{"Name":"Tyrosinemia type III","DiseaseID__c":"GARD:0010332","id":10332,"encodedName":"tyrosinemia-type-iii","IsDeleted":false,"Disease_Name_Full__c":"Tyrosinemia type III","Xref_IDs__c":"415764005; C0268623; DOID:0050727; MEDGEN:78694; MONDO:0010162; OMIM:276710; ORPHA:69723","USA_Estimate__c":"1,000","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":"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":2,"Description_Source__c":"MONDO:0010162","Disease_Description__c":"A rare inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.","GARD_Name__c":"Tyrosinemia type III","GARD_Synonym__c":"4-alpha hydroxyphenylpyruvate dioxygenase deficiency; 4-alpha hydroxyphenylpyruvic acid oxidase deficiency; 4-hydroxyphenylpyruvate dioxygenase deficiency; 4-hydroxyphenylpyruvate hydroxylase deficiency; 4-hydroxyphenylpyruvic acid oxidase deficiency; hpd-gene related tyrosinemia type iii; tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency; tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency; tyrosinemia due to hpd deficiency; tyrosinemia type 3","Curated_Disease_Description_Source__c":"GARD:0010332","Curated_Disease_Description__c":"Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by genetic changes in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.","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:69723","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010162","ORPHANET_ID__c":"ORPHA:69723","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tirosinemia tipo 3","Spanish_Description_Source__c":"ORPHA:69723","Spanish_Description__c":"Es un error congénito del metabolismo de la tirosina poco frecuente caracterizado por hipertirosinemia leve y aumento de la excreción urinaria de 4-hidroxifenil-piruvato, 4-hidroxifenil-lactato y 4-hidroxifenil-acetato.","Spanish_Disease_Name__c":"tirosinemia tipo 3","Spanish_GARD_Synonym__c":"tirosinemia por deficiencia de 4-hidroxifenilpiruvato dioxigenasa; tirosinemia por deficiencia de hpd; tirosinemia por deficiencia de la oxidasa del ácido 4-hidroxifenilpiruvico; tirosinemia tipo iii","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":"Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by genetic changes in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0010332","GARD_Synonym__c":"4-alpha hydroxyphenylpyruvate dioxygenase deficiency; 4-alpha hydroxyphenylpyruvic acid oxidase deficiency; 4-hydroxyphenylpyruvate dioxygenase deficiency; 4-hydroxyphenylpyruvate hydroxylase deficiency; 4-hydroxyphenylpyruvic acid oxidase deficiency; hpd-gene related tyrosinemia type iii; tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency; tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency; tyrosinemia due to hpd deficiency; tyrosinemia type 3","Name":"Tyrosinemia type III","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neonatal","Provided_By__c":"ORPHA:69723"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:69723"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/TYR-III"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268623"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010332","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/69723","Source__c":"C0268623; MONDO:0010162; ORPHA:69723","Xref__c":"ORPHA:69723"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268623","Source__c":"C0268623","Xref__c":"C0268623"},{"URL__c":"https://www.omim.org/entry/276710","Source__c":"C0268623; MONDO:0010162; ORPHA:69723","Xref__c":"OMIM:276710"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050727","Source__c":"MONDO:0010162","Xref__c":"DOID:0050727"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78694","Source__c":"C0268623","Xref__c":"MEDGEN:78694"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=415764005","Source__c":"C0268623; MONDO:0010162","Xref__c":"415764005"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=413356003","Source__c":"C0268623","Xref__c":"413356003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010162","Source__c":"GARD:0010332","Xref__c":"MONDO:0010162"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HPD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hpd","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:276710","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of 4-hydroxyphenylacetic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003607","HPO_Synonym__c":"Elevated urine 4-hydroxyphenylacetic acid level","HPO_Name__c":"4-hydroxyphenylacetic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:276710","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:276710","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003161","HPO_Synonym__c":"Hydroxyphenylpyruvic aciduria","HPO_Name__c":"4-Hydroxyphenylpyruvic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:276710","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of tyrosine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003231","HPO_Synonym__c":"Increased tyrosine in blood; Tyrosinemia","HPO_Name__c":"Hypertyrosinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:276710","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:276710","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","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":["4-alpha hydroxyphenylpyruvate dioxygenase deficiency"," 4-alpha hydroxyphenylpyruvic acid oxidase deficiency"," 4-hydroxyphenylpyruvate dioxygenase deficiency"," 4-hydroxyphenylpyruvate hydroxylase deficiency"," 4-hydroxyphenylpyruvic acid oxidase deficiency"," hpd-gene related tyrosinemia type iii"," tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency"," tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency"," tyrosinemia due to hpd deficiency"," tyrosinemia type 3"]}