{"Name":"Cystathioninuria","DiseaseID__c":"GARD:0002428","id":2428,"encodedName":"cystathioninuria","IsDeleted":false,"Disease_Name_Full__c":"Cystathioninuria","Xref_IDs__c":"13003007; C0220993; C129070; DOID:0090142; HP:0003153; MEDGEN:66353; MONDO:0009058; OMIM:219500; ORPHA:212","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009058","Disease_Description__c":"A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.","GARD_Name__c":"Cystathioninuria","GARD_Synonym__c":"cth - cystathioninuria; cystathionase deficiency; cystathione gamma-lyase deficiency syndrome; cystathionine gamma-lyase deficiency syndrome; cystathioninuria (disease); gamma-cystathionase deficiency; high urine cystathionine levels","Curated_Disease_Description_Source__c":"MONDO:0009058","Curated_Disease_Description__c":"A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:212","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009058","ORPHANET_ID__c":"ORPHA:212","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Cistationinuria","Spanish_Description_Source__c":"ORPHA:212","Spanish_Description__c":"Es un error congénito del metabolismo poco frecuente caracterizado por un acúmulo anómalo de cistationina plasmática con el posterior aumento en la excreción urinaria debido a la deficiencia de cistationina gamma-liasa. El trastorno se considera benigno y sin relevancia patológica. El modo de herencia es autosómico recesivo.","Spanish_Disease_Name__c":"cistationinuria","Spanish_GARD_Synonym__c":"deficiencia de cistationasa; deficiencia de cistationina gamma-liasa; deficiencia de gamma-cistationasa","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 abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.","Curated_Disease_Description_Source__c":"MONDO:0009058","GARD_Synonym__c":"cth - cystathioninuria; cystathionase deficiency; cystathione gamma-lyase deficiency syndrome; cystathionine gamma-lyase deficiency syndrome; cystathioninuria (disease); gamma-cystathionase deficiency; high urine cystathionine levels","Name":"Cystathioninuria","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"All ages","Provided_By__c":"ORPHA:212"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0220993"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3495552"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002428","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/212","Source__c":"C0220993; MONDO:0009058; ORPHA:212","Xref__c":"ORPHA:212"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129070","Source__c":"C0220993; MONDO:0009058","Xref__c":"C129070"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=66353","Source__c":"C0220993","Xref__c":"MEDGEN:66353"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220993","Source__c":"C0220993","Xref__c":"C0220993"},{"URL__c":"https://www.omim.org/entry/219500","Source__c":"C0220993; MONDO:0009058; ORPHA:212","Xref__c":"OMIM:219500"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090142","Source__c":"MONDO:0009058","Xref__c":"DOID:0090142"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=13003007","Source__c":"C0220993; MONDO:0009058","Xref__c":"13003007"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003153","Source__c":"C0220993","Xref__c":"HP:0003153"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009058","Source__c":"GARD:0002428","Xref__c":"MONDO:0009058"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTH","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:212","HPO_Frequency__c":"Frequent (30-79%)","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:212","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:212","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of cystathionine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003286","HPO_Synonym__c":"High blood cystathionine levels","HPO_Name__c":"Cystathioninemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:212","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An elevated urinary concentration of cystathionine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003153","HPO_Synonym__c":"High urine cystathionine levels","HPO_Name__c":"Cystathioninuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:212","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["cth - cystathioninuria"," cystathionase deficiency"," cystathione gamma-lyase deficiency syndrome"," cystathionine gamma-lyase deficiency syndrome"," cystathioninuria (disease)"," gamma-cystathionase deficiency"," high urine cystathionine levels"]}