overhydrated hereditary stomatocytosis
Findings
No curated finding names overhydrated hereditary stomatocytosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.
Definition from the Mondo Disease Ontology (MONDO:0008493), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hemolytic anemiaHPOHP:0001878
- 17 of 17 reported patients
- Very frequent (80% to 99% of cases)
- Increased red cell osmotic fragilityHPOHP:0005502
- 17 of 17 reported patients
- Very frequent (80% to 99% of cases)
- ReticulocytosisHPOHP:0001923
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- StomatocytosisHPOHP:0004446
- 17 of 17 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal mean corpuscular volumeHPOHP:0025065
- Very frequent (80% to 99% of cases)
- Decreased mean corpuscular hemoglobin concentrationHPOHP:0025547
Show the remaining 5
- SplenomegalyHPOHP:0001744
- Occasional (5% to 29% of cases)
- FatigueHPOHP:0012378
- 1 of 4 reported patients
- Increased mean corpuscular volumeHPOHP:0005518
- 1 of 4 reported patients
- Prolonged neonatal jaundiceHPOHP:0006579
- 1 of 4 reported patients
- HyperbilirubinemiaHPOHP:0002904
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RHAGHGNC:10006
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021