Phenotypes associated with the disease Congenital dyserythropoietic anemia type III (ORPHA:98870):
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98870)
- Poikilocytosis (HP:0004447): The presence of abnormally shaped erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98870)
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:98870)
- Abnormal erythrocyte morphology (HP:0001877): Any structural abnormality of erythrocytes (red-blood cells). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98870)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98870)
- Elevated circulating iron concentration (HP:0003452): The concentration of iron cation in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98870)
- Increased mean corpuscular volume (HP:0005518): Larger than normal size of erythrocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98870)
- Abnormal erythroid lineage cell morphology (HP:0012130): An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98870)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98870)
- Abnormal proerythroblast morphology (HP:0025035): Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98870)
- Increased total iron binding capacity (HP:0025196): An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98870)
- Abnormal cellular phenotype (HP:0025354): An anomaly of cellular morphology or physiology. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:98870)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98870)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98870)
- Melena (HP:0002249): The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98870)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98870)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98870)
- Post-partum hemorrhage (HP:0011891): Significant maternal hemorrhage/blood loss following deilvery of a child. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98870)
- Oral cavity bleeding (HP:0030140): Recurrent or excessive bleeding from the mouth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:98870)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:98870)