Phenotypes associated with the disease Transaldolase deficiency (ORPHA:101028):
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101028)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101028)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101028)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101028)
- Abnormal circulating glutamine concentration (HP:0010903): Any deviation from the normal concentration of glutamine in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101028)
- Increased serum bile acid concentration (HP:0012202): An increase in the concentration of bile acid in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:101028)
- Abnormal clitoris morphology (HP:0000056): Any structural abnormality of the clitoris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101028)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101028)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101028)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101028)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101028)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101028)
- Premature skin wrinkling (HP:0100678): The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:101028)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101028)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101028)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101028)
- Abnormal respiratory system physiology (HP:0002795): Abnormal function of the respiratory system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101028)
- Biventricular hypertrophy (HP:0200128): Thickening of the heart walls in both ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:101028)