{"Name":"Homocystinuria","DiseaseID__c":"GARD:0010770","id":10770,"encodedName":"homocystinuria","IsDeleted":false,"Disease_Name_Full__c":"Homocystinuria","Xref_IDs__c":"11282001; C0019880; C84765; D006712; DOID:9263; E72.11; HP:0002156; MEDGEN:42485; MONDO:0004737","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0004737","Disease_Description__c":"An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.","GARD_Name__c":"Homocystinuria","GARD_Synonym__c":"high urine homocystine levels; homocystinuria (disease)","Curated_Disease_Description_Source__c":"GARD:0010770","Curated_Disease_Description__c":"Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.  The most common form of homocystinuria, called classic homocystinuria, is characterized by tall stature, nearsightedness (myopia), dislocation of the lens at the front of the eye, a higher risk of blood clotting disorders, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems. Less common forms of homocystinuria can cause intellectual disability, slower growth and weight gain (failure to thrive), seizures, and problems with movement. They can also cause and a blood disorder called megaloblastic anemia, which occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of homocystinuria typically develop during childhood, although some mildly affected people may not show signs and symptoms until adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0004737","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly.  The most common form of homocystinuria, called classic homocystinuria, is characterized by tall stature, nearsightedness (myopia), dislocation of the lens at the front of the eye, a higher risk of blood clotting disorders, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems. Less common forms of homocystinuria can cause intellectual disability, slower growth and weight gain (failure to thrive), seizures, and problems with movement. They can also cause and a blood disorder called megaloblastic anemia, which occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of homocystinuria typically develop during childhood, although some mildly affected people may not show signs and symptoms until adulthood.","Curated_Disease_Description_Source__c":"GARD:0010770","GARD_Synonym__c":"high urine homocystine levels; homocystinuria (disease)","Name":"Homocystinuria","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"HCU Network America","Website__c":"https://hcunetworkamerica.org/"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CBL-G"},{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/MTHFR"},{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CBL-E"},{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CBL-D"},{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/CBL-C"},{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/HCY"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0019880"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84765","Source__c":"C0019880; MONDO:0004737","Xref__c":"C84765"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006712","Source__c":"C0019880; MONDO:0004737","Xref__c":"D006712"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=11282001","Source__c":"C0019880; MONDO:0004737","Xref__c":"11282001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0019880","Source__c":"C0019880","Xref__c":"C0019880"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E72.11","Source__c":"MONDO:0004737","Xref__c":"E72.11"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A9263","Source__c":"MONDO:0004737","Xref__c":"DOID:9263"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=42485","Source__c":"C0019880","Xref__c":"MEDGEN:42485"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002156","Source__c":"C0019880","Xref__c":"HP:0002156"},{"URL__c":"https://medlineplus.gov/genetics/condition/homocystinuria","Source__c":"GARD:0010770","Xref__c":"https://medlineplus.gov/genetics/condition/homocystinuria"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0004737","Source__c":"GARD:0010770","Xref__c":"MONDO:0004737"},{"URL__c":"https://2d3.505.myftpupload.com/wp-content/uploads/2020/09/FDA-Listening-Session-Summary-Final.pdf"}],"tags":{},"synonyms":["high urine homocystine levels"," homocystinuria (disease)"]}