{"Name":"Seizures-intellectual disability due to hydroxylysinuria syndrome","DiseaseID__c":"GARD:0016709","id":16709,"encodedName":"seizures-intellectual-disability-due-to-hydroxylysinuria-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Seizures-intellectual disability due to hydroxylysinuria syndrome","Xref_IDs__c":"C1855986; C565502; MEDGEN:343450; MONDO:0009373; OMIM:236900; ORPHA:79156","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009373","Disease_Description__c":"A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.","GARD_Name__c":"Seizures-intellectual disability due to hydroxylysinuria syndrome","GARD_Synonym__c":"hydroxylysine high in urine; hydroxylysinuria","Curated_Disease_Description_Source__c":"ORPHA:79156","Curated_Disease_Description__c":"A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:79156","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009373","ORPHANET_ID__c":"ORPHA:79156","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de crisis-discapacidad intelectual por hidroxilsinuria","Spanish_Description_Source__c":"ORPHA:79156","Spanish_Description__c":"Es un error congénito del metabolismo poco frecuente caracterizado por el inicio en la lactancia de retraso global del desarrollo, grave discapacidad intelectual, crisis epilépticas y trastornos del movimiento (como temblores, hipercinesia y mioclonías), asociados a una excreción urinaria excesiva de hidroxilisina. No ha habido más casos descritos en la literatura desde 1970.","Spanish_Disease_Name__c":"síndrome de crisis-discapacidad intelectual por hidroxilsinuria","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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 infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine.","Curated_Disease_Description_Source__c":"ORPHA:79156","GARD_Synonym__c":"hydroxylysine high in urine; hydroxylysinuria","Name":"Seizures-intellectual disability due to hydroxylysinuria 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":"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:79156"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/236900","Source__c":"C1855986; MONDO:0009373; ORPHA:79156","Xref__c":"OMIM:236900"},{"URL__c":"https://www.orpha.net/en/disease/detail/79156","Source__c":"C1855986; MONDO:0009373","Xref__c":"ORPHA:79156"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=343450","Source__c":"C1855986","Xref__c":"MEDGEN:343450"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855986","Source__c":"C1855986","Xref__c":"C1855986"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565502","Source__c":"MONDO:0009373","Xref__c":"C565502"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009373","Source__c":"GARD:0016709","Xref__c":"MONDO:0009373"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0032414","Source__c":"C1855986","Xref__c":"HP:0032414"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79156","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79156","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"}},{"Provided_By__c":"ORPHA:79156","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["hydroxylysine high in urine"," hydroxylysinuria"]}