hereditary spherocytosis type 1
Findings
No curated finding names hereditary spherocytosis type 1 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 ANK1 gene.
Definition from the Mondo Disease Ontology (MONDO:0008447), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
6 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
- 14 of 14 reported patients
- ReticulocytosisHPOHP:0001923
- 14 of 14 reported patients
- SpherocytosisHPOHP:0004444
- 13 of 14 reported patients
- JaundiceHPOHP:0000952
- 12 of 14 reported patients
- Increased red cell osmotic fragilityHPOHP:0005502
- 7 of 12 reported patients
- SplenomegalyHPOHP:0001744
- 6 of 13 reported patients
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.
- ANK1HGNC:492
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · PanelApp Australia · Semidominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: hereditary spherocytosis type 1
- Also called
- ANK1 hereditary spherocytosishereditary spherocytosis caused by mutation in ANK1HS1SPH1