{"Name":"Congenital hyperammonemia, type I","DiseaseID__c":"GARD:0007269","id":7269,"encodedName":"congenital-hyperammonemia-type-i","IsDeleted":false,"Disease_Name_Full__c":"Congenital hyperammonemia, type I","Xref_IDs__c":"62522004; C4082171; C84612; D020165; DOID:9280; MEDGEN:907954; MONDO:0009376; OMIM:237300; ORPHA:147","USA_Estimate__c":"5,000","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":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009376","Disease_Description__c":"A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.","GARD_Name__c":"Congenital hyperammonemia, type I","GARD_Synonym__c":"carbamoyl phosphate synthetase 1 deficiency; carbamoyl phosphate synthetase deficiency; carbamoyl phosphate synthetase i deficiency disease; carbamoyl-phosphate synthase deficiency disease; carbamoyl-phosphate synthase i deficiency; carbamoyl-phosphate synthetase 1 deficiency; carbamoyl-phosphate synthetase deficiency; carbamoyl-phosphate synthetase i deficiency; carbamoylphosphate synthetase i deficiency; carbamyl phosphate synthetase (cps) deficiency; cps 1 deficiency; cps i deficiency; cps1 deficiency; cps1d; hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency","Curated_Disease_Description_Source__c":"GARD:0007269","Curated_Disease_Description__c":"Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia. In the first few days of life, infants with carbamoyl phosphate synthetase I deficiency typically exhibit the effects of hyperammonemia, which may include unusual sleepiness, poorly regulated breathing rate or body temperature, unwillingness to feed, vomiting after feeding, unusual body movements, seizures, or coma. Affected individuals who survive the newborn period may experience recurrence of these symptoms if diet is not carefully managed or if they experience infections or other stressors. They may also have delayed development and intellectual disability. In some people with carbamoyl phosphate synthetase I deficiency, signs and symptoms may be less severe and appear later in life.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:147","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009376","ORPHANET_ID__c":"ORPHA:147","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de carbamoil-fosfato sintetasa 1","Spanish_Description_Source__c":"ORPHA:147","Spanish_Description__c":"Es un trastorno grave y poco frecuente del metabolismo del ciclo de la urea caracterizado típicamente por hiperamonemia grave de inicio neonatal que debuta pocos días después del nacimiento, manifestándose con letargia, vómitos, hipotermia, crisis epilépticas, coma y fallecimiento. También puede debutar a cualquier edad una vez transcurrido el periodo neonatal, ocasionalmente con síntomas más moderados de hiperamonemia.","Spanish_Disease_Name__c":"deficiencia de carbamoil-fosfato sintetasa 1","Spanish_GARD_Synonym__c":"cps1d; deficiencia de carbamoil-fosfato sintetasa; deficiencia de carbamoil-fosfato sintetasa i; deficiencia de cps1","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":"Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia. In the first few days of life, infants with carbamoyl phosphate synthetase I deficiency typically exhibit the effects of hyperammonemia, which may include unusual sleepiness, poorly regulated breathing rate or body temperature, unwillingness to feed, vomiting after feeding, unusual body movements, seizures, or coma. Affected individuals who survive the newborn period may experience recurrence of these symptoms if diet is not carefully managed or if they experience infections or other stressors. They may also have delayed development and intellectual disability. In some people with carbamoyl phosphate synthetase I deficiency, signs and symptoms may be less severe and appear later in life.","Curated_Disease_Description_Source__c":"GARD:0007269","GARD_Synonym__c":"carbamoyl phosphate synthetase 1 deficiency; carbamoyl phosphate synthetase deficiency; carbamoyl phosphate synthetase i deficiency disease; carbamoyl-phosphate synthase deficiency disease; carbamoyl-phosphate synthase i deficiency; carbamoyl-phosphate synthetase 1 deficiency; carbamoyl-phosphate synthetase deficiency; carbamoyl-phosphate synthetase i deficiency; carbamoylphosphate synthetase i deficiency; carbamyl phosphate synthetase (cps) deficiency; cps 1 deficiency; cps i deficiency; cps1 deficiency; cps1d; hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency","Name":"Congenital hyperammonemia, type I","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"National Urea Cycle Disorders Foundation","Website__c":"https://nucdf.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":"All ages","Provided_By__c":"ORPHA:147"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CPS"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007269","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1217","Source__c":"Gene Review","Xref__c":"NBK1217"},{"URL__c":"https://www.omim.org/entry/237300","Source__c":"C4082171; MONDO:0009376; ORPHA:147","Xref__c":"OMIM:237300"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84612","Source__c":"MONDO:0009376","Xref__c":"C84612"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020165","Source__c":"MONDO:0009376","Xref__c":"D020165"},{"URL__c":"https://www.orpha.net/en/disease/detail/147","Source__c":"C4082171; MONDO:0009376","Xref__c":"ORPHA:147"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9280","Source__c":"MONDO:0009376","Xref__c":"DOID:9280"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=62522004","Source__c":"MONDO:0009376","Xref__c":"62522004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4082171","Source__c":"C4082171","Xref__c":"C4082171"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=907954","Source__c":"C4082171","Xref__c":"MEDGEN:907954"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009376","Source__c":"GARD:0007269","Xref__c":"MONDO:0009376"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CPS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cps1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of arginine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005961","HPO_Synonym__c":"Low blood arginine levels","HPO_Name__c":"Hypoargininemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of ammonia in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001987","HPO_Synonym__c":"High blood ammonia levels","HPO_Name__c":"Hyperammonemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:147","HPO_Frequency__c":"Very frequent (80-99%)","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:147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:147","HPO_Frequency__c":"Very frequent (80-99%)","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:147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001951","HPO_Name__c":"Episodic ammonia intoxication","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["carbamoyl phosphate synthetase 1 deficiency"," carbamoyl phosphate synthetase deficiency"," carbamoyl phosphate synthetase i deficiency disease"," carbamoyl-phosphate synthase deficiency disease"," carbamoyl-phosphate synthase i deficiency"," carbamoyl-phosphate synthetase 1 deficiency"," carbamoyl-phosphate synthetase deficiency"," carbamoyl-phosphate synthetase i deficiency"," carbamoylphosphate synthetase i deficiency"," carbamyl phosphate synthetase (cps) deficiency"," cps 1 deficiency"," cps i deficiency"," cps1 deficiency"," cps1d"," hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency"]}