{"Name":"Microcytic anemia with liver iron overload","DiseaseID__c":"GARD:0012360","id":12360,"encodedName":"microcytic-anemia-with-liver-iron-overload","IsDeleted":false,"Disease_Name_Full__c":"Microcytic anemia with liver iron overload","Xref_IDs__c":"711161006; C3806153; MEDGEN:812483; MONDO:0008787; OMIM:206100; ORPHA:83642","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008787","Disease_Description__c":"A congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients.","GARD_Name__c":"Microcytic anemia with liver iron overload","GARD_Synonym__c":"anemia, hypochromic microcytic, with iron overload 1; anemia, hypochromic microcytic, with iron overload type 1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Microcytic anemia with liver iron overload is a rare condition that impairs the normal transport of iron cells. In this condition, red blood cells cannot access iron in the blood, which leads to a decrease in red blood cell production. The red blood cells that are created are small (microcytic) and pale. The lack of healthy red blood cells (anemia) can cause people with this condition to feel tired and weak. The iron that is not used by red blood cells builds up in the liver, eventually leading to liver problems.","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:83642","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008787","ORPHANET_ID__c":"ORPHA:83642","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia microcítica con sobrecarga hepática de hierro","Spanish_Description_Source__c":"ORPHA:83642","Spanish_Description__c":"Es una anemia microcítica hipocrómica congénita con sobrecarga progresiva de hierro en hígado asociada, paradójicamente, a niveles de ferritina sérica de normales a moderadamente elevados. Se ha descrito en tres pacientes no emparentados.","Spanish_Disease_Name__c":"anemia microcítica con sobrecarga hepática de hierro","Spanish_GARD_Synonym__c":null,"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":"Microcytic anemia with liver iron overload is a rare condition that impairs the normal transport of iron cells. In this condition, red blood cells cannot access iron in the blood, which leads to a decrease in red blood cell production. The red blood cells that are created are small (microcytic) and pale. The lack of healthy red blood cells (anemia) can cause people with this condition to feel tired and weak. The iron that is not used by red blood cells builds up in the liver, eventually leading to liver problems.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"anemia, hypochromic microcytic, with iron overload 1; anemia, hypochromic microcytic, with iron overload type 1","Name":"Microcytic anemia with liver iron overload","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":"Neonatal","Provided_By__c":"ORPHA:83642"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:83642"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012360","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=812483","Source__c":"C3806153","Xref__c":"MEDGEN:812483"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3806153","Source__c":"C3806153","Xref__c":"C3806153"},{"URL__c":"https://www.orpha.net/en/disease/detail/83642","Source__c":"C3806153; MONDO:0008787","Xref__c":"ORPHA:83642"},{"URL__c":"https://www.omim.org/entry/206100","Source__c":"C3806153; MONDO:0008787; ORPHA:83642","Xref__c":"OMIM:206100"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711161006","Source__c":"MONDO:0008787","Xref__c":"711161006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008787","Source__c":"GARD:0012360","Xref__c":"MONDO:0008787"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC11A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc11a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:206100","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":"OMIM:206100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of iron in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003452","HPO_Synonym__c":"Increased serum iron","HPO_Name__c":"Increased circulating iron concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:206100","HPO_Frequency__c":"Very frequent (80-99%)","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:206100","HPO_Frequency__c":"Very frequent (80-99%)","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:206100","HPO_Frequency__c":"Very frequent (80-99%)","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:206100","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia, hypochromic microcytic, with iron overload 1"," anemia, hypochromic microcytic, with iron overload type 1"]}