Phenotypes associated with the disease immunodeficiency 47 (OMIM:300972, an entry in Online Mendelian Inheritance in Man):
- Hepatic steatosis (HP:0001397, a Human Phenotype Ontology term): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 5/10. (PMID:32216104;PMID:27231034)
- Cholestasis (HP:0001396, a Human Phenotype Ontology term): Impairment of bile flow due to obstruction in bile ducts. Evidence: PCS. Frequency: 2/2. (PMID:32216104)
- Mild intellectual disability (HP:0001256, a Human Phenotype Ontology term): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 6/11. (PMID:27231034)
- Hypermetropia (HP:0000540, a Human Phenotype Ontology term): An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. Evidence: PCS. Frequency: 3/11. (PMID:27231034)
- Seizure (HP:0001250, a Human Phenotype Ontology term): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 6/11. (PMID:27231034)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Hepatic fibrosis (HP:0001395, a Human Phenotype Ontology term): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: PCS. Frequency: 1/2. (PMID:32216104)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/10. (PMID:27231034)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: PCS. Frequency: 11/14. (PMID:29396028;PMID:32216104;PMID:27231034)
- Cirrhosis (HP:0001394, a Human Phenotype Ontology term): 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: PCS. Frequency: 6/8. (PMID:27231034)
- Chronic decreased circulating total IgG concentration (HP:0032134, a Human Phenotype Ontology term): A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. Evidence: PCS. Frequency: 9/10. (PMID:27231034)
- Type II transferrin isoform profile (HP:0012301, a Human Phenotype Ontology term): Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. Evidence: IEA. Frequency: 1/1. (PMID:29396028)
- Elevated circulating alanine aminotransferase concentration (HP:0031964, a Human Phenotype Ontology term): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Abnormal protein N-linked glycosylation (HP:0012347, a Human Phenotype Ontology term): An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. Evidence: PCS. Frequency: 13/13. (PMID:32216104;PMID:27231034)
- Recurrent infections (HP:0002719, a Human Phenotype Ontology term): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 1/3. (PMID:29396028;PMID:32216104)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/10. (PMID:27231034)
- Recurrent bacterial infections (HP:0002718, a Human Phenotype Ontology term): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 11/11. (PMID:27231034)
- Arachnoid cyst (HP:0100702, a Human Phenotype Ontology term): An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Accessory spleen (HP:0001747, a Human Phenotype Ontology term): An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Death in infancy (HP:0001522, a Human Phenotype Ontology term): Death within the first 24 months of life. Evidence: PCS. Frequency: 2/2. (PMID:32216104)
- Elevated circulating hepatic transaminase concentration (HP:0002910, a Human Phenotype Ontology term): 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: PCS. Frequency: 13/13. (PMID:32216104;PMID:27231034)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 8/14. (PMID:29396028;PMID:32216104;PMID:27231034)
- Prolonged neonatal jaundice (HP:0006579, a Human Phenotype Ontology term): 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: 5/11. Onset: Neonatal onset (HP:0003623, a Human Phenotype Ontology term). (PMID:27231034)
- Prolonged neonatal jaundice (HP:0006579, a Human Phenotype Ontology term): 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: 2/2. (PMID:32216104)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/10. (PMID:27231034)
- Cutis laxa (HP:0000973, a Human Phenotype Ontology term): Wrinkled, redundant, inelastic and sagging skin. Evidence: PCS. Frequency: 3/3. (PMID:29396028;PMID:32216104)
- Decreased circulating IgM concentration (HP:0002850, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 5/8. (PMID:27231034)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956, a Human Phenotype Ontology term): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Decreased circulating immunoglobulin concentration (HP:0004313, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. Frequency: 11/13. (PMID:32216104;PMID:27231034)
- Decreased total leukocyte count (HP:0001882, a Human Phenotype Ontology term): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 6/11. (PMID:27231034)
- Hypercholesterolemia (HP:0003124, a Human Phenotype Ontology term): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:29396028)
- Chronic decreased circulating IgA concentration (HP:0003460, a Human Phenotype Ontology term): Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). Evidence: PCS. Frequency: 5/9. (PMID:29396028;PMID:27231034)
- Decreased circulating copper concentration (HP:0011967, a Human Phenotype Ontology term): The concentration of copper cation in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 12/12. (PMID:32216104;PMID:27231034)
- Hepatic bridging fibrosis (HP:0012852, a Human Phenotype Ontology term): Hepatic fibrosis that reaches from a portal area to another portal area. Evidence: PCS. Frequency: 1/8. (PMID:27231034)
- Tricuspid regurgitation (HP:0005180, a Human Phenotype Ontology term): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Abnormal protein O-linked glycosylation (HP:0012358, a Human Phenotype Ontology term): An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. Evidence: PCS. Frequency: 11/13. (PMID:32216104;PMID:27231034)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:27231034)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 3/11. (PMID:27231034)
- Exocrine pancreatic insufficiency (HP:0001738, a Human Phenotype Ontology term): Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Decreased circulating total IgG concentration (HP:0032132, a Human Phenotype Ontology term): A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Hypotelorism (HP:0000601, a Human Phenotype Ontology term): Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- High forehead (HP:0000348, a Human Phenotype Ontology term): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Normocytic anemia (HP:0001897, a Human Phenotype Ontology term): A kind of anemia in which the volume of the red blood cells is normal. Evidence: PCS. Frequency: 1/1. (PMID:29396028)
- Chronic diarrhea (HP:0002028, a Human Phenotype Ontology term): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 1/1. (PMID:29396028)