Hereditary Stomatocytosis

Alias:
Hereditary Stomatocytic Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hereditary Stomatocytosis, also known as hereditary stomatocytic disease, is related to overhydrated hereditary stomatocytosis and dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema. An important gene associated with Hereditary Stomatocytosis is PIEZO1 (Piezo Type Mechanosensitive Ion Channel Component 1 (Er Blood Group)). Affiliated tissues include bone marrow and endothelial, and related phenotype is hematopoietic system.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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4
31
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Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
Strain of Origin
Publications
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References Literature

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