{"Name":"Renal carnitine transport defect","DiseaseID__c":"GARD:0005104","id":5104,"encodedName":"renal-carnitine-transport-defect","IsDeleted":false,"Disease_Name_Full__c":"Renal carnitine transport defect","Xref_IDs__c":"21764004; C0342788; C536778; C98864; DOID:14365; E71.41; MEDGEN:90999; MONDO:0008919; OMIM:212140; ORPHA:158","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":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008919","Disease_Description__c":"A rare disorder of carnitine cycle and carnitine transport that is characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.","GARD_Name__c":"Renal carnitine transport defect","GARD_Synonym__c":"carnitine deficiency; carnitine deficiency, systemic; carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; carnitine transporter defect; carnitine transporter deficiency; carnitine transporter, plasma-membrane, deficiency of; carnitine uptake defect; carnitine uptake deficiency; cdsp; cud; deficiency of plasma-membrane carnitine transporter; primary carnitine deficiency; slc22a5-gene related renal carnitine transport defect; spcd; systemic carnitine deficiency; systemic primary carnitine deficiency; systemic primary carnitine deficiency disease","Curated_Disease_Description_Source__c":"GARD:0005104","Curated_Disease_Description__c":"Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through food, is used by cells to process fats and produce energy. Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), vomiting, muscle weakness, and low blood glucose (hypoglycemia). The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for sudden death. Problems related to primary carnitine 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 who appear to be recovering from viral infections such as chickenpox or flu.","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:158","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008919","ORPHANET_ID__c":"ORPHA:158","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia sistémica primaria de carnitina","Spanish_Description_Source__c":"ORPHA:158","Spanish_Description__c":"Es un trastorno poco frecuente del ciclo y del transporte de la carnitina caracterizado clásicamente por una miocardiopatía de aparición en la primera infancia, a menudo asociada a debilidad e hipotonía, fallo de medro y convulsiones o coma hipoglucémico hipocetósico recurrente.","Spanish_Disease_Name__c":"deficiencia sistémica primaria de carnitina","Spanish_GARD_Synonym__c":"cdsp; cud; defecto del transportador de carnitina; defecto del transportador de carnitina de la membrana plasmática; deficiencia de captación de carnitina; spcd","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":"Primary carnitine deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through food, is used by cells to process fats and produce energy. Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), vomiting, muscle weakness, and low blood glucose (hypoglycemia). The severity of this condition varies among affected individuals. Some people with primary carnitine deficiency are asymptomatic, which means they do not have any signs or symptoms of the condition. All individuals with this disorder are at risk for sudden death. Problems related to primary carnitine 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 who appear to be recovering from viral infections such as chickenpox or flu.","Curated_Disease_Description_Source__c":"GARD:0005104","GARD_Synonym__c":"carnitine deficiency; carnitine deficiency, systemic; carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; carnitine transporter defect; carnitine transporter deficiency; carnitine transporter, plasma-membrane, deficiency of; carnitine uptake defect; carnitine uptake deficiency; cdsp; cud; deficiency of plasma-membrane carnitine transporter; primary carnitine deficiency; slc22a5-gene related renal carnitine transport defect; spcd; systemic carnitine deficiency; systemic primary carnitine deficiency; systemic primary carnitine deficiency disease","Name":"Renal carnitine transport defect","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"MitoAction","Website__c":"https://www.mitoaction.org/"},{"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":"United Mitochondrial Disease Foundation","Website__c":"https://www.umdf.org"},{"Account_Name__c":"Hypertrophic Cardiomyopathy Association","Website__c":"https://www.4hcm.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":"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:158"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:158"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CUD-mat"},{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CUD"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0342788"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005104","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK84551","Source__c":"Gene Review","Xref__c":"NBK84551"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342788","Source__c":"C0342788","Xref__c":"C0342788"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=21764004","Source__c":"C0342788; MONDO:0008919","Xref__c":"21764004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14365","Source__c":"MONDO:0008919","Xref__c":"DOID:14365"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98864","Source__c":"C0342788; MONDO:0008919","Xref__c":"C98864"},{"URL__c":"https://www.orpha.net/en/disease/detail/158","Source__c":"C0342788; MONDO:0008919; ORPHA:158","Xref__c":"ORPHA:158"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536778","Source__c":"MONDO:0008919","Xref__c":"C536778"},{"URL__c":"https://www.omim.org/entry/212140","Source__c":"C0342788; MONDO:0008919; ORPHA:158","Xref__c":"OMIM:212140"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90999","Source__c":"C0342788","Xref__c":"MEDGEN:90999"},{"URL__c":"https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency","Source__c":"GARD:0005104","Xref__c":"https://medlineplus.gov/genetics/condition/primary-carnitine-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008919","Source__c":"GARD:0005104","Xref__c":"MONDO:0008919"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E71.41","Source__c":"MONDO:0008919","Xref__c":"E71.41"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC22A5","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc22a5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002312","HPO_Synonym__c":"Clumsiness","HPO_Name__c":"Clumsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007334","HPO_Synonym__c":"Focal seizure with secondary generalization; Focal to bilateral tonic-clonic seizure; Generalised tonic-clonic seizure with focal onset; Generalised tonic-clonic seizure with partial onset; Generalized tonic-clonic seizure with focal onset; Generalized tonic-clonic seizure with partial onset; Generalized tonic-clonic seizures with focal onset; Partial seizure with secondary generalization; Partial seizures with secondary generalization; Secondarily generalized tonic-clonic seizure; Secondarily generalized tonic-clonic seizures; Secondary generalized tonic clonic seizures; Secondary generalized tonic-clonic seizures","HPO_Name__c":"Bilateral tonic-clonic seizure with focal onset","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of clarity and coherence of thought, perception, understanding, or action.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001289","HPO_Synonym__c":"Confusion; Disorientation; Easily confused; Mental disorientation","HPO_Name__c":"Confusion","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased strength of the neck musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000467","HPO_Synonym__c":"Floppy neck; Neck muscle weakness","HPO_Name__c":"Neck muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006846","HPO_Name__c":"Acute encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:158","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Cardiology","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["carnitine deficiency"," carnitine deficiency, systemic"," carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine"," carnitine transporter defect"," carnitine transporter deficiency"," carnitine transporter, plasma-membrane, deficiency of"," carnitine uptake defect"," carnitine uptake deficiency"," cdsp"," cud"," deficiency of plasma-membrane carnitine transporter"," primary carnitine deficiency"," slc22a5-gene related renal carnitine transport defect"," spcd"," systemic carnitine deficiency"," systemic primary carnitine deficiency"," systemic primary carnitine deficiency disease"]}