{"Name":"Methylmalonic acidemia due to transcobalamin receptor defect","DiseaseID__c":"GARD:0016481","id":16481,"encodedName":"methylmalonic-acidemia-due-to-transcobalamin-receptor-defect","IsDeleted":false,"Disease_Name_Full__c":"Methylmalonic acidemia due to transcobalamin receptor defect","Xref_IDs__c":"C183527; C4749905; DOID:0060741; MEDGEN:1670056; MONDO:0013341; OMIM:613646; ORPHA:280183","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013341","Disease_Description__c":"Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.","GARD_Name__c":"Methylmalonic acidemia due to transcobalamin receptor defect","GARD_Synonym__c":"cd320 methylmalonic acidemia; matr; methylmalonic acidemia caused by mutation in cd320; methylmalonic acidemia tcb1r type; methylmalonic acidemia, tcb1r type; methylmalonic acidemia, tcbir type; methylmalonic acidemia, tcblr type; methylmalonic aciduria due to transcobalamin receptor defect; methylmalonic aciduria, transient, due to transcobalamin receptor defect","Curated_Disease_Description_Source__c":"MONDO:0013341","Curated_Disease_Description__c":"Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:280183","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013341","ORPHANET_ID__c":"ORPHA:280183","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aciduria metilmalónica por defectos del receptor de la transcobalamina","Spanish_Description_Source__c":"ORPHA:280183","Spanish_Description__c":"Es un trastorno poco frecuente del transporte y absorción de metabolitos. Está caracterizado por un incremento moderado de ácido metilmalónico (MMA) en sangre y orina, debido a la disminución de captación celular de cobalamina, por una pérdida de función del receptor de transcobalamina. Los afectados suelen ser asintomáticos, sin embargo, el procedimiento analítico de cribado revela un aumento de la C3-acilcarnitina y MMA en plasma. Los niveles de homocisteína sérica pueden variar desde normal a moderadamente elevados, y se ha descrito la presencia de patología vascular retiniana oclusiva, que conduce a pérdida visual grave.","Spanish_Disease_Name__c":"aciduria metilmalónica por defectos del receptor de la transcobalamina","Spanish_GARD_Synonym__c":"acidemia metilmalónica tipo tcb1r; acidemia metilmalónica tipo tcbir","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":"Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.","Curated_Disease_Description_Source__c":"MONDO:0013341","GARD_Synonym__c":"cd320 methylmalonic acidemia; matr; methylmalonic acidemia caused by mutation in cd320; methylmalonic acidemia tcb1r type; methylmalonic acidemia, tcb1r type; methylmalonic acidemia, tcbir type; methylmalonic acidemia, tcblr type; methylmalonic aciduria due to transcobalamin receptor defect; methylmalonic aciduria, transient, due to transcobalamin receptor defect","Name":"Methylmalonic acidemia due to transcobalamin receptor defect","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.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":"Neonatal","Provided_By__c":"ORPHA:280183"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:280183"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/280183","Source__c":"C4749905; MONDO:0013341; ORPHA:280183","Xref__c":"ORPHA:280183"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749905","Source__c":"C4749905","Xref__c":"C4749905"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1670056","Source__c":"C4749905","Xref__c":"MEDGEN:1670056"},{"URL__c":"https://www.omim.org/entry/613646","Source__c":"C4749905; MONDO:0013341; ORPHA:280183","Xref__c":"OMIM:613646"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060741","Source__c":"MONDO:0013341","Xref__c":"DOID:0060741"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013341","Source__c":"GARD:0016481","Xref__c":"MONDO:0013341"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771444002","Source__c":"C4749905","Xref__c":"771444002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C183527","Source__c":"C4749905","Xref__c":"C183527"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CD320","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of methylmalonic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012120","HPO_Synonym__c":"High blood methylmalonic acid levels; Methymalonicaciduria","HPO_Name__c":"Methylmalonic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:613646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished ability of cells to transport cobalamine from the extracellular space to the cytoplasm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034985","HPO_Name__c":"Reduced cellular cobalamin uptake","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:613646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of homocystine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002160","HPO_Synonym__c":"Elevated blood homocystine; Homocystinemia","HPO_Name__c":"Hyperhomocystinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:613646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of methylmalonic acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002912","HPO_Synonym__c":"Elevated circulating methylmalonic acid concentration","HPO_Name__c":"Methylmalonic acidemia","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["cd320 methylmalonic acidemia"," matr"," methylmalonic acidemia caused by mutation in cd320"," methylmalonic acidemia tcb1r type"," methylmalonic acidemia, tcb1r type"," methylmalonic acidemia, tcbir type"," methylmalonic acidemia, tcblr type"," methylmalonic aciduria due to transcobalamin receptor defect"," methylmalonic aciduria, transient, due to transcobalamin receptor defect"]}