{"Name":"Iron-refractory iron deficiency anemia","DiseaseID__c":"GARD:0010957","id":10957,"encodedName":"iron-refractory-iron-deficiency-anemia","IsDeleted":false,"Disease_Name_Full__c":"Iron-refractory iron deficiency anemia","Xref_IDs__c":"722005000; C0085576; C562385; MEDGEN:39081; MONDO:0008788; OMIM:206200; ORPHA:209981","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008788","Disease_Description__c":"IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment.","GARD_Name__c":"Iron-refractory iron deficiency anemia","GARD_Synonym__c":"anemia, hypochromic microcytic, with defect in iron metabolism; irida; irida (iron-refractory iron deficiency anemia) syndrome; irida syndrome; iron-handling disorder, hereditary; iron-refractory iron deficiency anaemia; pseudo-iron-deficiency anemia","Curated_Disease_Description_Source__c":"GARD:0010957","Curated_Disease_Description__c":"Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. Iron-refractory iron deficiency anemia results from an inadequate amount (deficiency) of iron in the bloodstream. It is described as 'iron-refractory' because the condition is totally resistant (refractory) to treatment with iron given orally and partially resistant to iron given in other ways, such as intravenously (by IV). In people with this form of anemia, red blood cells are abnormally small (microcytic) and pale (hypochromic). The symptoms of iron-refractory iron deficiency anemia can include tiredness (fatigue), weakness, pale skin, and other complications. These symptoms are most pronounced during childhood, although they tend to be mild. Affected individuals usually have normal growth and development.","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:209981","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008788","ORPHANET_ID__c":"ORPHA:209981","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome irida","Spanish_Description_Source__c":"ORPHA:209981","Spanish_Description__c":"El síndrome IRIDA (anemia por deficiencia de hierro refractaria al hierro) es un trastorno del metabolismo del hierro autosómico recesivo poco frecuente, que se caracteriza por una anemia por deficiencia de hierro (hipocrómica, microcítica) que a menudo no responde a la toma oral de hierro y con respuesta parcial al tratamiento parenteral de hierro.","Spanish_Disease_Name__c":"síndrome irida","Spanish_GARD_Synonym__c":"anemia por deficiencia de hierro resistente al tratamiento por hierro","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":"Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. Iron-refractory iron deficiency anemia results from an inadequate amount (deficiency) of iron in the bloodstream. It is described as 'iron-refractory' because the condition is totally resistant (refractory) to treatment with iron given orally and partially resistant to iron given in other ways, such as intravenously (by IV). In people with this form of anemia, red blood cells are abnormally small (microcytic) and pale (hypochromic). The symptoms of iron-refractory iron deficiency anemia can include tiredness (fatigue), weakness, pale skin, and other complications. These symptoms are most pronounced during childhood, although they tend to be mild. Affected individuals usually have normal growth and development.","Curated_Disease_Description_Source__c":"GARD:0010957","GARD_Synonym__c":"anemia, hypochromic microcytic, with defect in iron metabolism; irida; irida (iron-refractory iron deficiency anemia) syndrome; irida syndrome; iron-handling disorder, hereditary; iron-refractory iron deficiency anaemia; pseudo-iron-deficiency anemia","Name":"Iron-refractory iron deficiency anemia","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:209981"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:209981"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010957","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0085576","Source__c":"C0085576","Xref__c":"C0085576"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722005000","Source__c":"C0085576; MONDO:0008788","Xref__c":"722005000"},{"URL__c":"https://www.omim.org/entry/206200","Source__c":"C0085576; MONDO:0008788; ORPHA:209981","Xref__c":"OMIM:206200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562385","Source__c":"MONDO:0008788","Xref__c":"C562385"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=39081","Source__c":"C0085576","Xref__c":"MEDGEN:39081"},{"URL__c":"https://www.orpha.net/en/disease/detail/209981","Source__c":"C0085576; MONDO:0008788; ORPHA:209981","Xref__c":"ORPHA:209981"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008788","Source__c":"GARD:0010957","Xref__c":"MONDO:0008788"},{"URL__c":"https://medlineplus.gov/genetics/condition/iron-refractory-iron-deficiency-anemia","Source__c":"GARD:0010957","Xref__c":"https://medlineplus.gov/genetics/condition/iron-refractory-iron-deficiency-anemia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TMPRSS6","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tmprss6","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:209981","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":"ORPHA:209981","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001891","HPO_Synonym__c":"Ferropenic; Iron-deficiency anemia","HPO_Name__c":"Iron deficiency anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209981","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A below normal level of saturation of serum transferrin with iron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012464","HPO_Name__c":"Decreased transferrin saturation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:209981","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of inflammation of the lips involving one or both of the corners of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030318","HPO_Synonym__c":"Angular cheilosis; Angular stomatitis; Commissural cheilitis; Inflammation of corners of the mouth; Inflammation of oral commisures; Red and sore corners of the mouth","HPO_Name__c":"Angular cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209981","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209981","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of pallor that is secondary to the presence of anemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001017","HPO_Name__c":"Anemic pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209981","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Concentration of hepcidin in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031877","HPO_Synonym__c":"Elevated hepcidin level","HPO_Name__c":"Elevated circulating hepcidin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:209981","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The concentration of iron in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040303","HPO_Synonym__c":"Decreased serum iron; Hypoferremia; Low serum iron","HPO_Name__c":"Decreased circulating iron concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:209981","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The natural longitudinal (posterodistal) convex arch is not present or is inverted.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001598","HPO_Synonym__c":"Koilonychia; Spoon-shaped nails","HPO_Name__c":"Concave nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:209981","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004840","HPO_Synonym__c":"Hypochromic, microcytic anemia","HPO_Name__c":"Hypochromic microcytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia, hypochromic microcytic, with defect in iron metabolism"," irida"," irida (iron-refractory iron deficiency anemia) syndrome"," irida syndrome"," iron-handling disorder, hereditary"," iron-refractory iron deficiency anaemia"," pseudo-iron-deficiency anemia"]}