{"Name":"Carnosinemia","DiseaseID__c":"GARD:0006001","id":6001,"encodedName":"carnosinemia","IsDeleted":false,"Disease_Name_Full__c":"Carnosinemia","Xref_IDs__c":"410052008; C125661; C3495555; MEDGEN:501203; MONDO:0008921; OMIM:212200; ORPHA:1361","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008921","Disease_Description__c":"A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.","GARD_Name__c":"Carnosinemia","GARD_Synonym__c":"carnosinase deficiency","Curated_Disease_Description_Source__c":"MONDO:0008921","Curated_Disease_Description__c":"A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:1361","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008921","ORPHANET_ID__c":"ORPHA:1361","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de carnosinasa","Spanish_Description_Source__c":"ORPHA:1361","Spanish_Description__c":"Es un error congénito del metabolismo, poco frecuente, caracterizado por una reducción de la actividad de la carnosinasa sérica, carnosinuria persistente y carnosinemia. El fenotipo clínico es altamente variable: algunos pacientes permanecen asintomáticos, mientras que otros manifiestan un grave retraso del desarrollo psicomotor, discapacidad intelectual, hipotonía, crisis epilépticas y otros signos y síntomas neurológicos.","Spanish_Disease_Name__c":"deficiencia de carnosinasa","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":"A rare inborn error of metabolism characterized by low serum carnosinase activity, persistent carnosinuria, and carnosinemia. The clinical phenotype is highly variable, with some patients remaining asymptomatic, while others have been reported to show severe developmental delay, intellectual disability, hypotonia, seizures, and other neurological signs and symptoms.","Curated_Disease_Description_Source__c":"MONDO:0008921","GARD_Synonym__c":"carnosinase deficiency","Name":"Carnosinemia","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1361"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=410052008","Source__c":"C3495555; MONDO:0008921","Xref__c":"410052008"},{"URL__c":"https://www.omim.org/entry/212200","Source__c":"C3495555; MONDO:0008921; ORPHA:1361","Xref__c":"OMIM:212200"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125661","Source__c":"C3495555; MONDO:0008921","Xref__c":"C125661"},{"URL__c":"https://www.orpha.net/en/disease/detail/1361","Source__c":"C3495555; MONDO:0008921","Xref__c":"ORPHA:1361"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501203","Source__c":"C3495555","Xref__c":"MEDGEN:501203"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3495555","Source__c":"C3495555","Xref__c":"C3495555"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008921","Source__c":"GARD:0006001","Xref__c":"MONDO:0008921"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1361","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1361","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of carnosine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003167","HPO_Synonym__c":"High urine carnosine levels","HPO_Name__c":"Carnosinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1361","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002353","HPO_Synonym__c":"Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities","HPO_Name__c":"EEG abnormality","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:1361","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002123","HPO_Synonym__c":"Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures","HPO_Name__c":"Generalized myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1361","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["carnosinase deficiency"]}