{"Name":"Mitochondrial trifunctional protein deficiency","DiseaseID__c":"GARD:0003684","id":3684,"encodedName":"mitochondrial-trifunctional-protein-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Mitochondrial trifunctional protein deficiency","Xref_IDs__c":"237999008; C1969443; C566945; C98991; DOID:0111277; MEDGEN:370665; MONDO:0012172; OMIMPS:609015; ORPHA:746","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012172","Disease_Description__c":"A rare 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..","GARD_Name__c":"Mitochondrial trifunctional protein deficiency","GARD_Synonym__c":"human trifunctional protein deficiency; tfp deficiency; tfpd; trifunctional enzyme deficiency; trifunctional protein deficiency","Curated_Disease_Description_Source__c":"MONDO:0012172","Curated_Disease_Description__c":"Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood glucose (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy). Problems related to mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:746","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0012172","ORPHANET_ID__c":"ORPHA:746","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de proteína trifuncional mitocondrial","Spanish_Description_Source__c":"ORPHA:746","Spanish_Description__c":"Es una alteración de la oxidación de los ácidos grasos caracterizada por un amplio espectro clínico que va desde manifestaciones neonatales graves como la miocardiopatía, la hipoglucemia, la acidosis metabólica, la miopatía esquelética y la neuropatía, la hepatopatía y la muerte, hasta un fenotipo leve con polineuropatía periférica, rabdomiólisis y retinopatía pigmentaria.","Spanish_Disease_Name__c":"deficiencia de proteína trifuncional mitocondrial","Spanish_GARD_Synonym__c":"deficiencia de tfp; tfpd","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood glucose (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy). Problems related to mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.","Curated_Disease_Description_Source__c":"MONDO:0012172","GARD_Synonym__c":"human trifunctional protein deficiency; tfp deficiency; tfpd; trifunctional enzyme deficiency; trifunctional protein deficiency","Name":"Mitochondrial trifunctional protein deficiency","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"FOD (Fatty Oxidation Disorder) Family Support Group","Website__c":"https://fodsupport.org/"},{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:746"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:746"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/TFP"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0949658"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003684","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK583531","Source__c":"Gene Review","Xref__c":"NBK583531"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111277","Source__c":"MONDO:0012172","Xref__c":"DOID:0111277"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237999008","Source__c":"C1969443; MONDO:0012172","Xref__c":"237999008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1969443","Source__c":"C1969443","Xref__c":"C1969443"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=370665","Source__c":"C1969443","Xref__c":"MEDGEN:370665"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS609015","Source__c":"MONDO:0012172","Xref__c":"OMIMPS:609015"},{"URL__c":"https://www.orpha.net/en/disease/detail/746","Source__c":"C1969443; MONDO:0012172; ORPHA:746","Xref__c":"ORPHA:746"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566945","Source__c":"MONDO:0012172","Xref__c":"C566945"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98991","Source__c":"C1969443; MONDO:0012172","Xref__c":"C98991"},{"URL__c":"https://medlineplus.gov/genetics/condition/mitochondrial-trifunctional-protein-deficiency","Source__c":"GARD:0003684","Xref__c":"https://medlineplus.gov/genetics/condition/mitochondrial-trifunctional-protein-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012172","Source__c":"GARD:0003684","Xref__c":"MONDO:0012172"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HADHB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hadhb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HADHA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hadha","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001638","HPO_Synonym__c":"Disease of the heart muscle","HPO_Name__c":"Cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003201","HPO_Synonym__c":"Breakdown of skeletal muscle","HPO_Name__c":"Rhabdomyolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030051","HPO_Synonym__c":"Tiptoe gait; Toe walking; Walking on tiptoes","HPO_Name__c":"Tip-toe gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001653","HPO_Synonym__c":"Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation","HPO_Name__c":"Mitral regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; Muscle spasms","HPO_Name__c":"Muscle spasm","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001259","HPO_Synonym__c":"Coma; Persistent vegetative state; Stupor; Unconsciousness","HPO_Name__c":"Coma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of bile flow due to obstruction in bile ducts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001396","HPO_Synonym__c":"Slowed or blocked flow of bile from liver","HPO_Name__c":"Cholestasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002901","HPO_Synonym__c":"Hypocalcaemia; Low blood calcium levels","HPO_Name__c":"Hypocalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100626","HPO_Synonym__c":"Chronic liver failure","HPO_Name__c":"Chronic hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001985","HPO_Synonym__c":"Hypoglycemia, hypoketotic","HPO_Name__c":"Hypoketotic hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002033","HPO_Synonym__c":"Poor suck; Poor sucking; Sucking weakness","HPO_Name__c":"Poor suck","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008138","HPO_Synonym__c":"Equinus deformity of the calcaneus; Hindfoot equinus","HPO_Name__c":"Equinus calcaneus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; 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The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025145","HPO_Name__c":"Rigors","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to climb stairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003551","HPO_Synonym__c":"Difficulty walking up stairs","HPO_Name__c":"Difficulty climbing stairs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000829","HPO_Synonym__c":"Decreased parathyroid hormone secretion; Low parathyroid hormone","HPO_Name__c":"Hypoparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002476","HPO_Synonym__c":"Archaic reflex; Primitive reflexes","HPO_Name__c":"Primitive reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased intensity of the patellar reflex (also known as the knee jerk reflex).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011808","HPO_Synonym__c":"Decreased knee jerk reflex; Decreased patellar reflexes","HPO_Name__c":"Decreased patellar reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003756","HPO_Name__c":"Skeletal myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005180","HPO_Synonym__c":"Tricuspid insufficiency; Tricuspid valve regurgitation","HPO_Name__c":"Tricuspid regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A diffuse form of hepatic steatosis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006555","HPO_Synonym__c":"Hepatic steatosis, diffuse","HPO_Name__c":"Diffuse hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:746","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Progressively reduced strength of the distal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009063","HPO_Synonym__c":"Muscle weakness, distal, progressive; Muscle weakness, progressive, distal","HPO_Name__c":"Progressive distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial","Peripheral Neuropathy","Cardiomyopathy"]},"synonyms":["human trifunctional protein deficiency"," tfp deficiency"," tfpd"," trifunctional enzyme deficiency"," trifunctional protein deficiency"]}