{"Name":"Atransferrinemia","DiseaseID__c":"GARD:0009595","id":9595,"encodedName":"atransferrinemia","IsDeleted":false,"Disease_Name_Full__c":"Atransferrinemia","Xref_IDs__c":"111571009; C0521802; C125693; C538259; DOID:0050649; HP:0012239; MEDGEN:105489; MONDO:0008846; OMIM:209300; ORPHA:1195","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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:0008846","Disease_Description__c":"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.","GARD_Name__c":"Atransferrinemia","GARD_Synonym__c":"congenital atransferrinaemia; congenital atransferrinemia; congenital hypotransferrinemia; familial hypotransferrinemia; hereditary atransferrinemia","Curated_Disease_Description_Source__c":"MONDO:0008846","Curated_Disease_Description__c":"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:1195","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008846","ORPHANET_ID__c":"ORPHA:1195","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atransferrinemia congénita","Spanish_Description_Source__c":"ORPHA:1195","Spanish_Description__c":"La atransferrinemia congénita es una enfermedad hematológica muy rara causada por una deficiencia de transferrina (TF) y caracterizada por una anemia microcítica hipocrómica (que se manifiesta con palidez, fatiga y retraso en el crecimiento) y sobrecarga de hierro, que puede ser mortal si no se trata.","Spanish_Disease_Name__c":"atransferrinemia congénita","Spanish_GARD_Synonym__c":"hipotransferrinemia congénita","Category_Linearization__c":"ORPHA:97992","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":"Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.","Curated_Disease_Description_Source__c":"MONDO:0008846","GARD_Synonym__c":"congenital atransferrinaemia; congenital atransferrinemia; congenital hypotransferrinemia; familial hypotransferrinemia; hereditary atransferrinemia","Name":"Atransferrinemia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood 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":"Childhood","Provided_By__c":"ORPHA:1195"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1195"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0521802"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009595","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538259","Source__c":"MONDO:0008846","Xref__c":"C538259"},{"URL__c":"https://www.orpha.net/en/disease/detail/1195","Source__c":"C0521802; MONDO:0008846; ORPHA:1195","Xref__c":"ORPHA:1195"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050649","Source__c":"MONDO:0008846","Xref__c":"DOID:0050649"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125693","Source__c":"C0521802; MONDO:0008846","Xref__c":"C125693"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0521802","Source__c":"C0521802","Xref__c":"C0521802"},{"URL__c":"https://www.omim.org/entry/209300","Source__c":"C0521802; MONDO:0008846; ORPHA:1195","Xref__c":"OMIM:209300"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=105489","Source__c":"C0521802","Xref__c":"MEDGEN:105489"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=111571009","Source__c":"C0521802; MONDO:0008846","Xref__c":"111571009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008846","Source__c":"GARD:0009595","Xref__c":"MONDO:0008846"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0012239","Source__c":"C0521802","Xref__c":"HP:0012239"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1195","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1195","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1195","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cardiovascular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001626","HPO_Synonym__c":"Abnormality of the cardiovascular system; Cardiovascular abnormality","HPO_Name__c":"Abnormality of the cardiovascular system","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1195","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001732","HPO_Synonym__c":"Abnormality of the pancreas","HPO_Name__c":"Abnormality of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1195","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1195","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["congenital atransferrinaemia"," congenital atransferrinemia"," congenital hypotransferrinemia"," familial hypotransferrinemia"," hereditary atransferrinemia"]}