency with Myopathy and Neuropathy 71 29 69
Tfp Deficiency 50 25 56
Trifunctional Protein Deficiency, Type 2 25
Abetalipoproteinemia 69
Mtp Deficiency 25
Tpa Deficiency 25
Tfpd 56
Mtpd 71

Characteristics:

Orphanet epidemiological data:

56
mitochondrial trifunctional protein deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

54
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
trifunctional protein deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Trifunctional Protein Deficiency

NIH Rare Diseases : 50 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. last updated: 2/24/2014

MalaCards based summary : Trifunctional Protein Deficiency, also known as mitochondrial trifunctional protein deficiency, is related to lchad deficiency and abetalipoproteinemia, and has symptoms including failure to thrive, pigmentary retinopathy and peripheral neuropathy. An important gene associated with Trifunctional Protein Deficiency is HADHB (Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Beta Subunit), and among its related pathways/superpathways are Carbon metabolism and superpathway of tryptophan utilization. The drugs carnitine and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and liver/biliary system

UniProtKB/Swiss-Prot : 71 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.

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 : 54
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)

Wikipedia : 72 Mitochondrial trifunctional protein deficiency is an autosomal recessive fatty acid oxidation disorder... more...

Related Diseases for Trifunctional Protein Deficiency

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



Diseases related to Trifunctional Protein Deficiency

Symptoms & Phenotypes for Trifunctional Protein Deficiency

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive
small for gestational age

Neurologic- Central Nervous System:
delayed psychomotor development
poor spontaneous movements

Laboratory- Abnormalities:
hypoketotic hypoglycemia
hyperammonemia
abnormal liver enzymes
myoglobinuria
decreased activity of long-chain 3-hydroxyacyl-coa dehydrogenase, long-chain 3-oxoacyl-coa thiolase, and long-chain 2-enoyl-coa hydratase
more
Prenatal Manifestations- Amniotic Fluid:
hydrops fetalis

Head And Neck- Eyes:
pigmentary retinopathy (rare)

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

Muscle Soft Tissue:
hypotonia
muscle pain
generalized weakness
rhabdomyolysis, episodic
limb-girdle myopathy, slowly progressive

Cardiovascular- Heart:
dilated cardiomyopathy
cardiac failure
low-output cardiomyopathy

Respiratory:
respiratory failure

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 Trifunctional Protein Deficiency:

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

UMLS symptoms related to Trifunctional Protein Deficiency:


ataxia, myalgia, weakness

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.47 EHHADH
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.47 EHHADH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.47 EHHADH
4 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.47 EHHADH
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.47 HADHB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.47 HADHB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.47 EHHADH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.47 HADHB
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.47 HADHB
10 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.47 HADHB
11 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.47 EHHADH HADHB
12 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.47 EHHADH
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.47 EHHADH
14 Increased G1 length, increased G2 length GR00237-A 8.96 HADHA HADHB

MGI Mouse Phenotypes related to Trifunctional Protein Deficiency:

44
id 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 Trifunctional Protein Deficiency

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

(show all 26)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 carnitine Nutraceutical Phase 2
2
Glycerol Approved, Investigational 56-81-5 753
3
Heparin Approved, Investigational 9005-49-6 772 46507594
4 Tocopherol Approved, Nutraceutical
5
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
6 Anticoagulants
7 calcium heparin
8 Calcium, Dietary
9 Fat Emulsions, Intravenous
10 Fibrinolytic Agents
11 Hypoglycemic Agents
12 insulin
13 Insulin, Globin Zinc
14 Parenteral Nutrition Solutions
15 Pharmaceutical Solutions
16 Protective Agents
17 Soybean oil, phospholipid emulsion
18 Antioxidants
19 Micronutrients
20 Tocopherols
21 Tocotrienols
22 Trace Elements
23 Vitamins
24 Soy Bean Nutraceutical
25 pyruvate Nutraceutical
26 Tocotrienol Investigational, Nutraceutical 6829-55-6

Interventional clinical trials:


id 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 Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies. Enrolling by invitation NCT02214160 Phase 2 UX007
3 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant Completed NCT00654004
4 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
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

Search NIH Clinical Center for Trifunctional Protein Deficiency

Genetic Tests for Trifunctional Protein Deficiency

Genetic tests related to Trifunctional Protein Deficiency:

id Genetic test Affiliating Genes
1 Mitochondrial Trifunctional Protein Deficiency 29
2 Trifunctional Protein Deficiency with Myopathy and Neuropathy 29
3 Trifunctional Protein Deficiency 24 HADHA HADHB

