Phenotypes associated with the disease corticosteroid-binding globulin deficiency (OMIM:611489):
- Increased muscle fatiguability (HP:0003750): An abnormal, increased fatiguability of the musculature. Evidence: IEA. (OMIM:611489)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/1. (PMID:10634411)
- Decreased circulating corticosteroid-binding globulin concentration (HP:6000243): The concentration of corticosteroid-binding globulin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:11502797)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: IEA. (OMIM:611489)
- Decreased urinary potassium (HP:0012364): A decreased concentration of potassium(1+) in the urine. Evidence: PCS. Frequency: 1/1. (PMID:10634411)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: PCS. Frequency: 1/1. (PMID:10634411)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:10634411)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:611489)
- 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:10634411)
- Hypokalemia (HP:0002900): The concentration of potassium(1+) in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:10634411)
- Hypotension (HP:0002615): Low Blood Pressure, vascular hypotension. Evidence: PCS. Frequency: 1/1. (PMID:10634411)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:611489)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: PCS. Frequency: 1/1. (PMID:10634411)