{"Name":"GTP cyclohydrolase I deficiency with hyperphenylalaninemia","DiseaseID__c":"GARD:0002844","id":2844,"encodedName":"gtp-cyclohydrolase-i-deficiency-with-hyperphenylalaninemia","IsDeleted":false,"Disease_Name_Full__c":"GTP cyclohydrolase I deficiency with hyperphenylalaninemia","Xref_IDs__c":"23447005; C141442; CN305333; DOID:0112225; MEDGEN:988270; MONDO:0100186; ORPHA:2102","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:2102","Disease_Description__c":"GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.","GARD_Name__c":"GTP cyclohydrolase I deficiency with hyperphenylalaninemia","GARD_Synonym__c":"gtpch deficiency; hpabh4b; hyperphenylalaninemia due to gtp cyclohydrolase deficiency; hyperphenylalaninemia, bh4-deficient, b; hyperphenylalaninemia, bh4-deficient, type b; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency","Curated_Disease_Description_Source__c":"ORPHA:2102","Curated_Disease_Description__c":"GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.","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:2102","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100186","ORPHANET_ID__c":"ORPHA:2102","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de gtp-ciclohidrolasa i","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de gtp-ciclohidrolasa i","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":"GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.","Curated_Disease_Description_Source__c":"ORPHA:2102","GARD_Synonym__c":"gtpch deficiency; hpabh4b; hyperphenylalaninemia due to gtp cyclohydrolase deficiency; hyperphenylalaninemia, bh4-deficient, b; hyperphenylalaninemia, bh4-deficient, type b; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency","Name":"GTP cyclohydrolase I deficiency with hyperphenylalaninemia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pediatric Neurotransmitter Disease Association","Website__c":"https://www.pndassoc.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":"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:2102"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2102"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268467"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002844","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C141442","Source__c":"MONDO:0100186","Xref__c":"C141442"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=23447005","Source__c":"MONDO:0100186","Xref__c":"23447005"},{"URL__c":"https://www.orpha.net/en/disease/detail/2102","Source__c":"CN305333; MONDO:0100186","Xref__c":"ORPHA:2102"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112225","Source__c":"MONDO:0100186","Xref__c":"DOID:0112225"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100186","Source__c":"GARD:0002844","Xref__c":"MONDO:0100186"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=988270","Source__c":"CN305333","Xref__c":"MEDGEN:988270"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN305333","Source__c":"CN305333","Xref__c":"CN305333"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GCH1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gch1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["gtpch deficiency"," hpabh4b"," hyperphenylalaninemia due to gtp cyclohydrolase deficiency"," hyperphenylalaninemia, bh4-deficient, b"," hyperphenylalaninemia, bh4-deficient, type b"," hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase 1 deficiency"," hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency"]}