{"Name":"Lethal infantile mitochondrial myopathy","DiseaseID__c":"GARD:0017226","id":17226,"encodedName":"lethal-infantile-mitochondrial-myopathy","IsDeleted":false,"Disease_Name_Full__c":"Lethal infantile mitochondrial myopathy","Xref_IDs__c":"766251006; C1838876; C564017; HP:0009069; MEDGEN:374077; MONDO:0010792; OMIM:551000; ORPHA:254857","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010792","Disease_Description__c":"Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.","GARD_Name__c":"Lethal infantile mitochondrial myopathy","GARD_Synonym__c":"infantile myopathy and lactic acidosis (fatal and non-fatal forms); lethal infantile mitochondrial disease; limd; limm","Curated_Disease_Description_Source__c":"MONDO:0010792","Curated_Disease_Description__c":"Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:254857","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010792","ORPHANET_ID__c":"ORPHA:254857","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía mitocondrial letal del lactante","Spanish_Description_Source__c":"ORPHA:254857","Spanish_Description__c":"La miopatía mitocondrial letal infantil, es un trastorno mitocondrial de la fosforilación oxidativa poco frecuente caracterizado por hipotonía generalizada progresiva, oftalmoplejía externa progresiva y acidosis láctica grave con un desenlace fatal (días a meses después del nacimiento). Los afectados pueden presentar letargia y arreflexia asociadas a otros hallazgos adicionales, tales como cardiomiopatía, disfunción renal, compromiso hepático y convulsiones.","Spanish_Disease_Name__c":"miopatía mitocondrial letal del lactante","Spanish_GARD_Synonym__c":"enfermedad mitocondrial letal del lactante; limd; limm","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":"Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.","Curated_Disease_Description_Source__c":"MONDO:0010792","GARD_Synonym__c":"infantile myopathy and lactic acidosis (fatal and non-fatal forms); lethal infantile mitochondrial disease; limd; limm","Name":"Lethal infantile mitochondrial myopathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:254857"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:254857"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1224","Source__c":"Gene Review","Xref__c":"NBK1224"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564017","Source__c":"MONDO:0010792","Xref__c":"C564017"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766251006","Source__c":"C1838876; MONDO:0010792","Xref__c":"766251006"},{"URL__c":"https://www.orpha.net/en/disease/detail/254857","Source__c":"C1838876; MONDO:0010792; ORPHA:254857","Xref__c":"ORPHA:254857"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1838876","Source__c":"C1838876","Xref__c":"C1838876"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374077","Source__c":"C1838876","Xref__c":"MEDGEN:374077"},{"URL__c":"https://www.omim.org/entry/551000","Source__c":"C1838876; MONDO:0010792; ORPHA:254857","Xref__c":"OMIM:551000"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0009069","Source__c":"C1838876","Xref__c":"HP:0009069"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010792","Source__c":"GARD:0017226","Xref__c":"MONDO:0010792"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MT-TT","Gene_Type__c":"non-coding RNA","Causal_Gene__c":true}],"Inheritance__c":["Mitochondrial inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:254857","HPO_Frequency__c":"Occasional (5-29%)","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:254857","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254857","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006583","HPO_Synonym__c":"Fatal liver failure in infancy","HPO_Name__c":"Fatal liver failure in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254857","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254857","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254857","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:254857","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008935","HPO_Synonym__c":"Generalized low muscle tone in neonate; Hypotonia, neonatal, generalized","HPO_Name__c":"Generalized neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254857","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000590","HPO_Synonym__c":"External ophthalmoplegia, progressive","HPO_Name__c":"Progressive external ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254857","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory difficulty as newborn.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002643","HPO_Synonym__c":"Infantile respiratory distress; Neonatal respiratory distress; Newborn respiratory distress; Respiratory distress, neonatal","HPO_Name__c":"Neonatal respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:254857","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe form of lactic acidemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004900","HPO_Name__c":"Severe lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:254857","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Pediatrics"],"Account":["Mitochondrial"]},"synonyms":["infantile myopathy and lactic acidosis (fatal and non-fatal forms)"," lethal infantile mitochondrial disease"," limd"," limm"]}