Comparative

OMIA group 313

Congenital dyserythropoietic anaemia with dyskeratosis and progressive alopecia

The chain reaches the human disease anemia, congenital dyserythropoietic, type IVa, which Mondo defines 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).” It reaches 3 more human diseases, listed below.

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

  1. Animal disease

    Reached

    OMIA records it in 1 species entry marked as a defect.

  2. Human disease

    Reached

    4 Mondo diseases.

  3. Human gene

    Stopped here

    No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.

  4. Target evidence

    Not reached

    The chain stopped before this step.

  5. Drugs

    Not reached

    The chain stopped before this step.

The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

congenital dyserythropoietic anemia type 2

24.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs A drug has reached phase 2 for this disease 15.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10
anemia, congenital dyserythropoietic, type 1a

9.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs No drug has been tested for this disease, and none acts on its genes 0.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10
anemia, congenital dyserythropoietic, type IVa

9.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs No drug has been tested for this disease, and none acts on its genes 0.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10
congenital dyserythropoietic anemia type 3

9.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs No drug has been tested for this disease, and none acts on its genes 0.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species Scientific name OMIA entry A defect
domestic cattle Bos taurus OMIA:000313-9913 Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species Animal gene Human gene Ortholog
domestic cattle No gene OMIA records no gene for this species entry.

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

Mondo disease Name Found by
MONDO:0009135 anemia, congenital dyserythropoietic, type 1a OMIA's OMIM numbers
MONDO:0013355 anemia, congenital dyserythropoietic, type IVa 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). OMIA's OMIM numbers
MONDO:0009134 congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. OMIA's OMIM numbers
MONDO:0007109 congenital dyserythropoietic anemia type 3 Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia. OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

The chain did not reach target evidence.

Drugs

The chain did not reach the drugs.