{"Name":"Myelodysplastic syndrome associated with isolated del(5q)","DiseaseID__c":"GARD:0008723","id":8723,"encodedName":"myelodysplastic-syndrome-associated-with-isolated-del5q","IsDeleted":false,"Disease_Name_Full__c":"Myelodysplastic syndrome associated with isolated del(5q)","Xref_IDs__c":"277597005; C1292779; C535323; C6867; D46.C; DOID:0090016; MEDGEN:226950; MONDO:0007925; OMIM:153550; ORPHA:86841","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007925","Disease_Description__c":"A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001)","GARD_Name__c":"Myelodysplastic syndrome associated with isolated del(5q)","GARD_Synonym__c":"5q minus syndrome; 5q- syndrome; 5q- syndrome, refractory macrocytic anaemia due to 5q deletion; 5q- syndrome, refractory macrocytic anemia due to 5q deletion; chromosome 5q deletion syndrome; macrocytic anemia, refractory, due to 5q deletion, somatic; myelodysplastic syndrome associated with isolated del (5q) chromosome abnormality; myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality; myelodysplastic syndrome with 5q deletion; myelodysplastic syndrome with 5q- syndrome; myelodysplastic syndrome with isolated del (5q); myelodysplastic syndrome with isolated del(5q); myelodysplastic syndrome with isolated del(5q) chromosomal abnormality; myelodysplastic syndrome with isolated deletion 5q","Curated_Disease_Description_Source__c":"MONDO:0007925","Curated_Disease_Description__c":"5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is particularly affected, leading to a shortage of these cells (anemia). In addition, the red blood cells that are present are unusually large (macrocytic). Although many people with 5q- syndrome have no symptoms related to anemia, especially in the early stages of the condition, some affected individuals develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance (pallor) as the condition worsens. Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. A common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes. In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of platelets. MDS is considered a slow-growing (chronic) blood cancer. It can progress to a fast-growing blood cancer called acute myeloid leukemia (AML). Progression to AML occurs less commonly in people with 5q- syndrome than in those with other forms of MDS.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:86841","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007925","ORPHANET_ID__c":"ORPHA:86841","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome mielodisplásico asociado a una anomalía cromosómica aislada del(5q)","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome mielodisplásico asociado a una anomalía cromosómica aislada del(5q)","Spanish_GARD_Synonym__c":"síndrome 5q-","Category_Linearization__c":"ORPHA:250908","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":"5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is particularly affected, leading to a shortage of these cells (anemia). In addition, the red blood cells that are present are unusually large (macrocytic). Although many people with 5q- syndrome have no symptoms related to anemia, especially in the early stages of the condition, some affected individuals develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance (pallor) as the condition worsens. Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. A common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes. In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of platelets. MDS is considered a slow-growing (chronic) blood cancer. It can progress to a fast-growing blood cancer called acute myeloid leukemia (AML). Progression to AML occurs less commonly in people with 5q- syndrome than in those with other forms of MDS.","Curated_Disease_Description_Source__c":"MONDO:0007925","GARD_Synonym__c":"5q minus syndrome; 5q- syndrome; 5q- syndrome, refractory macrocytic anaemia due to 5q deletion; 5q- syndrome, refractory macrocytic anemia due to 5q deletion; chromosome 5q deletion syndrome; macrocytic anemia, refractory, due to 5q deletion, somatic; myelodysplastic syndrome associated with isolated del (5q) chromosome abnormality; myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality; myelodysplastic syndrome with 5q deletion; myelodysplastic syndrome with 5q- syndrome; myelodysplastic syndrome with isolated del (5q); myelodysplastic syndrome with isolated del(5q); myelodysplastic syndrome with isolated del(5q) chromosomal abnormality; myelodysplastic syndrome with isolated deletion 5q","Name":"Myelodysplastic syndrome associated with isolated del(5q)","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Myeloid hemopathy","Tag_Category__c":"Account","curated_tag_name":"Blood or bone marrow