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ONTOLOGY REPORT - ANNOTATIONS


Term:Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema
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Accession:DOID:9005182 term browser browse the term
Definition:Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis. DHS is caused by heterozygous or homozygous mutation in the PIEZO1 gene on chromosome 16q24.
Synonyms:exact_synonym: DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA;   DHS1;   Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis;   PSEUDOHYPERKALEMIA EDINBURGH;   PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK;   PSHK1
 primary_id: MESH:C566369
 alt_id: OMIM:194380;   RDO:0002447;   RDO:0014743
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Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piezo1 piezo-type mechanosensitive ion channel component 1 JBrowse link 19 55,305,494 55,367,680 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15590
    Pathological Conditions, Signs and Symptoms 8013
      Signs and Symptoms 4661
        Edema 85
          Hydrops Fetalis 21
            Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      Hemic and Lymphatic Diseases 1704
        hematopoietic system disease 1426
          anemia 374
            normocytic anemia 174
              hemolytic anemia 174
                congenital hemolytic anemia 124
                  hemoglobinopathy 93
                    thalassemia 63
                      alpha thalassemia 30
                        Hydrops Fetalis 21
                          Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.