erythrocytosis, familial, 7
MONDO:0054802Mondo
Findings
No curated finding names erythrocytosis, familial, 7 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
3 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.
- Increased circulating hemoglobin concentrationHPOHP:0001900
- Increased hematocritHPOHP:0001899
- PolycythemiaHPOHP:0001901
Genes
2 genes
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.
- HBA1; HBA2HGNC:4823
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2023
- HBA1; HBA2HGNC:4824
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
1 name
Resolves to: erythrocytosis, familial, 7
- Also called
- erythrocytosis 7