Anatomical Context for Trifunctional Protein Deficiency

MalaCards organs/tissues related to Trifunctional Protein Deficiency:

39
Liver, Heart, Skin

Publications for Trifunctional Protein Deficiency

Articles related to Trifunctional Protein Deficiency:

(show all 45)
id Title Authors Year
1
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease. ( 28132977 )
2017
2
Identification of a Novel HADHB Gene Mutation in an Iranian Patient with Mitochondrial Trifunctional Protein Deficiency. ( 28112527 )
2017
3
Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency. ( 28685493 )
2017
4
A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis. ( 27014569 )
2016
5
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
6
Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family. ( 28649548 )
2015
7
Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate. ( 26109258 )
2015
8
Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation. ( 26206388 )
2015
9
Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency. ( 25420603 )
2014
10
Mitochondrial trifunctional protein deficiency: a rare cause of adult-onset rhabdomyolysis. ( 23868323 )
2013
11
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency. ( 23430487 )
2013
12
Fatty Acid Accumulation and Resulting PPARI+ Activation in Fibroblasts due to Trifunctional Protein Deficiency. ( 22654897 )
2012
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
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency. ( 19880769 )
2009
16
Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency. ( 19699128 )
2009
17
Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis. ( 19433283 )
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
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. ( 16040264 )
2005
22
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. ( 15902556 )
2005
23
Mitochondrial trifunctional protein deficiency in a lethal neonate. ( 15056246 )
2004
24
The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement. ( 15243991 )
2004
25
Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. ( 12754706 )
2003
26
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
27
Morphological investigation of two sibling autopsy cases of mitochondrial trifunctional protein deficiency. ( 14629302 )
2003
28
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies. ( 14605499 )
2003
29
Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. ( 12838198 )
2003
30
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
31
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies. ( 11855930 )
2002
32
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations. ( 12442268 )
2002
33
Trifunctional protein deficiency: three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation. ( 11196108 )
2000
34
Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. ( 10400133 )
1999
35
Effects of a low-dose L-carnitine supplement on an adult patient with mitochondrial trifunctional protein deficiency. ( 10086910 )
1999
36
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. ( 9739053 )
1998
37
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. ( 9305349 )
1997
38
Neonatal lethal mitochondrial trifunctional protein deficiency mimicking a respiratory chain defect. ( 9427156 )
1997
39
Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. ( 9259266 )
1997
40
Hypoparathyroidism in mitochondrial trifunctional protein deficiency. ( 8757579 )
1996
41
Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. ( 8651282 )
1996
42
Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele. ( 8865274 )
1996
43
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. ( 7738175 )
1995
44
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. ( 8163672 )
1994
45
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. ( 1445348 )
1992

Variations for Trifunctional Protein Deficiency

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

71 (show all 16)
id 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

ClinVar genetic disease variations for Trifunctional Protein Deficiency:

