{"Name":"Dihydropteridine reductase deficiency","DiseaseID__c":"GARD:0004319","id":4319,"encodedName":"dihydropteridine-reductase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Dihydropteridine reductase deficiency","Xref_IDs__c":"58256000; C0268465; C138173; DOID:0081130; MEDGEN:75682; MONDO:0009862; OMIM:261630; ORPHA:226","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009862","Disease_Description__c":"A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) recycling deficiency, leading to central dopamine and serotonin deficiency, clinically characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Some patients may present refractory neurological symptoms like a degree of developmental delay, epilepsy and brain abnormalities.","GARD_Name__c":"Dihydropteridine reductase deficiency","GARD_Synonym__c":"6,7-dihydropteridine reductase activity disease; atypical phenylketonuria; atypical pku; bh4-deficient hyperphenylalaninemia c; dhpr - dihydropteridine reductase deficiency; dhpr deficiency; disorder of 6,7-dihydropteridine reductase activity; hpabh4c; hyperphenylalaninemia due to dihydropteridine reductase deficiency; hyperphenylalaninemia, bh-4-deficient, c; hyperphenylalaninemia, bh4-deficient c; hyperphenylalaninemia, bh4-deficient, type c; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency; hyperphenylalaninemia, type iv; phenylketonuria ii; phenylketonuria type 2; pku type 2; qdpr deficiency; quinoid dihydropteridine reductase deficiency","Curated_Disease_Description_Source__c":"GARD:0004319","Curated_Disease_Description__c":"Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is also involved in the production of neurotransmitters. If little or no tetrahydrobiopterin is available to help process phenylalanine, this amino acid can build up in the blood and other tissues and the levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid are also decreased. This results in neurological symptoms such as psychomotor delay, low muscle tone (hypotonia), seizures, abnormal movements, too much salivation, and swallowing difficulties. DHPR deficiency is caused by genetic changes in the QDPR gene. It is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:226","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009862","ORPHANET_ID__c":"ORPHA:226","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de dihidropteridina reductasa","Spanish_Description_Source__c":"ORPHA:226","Spanish_Description__c":"La deficiencia de dihidropteridina reductasa (DHPR) es una forma grave de hiperfenilalaninemia (HPA) debido a la alteración de la regeneración de la tetrahidrobiopterina (BH4) (ver este término), conducente a una reducción de los niveles de neurotransmisores (dopamina, serotonina) y folato en el líquido cefalorraquídeo y síntomas tales como retraso psicomotor, hipotonía, convulsiones, movimientos anómalos, hipersalivación y dificultades para tragar.","Spanish_Disease_Name__c":"deficiencia de dihidropteridina reductasa","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":"Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the amino acid phenylalanine in the blood) due to impaired renewal of a substance known as tetrahydrobiopterin (BH4). Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine, and it is also involved in the production of neurotransmitters. If little or no tetrahydrobiopterin is available to help process phenylalanine, this amino acid can build up in the blood and other tissues and the levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid are also decreased. This results in neurological symptoms such as psychomotor delay, low muscle tone (hypotonia), seizures, abnormal movements, too much salivation, and swallowing difficulties. DHPR deficiency is caused by genetic changes in the QDPR gene. It is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0004319","GARD_Synonym__c":"6,7-dihydropteridine reductase activity disease; atypical phenylketonuria; atypical pku; bh4-deficient hyperphenylalaninemia c; dhpr - dihydropteridine reductase deficiency; dhpr deficiency; disorder of 6,7-dihydropteridine reductase activity; hpabh4c; hyperphenylalaninemia due to dihydropteridine reductase deficiency; hyperphenylalaninemia, bh-4-deficient, c; hyperphenylalaninemia, bh4-deficient c; hyperphenylalaninemia, bh4-deficient, type c; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency; hyperphenylalaninemia, type iv; phenylketonuria ii; phenylketonuria type 2; pku type 2; qdpr deficiency; quinoid dihydropteridine reductase deficiency","Name":"Dihydropteridine reductase deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"flok","Website__c":"https://flok.org/"},{"Account_Name__c":"Canadian PKU & Allied Disorders","Website__c":"https://canpku.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":"Infancy","Provided_By__c":"ORPHA:226"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:226"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/BIOPT-REG"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268465"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004319","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/226","Source__c":"C0268465; MONDO:0009862; ORPHA:226","Xref__c":"ORPHA:226"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268465","Source__c":"C0268465","Xref__c":"C0268465"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081130","Source__c":"MONDO:0009862","Xref__c":"DOID:0081130"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=58256000","Source__c":"C0268465; MONDO:0009862","Xref__c":"58256000"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C138173","Source__c":"C0268465; MONDO:0009862","Xref__c":"C138173"},{"URL__c":"https://www.omim.org/entry/261630","Source__c":"C0268465; MONDO:0009862; ORPHA:226","Xref__c":"OMIM:261630"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75682","Source__c":"C0268465","Xref__c":"MEDGEN:75682"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009862","Source__c":"GARD:0004319","Xref__c":"MONDO:0009862"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"QDPR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/qdpr","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:226","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:226","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:226","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:226","HPO_Frequency__c":"Very frequent (80-99%)","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","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["6,7-dihydropteridine reductase activity disease"," atypical phenylketonuria"," atypical pku"," bh4-deficient hyperphenylalaninemia c"," dhpr - dihydropteridine reductase deficiency"," dhpr deficiency"," disorder of 6,7-dihydropteridine reductase activity"," hpabh4c"," hyperphenylalaninemia due to dihydropteridine reductase deficiency"," hyperphenylalaninemia, bh-4-deficient, c"," hyperphenylalaninemia, bh4-deficient c"," hyperphenylalaninemia, bh4-deficient, type c"," hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to dhpr deficiency"," hyperphenylalaninemia, type iv"," phenylketonuria ii"," phenylketonuria type 2"," pku type 2"," qdpr deficiency"," quinoid dihydropteridine reductase deficiency"]}