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MCID: OVR093
MIFTS: 34
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Overhydrated Hereditary Stomatocytosis
Categories:
Genetic diseases, Blood diseases, Rare diseases
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MalaCards integrated aliases for Overhydrated Hereditary Stomatocytosis:
Characteristics:Orphanet epidemiological data:59
overhydrated hereditary stomatocytosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
some patients experience respiratory infections in association with episodes of jaundice in childhood HPO:32Classifications:
ICD10:
34
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OMIM
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57
Overhydrated hereditary stomatocytosis is a variably compensated macrocytic hemolytic anemia of fluctuating severity, characterized by circulating erythrocytes with slit-like lucencies (stomata) evident on peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell Na+ content with reduced K+ content, with increased ouabain-resistant cation leak fluxes in the presence of presumably compensatory increases in ouabain-sensitive Na(+)-K(+) ATPase activity, and red cell age-dependent loss of stomatin/EBP7.2 (EBP72; 133090) from the erythroid membrane. Clinically, patients with OHST exhibit overhydrated erythrocytes and a temperature-dependent red cell cation leak. The temperature dependence of the leak is 'monotonic' and has a steep slope, reflecting the very large leak at 37 degrees centigrade (summary by Bruce, 2009 and Stewart et al., 2011).
For a discussion of clinical and genetic heterogeneity of the hereditary stomatocytoses, see 194380. (185000)
MalaCards based summary : Overhydrated Hereditary Stomatocytosis, also known as ohst, is related to stomatocytosis i and occipital horn syndrome, and has symptoms including icterus An important gene associated with Overhydrated Hereditary Stomatocytosis is RHAG (Rh Associated Glycoprotein), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Related phenotypes are jaundice and splenomegaly UniProtKB/Swiss-Prot : 75 Overhydrated hereditary stomatocytosis: An autosomal dominant disorder of red cell membrane permeability to monovalent cations, characterized by macrocytic hemolytic anemia of fluctuating severity, circulating erythrocytes with slit-like lucencies (stomata) evident on fixed, stained peripheral blood smears. OHST red cells exhibit cation leak, resulting in elevated cell sodium content with reduced potassium content. The disease is marked by splenomegaly or hepatosplenomegaly, cholelithiasis and a strong tendency for iron overload. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:185000Human phenotypes related to Overhydrated Hereditary Stomatocytosis:32 (show all 9)
UMLS symptoms related to Overhydrated Hereditary Stomatocytosis:icterus GenomeRNAi Phenotypes related to Overhydrated Hereditary Stomatocytosis according to GeneCards Suite gene sharing:26
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Articles related to Overhydrated Hereditary Stomatocytosis:
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Genes related to Overhydrated Hereditary Stomatocytosis (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Overhydrated Hereditary Stomatocytosis:75
ClinVar genetic disease variations for Overhydrated Hereditary Stomatocytosis:6
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Search
GEO
for disease gene expression data for Overhydrated Hereditary Stomatocytosis.
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Pathways related to Overhydrated Hereditary Stomatocytosis according to GeneCards Suite gene sharing:
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Cellular components related to Overhydrated Hereditary Stomatocytosis according to GeneCards Suite gene sharing:
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