Phenotypes associated with the disease congenital disorder of glycosylation, type IIaa (OMIM:620454, an entry in Online Mendelian Inheritance in Man):
- Cholestasis (HP:0001396, a Human Phenotype Ontology term): Impairment of bile flow due to obstruction in bile ducts. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- Hepatic failure (HP:0001399, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- Unilateral renal agenesis (HP:0000122, a Human Phenotype Ontology term): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 1/2. (PMID:34711829)
- Elevated circulating alkaline phosphatase concentration (HP:0003155, a Human Phenotype Ontology term): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- 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:34711829)
- 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: 2/2. (PMID:34711829)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- Nodular regenerative hyperplasia of liver (HP:0011954, a Human Phenotype Ontology term): Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. Evidence: PCS. Frequency: 1/2. (PMID:34711829)
- Motor delay (HP:0001270, a Human Phenotype Ontology term): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 1/2. (PMID:34711829)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 1/2. (PMID:34711829)
- Hyperammonemia (HP:0001987, a Human Phenotype Ontology term): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- Hypoglycemia (HP:0001943, a Human Phenotype Ontology term): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- Narrow chest (HP:0000774, a Human Phenotype Ontology term): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- Biliary cirrhosis (HP:0002613, a Human Phenotype Ontology term): Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. Evidence: PCS. Frequency: 1/2. (PMID:34711829)
- Short long bone (HP:0003026, a Human Phenotype Ontology term): One or more abnormally short long bone. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- 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: 2/2. (PMID:34711829)
- Patent ductus arteriosus after premature birth (HP:0011649, a Human Phenotype Ontology term): Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation. Evidence: PCS. Frequency: 1/2. (PMID:34711829)
- Reduced protein C activity (HP:0005543, a Human Phenotype Ontology term): An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- Hypercholesterolemia (HP:0003124, a Human Phenotype Ontology term): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- Knee flexion contracture (HP:0006380, a Human Phenotype Ontology term): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: PCS. Frequency: 1/2. (PMID:34711829)
- Persistent patent ductus venosus (HP:0012021, a Human Phenotype Ontology term): Persistence of blood flow through the ductus venosus for longer than the normal time after birth. Evidence: PCS. Frequency: 1/2. (PMID:34711829)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:34711829)
- Reduced antithrombin III activity (HP:0001976, a Human Phenotype Ontology term): An abnormality of coagulation related to a decreased concentration of antithrombin-III. Evidence: PCS. Frequency: 2/2. (PMID:34711829)
- Hydronephrosis (HP:0000126, a Human Phenotype Ontology term): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/2. (PMID:34711829)
- Bilateral talipes equinovarus (HP:0001776, a Human Phenotype Ontology term): Bilateral clubfoot deformity. Evidence: PCS. Frequency: 1/2. (PMID:34711829)