{"Name":"Transcobalamin I deficiency","DiseaseID__c":"GARD:0004522","id":4522,"encodedName":"transcobalamin-i-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Transcobalamin I deficiency","Xref_IDs__c":"237933007; C0342700; C562798; MEDGEN:90993; MONDO:0008659; OMIM:193090; ORPHA:2967","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:2967","Disease_Description__c":"A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.","GARD_Name__c":"Transcobalamin I deficiency","GARD_Synonym__c":"cobalamin pseudodeficiency due to transcobalamin deficiency; cobalamin r binder protein deficiency; haptocorrin deficiency; r-binder deficiency; tci deficiency; tcn1 deficiency; tcn1d; transcobalamin-1 deficiency","Curated_Disease_Description_Source__c":"ORPHA:2967","Curated_Disease_Description__c":"A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:2967","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008659","ORPHANET_ID__c":"ORPHA:2967","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de transcobalamina i","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"deficiencia de transcobalamina i","Spanish_GARD_Synonym__c":"deficiencia de haptocorrina; deficiencia de tci; deficiencia de transcobalamina-i","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":"A rare, genetic, benign disorder of cobalamin transport, due to variable degrees of transcobalamin I deficiency, characterized by mildly low to almost undetectable plasma transcobalamin I levels and slighly low to absent serum cobalamin levels. Normal methylmalonic acid and homocysteine serum values and absence of megaloblastic anemia are reported. No specific clinical manifestations are associated and patients are typically asymptomatic.","Curated_Disease_Description_Source__c":"ORPHA:2967","GARD_Synonym__c":"cobalamin pseudodeficiency due to transcobalamin deficiency; cobalamin r binder protein deficiency; haptocorrin deficiency; r-binder deficiency; tci deficiency; tcn1 deficiency; tcn1d; transcobalamin-1 deficiency","Name":"Transcobalamin I deficiency","estimateUsa":""}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2967"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:2967"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562798","Source__c":"MONDO:0008659","Xref__c":"C562798"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237933007","Source__c":"C0342700; MONDO:0008659","Xref__c":"237933007"},{"URL__c":"https://www.omim.org/entry/193090","Source__c":"C0342700; MONDO:0008659; ORPHA:2967","Xref__c":"OMIM:193090"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=90993","Source__c":"C0342700","Xref__c":"MEDGEN:90993"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0342700","Source__c":"C0342700","Xref__c":"C0342700"},{"URL__c":"https://www.orpha.net/en/disease/detail/2967","Source__c":"C0342700; MONDO:0008659; ORPHA:2967","Xref__c":"ORPHA:2967"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008659","Source__c":"GARD:0004522","Xref__c":"MONDO:0008659"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:193090","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193090","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:193090","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","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"]},"synonyms":["cobalamin pseudodeficiency due to transcobalamin deficiency"," cobalamin r binder protein deficiency"," haptocorrin deficiency"," r-binder deficiency"," tci deficiency"," tcn1 deficiency"," tcn1d"," transcobalamin-1 deficiency"]}