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dehydrated hereditary stomatocytosis 1
Summary
- Synonym
-
- PSHK1
- dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
- pseudohyperkalemia edinburgh
- pseudohyperkalemia familial 1, due to red cell leak
- Definition
- A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3.
- Super Class
- autosomal dominant disease dehydrated hereditary stomatocytosis
External Links
- Disease Ontology
- DOID:0111576
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92508 | Piezo-type mechanosensitive ion channel component 1 |