6 (show all 24)
id 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.1132C> T (p.Gln378Ter) single nucleotide variant Pathogenic rs137852770 GRCh37 Chromosome 2, 26427019: 26427019
3 HADHA NM_000182.4(HADHA): c.180+1G> A single nucleotide variant Pathogenic rs786205088 GRCh37 Chromosome 2, 26461801: 26461801
4 HADHA NM_000182.4(HADHA): c.180+3A> G single nucleotide variant Pathogenic rs781222705 GRCh37 Chromosome 2, 26461799: 26461799
5 HADHA NM_000182.4(HADHA): c.1678C> T (p.Arg560Ter) single nucleotide variant Pathogenic rs137852771 GRCh37 Chromosome 2, 26417450: 26417450
6 HADHA HADHA, 1-BP INS, 2129C insertion Pathogenic
7 HADHA NM_000182.4(HADHA): c.1025T> C (p.Leu342Pro) single nucleotide variant Pathogenic rs137852772 GRCh37 Chromosome 2, 26432709: 26432709
8 HADHA NM_000182.4(HADHA): c.845T> A (p.Val282Asp) single nucleotide variant Pathogenic rs137852773 GRCh37 Chromosome 2, 26437385: 26437385
9 HADHA NM_000182.4(HADHA): c.914T> A (p.Ile305Asn) single nucleotide variant Pathogenic/Likely pathogenic rs137852774 GRCh37 Chromosome 2, 26437316: 26437316
10 HADHA NM_000182.4(HADHA): c.871C> T (p.Arg291Ter) single nucleotide variant Pathogenic rs137852775 GRCh37 Chromosome 2, 26437359: 26437359
11 HADHB NM_000183.2(HADHB): c.788A> G (p.Asp263Gly) single nucleotide variant Pathogenic rs121913131 GRCh37 Chromosome 2, 26502160: 26502160
12 HADHB NM_000183.2(HADHB): c.182G> A (p.Arg61His) single nucleotide variant Pathogenic rs121913132 GRCh37 Chromosome 2, 26486320: 26486320
13 HADHB NM_000183.2(HADHB): c.740G> A (p.Arg247His) single nucleotide variant Pathogenic/Likely pathogenic rs121913133 GRCh37 Chromosome 2, 26502112: 26502112
14 HADHB NM_000183.2(HADHB): c.1331G> A (p.Arg444Lys) single nucleotide variant Pathogenic rs121913134 GRCh37 Chromosome 2, 26508381: 26508381
15 HADHB HADHB, 1-BP INS, 36-BP DEL indel Pathogenic
16 HADHB NM_000183.2(HADHB): c.1364T> G (p.Val455Gly) single nucleotide variant Pathogenic rs267606859 GRCh37 Chromosome 2, 26508414: 26508414
17 HADHA NM_000182.4(HADHA): c.157C> T (p.Arg53Ter) single nucleotide variant Pathogenic rs147103714 GRCh37 Chromosome 2, 26461825: 26461825
18 HADHA NM_000182.4(HADHA): c.274_278delTCATC (p.Ser92Lysfs) deletion Pathogenic/Likely pathogenic rs781205883 GRCh37 Chromosome 2, 26459759: 26459763
19 HADHB NM_000183.2(HADHB): c.1175C> T (p.Ala392Val) single nucleotide variant Pathogenic rs764623179 GRCh38 Chromosome 2, 26284908: 26284908
20 HADHA NM_000182.4(HADHA): c.919-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs200017313 GRCh37 Chromosome 2, 26435497: 26435497
21 HADHA NM_000182.4(HADHA): c.1918C> T (p.Gln640Ter) single nucleotide variant Pathogenic rs794727198 GRCh37 Chromosome 2, 26415261: 26415261
22 HADHA NM_000182.4(HADHA): c.2146+1G> A single nucleotide variant Pathogenic rs794727219 GRCh37 Chromosome 2, 26414351: 26414351
23 HADHB NM_000183.2(HADHB): c.209+1G> A single nucleotide variant Likely pathogenic rs113112630 GRCh37 Chromosome 2, 26486348: 26486348
24 HADHB NM_000183.2(HADHB): c.357dupT (p.Ala120Cysfs) duplication Pathogenic rs886037844 GRCh37 Chromosome 2, 26499943: 26499943

Expression for Trifunctional Protein Deficiency

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

Pathways for Trifunctional Protein Deficiency

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

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.86 EHHADH HADHA
2
Show member pathways
11.77 EHHADH HADHA
3 11.72 HADHA HADHB
4
Show member pathways
11.51 EHHADH HADHA HADHB
5
Show member pathways
11.31 HADHA HADHB
6
Show member pathways
11.3 EHHADH HADHA HADHB
7 11.25 EHHADH HADHA
8
Show member pathways
11.18 EHHADH HADHB
9
Show member pathways
11.11 HADHA HADHB
10
Show member pathways
10.98 EHHADH HADHA
11
Show member pathways
10.9 EHHADH HADHA
12
Show member pathways
10.86 EHHADH HADHA HADHB
13 10.83 EHHADH HADHA
14 9.91 EHHADH HADHA HADHB

GO Terms for Trifunctional Protein Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 EHHADH HADHA HADHB
2 mitochondrial nucleoid GO:0042645 8.62 HADHA HADHB

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

id 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 Trifunctional Protein Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.4 HADHA HADHB
2 lyase activity GO:0016829 9.37 EHHADH HADHA
3 acetyl-CoA C-acyltransferase activity GO:0003988 9.32 HADHA HADHB
4 long-chain-enoyl-CoA hydratase activity GO:0016508 9.26 EHHADH HADHA
5 long-chain-3-hydroxyacyl-CoA dehydrogenase activity GO:0016509 9.16 HADHA HADHB
6 enoyl-CoA hydratase activity GO:0004300 9.13 EHHADH HADHA HADHB
7 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 8.8 EHHADH HADHA HADHB

Sources for Trifunctional Protein Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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