Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak (PSHK2)

Alias:
Pseudohyperkalemia Cardiff
Familial Pseudohyperkalemia
Pseudohyperkalemia East London
Pseudohyperkalemia Chiswick
Pseudohyperkalemia Falkirk
Pseudohyperkalemia Lille
Cryohydrocytosis, Mild
Pshk2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak, also known as pseudohyperkalemia cardiff, is related to dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema and cryohydrocytosis. An important gene associated with Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis 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 whole blood, and related phenotypes are hyperkalemia and hypertension
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
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2
13
16

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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No data available

Disease Model

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Name
MGI
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Publications
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References Literature

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