{"Name":"Cryohydrocytosis","DiseaseID__c":"GARD:0010184","id":10184,"encodedName":"cryohydrocytosis","IsDeleted":false,"Disease_Name_Full__c":"Cryohydrocytosis","Xref_IDs__c":"C1861453; C535827; MEDGEN:396137; MONDO:0008494; OMIM:185020; ORPHA:398088","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008494","Disease_Description__c":"Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade.","GARD_Name__c":"Cryohydrocytosis","GARD_Synonym__c":"chc; cryohydrocytosis due to band 3 blackburn; cryohydrocytosis due to band 3 hemel; cryohydrocytosis due to band 3 hurstpierpoint; hereditary cryohydrocytosis with normal stomatin; stomatocytosis, cold-sensitive","Curated_Disease_Description_Source__c":"MEDGEN:C1861453","Curated_Disease_Description__c":"Cryohydrocytosis is an exceedingly rare condition characterized by a mild stomatocytic hemolytic state with hyperbilirubinemia. A hallmark of this condition is that red blood cells (RBCs) lyse on storage at 4 degrees centigrade. RBC cation permeability is increased at 37 degrees centigrade, and the cells also accumulate sodium in the cold (summary by Coles et al., 1999). Patients present with fatigue, mild anemia, and pseudohyperkalemia due to a potassium leak from the RBCs (summary by Bogdanova et al., 2010).For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:398088","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008494","ORPHANET_ID__c":"ORPHA:398088","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Criohidrocitosis hereditaria con estomatina normal","Spanish_Description_Source__c":"ORPHA:398088","Spanish_Description__c":"Es una anemia hemolítica hereditaria poco frecuente debida a una anomalía de la membrana eritrocitaria. Está caracterizada por fatiga, anemia leve y pseudohiperpotasemia debida a una pérdida de potasio de los glóbulos rojos. Una característica de esta enfermedad es que los glóbulos rojos se lisan al almacenarlos a 4 grados centígrados.","Spanish_Disease_Name__c":"criohidrocitosis hereditaria con estomatina normal","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":"Cryohydrocytosis is an exceedingly rare condition characterized by a mild stomatocytic hemolytic state with hyperbilirubinemia. A hallmark of this condition is that red blood cells (RBCs) lyse on storage at 4 degrees centigrade. RBC cation permeability is increased at 37 degrees centigrade, and the cells also accumulate sodium in the cold (summary by Coles et al., 1999). Patients present with fatigue, mild anemia, and pseudohyperkalemia due to a potassium leak from the RBCs (summary by Bogdanova et al., 2010).For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380.","Curated_Disease_Description_Source__c":"MEDGEN:C1861453","GARD_Synonym__c":"chc; cryohydrocytosis due to band 3 blackburn; cryohydrocytosis due to band 3 hemel; cryohydrocytosis due to band 3 hurstpierpoint; hereditary cryohydrocytosis with normal stomatin; stomatocytosis, cold-sensitive","Name":"Cryohydrocytosis","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:398088"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1861453"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010184","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861453","Source__c":"C1861453","Xref__c":"C1861453"},{"URL__c":"https://www.orpha.net/en/disease/detail/398088","Source__c":"C1861453; MONDO:0008494","Xref__c":"ORPHA:398088"},{"URL__c":"https://www.omim.org/entry/185020","Source__c":"C1861453; MONDO:0008494; ORPHA:398088","Xref__c":"OMIM:185020"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535827","Source__c":"MONDO:0008494","Xref__c":"C535827"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=396137","Source__c":"C1861453","Xref__c":"MEDGEN:396137"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008494","Source__c":"GARD:0010184","Xref__c":"MONDO:0008494"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC4A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc4a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:185020","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:185020","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:185020","Feature__r":{"HPO_Description__c":"The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004446","HPO_Synonym__c":"erythrocyte stomatocytes; Red cell stomatocytosis","HPO_Name__c":"Stomatocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:185020","Feature__r":{"HPO_Description__c":"Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:4000194","HPO_Name__c":"Pseudohyperkalemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:185020","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["chc"," cryohydrocytosis due to band 3 blackburn"," cryohydrocytosis due to band 3 hemel"," cryohydrocytosis due to band 3 hurstpierpoint"," hereditary cryohydrocytosis with normal stomatin"," stomatocytosis, cold-sensitive"]}