Details of Disease

General Information of Disease (ID: DISROQZH)

Disease Name Familial pseudohyperkalemia
Synonyms pseudohyperkalemia Chiswick; pseudohyperkalemia Lille; pseudohyperkalemia Falkirk; cryohydrocytosis, mild; pseudohyperkalemia East London; pseudohyperkalemia, familial, 2, due to red cell leak; PSHK2
Definition
An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DIS4TC4I: Hereditary stomatocytosis
DISROQZH: Familial pseudohyperkalemia
Disease Identifiers
MONDO ID
MONDO_0012204
MESH ID
C563785
UMLS CUI
C1836705
OMIM ID
609153
MedGen ID
324588
Orphanet ID
90044

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
ABCB6 DTF9Y2V Limited Biomarker [1]
ABCB6 DTF9Y2V Supportive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ABCB6 OTPGZFES Supportive Autosomal dominant [2]
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References

1 Mitochondrial medicine in the omics era.Lancet. 2018 Jun 23;391(10139):2560-2574. doi: 10.1016/S0140-6736(18)30727-X. Epub 2018 Jun 18.
2 Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol. 2013 Jan;88(1):66-72. doi: 10.1002/ajh.23357. Epub 2012 Nov 24.