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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:dehydrated hereditary stomatocytosis 1
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Accession:DOID:0111576 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: DHS1;   Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema;   Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis;   PSEUDOHYPERKALEMIA EDINBURGH;   PSHK1;   dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema;   familial pseudohyperkalemia 1, due to red cell leak
 primary_id: MESH:C566369
 alt_id: OMIM:194380
For additional species annotation, visit the Alliance of Genome Resources.



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dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema ClinVar PMID:25741868 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by OMIM:194380
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
OMIM
ClinVar
PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    physical disorder 3103
      congenital hemolytic anemia 156
        dehydrated hereditary stomatocytosis 2
          dehydrated hereditary stomatocytosis 1 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          anemia 432
            normocytic anemia 202
              hemolytic anemia 202
                congenital hemolytic anemia 156
                  hemoglobinopathy 121
                    thalassemia 90
                      alpha thalassemia 57
                        Hydrops Fetalis 47
                          dehydrated hereditary stomatocytosis 1 2
paths to the root