disease"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:86841"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008723","Source__c":"RareSource"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6867","Source__c":"C1292779; MONDO:0007925","Xref__c":"C6867"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0090016","Source__c":"MONDO:0007925","Xref__c":"DOID:0090016"},{"URL__c":"https://www.omim.org/entry/153550","Source__c":"C1292779; MONDO:0007925; ORPHA:86841","Xref__c":"OMIM:153550"},{"URL__c":"https://www.orpha.net/en/disease/detail/86841","Source__c":"C1292779; MONDO:0007925; ORPHA:86841","Xref__c":"ORPHA:86841"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=277597005","Source__c":"C1292779; MONDO:0007925","Xref__c":"277597005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535323","Source__c":"MONDO:0007925","Xref__c":"C535323"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D46.C","Source__c":"MONDO:0007925","Xref__c":"D46.C"},{"URL__c":"https://medlineplus.gov/genetics/condition/5q-minus-syndrome","Source__c":"GARD:0008723","Xref__c":"https://medlineplus.gov/genetics/condition/5q-minus-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007925","Source__c":"GARD:0008723","Xref__c":"MONDO:0007925"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128837000","Source__c":"C1292779","Xref__c":"128837000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=226950","Source__c":"C1292779","Xref__c":"MEDGEN:226950"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1292779","Source__c":"C1292779","Xref__c":"C1292779"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RPS14","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rps14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal decreased number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001882","HPO_Synonym__c":"Decreased blood leukocyte number; Leukopenia; Low white blood cell count","HPO_Name__c":"Decreased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012148","HPO_Name__c":"Multiple lineage myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002863","HPO_Synonym__c":"Myelodysplastic syndrome","HPO_Name__c":"Myelodysplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased 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:0012133","HPO_Synonym__c":"Erythroblastopenia","HPO_Name__c":"Erythroid hypoplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012129","HPO_Name__c":"Abnormality of bone marrow stromal cells","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031020","HPO_Synonym__c":"Myeloid hyperplasia","HPO_Name__c":"Bone marrow hypercellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005528","HPO_Synonym__c":"Bone marrow failure; Bone marrow hypoplasia; Hypoplastic bone marrow; Myeloid hypoplasia","HPO_Name__c":"Bone marrow hypocellularity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001972","HPO_Name__c":"Macrocytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012143","HPO_Synonym__c":"Abnormality of cells of the megakaryocyte lineage","HPO_Name__c":"Abnormal megakaryocyte morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased variability in the size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011273","HPO_Synonym__c":"Unequal size of red blood cells","HPO_Name__c":"Anisocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased numbers of platelets in the peripheral blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001894","HPO_Synonym__c":"Increased number of platelets in blood; Increased platelet count","HPO_Name__c":"Thrombocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of leukemia characterized by overproduction of an early myeloid cell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004808","HPO_Synonym__c":"Acute myeloblastic leukemia; Acute myelocytic leukemia; Acute myelogenous leukemia; AML","HPO_Name__c":"Acute myeloid leukemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal form or size of neutrophils.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011992","HPO_Synonym__c":"Abnormality of neutrophil morphology","HPO_Name__c":"Abnormal neutrophil morphology","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031385","HPO_Name__c":"Megakaryocyte nucleus hypolobulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of erythrocytes (red-blood cells).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001877","HPO_Synonym__c":"Abnormality of erythrocytes; Abnormality of red blood cells","HPO_Name__c":"Abnormal erythrocyte morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031035","HPO_Name__c":"Chronic infection","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:86841","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated level of the enzyme lactate dehydrogenase in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025435","HPO_Synonym__c":"Increased circulating LDH concentration; Increased lactate dehydrogenase level","HPO_Name__c":"Increased circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology"],"Disease Category":["Cancer","Hematology"],"Account":["Myeloid hemopathy"]},"synonyms":["5q minus syndrome"," 5q- syndrome"," 5q- syndrome, refractory macrocytic anaemia due to 5q deletion"," 5q- syndrome, refractory macrocytic anemia due to 5q deletion"," chromosome 5q deletion syndrome"," macrocytic anemia, refractory, due to 5q deletion, somatic"," myelodysplastic syndrome associated with isolated del (5q) chromosome abnormality"," myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"," myelodysplastic syndrome with 5q deletion"," myelodysplastic syndrome with 5q- syndrome"," myelodysplastic syndrome with isolated del (5q)"," myelodysplastic syndrome with isolated del(5q)"," myelodysplastic syndrome with isolated del(5q) chromosomal abnormality"," myelodysplastic syndrome with isolated deletion 5q"]}