Cryohydrocytosis (CHC)

Cryohydrocytosis(来自ICD-11)

别称:

Stomatocytosis, Cold-Sensitive

Chc

Pseudohyperkalemia Cardiff

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cryohydrocytosis, also known as stomatocytosis, cold-sensitive, is related to hereditary stomatocytosis and overhydrated hereditary stomatocytosis. An important gene associated with Cryohydrocytosis is SLC4A1 (Solute Carrier Family 4 Member 1 (Diego Blood Group)), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. Affiliated tissues include bone marrow and bone, and related phenotypes are splenomegaly and hemolytic anemia

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