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Ontology Browser

Term:
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema (DOID:9005182)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly  
Dehydrated Hereditary Stomatocytosis 2  
Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema  
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.
Greenberg Dysplasia  
Hydrops Fetalis, Nonimmune, and/or Atrial Septal Defect  
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Nuchal Bleb, Familial 
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak  

Synonyms
Exact Synonyms: 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 IDs: MESH:C566369
Alternate IDs: OMIM:194380 ;   RDO:0002447 ;   RDO:0014743

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.