{"Name":"Histidinemia","DiseaseID__c":"GARD:0006661","id":6661,"encodedName":"histidinemia","IsDeleted":false,"Disease_Name_Full__c":"Histidinemia","Xref_IDs__c":"410058007; C0220992; C538320; DOID:0060168; E70.41; MEDGEN:113135; MONDO:0009345; OMIM:235800; ORPHA:2157","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009345","Disease_Description__c":"Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.","GARD_Name__c":"Histidinemia","GARD_Synonym__c":"deficiency of histidase; deficiency of histidinase; deficiency of histidine a-deaminase; deficiency of histidine ammonia-lyase; hal deficiency; high blood histidine level; his deficiency; histidase deficiency; histidine ammonia-lyase deficiency; histidinuria; hyperhistidinemia","Curated_Disease_Description_Source__c":"GARD:0006661","Curated_Disease_Description__c":"Histidinemia is an inherited condition characterized by elevated levels of histidine in blood, urine, and the fluid that surrounds the brain and spinal cord (cerebrospinal fluid). Histidine is an amino acid that acts as a building block for many different proteins.  In most cases, histidinemia does not cause health problems. Most people with elevated histidine levels are unaware that they have this condition. Rarely, people with histidinemia have intellectual disabilities, learning disabilities, or behavioral problems. Having a medical complication during or soon after birth might increase the risk of developmental problems in people with histidinemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2157","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009345","ORPHANET_ID__c":"ORPHA:2157","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Histidinemia","Spanish_Description_Source__c":"ORPHA:2157","Spanish_Description__c":"Es un trastorno metabólico poco frecuente caracterizado por niveles elevados de histidina en sangre, orina y líquido cefalorraquídeo, por lo general, sin repercusión clínica.","Spanish_Disease_Name__c":"histidinemia","Spanish_GARD_Synonym__c":"deficiencia de histidasa; deficiencia de histidina-amoníaco-liasa; deficiencia hal; deficiencia his; hiperhistidinemia; histidinuria","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":"Histidinemia is an inherited condition characterized by elevated levels of histidine in blood, urine, and the fluid that surrounds the brain and spinal cord (cerebrospinal fluid). Histidine is an amino acid that acts as a building block for many different proteins.  In most cases, histidinemia does not cause health problems. Most people with elevated histidine levels are unaware that they have this condition. Rarely, people with histidinemia have intellectual disabilities, learning disabilities, or behavioral problems. Having a medical complication during or soon after birth might increase the risk of developmental problems in people with histidinemia.","Curated_Disease_Description_Source__c":"GARD:0006661","GARD_Synonym__c":"deficiency of histidase; deficiency of histidinase; deficiency of histidine a-deaminase; deficiency of histidine ammonia-lyase; hal deficiency; high blood histidine level; his deficiency; histidase deficiency; histidine ammonia-lyase deficiency; histidinuria; hyperhistidinemia","Name":"Histidinemia","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Neonatal","Provided_By__c":"ORPHA:2157"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2157"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/HIS"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0220992"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006661","Source__c":"RareSource"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E70.41","Source__c":"MONDO:0009345","Xref__c":"E70.41"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538320","Source__c":"MONDO:0009345","Xref__c":"C538320"},{"URL__c":"https://www.orpha.net/en/disease/detail/2157","Source__c":"C0220992; MONDO:0009345; ORPHA:2157","Xref__c":"ORPHA:2157"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060168","Source__c":"MONDO:0009345","Xref__c":"DOID:0060168"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0220992","Source__c":"C0220992","Xref__c":"C0220992"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=113135","Source__c":"C0220992","Xref__c":"MEDGEN:113135"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=410058007","Source__c":"C0220992; MONDO:0009345","Xref__c":"410058007"},{"URL__c":"https://www.omim.org/entry/235800","Source__c":"C0220992; MONDO:0009345; ORPHA:2157","Xref__c":"OMIM:235800"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009345","Source__c":"GARD:0006661","Xref__c":"MONDO:0009345"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0010906","Source__c":"C0220992","Xref__c":"HP:0010906"},{"URL__c":"https://medlineplus.gov/genetics/condition/histidinemia","Source__c":"GARD:0006661","Xref__c":"https://medlineplus.gov/genetics/condition/histidinemia"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=124628005","Source__c":"C0220992","Xref__c":"124628005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HAL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hal","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011343","HPO_Synonym__c":"Global developmental delay, moderate","HPO_Name__c":"Moderate global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2157","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An increased concentration of histidine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010906","HPO_Synonym__c":"High blood histidine level","HPO_Name__c":"Hyperhistidinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2157","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An increased concentration of histidine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002927","HPO_Synonym__c":"Elevated histidine in urine; High urine histidine levels","HPO_Name__c":"Histidinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000752","HPO_Synonym__c":"Hyperactive behavior; Hyperkinetic disorder; More active than typical","HPO_Name__c":"Hyperactivity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2157","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["deficiency of histidase"," deficiency of histidinase"," deficiency of histidine a-deaminase"," deficiency of histidine ammonia-lyase"," hal deficiency"," high blood histidine level"," his deficiency"," histidase deficiency"," histidine ammonia-lyase deficiency"," histidinuria"," hyperhistidinemia"]}