anemia, congenital dyserythropoietic, type IVb
MONDO:0975829Mondo
Findings
No curated finding names anemia, congenital dyserythropoietic, type IVb yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
34 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.
- Acute pancreatitisHPOHP:0001735
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 6 of 6 reported patients
- AnisocytosisHPOHP:0011273
- 1 of 1 reported patient
- AnisopoikilocytosisHPOHP:0004823
- 2 of 2 reported patients
- CholelithiasisHPOHP:0001081
- 1 of 1 reported patient
- Circulating nucleated red blood cellsHPOHP:0033281
- 2 of 2 reported patients
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 8 of 8 reported patients
- Decreased circulating haptoglobin concentrationHPOHP:0020181
- 7 of 7 reported patients
- Decreased mean corpuscular hemoglobin concentrationHPOHP:0025547
- 3 of 3 reported patients
- Elevated circulating erythropoietin concentrationHPOHP:0033644
- 3 of 3 reported patients
- Erythroid dysplasiaHPOHP:0031688
- 2 of 2 reported patients
- Erythroid hyperplasiaHPOHP:0012132
- 3 of 3 reported patients
Show the remaining 22
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- Hemoglobin BartsHPOHP:0005507
- 4 of 4 reported patients
- Hemolytic anemiaHPOHP:0001878
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HepatosplenomegalyHPOHP:0001433
- 5 of 5 reported patients
- HypersplenismHPOHP:0001971
- 1 of 1 reported patient
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.
- KLF1HGNC:6345
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of