{"Name":"Familial hypertryptophanemia","DiseaseID__c":"GARD:0002871","id":2871,"encodedName":"familial-hypertryptophanemia","IsDeleted":false,"Disease_Name_Full__c":"Familial hypertryptophanemia","Xref_IDs__c":"721838005; C2931837; C538393; DOID:0111703; MEDGEN:419177; MONDO:0010907; OMIM:600627; ORPHA:2224","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":3,"Description_Source__c":"MONDO:0010907","Disease_Description__c":"A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association.","GARD_Name__c":"Familial hypertryptophanemia","GARD_Synonym__c":"hypertryptophanemia","Curated_Disease_Description_Source__c":"GARD:0002871","Curated_Disease_Description__c":"Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of Hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:2224","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010907","ORPHANET_ID__c":"ORPHA:2224","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertriptofanemia familiar","Spanish_Description_Source__c":"ORPHA:2224","Spanish_Description__c":"Es un error congénito del metabolismo, poco frecuente, caracterizado por hipertriptofanemia e hiperserotonemia congénitas. Los pacientes suelen permanecer asintomáticos, aunque se ha descrito la asociación con retraso psicomotor, discapacidad intelectual y trastornos de la conducta, entre otros.","Spanish_Disease_Name__c":"hipertriptofanemia familiar","Spanish_GARD_Synonym__c":null,"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":"Hypertryptophanemia is a rare condition that likely occurs due to abnormalities in the body's ability to process the amino acid (a building block of proteins), tryptophan. People affected by this condition may experience intellectual disability and behavioral problems (i.e. periodic mood swings, exaggerated emotional responses and abnormal sexual behavior). The underlying genetic cause of Hypertryptophanemia is currently unknown; however, it appears to be inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0002871","GARD_Synonym__c":"hypertryptophanemia","Name":"Familial hypertryptophanemia","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:2224"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2224"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2224"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002871","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111703","Source__c":"MONDO:0010907","Xref__c":"DOID:0111703"},{"URL__c":"https://www.orpha.net/en/disease/detail/2224","Source__c":"C2931837; MONDO:0010907; ORPHA:2224","Xref__c":"ORPHA:2224"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=721838005","Source__c":"C2931837; MONDO:0010907","Xref__c":"721838005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538393","Source__c":"MONDO:0010907","Xref__c":"C538393"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419177","Source__c":"C2931837","Xref__c":"MEDGEN:419177"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931837","Source__c":"C2931837","Xref__c":"C2931837"},{"URL__c":"https://www.omim.org/entry/600627","Source__c":"C2931837; MONDO:0010907; ORPHA:2224","Xref__c":"OMIM:600627"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010907","Source__c":"GARD:0002871","Xref__c":"MONDO:0010907"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TDO2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2224","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A increased concentration of serotonin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003144","HPO_Synonym__c":"Increased serum serotonin","HPO_Name__c":"Increased serum serotonin","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2224","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of tryptophan in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500134","HPO_Synonym__c":"High blood tryptophan concentration; Increased tryptophan in blood","HPO_Name__c":"Hypertryptophanemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2224","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of tryptophan in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003361","HPO_Synonym__c":"High urine tryptophan levels","HPO_Name__c":"Tryptophanuria","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["hypertryptophanemia"]}