Details of Disease

General Information of Disease (ID: DISIAVTV)

Disease Name Dehydrated hereditary stomatocytosis 2
Synonyms
Desiccytosis Gardos; xerocytosis Gardos; dehydrated hereditary stomatocytosis caused by mutation in KCNN4; Dehydrated hereditary stomatocytosis type 2; DHS2; KCNN4 dehydrated hereditary stomatocytosis; dehydrated hereditary stomatocytosis 2; DHS2; Dehydrated hereditary stomatocytosis 2
Definition Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.
Disease Hierarchy
DIS487SI: Hereditary haemolytic anemia
DISGQT6H: Dehydrated hereditary stomatocytosis
DISIAVTV: Dehydrated hereditary stomatocytosis 2
Disease Identifiers
MONDO ID
MONDO_0014737
UMLS CUI
C4225242
OMIM ID
616689
MedGen ID
908701

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KCNN4 TT7M9I6 Strong Autosomal dominant [1]
KCNN4 TT7M9I6 Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCNN4 OTQKQ346 Strong Autosomal dominant [1]
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References

1 A mutation in the Gardos channel is associated with hereditary xerocytosis. Blood. 2015 Sep 10;126(11):1273-80. doi: 10.1182/blood-2015-04-642496. Epub 2015 Jul 6.