{"Name":"Cardiomyopathy-hypotonia-lactic acidosis syndrome","DiseaseID__c":"GARD:0016795","id":16795,"encodedName":"cardiomyopathy-hypotonia-lactic-acidosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cardiomyopathy-hypotonia-lactic acidosis syndrome","Xref_IDs__c":"718713000; C1835845; C563665; MEDGEN:324373; MONDO:0012557; OMIM:610773; ORPHA:91130","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":1,"Description_Source__c":"MONDO:0012557","Disease_Description__c":"Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the <i>SLC25A3</i> gene encoding a mitochondrial membrane transporter.","GARD_Name__c":"Cardiomyopathy-hypotonia-lactic acidosis syndrome","GARD_Synonym__c":"hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome; mitochondrial phosphate carrier deficiency; mpcd","Curated_Disease_Description_Source__c":"ORPHA:91130","Curated_Disease_Description__c":"Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. The syndrome is caused by a homozygous point mutation in the exon 3A of the <i>SLC25A3</i> gene encoding a mitochondrial membrane transporter.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:91130","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012557","ORPHANET_ID__c":"ORPHA:91130","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de miocardiopatía-hipotonía-acidosis láctica","Spanish_Description_Source__c":"ORPHA:91130","Spanish_Description__c":"Es un síndrome caracterizado por miocardiopatía hipertrófica, hipotonía muscular y presencia de acidosis láctica al nacimiento. Se ha descrito en dos hermanas (ambas fallecieron en el primer año de vida) de una familia turca no consanguínea. El síndrome está causado por una mutación puntual homocigota en el exón 3A del gen <i>SLC25A3</i> que codifica para un transportador de la membrana mitocondrial.","Spanish_Disease_Name__c":"síndrome de miocardiopatía-hipotonía-acidosis láctica","Spanish_GARD_Synonym__c":null,"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":"Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. The syndrome is caused by a homozygous point mutation in the exon 3A of the <i>SLC25A3</i> gene encoding a mitochondrial membrane transporter.","Curated_Disease_Description_Source__c":"ORPHA:91130","GARD_Synonym__c":"hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome; mitochondrial phosphate carrier deficiency; mpcd","Name":"Cardiomyopathy-hypotonia-lactic acidosis syndrome","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":"Neonatal","Provided_By__c":"ORPHA:91130"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/610773","Source__c":"C1835845; MONDO:0012557; ORPHA:91130","Xref__c":"OMIM:610773"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835845","Source__c":"C1835845","Xref__c":"C1835845"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563665","Source__c":"MONDO:0012557","Xref__c":"C563665"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718713000","Source__c":"MONDO:0012557","Xref__c":"718713000"},{"URL__c":"https://www.orpha.net/en/disease/detail/91130","Source__c":"C1835845; MONDO:0012557","Xref__c":"ORPHA:91130"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=324373","Source__c":"C1835845","Xref__c":"MEDGEN:324373"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187515001","Source__c":"C1835845","Xref__c":"1187515001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012557","Source__c":"GARD:0016795","Xref__c":"MONDO:0012557"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC25A3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:91130","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009805","HPO_Name__c":"Low-output congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91130","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012103","HPO_Name__c":"Abnormality of the mitochondrion","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:91130","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91130","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91130","HPO_Frequency__c":"Very frequent (80-99%)","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:91130","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:91130","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:91130","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003128","HPO_Synonym__c":"Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis","HPO_Name__c":"Lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:91130","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:91130","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":"ORPHA:91130","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Cardiology","Pediatrics"],"Account":["Mitochondrial","Cardiomyopathy"]},"synonyms":["hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome"," mitochondrial phosphate carrier deficiency"," mpcd"]}