{"Name":"Tyrosinemia type I","DiseaseID__c":"GARD:0002658","id":2658,"encodedName":"tyrosinemia-type-i","IsDeleted":false,"Disease_Name_Full__c":"Tyrosinemia type I","Xref_IDs__c":"410056006; C0268490; C98641; DOID:0050726; MEDGEN:75688; MONDO:0010161; NBK1515; OMIM:276700; ORPHA:882","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010161","Disease_Description__c":"A rare inborn error of tyrosine catabolism characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.","GARD_Name__c":"Tyrosinemia type I","GARD_Synonym__c":"deficiency of beta-diketonase; deficiency of fumarylacetoacetase; fah deficiency; fah-gene related tyrosinemia type 1; fumarylacetoacetase deficiency; fumarylacetoacetate hydrolase deficiency; hepatorenal tyrosinemia; type i tyrosinemia; tyrosinemia type 1; tyrsn1","Curated_Disease_Description_Source__c":"GARD:0002658","Curated_Disease_Description__c":"Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This enzyme shortage is caused by genetic changes in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.","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:882","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010161","ORPHANET_ID__c":"ORPHA:882","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tirosinemia tipo 1","Spanish_Description_Source__c":"ORPHA:882","Spanish_Description__c":"Es un error congénito del catabolismo de la tirosina poco frecuente caracterizado por enfermedad hepática progresiva, disfunción tubular renal, crisis similares a la porfiria y una mejora dramática en el pronóstico después del tratamiento con nitisinona.","Spanish_Disease_Name__c":"tirosinemia tipo 1","Spanish_GARD_Synonym__c":"deficiencia de fah; deficiencia de fumarilacetoacetasa; deficiencia de fumarilacetoacetasa hidrolasa; tirosinemia hepatorrenal; tirosinemia tipo i","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 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This enzyme shortage is caused by genetic changes in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0002658","GARD_Synonym__c":"deficiency of beta-diketonase; deficiency of fumarylacetoacetase; fah deficiency; fah-gene related tyrosinemia type 1; fumarylacetoacetase deficiency; fumarylacetoacetate hydrolase deficiency; hepatorenal tyrosinemia; type i tyrosinemia; tyrosinemia type 1; tyrsn1","Name":"Tyrosinemia type I","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"flok","Website__c":"https://flok.org/"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal 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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:882"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/TYR-1"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268490"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002658","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1515","Source__c":"Gene Review","Xref__c":"NBK1515"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75688","Source__c":"C0268490","Xref__c":"MEDGEN:75688"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=410056006","Source__c":"C0268490; MONDO:0010161","Xref__c":"410056006"},{"URL__c":"https://www.orpha.net/en/disease/detail/882","Source__c":"C0268490; MONDO:0010161; ORPHA:882","Xref__c":"ORPHA:882"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268490","Source__c":"C0268490","Xref__c":"C0268490"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050726","Source__c":"MONDO:0010161","Xref__c":"DOID:0050726"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C98641","Source__c":"C0268490; MONDO:0010161","Xref__c":"C98641"},{"URL__c":"https://www.omim.org/entry/276700","Source__c":"C0268490; MONDO:0010161; ORPHA:882","Xref__c":"OMIM:276700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124536006","Source__c":"C0268490","Xref__c":"124536006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010161","Source__c":"GARD:0002658","Xref__c":"MONDO:0010161"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FAH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fah","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006554","HPO_Synonym__c":"Acute liver failure","HPO_Name__c":"Acute hepatic failure","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:882","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of all types of amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002909","HPO_Synonym__c":"Generalized nonspecific aminoaciduria","HPO_Name__c":"Generalized aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006463","HPO_Name__c":"Rickets of the lower limbs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:882","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Neurology","Nephrology","Gastroenterology","Pediatrics"],"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Nephrology","Gastroenterology","Inborn Errors of Metabolism"],"Account":["Nephrology","Peripheral Neuropathy"]},"synonyms":["deficiency of beta-diketonase"," deficiency of fumarylacetoacetase"," fah deficiency"," fah-gene related tyrosinemia type 1"," fumarylacetoacetase deficiency"," fumarylacetoacetate hydrolase deficiency"," hepatorenal tyrosinemia"," type i tyrosinemia"," tyrosinemia type 1"," tyrsn1"]}