{"Name":"Combined molybdoflavoprotein enzyme deficiency","DiseaseID__c":"GARD:0003705","id":3705,"encodedName":"combined-molybdoflavoprotein-enzyme-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Combined molybdoflavoprotein enzyme deficiency","Xref_IDs__c":"29692004; C0268119; C129076; DOID:0111165; MEDGEN:75652; MONDO:0020480; OMIMPS:252150; ORPHA:99732","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:99732","Disease_Description__c":null,"GARD_Name__c":"Combined molybdoflavoprotein enzyme deficiency","GARD_Synonym__c":"combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase; combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase; combined xanthine oxidase and aldehyde oxidase deficiency; combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency; deficiency of molybdenum cofactor; hereditary xanthinuria type 2; hereditary xanthinuria, type 2; mocod; molybdenum cofactor deficiency; sulfite oxidase deficiency due to molybdenum cofactor deficiency; xanthine oxidase-sulfite oxidase deficiency","Curated_Disease_Description_Source__c":"ORPHA:833","Curated_Disease_Description__c":"Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as 'coarse.' Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood. Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99732","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020480","ORPHANET_ID__c":"ORPHA:99732","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno","Spanish_GARD_Synonym__c":"mocod","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":"Molybdenum cofactor deficiency is a rare condition characterized by brain dysfunction (encephalopathy) that worsens over time. Babies with this condition appear normal at birth, but within a week they have difficulty feeding and develop seizures that do not improve with treatment (intractable seizures). Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to severe developmental delay; affected individuals usually do not learn to sit unassisted or to speak. A small percentage of affected individuals have an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises. Other features of molybdenum cofactor deficiency can include a small head size (microcephaly) and facial features that are described as 'coarse.' Tests reveal that affected individuals have high levels of chemicals called sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels of a chemical called uric acid in the blood. Because of the serious health problems caused by molybdenum cofactor deficiency, affected individuals usually do not survive past early childhood.","Curated_Disease_Description_Source__c":"ORPHA:833","GARD_Synonym__c":"combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase; combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase; combined xanthine oxidase and aldehyde oxidase deficiency; combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency; deficiency of molybdenum cofactor; hereditary xanthinuria type 2; hereditary xanthinuria, type 2; mocod; molybdenum cofactor deficiency; sulfite oxidase deficiency due to molybdenum cofactor deficiency; xanthine oxidase-sulfite oxidase deficiency","Name":"Combined molybdoflavoprotein enzyme deficiency","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.org/"},{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK575630","Source__c":"Gene Review","Xref__c":"NBK575630"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS252150","Source__c":"MONDO:0020480","Xref__c":"OMIMPS:252150"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75652","Source__c":"C0268119","Xref__c":"MEDGEN:75652"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268119","Source__c":"C0268119","Xref__c":"C0268119"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111165","Source__c":"MONDO:0020480","Xref__c":"DOID:0111165"},{"URL__c":"https://www.orpha.net/en/disease/detail/99732","Source__c":"C0268119; MONDO:0020480; ORPHA:99732","Xref__c":"ORPHA:99732"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129076","Source__c":"C0268119","Xref__c":"C129076"},{"URL__c":"https://medlineplus.gov/genetics/condition/molybdenum-cofactor-deficiency","Source__c":"GARD:0003705","Xref__c":"https://medlineplus.gov/genetics/condition/molybdenum-cofactor-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020480","Source__c":"GARD:0003705","Xref__c":"MONDO:0020480"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003570","Source__c":"C0268119","Xref__c":"HP:0003570"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=29692004","Source__c":"C0268119","Xref__c":"29692004"}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Epilepsy","Anterior segment of Eye","Neurodevelopmental disabilities"],"Account":["Epilepsy"]},"synonyms":["combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase"," combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase"," combined xanthine oxidase and aldehyde oxidase deficiency"," combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency"," deficiency of molybdenum cofactor"," hereditary xanthinuria type 2"," hereditary xanthinuria, type 2"," mocod"," molybdenum cofactor deficiency"," sulfite oxidase deficiency due to molybdenum cofactor deficiency"," xanthine oxidase-sulfite oxidase deficiency"]}