{"Name":"X-linked sideroblastic anemia 1","DiseaseID__c":"GARD:0009456","id":9456,"encodedName":"x-linked-sideroblastic-anemia-1","IsDeleted":false,"Disease_Name_Full__c":"X-linked sideroblastic anemia 1","Xref_IDs__c":"62677000; C4551511; C536761; DOID:0060063; MEDGEN:1638704; MONDO:0020721; OMIM:300751; ORPHA:75563","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"GARD:0009456","Disease_Description__c":"X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded erythroblasts, which are present in bone marrow, are called ring sideroblasts. These abnormal cells give the condition its name. The symptoms of X-linked sideroblastic anemia result from a combination of reduced hemoglobin and an overload of iron. They range from mild to severe and most often appear in young adulthood. Common features include fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, more serious medical problems such as heart disease and liver damage (cirrhosis) can result from the buildup of excess iron in these organs. X-linked sideroblastic anemia is caused by genetic change in the ALAS2 gene. In rare cases, genetic changes are found in both the HFE gene and the ALAS2 gene, resulting in a more severe form of X-linked sideroblastic anemia. X-linked sideroblastic anemia is inherited in an X-linked recessive pattern.","GARD_Name__c":"X-linked sideroblastic anemia 1","GARD_Synonym__c":"anemia, hereditary sideroblastic 1, pyridoxine refractory; anemia, sideroblastic, 1; anemia, sideroblastic, 1, pyridoxine refractory; anemia, sideroblastic, 1, x-linked recessive; congenital sideroblastic anemia; erythroid 5-aminolevulinate synthase deficiency; sideroblastic anemia, x-linked; x chromosome-linked sideroblastic anemia; x-linked pyridoxine-refractory sideroblastic anemia; x-linked sideroblastic anaemia; x-linked sideroblastic anemia; xlsa","Curated_Disease_Description_Source__c":"GARD:0009456","Curated_Disease_Description__c":"X-linked sideroblastic anemia belongs to a group of disorders that are characterized by a shortage of healthy red blood cells (anemia). X-linked sideroblastic anemia prevents developing red blood cells from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded red blood cells, which are present in bone marrow, are called ring sideroblasts.  The signs and symptoms of X-linked sideroblastic anemia are caused by a combination of too little hemoglobin and too much iron. Common signs and symptoms include extreme tiredness (fatigue), dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe health problems such as heart disease and liver damage (cirrhosis), can result from the buildup of iron in these organs.  Males with X-linked sideroblastic anemia typically have the classic signs and symptoms of the condition, while females tend to be less severely affected. Females with X-linked sideroblastic anemia usually develop features of the condition in mid to late adulthood, while affected males often first experience symptoms in adolescence to early adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:75563","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0020721","ORPHANET_ID__c":"ORPHA:75563","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia sideroblástica ligada al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anemia sideroblástica ligada al cromosoma x","Spanish_GARD_Synonym__c":"xlsa","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":"X-linked sideroblastic anemia belongs to a group of disorders that are characterized by a shortage of healthy red blood cells (anemia). X-linked sideroblastic anemia prevents developing red blood cells from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. This disorder also leads to an abnormal accumulation of iron in red blood cells. The iron-loaded red blood cells, which are present in bone marrow, are called ring sideroblasts.  The signs and symptoms of X-linked sideroblastic anemia are caused by a combination of too little hemoglobin and too much iron. Common signs and symptoms include extreme tiredness (fatigue), dizziness, a rapid heartbeat, pale skin, and an enlarged liver and spleen (hepatosplenomegaly). Over time, severe health problems such as heart disease and liver damage (cirrhosis), can result from the buildup of iron in these organs.  Males with X-linked sideroblastic anemia typically have the classic signs and symptoms of the condition, while females tend to be less severely affected. Females with X-linked sideroblastic anemia usually develop features of the condition in mid to late adulthood, while affected males often first experience symptoms in adolescence to early adulthood.","Curated_Disease_Description_Source__c":"GARD:0009456","GARD_Synonym__c":"anemia, hereditary sideroblastic 1, pyridoxine refractory; anemia, sideroblastic, 1; anemia, sideroblastic, 1, pyridoxine refractory; anemia, sideroblastic, 1, x-linked recessive; congenital sideroblastic anemia; erythroid 5-aminolevulinate synthase deficiency; sideroblastic anemia, x-linked; x chromosome-linked sideroblastic anemia; x-linked pyridoxine-refractory sideroblastic anemia; x-linked sideroblastic anaemia; x-linked sideroblastic anemia; xlsa","Name":"X-linked sideroblastic anemia 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"}],"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":"All ages","Provided_By__c":"ORPHA:75563"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0221018"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009456","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4551511","Source__c":"C4551511","Xref__c":"C4551511"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536761","Source__c":"MONDO:0020721","Xref__c":"C536761"},{"URL__c":"https://www.omim.org/entry/300751","Source__c":"C4551511; MONDO:0020721; ORPHA:75563","Xref__c":"OMIM:300751"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1638704","Source__c":"C4551511","Xref__c":"MEDGEN:1638704"},{"URL__c":"https://www.orpha.net/en/disease/detail/75563","Source__c":"C4551511; MONDO:0020721; ORPHA:75563","Xref__c":"ORPHA:75563"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060063","Source__c":"MONDO:0020721","Xref__c":"DOID:0060063"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=62677000","Source__c":"MONDO:0020721","Xref__c":"62677000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020721","Source__c":"GARD:0009456","Xref__c":"MONDO:0020721"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=48983004","Source__c":"C4551511","Xref__c":"48983004"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia","Source__c":"GARD:0009456","Xref__c":"https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ALAS2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/alas2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:75563","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:75563","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:75563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally pale skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000980","HPO_Name__c":"Pallor","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75563","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:75563","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75563","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001952","HPO_Synonym__c":"Glucose intolerance","HPO_Name__c":"Glucose intolerance","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75563","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:75563","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the homeostasis (concentration) of iron cation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011031","HPO_Name__c":"Abnormality of iron homeostasis","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["anemia, hereditary sideroblastic 1, pyridoxine refractory"," anemia, sideroblastic, 1"," anemia, sideroblastic, 1, pyridoxine refractory"," anemia, sideroblastic, 1, x-linked recessive"," congenital sideroblastic anemia"," erythroid 5-aminolevulinate synthase deficiency"," sideroblastic anemia, x-linked"," x chromosome-linked sideroblastic anemia"," x-linked pyridoxine-refractory sideroblastic anemia"," x-linked sideroblastic anaemia"," x-linked sideroblastic anemia"," xlsa"]}