elliptocytosis 3
MONDO:0054780Mondo
Findings
No curated finding names elliptocytosis 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- ElliptocytosisHPOHP:0004445
- 3 of 3 reported patients
- Decreased mean corpuscular volumeHPOHP:0025066
- 1 of 3 reported patients
- Chronic hemolytic anemiaHPOHP:0004870
- Intermittent jaundiceHPOHP:0001046
- PyropoikilocytosisHPOHP:0004839
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.
- SPTBHGNC:11274
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: elliptocytosis 3
- Also called
- anemia, neonatal hemolytic, fatal or near-fatalelliptocytosis-3