{"Name":"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency","DiseaseID__c":"GARD:0012892","id":12892,"encodedName":"infantile-hypertrophic-cardiomyopathy-due-to-mrpl44-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency","Xref_IDs__c":"C3809339; DOID:0111469; MEDGEN:815669; MONDO:0014162; OMIM:615395; ORPHA:352563","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0014162","Disease_Description__c":"A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.","GARD_Name__c":"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency","GARD_Synonym__c":"combined oxidative phosphorylation defect type 16; combined oxidative phosphorylation deficiency 16; combined oxidative phosphorylation deficiency caused by mutation in mrpl44; combined oxidative phosphorylation deficiency type 16; coxpd16; mrpl44 combined oxidative phosphorylation deficiency","Curated_Disease_Description_Source__c":"GARD:0012892","Curated_Disease_Description__c":"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is characterized by decreased levels of mitochondrial complexes. The symptoms and signs described include an enlarged heart muscle (hypertrophic cardiomyopathy) and fatty liver (hepatic steatosis), as well as eye problems, headache, paralysis of one side of the body, Leigh-like lesions on brain magnetic resonance imaging (MRI), kidney insufficiency and neurological disease. It is caused by genetic changes in the  MRPL44 gene, which results in mitochondrial dysfunction. The cases described seem to be inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:352563","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014162","ORPHANET_ID__c":"ORPHA:352563","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miocardiopatía hipertrófica infantil por deficiencia de mrpl44","Spanish_Description_Source__c":"ORPHA:352563","Spanish_Description__c":"Es un trastorno de la fosforilación oxidativa mitocondrial poco frecuente por deficiencia de los complejos I y IV. Está caracterizada por miocardiopatía hipertrófica, esteatosis hepática con transaminasas hepáticas elevadas, intolerancia al ejercicio y debilidad muscular. También se han descrito, en edades más tardías, rasgos de afectación neuro-oftalmológica (migraña hemipléjica, lesiones similares al síndrome de Leigh en imágenes de resonancia magnética cerebral y retinopatía pigmentaria).","Spanish_Disease_Name__c":"miocardiopatía hipertrófica infantil por deficiencia de mrpl44","Spanish_GARD_Synonym__c":"coxpd16; deficiencia combinada de la fosforilación oxidativa tipo 16","Category_Linearization__c":"ORPHA:97929","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":"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is characterized by decreased levels of mitochondrial complexes. The symptoms and signs described include an enlarged heart muscle (hypertrophic cardiomyopathy) and fatty liver (hepatic steatosis), as well as eye problems, headache, paralysis of one side of the body, Leigh-like lesions on brain magnetic resonance imaging (MRI), kidney insufficiency and neurological disease. It is caused by genetic changes in the  MRPL44 gene, which results in mitochondrial dysfunction. The cases described seem to be inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0012892","GARD_Synonym__c":"combined oxidative phosphorylation defect type 16; combined oxidative phosphorylation deficiency 16; combined oxidative phosphorylation deficiency caused by mutation in mrpl44; combined oxidative phosphorylation deficiency type 16; coxpd16; mrpl44 combined oxidative phosphorylation deficiency","Name":"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:352563"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:352563"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3809339"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012892","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/352563","Source__c":"C3809339; MONDO:0014162","Xref__c":"ORPHA:352563"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=815669","Source__c":"C3809339","Xref__c":"MEDGEN:815669"},{"URL__c":"https://www.omim.org/entry/615395","Source__c":"C3809339; MONDO:0014162; ORPHA:352563","Xref__c":"OMIM:615395"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3809339","Source__c":"C3809339","Xref__c":"C3809339"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111469","Source__c":"MONDO:0014162","Xref__c":"DOID:0111469"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014162","Source__c":"GARD:0012892","Xref__c":"MONDO:0014162"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MRPL44","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001414","HPO_Synonym__c":"Microvesicular steatosis","HPO_Name__c":"Microvesicular hepatic steatosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615395","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001639","HPO_Synonym__c":"Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM","HPO_Name__c":"Hypertrophic cardiomyopathy","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615395","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031956","HPO_Synonym__c":"Aspartate aminotransferase increased; Elevated serum aspartate aminotransferase; Elevated serum AST; Elevated serum glutamic oxaloacetic transaminase","HPO_Name__c":"Elevated circulating aspartate aminotransferase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615395","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002151","HPO_Synonym__c":"Increased blood lactate; Increased serum lactate","HPO_Name__c":"Increased circulating lactate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615395","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003688","HPO_Synonym__c":"Cytochrome c oxidase deficiency in skeletal muscle; Decreased activity of cytochrome C oxidase in muscle tissue; Decreased skeletal muscle cytochrome c oxidase activity","HPO_Name__c":"Cytochrome C oxidase-negative muscle fibers","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615395","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high concentration in the circulation of alanine aminotransferase (ALT).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031964","HPO_Synonym__c":"Alanine aminotransferase increased; Elevated serum alanine aminotransferase; Elevated serum ALT; Elevated serum glutamic-pyruvic transaminase","HPO_Name__c":"Elevated circulating alanine aminotransferase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Cardiology","Pediatrics"],"Account":["Mitochondrial","Cardiomyopathy"]},"synonyms":["combined oxidative phosphorylation defect type 16"," combined oxidative phosphorylation deficiency 16"," combined oxidative phosphorylation deficiency caused by mutation in mrpl44"," combined oxidative phosphorylation deficiency type 16"," coxpd16"," mrpl44 combined oxidative phosphorylation deficiency"]}