{"Name":"Urocanate hydratase deficiency","DiseaseID__c":"GARD:0008539","id":8539,"encodedName":"urocanate-hydratase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Urocanate hydratase deficiency","Xref_IDs__c":"60952007; C0268514; C536479; DOID:0112180; MEDGEN:120644; MONDO:0010167; OMIM:276880; ORPHA:210128","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010167","Disease_Description__c":"A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.","GARD_Name__c":"Urocanate hydratase deficiency","GARD_Synonym__c":"encephalopathy due to urocanase deficiency; high urine urocanic acid levels; urocanase deficiency; urocanic aciduria; urocanic aciduria (disease); urocd","Curated_Disease_Description_Source__c":"MONDO:0010167","Curated_Disease_Description__c":"A rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:210128","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010167","ORPHANET_ID__c":"ORPHA:210128","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aciduria urocánica","Spanish_Description_Source__c":"ORPHA:210128","Spanish_Description__c":"La encefalopatía por déficit de urocanasa es un trastorno del metabolismo de la histidina, extremadamente poco frecuente, que se caracteriza por aciduria urocánica y otras manifestaciones que incluyen déficit intelectual y ataxia intermitente en los 4 casos descritos hasta la fecha.","Spanish_Disease_Name__c":"aciduria urocánica","Spanish_GARD_Synonym__c":"encefalopatía por deficiencia de urocanasa","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 histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia.","Curated_Disease_Description_Source__c":"MONDO:0010167","GARD_Synonym__c":"encephalopathy due to urocanase deficiency; high urine urocanic acid levels; urocanase deficiency; urocanic aciduria; urocanic aciduria (disease); urocd","Name":"Urocanate hydratase deficiency","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:210128"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:210128"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268514"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008539","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112180","Source__c":"MONDO:0010167","Xref__c":"DOID:0112180"},{"URL__c":"https://www.orpha.net/en/disease/detail/210128","Source__c":"C0268514; MONDO:0010167; ORPHA:210128","Xref__c":"ORPHA:210128"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536479","Source__c":"MONDO:0010167","Xref__c":"C536479"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268514","Source__c":"C0268514","Xref__c":"C0268514"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=60952007","Source__c":"C0268514; MONDO:0010167","Xref__c":"60952007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120644","Source__c":"C0268514","Xref__c":"MEDGEN:120644"},{"URL__c":"https://www.omim.org/entry/276880","Source__c":"C0268514; MONDO:0010167; ORPHA:210128","Xref__c":"OMIM:276880"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010167","Source__c":"GARD:0008539","Xref__c":"MONDO:0010167"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012237","Source__c":"C0268514","Xref__c":"HP:0012237"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UROC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of urocanic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012237","HPO_Synonym__c":"High urine urocanic acid levels","HPO_Name__c":"Urocanic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002136","HPO_Synonym__c":"Broad based gait; Wide based gait; Wide based walk; Wide-based gait","HPO_Name__c":"Broad-based gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Horizontal nystagmus made apparent by looking to the right or to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007979","HPO_Synonym__c":"Nystagmus, horizontal, gaze-evoked","HPO_Name__c":"Gaze-evoked horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of a histidine metabolic process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010904","HPO_Synonym__c":"Abnormality of histidine metabolism","HPO_Name__c":"Abnormal circulating histidine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006801","HPO_Name__c":"Hyperactive deep tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002078","HPO_Synonym__c":"Instability or lack of coordination of central trunk muscles; Trunk ataxia","HPO_Name__c":"Truncal ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002345","HPO_Name__c":"Action tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:210128","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","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"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["encephalopathy due to urocanase deficiency"," high urine urocanic acid levels"," urocanase deficiency"," urocanic aciduria"," urocanic aciduria (disease)"," urocd"]}