Details of Disease

General Information of Disease (ID: DIS6TF7I)

Disease Name Overhydrated hereditary stomatocytosis
Synonyms
OHST; OHS; stomatocytosis I; OVERHYDRATED hereditary stomatocytosis; stomatocytosis 1; Potassium sodium disorder of erythrocyte; Potassium-sodium disorder of erythrocyte; overhydrated hereditary stomatocytosis
Definition Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.
Disease Hierarchy
DIS4TC4I: Hereditary stomatocytosis
DIS6TF7I: Overhydrated hereditary stomatocytosis
Disease Identifiers
MONDO ID
MONDO_0008493
MESH ID
C566111
UMLS CUI
C1861455
OMIM ID
185000
MedGen ID
348876
Orphanet ID
3203
SNOMED CT ID
722125003

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
RHAG TTVHFE8 Strong Autosomal dominant [1]
RHAG TTVHFE8 Strong GermlineCausalMutation [2]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DESI1 OTFNIW98 Limited Biomarker [3]
PAPOLA OTPHD65D Limited Biomarker [4]
SLC35G1 OTKZUA8O Limited Biomarker [3]
CENPJ OTZCQZN5 Strong Biomarker [5]
RHAG OTJZWXE8 Strong Autosomal dominant [1]
STOM OTC8R6EH Strong Altered Expression [6]
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⏷ Show the Full List of 6 DOT(s)

References

1 The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. Blood. 2009 Feb 5;113(6):1350-7. doi: 10.1182/blood-2008-07-171140. Epub 2008 Oct 17.
2 Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. Blood Rev. 2013 Jul;27(4):167-78. doi: 10.1016/j.blre.2013.04.003. Epub 2013 May 9.
3 DNA Methylation Profiling of Blood Monocytes in Patients With Obesity Hypoventilation Syndrome: Effect of Positive Airway Pressure Treatment.Chest. 2016 Jul;150(1):91-101. doi: 10.1016/j.chest.2016.02.648. Epub 2016 Feb 26.
4 The prevalence of pulmonary hypertension in patients with obesity hypoventilation syndrome: a prospective observational study.J Thorac Dis. 2017 Mar;9(3):779-788. doi: 10.21037/jtd.2017.03.21.
5 The Role of Positive Airway Pressure Therapy in Adults with Obesity Hypoventilation Syndrome. A Systematic Review and Meta-Analysis.Ann Am Thorac Soc. 2020 Mar;17(3):344-360. doi: 10.1513/AnnalsATS.201907-528OC.
6 The "stomatin" gene and protein in overhydrated hereditary stomatocytosis.Blood. 2003 Sep 15;102(6):2268-77. doi: 10.1182/blood-2002-06-1705. Epub 2003 May 15.