{"Name":"Sideroblastic anemia 3","DiseaseID__c":"GARD:0017235","id":17235,"encodedName":"sideroblastic-anemia-3","IsDeleted":false,"Disease_Name_Full__c":"Sideroblastic anemia 3","Xref_IDs__c":"720465002; C4225155; DOID:0080343; MEDGEN:895975; MONDO:0014804; OMIM:616860; ORPHA:255132","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:255132","Disease_Description__c":"A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (<i>GLRX5</i>) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.","GARD_Name__c":"Sideroblastic anemia 3","GARD_Synonym__c":"adult-onset autosomal recessive sideroblastic anaemia; adult-onset autosomal recessive sideroblastic anemia; anemia, sideroblastic, 3, pyridoxine-refractory; glrx5-related sideroblastic anaemia; glrx5-related sideroblastic anemia; sidba3; sideroblastic anemia 3, pyridoxine-refractory","Curated_Disease_Description_Source__c":"ORPHA:255132","Curated_Disease_Description__c":"A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:255132","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014804","ORPHANET_ID__c":"ORPHA:255132","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia sideroblástica autosómica recesiva de inicio en el adulto","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anemia sideroblástica autosómica recesiva de inicio en el adulto","Spanish_GARD_Synonym__c":"anemia sideroblástica asociada a glrx5","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":"A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes.","Curated_Disease_Description_Source__c":"ORPHA:255132","GARD_Synonym__c":"adult-onset autosomal recessive sideroblastic anaemia; adult-onset autosomal recessive sideroblastic anemia; anemia, sideroblastic, 3, pyridoxine-refractory; glrx5-related sideroblastic anaemia; glrx5-related sideroblastic anemia; sidba3; sideroblastic anemia 3, pyridoxine-refractory","Name":"Sideroblastic anemia 3","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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:255132"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080343","Source__c":"MONDO:0014804","Xref__c":"DOID:0080343"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225155","Source__c":"C4225155","Xref__c":"C4225155"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720465002","Source__c":"MONDO:0014804","Xref__c":"720465002"},{"URL__c":"https://www.omim.org/entry/616860","Source__c":"C4225155; MONDO:0014804; ORPHA:255132","Xref__c":"OMIM:616860"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=895975","Source__c":"C4225155","Xref__c":"MEDGEN:895975"},{"URL__c":"https://www.orpha.net/en/disease/detail/255132","Source__c":"C4225155; MONDO:0014804","Xref__c":"ORPHA:255132"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014804","Source__c":"GARD:0017235","Xref__c":"MONDO:0014804"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GLRX5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"An increased level of iron in liver tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012465","HPO_Synonym__c":"Increased iron concentration in liver; Increased liver iron level","HPO_Name__c":"Elevated hepatic iron concentration","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"Increased concentration of ferritin in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003281","HPO_Synonym__c":"Elevated serum ferritin; High ferritin level; Hyperferritinaemia; Hyperferritinemia; Increased ferritin; Increased plasma ferritin; Increased serum ferritin level","HPO_Name__c":"Increased circulating ferritin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005978","HPO_Synonym__c":"Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes","HPO_Name__c":"Type II diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616860","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":"OMIM:616860","Feature__r":{"HPO_Description__c":"A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025066","HPO_Synonym__c":"Decreased MCV; Microcytosis; Reduced erythrocyte volume","HPO_Name__c":"Decreased mean corpuscular volume","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032231","HPO_Name__c":"Hypochromia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616860","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012132","HPO_Name__c":"Erythroid hyperplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002908","HPO_Synonym__c":"Direct hyperbilirubinemia","HPO_Name__c":"Conjugated hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"Abnormally increased variability in the size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011273","HPO_Synonym__c":"Unequal size of red blood cells","HPO_Name__c":"Anisocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:616860","Feature__r":{"HPO_Description__c":"Simultaneous enlargement of the liver and spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001433","HPO_Synonym__c":"Enlarged liver and spleen","HPO_Name__c":"Hepatosplenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Hematology"],"Account":["Mitochondrial"]},"synonyms":["adult-onset autosomal recessive sideroblastic anaemia"," adult-onset autosomal recessive sideroblastic anemia"," anemia, sideroblastic, 3, pyridoxine-refractory"," glrx5-related sideroblastic anaemia"," glrx5-related sideroblastic anemia"," sidba3"," sideroblastic anemia 3, pyridoxine-refractory"]}