Phenotypes associated with the disease anemia, congenital dyserythropoietic, type IVb (OMIM:620969):
- Decreased mean corpuscular volume (HP:0025066): A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). Evidence: PCS. Frequency: 3/4. (PMID:24443441)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/8. (PMID:24443441)
- Hypersplenism (HP:0001971): A malfunctioning of the spleen in which it prematurely destroys red blood cells. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- 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: PCS. Frequency: 1/1. (PMID:24443441)
- Increased total bilirubin (HP:0003573): Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. Evidence: PCS. Frequency: 8/8. (PMID:24443441)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- Elevated circulating erythropoietin concentration (HP:0033644): Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. Evidence: PCS. Frequency: 3/3. (PMID:24443441)
- Erythroid dysplasia (HP:0031688): Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. Evidence: PCS. Frequency: 2/2. (PMID:24443441)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 7/8. (PMID:24443441)
- Erythroid hyperplasia (HP:0012132): Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. Evidence: PCS. Frequency: 3/3. (PMID:24443441)
- Leukemia (HP:0001909): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 6/6. (PMID:24443441)
- Hemoglobin Barts (HP:0005507): Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues. Evidence: PCS. Frequency: 4/4. (PMID:24443441)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: PCS. Frequency: 7/8. (PMID:24443441)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- Target cells (HP:0034280): Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target. Evidence: PCS. Frequency: 1/2. (PMID:24443441)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/8. (PMID:24443441)
- Decreased circulating haptoglobin concentration (HP:0020181): The concentration of haptoglobin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 7/7. (PMID:24443441)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 6/8. (PMID:24443441)
- Polychromasia (HP:0034609): Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia. Evidence: PCS. Frequency: 2/2. (PMID:24443441)
- Persistence of hemoglobin F (HP:0011904): Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. Evidence: PCS. Frequency: 6/6. (PMID:24443441)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- Absence of Lutheran antigen on erythrocytes (HP:0010971): Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. Evidence: PCS. Frequency: 0/8. (PMID:24443441)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- Malaise (HP:0033834): A feeling of general discomfort, weakness, or lack of health. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- Circulating nucleated red blood cells (HP:0033281): The presence of nucleated red blood cells in the peripheral blood circulation. Evidence: PCS. Frequency: 2/2. (PMID:24443441)
- Conjugated hyperbilirubinemia (HP:0002908). Evidence: PCS. Frequency: 8/8. (PMID:24443441)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. Frequency: 2/2. (PMID:24443441)
- Acute pancreatitis (HP:0001735): A acute form of pancreatitis. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- Decreased mean corpuscular hemoglobin concentration (HP:0025547): A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. Evidence: PCS. Frequency: 3/3. (PMID:24443441)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:24443441)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- Anisopoikilocytosis (HP:0004823): A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. Evidence: PCS. Frequency: 2/2. (PMID:24443441)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: PCS. Frequency: 5/5. (PMID:24443441)
- Poikilocytosis (HP:0004447): The presence of abnormally shaped erythrocytes. Evidence: PCS. Frequency: 1/1. (PMID:24443441)
- Reduced red cell pyruvate kinase level (HP:0025109): Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. Evidence: PCS. Frequency: 6/6. (PMID:24443441)