dehydrated hereditary stomatocytosis 2
Findings
No curated finding names dehydrated hereditary stomatocytosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014737), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- AcanthocytosisHPOHP:0001927
- 3 of 3 reported patients
- AnisopoikilocytosisHPOHP:0004823
- 3 of 3 reported patients
- Bite cellsHPOHP:0020122
- 3 of 3 reported patients
- Hemolytic anemiaHPOHP:0001878
- 4 of 4 reported patients · Congenital onset
- Increased mean corpuscular hemoglobin concentrationHPOHP:0025548
- 4 of 4 reported patients
- ReticulocytosisHPOHP:0001923
- 4 of 4 reported patients
- SplenomegalyHPO
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.
- KCNN4HGNC:6293
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
5 names
Resolves to: dehydrated hereditary stomatocytosis 2
- Also called
- dehydrated hereditary stomatocytosis 2; DHS2dehydrated hereditary stomatocytosis caused by mutation in KCNN4Dehydrated hereditary stomatocytosis type 2DHS2KCNN4 dehydrated hereditary stomatocytosis