{"Name":"5-Oxoprolinase deficiency","DiseaseID__c":"GARD:0005681","id":5681,"encodedName":"5-oxoprolinase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"5-Oxoprolinase deficiency","Xref_IDs__c":"26132002; C0268525; C535322; MEDGEN:82814; MONDO:0009825; OMIM:260005; ORPHA:33572","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0009825","Disease_Description__c":"A very heterogeneous condition characterized by 5-oxoprolinuria.","GARD_Name__c":"5-Oxoprolinase deficiency","GARD_Synonym__c":"5-oxoprolinase deficiency (disease); 5-oxoprolinuria due to 5-oxoprolinase deficiency; inborn 5-oxoprolinase (atp-hydrolyzing) activity disorder; inborn error of 5-oxoprolinase (atp-hydrolyzing) activity; oplahd; oxoprolinuria due to oxoprolinase deficiency; pyroglutamate hydrolase deficiency; rare inborn error of 5-oxoprolinase (atp-hydrolyzing) activity; reduced 5-oxoprolinase level; reduced circulating 5-oxoprolinase activity","Curated_Disease_Description_Source__c":"MONDO:0009825","Curated_Disease_Description__c":"A very heterogeneous condition characterized by 5-oxoprolinuria.","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:33572","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009825","ORPHANET_ID__c":"ORPHA:33572","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de 5-oxoprolinasa","Spanish_Description_Source__c":"ORPHA:33572","Spanish_Description__c":"Es una condición muy heterogénea caracterizada por 5-oxoprolinuria.","Spanish_Disease_Name__c":"deficiencia de 5-oxoprolinasa","Spanish_GARD_Synonym__c":"oxoprolinuria por deficiencia de oxoprolinasa","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 very heterogeneous condition characterized by 5-oxoprolinuria.","Curated_Disease_Description_Source__c":"MONDO:0009825","GARD_Synonym__c":"5-oxoprolinase deficiency (disease); 5-oxoprolinuria due to 5-oxoprolinase deficiency; inborn 5-oxoprolinase (atp-hydrolyzing) activity disorder; inborn error of 5-oxoprolinase (atp-hydrolyzing) activity; oplahd; oxoprolinuria due to oxoprolinase deficiency; pyroglutamate hydrolase deficiency; rare inborn error of 5-oxoprolinase (atp-hydrolyzing) activity; reduced 5-oxoprolinase level; reduced circulating 5-oxoprolinase activity","Name":"5-Oxoprolinase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:33572"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:33572"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:33572"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268525"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005681","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535322","Source__c":"MONDO:0009825","Xref__c":"C535322"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82814","Source__c":"C0268525","Xref__c":"MEDGEN:82814"},{"URL__c":"https://www.orpha.net/en/disease/detail/33572","Source__c":"C0268525; MONDO:0009825; ORPHA:33572","Xref__c":"ORPHA:33572"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268525","Source__c":"C0268525","Xref__c":"C0268525"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=26132002","Source__c":"C0268525; MONDO:0009825","Xref__c":"26132002"},{"URL__c":"https://www.omim.org/entry/260005","Source__c":"C0268525; MONDO:0009825; ORPHA:33572","Xref__c":"OMIM:260005"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0040142","Source__c":"C0268525","Xref__c":"HP:0040142"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009825","Source__c":"GARD:0005681","Xref__c":"MONDO:0009825"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OPLAH","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040142","HPO_Synonym__c":"5-oxoprolinase deficiency; Reduced 5-oxoprolinase level","HPO_Name__c":"Reduced circulating 5-oxoprolinase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004387","HPO_Name__c":"Enterocolitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in the level of L-pyroglutamic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410132","HPO_Synonym__c":"Elevated urine 5-oxoproline; Increased level of 5-oxo-L-proline in urine","HPO_Name__c":"Increased level of L-pyroglutamic acid in urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The postnatal development of an abnormally large skull (macrocephaly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005490","HPO_Synonym__c":"Macrocephaly, postnatal","HPO_Name__c":"Postnatal macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","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:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of abnormally strong desire for sleep during the daytime.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001262","HPO_Synonym__c":"Excessive daytime sleepiness; More than typical sleepiness during day","HPO_Name__c":"Excessive daytime somnolence","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008947","HPO_Synonym__c":"Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia; Infantile muscular hypotonia","HPO_Name__c":"Floppy infant","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Frequent (30-79%)","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"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:33572","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["5-oxoprolinase deficiency (disease)"," 5-oxoprolinuria due to 5-oxoprolinase deficiency"," inborn 5-oxoprolinase (atp-hydrolyzing) activity disorder"," inborn error of 5-oxoprolinase (atp-hydrolyzing) activity"," oplahd"," oxoprolinuria due to oxoprolinase deficiency"," pyroglutamate hydrolase deficiency"," rare inborn error of 5-oxoprolinase (atp-hydrolyzing) activity"," reduced 5-oxoprolinase level"," reduced circulating 5-oxoprolinase activity"]}