Human disease
anemia, congenital dyserythropoietic, type IVa
Mondo defines it as: “An autosomal dominant congenital dyserythropoietic anemia in which the cause of the disease is a variation in the KLF1 gene. It is characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth, requiring repeated transfusions. The majority of affected individuals experience severe hemolytic anemia, often accompanied by a normal or slightly elevated reticulocyte count, hepatosplenomegaly, hyperbilirubinemia, and persistence of fetal hemoglobin. Hypertrophic cardiomyopathy and occasional dysmorphic features, including large anterior fontanel, hypertelorism, micropenis, and hypospadias, have also been reported. All documented cases to date share the same dominant-negative missense variant, E325K, in the KLF1 gene (19p13.2).”
2 disease groups in OMIA reach this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 313 | Congenital dyserythropoietic anaemia with dyskeratosis and progressive alopecia | OMIA's OMIM numbers | 1 | Human disease |
9.0
|
| 2300 | Anaemia, congenital dyserythropoietic | OMIA's OMIM numbers | 1 | Human disease |
9.0
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
Open Targets links none of these groups' human genes to this disease.
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
No drug has been tested for this disease.