{"Name":"Hemoglobin M disease","DiseaseID__c":"GARD:0013007","id":13007,"encodedName":"hemoglobin-m-disease","IsDeleted":false,"Disease_Name_Full__c":"Hemoglobin M disease","Xref_IDs__c":"74912001; C3665425; C581942; MEDGEN:777099; MONDO:0018023; OMIM:617971; ORPHA:330041","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:330041","Disease_Description__c":"A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.","GARD_Name__c":"Hemoglobin M disease","GARD_Synonym__c":"hereditary m hemoglobinopathy; hereditary methemoglobinemia due to globin chain mutation; hereditary methemoglobinuria; m hemoglobinopathy; methemoglobinemia, beta type","Curated_Disease_Description_Source__c":"ORPHA:330041","Curated_Disease_Description__c":"Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the bodys tissues. In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. It also causes a bluish appearance of the skin, lips, and nails (cyanosis), which usually first appears around the age of 6 months. The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. However, in rare cases, severe methemoglobinemia, beta-globin type can cause headaches, weakness, and fatigue.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:330041","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018023","ORPHANET_ID__c":"ORPHA:330041","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de la hemoglobina m","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de la hemoglobina m","Spanish_GARD_Synonym__c":"hemoglobinopatía m","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":"Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. Specifically, it alters a molecule called hemoglobin within these cells. Hemoglobin within red blood cells attaches (binds) to oxygen molecules in the lungs, which it carries through the bloodstream, then releases in tissues throughout the body. Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the bodys tissues. In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. It also causes a bluish appearance of the skin, lips, and nails (cyanosis), which usually first appears around the age of 6 months. The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. However, in rare cases, severe methemoglobinemia, beta-globin type can cause headaches, weakness, and fatigue.","Curated_Disease_Description_Source__c":"ORPHA:330041","GARD_Synonym__c":"hereditary m hemoglobinopathy; hereditary methemoglobinemia due to globin chain mutation; hereditary methemoglobinuria; m hemoglobinopathy; methemoglobinemia, beta type","Name":"Hemoglobin M disease","estimateUsa":""}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:330041"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013007","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C581942","Source__c":"MONDO:0018023","Xref__c":"C581942"},{"URL__c":"https://www.omim.org/entry/617971","Source__c":"MONDO:0018023","Xref__c":"OMIM:617971"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=777099","Source__c":"C3665425","Xref__c":"MEDGEN:777099"},{"URL__c":"https://www.orpha.net/en/disease/detail/330041","Source__c":"C3665425; MONDO:0018023; ORPHA:330041","Xref__c":"ORPHA:330041"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=74912001","Source__c":"C3665425; MONDO:0018023","Xref__c":"74912001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3665425","Source__c":"C3665425","Xref__c":"C3665425"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018023","Source__c":"GARD:0013007","Xref__c":"MONDO:0018023"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HBB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hbb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:617971","Feature__r":{"HPO_Description__c":"Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012119","HPO_Name__c":"Methemoglobinemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:617971","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000961","HPO_Synonym__c":"Blue discoloration of the skin","HPO_Name__c":"Cyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["hereditary m hemoglobinopathy"," hereditary methemoglobinemia due to globin chain mutation"," hereditary methemoglobinuria"," m hemoglobinopathy"," methemoglobinemia, beta type"]}