hereditary spherocytosis type 5
Findings
No curated finding names hereditary spherocytosis type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene.
Definition from the Mondo Disease Ontology (MONDO:0012985), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- JaundiceHPOHP:0000952
- 1 of 1 reported patient
- ReticulocytosisHPOHP:0001923
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
- Abnormal leukocyte countHPOHP:0011893
- 0 of 1 reported patient
- Abnormal platelet countHPOHP:0011873
- 0 of 1 reported patient
- Hemolytic anemiaHPOHP:0001878
- Increased red cell osmotic fragilityHPOHP:0005502
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.
- EPB42HGNC:3381
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: hereditary spherocytosis type 5
- Also called
- EPB42 hereditary spherocytosishereditary spherocytosis caused by mutation in EPB42HS5SPH5