{"Name":"Pterin-4 alpha-carbinolamine dehydratase 1 deficiency","DiseaseID__c":"GARD:0002843","id":2843,"encodedName":"pterin-4-alpha-carbinolamine-dehydratase-1-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Pterin-4 alpha-carbinolamine dehydratase 1 deficiency","Xref_IDs__c":"124646004; C1849700; C538382; DOID:0081131; MEDGEN:337890; MONDO:0009908; OMIM:264070; ORPHA:1578","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009908","Disease_Description__c":"A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.","GARD_Name__c":"Pterin-4 alpha-carbinolamine dehydratase 1 deficiency","GARD_Synonym__c":"cadh deficiency; dehydratase deficiency; hyperphenylalaninemia due to dehydratase deficiency; hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency; hyperphenylalaninemia with primapterinuria; hyperphenylalaninemia, bh4-deficient, type d; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency; pcbd deficiency; pcbd1 deficiency; pcd deficiency; pterin-4 alpha-carbinolamine dehydratase deficiency","Curated_Disease_Description_Source__c":"MONDO:0009908","Curated_Disease_Description__c":"A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1578","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009908","ORPHANET_ID__c":"ORPHA:1578","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de pterin-4 alfa-carbinolamina deshidratasa","Spanish_Description_Source__c":"ORPHA:1578","Spanish_Description__c":"Es una forma poco frecuente, transitoria y benigna de hiperfenilalaninemia de origen genético por déficit de tetrahidrobiopterina y caracterizada por hipotonía muscular, irritabilidad (detectada por EEG), retraso en la adquisición de habilidades psicomotoras, trastornos del movimiento dependientes de la edad, incluyendo distonía y excreción concomitante de pterinas sustituidas en posición 7. El desarrollo neurológico es normal con el control dietético de fenilalanina en sangre.","Spanish_Disease_Name__c":"deficiencia de pterin-4 alfa-carbinolamina deshidratasa","Spanish_GARD_Synonym__c":"hiperfenilalaninemia con primapterinuria; hiperfenilalaninemia por deficiencia de deshidratasa; hiperfenilalaninemia por deficiencia de pterin-4 alfa-carbinolamina deshidratasa","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":"A rare genetic, transient and benign form of hyperphenylalaninemia due to tetrahydrobiopterin deficiency and characterized by muscular hypotonia, irritability (detected by EEG), slow acquisition of psychomotor skills, age-dependent movement disorders, including dystonia and an accompanying excretion of 7-substituted pterins. Neurological developement is normal with dietary control of blood phenyalanine.","Curated_Disease_Description_Source__c":"MONDO:0009908","GARD_Synonym__c":"cadh deficiency; dehydratase deficiency; hyperphenylalaninemia due to dehydratase deficiency; hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency; hyperphenylalaninemia with primapterinuria; hyperphenylalaninemia, bh4-deficient, type d; hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency; pcbd deficiency; pcbd1 deficiency; pcd deficiency; pterin-4 alpha-carbinolamine dehydratase deficiency","Name":"Pterin-4 alpha-carbinolamine dehydratase 1 deficiency","estimateUsa":""}],"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":"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:1578"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002843","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/1578","Source__c":"C1849700; MONDO:0009908; ORPHA:1578","Xref__c":"ORPHA:1578"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849700","Source__c":"C1849700","Xref__c":"C1849700"},{"URL__c":"https://www.omim.org/entry/264070","Source__c":"C1849700; MONDO:0009908; ORPHA:1578","Xref__c":"OMIM:264070"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337890","Source__c":"C1849700","Xref__c":"MEDGEN:337890"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081131","Source__c":"MONDO:0009908","Xref__c":"DOID:0081131"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538382","Source__c":"MONDO:0009908","Xref__c":"C538382"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124646004","Source__c":"MONDO:0009908","Xref__c":"124646004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009908","Source__c":"GARD:0002843","Xref__c":"MONDO:0009908"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PCBD1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pcbd1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased magnesium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002917","HPO_Synonym__c":"Low blood magnesium levels; Low blood Mg levels","HPO_Name__c":"Hypomagnesemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of neopterin in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040206","HPO_Name__c":"Abnormal circulating neopterin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010553","HPO_Name__c":"Oculogyric crisis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004904","HPO_Synonym__c":"Maturity onset diabetes of the young","HPO_Name__c":"Maturity-onset diabetes of the young","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of L-phenylalanine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004923","HPO_Name__c":"Hyperphenylalaninemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100021","HPO_Synonym__c":"Cerebral paralysis; CP","HPO_Name__c":"Cerebral palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A deviation from the normal concentration of biopterin in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040210","HPO_Name__c":"Abnormal circulating biopterin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1578","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008936","HPO_Synonym__c":"Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia","HPO_Name__c":"Axial hypotonia","Feature_System__c":"Musculoskeletal 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":["cadh deficiency"," dehydratase deficiency"," hyperphenylalaninemia due to dehydratase deficiency"," hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency"," hyperphenylalaninemia with primapterinuria"," hyperphenylalaninemia, bh4-deficient, type d"," hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency"," pcbd deficiency"," pcbd1 deficiency"," pcd deficiency"," pterin-4 alpha-carbinolamine dehydratase deficiency"]}