elliptocytosis 2
MONDO:0007533Mondo
Findings
No curated finding names elliptocytosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0007533), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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
- Hemolytic anemiaHPOHP:0001878
- Neonatal hyperbilirubinemiaHPOHP:0003265
- Neonatal onset
- ReticulocytosisHPOHP:0001923
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.
- SPTA1HGNC:11272
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
4 names
Resolves to: elliptocytosis 2
- Also called
- elliptocytosis type 2elliptocytosis-2hereditary elliptocytosis caused by mutation in SPTA1SPTA1 hereditary elliptocytosis