Phenotypes associated with the disease glucocorticoid deficiency 4 (OMIM:614736):
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 0/15. (PMID:22634753)
- Seizure (HP:0001250): 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: IEA. (OMIM:614736)
- Increased circulating ACTH level (HP:0003154): An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. Evidence: PCS. Frequency: 15/15. (PMID:22634753)
- Abnormal circulating renin concentration (HP:0040084): A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. Evidence: PCS. Frequency: 0/15. (PMID:22634753)
- Abnormal circulating aldosterone concentration (HP:0040085). Evidence: PCS. Frequency: 0/15. (PMID:22634753)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: PCS. Frequency: 15/15. (PMID:22634753)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. (OMIM:614736)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614736)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 0/15. (PMID:22634753)
- 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:22634753)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: TAS. (OMIM:614736)
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614736)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614736)
- Renal salt wasting (HP:0000127): A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614736)
- Hypoglycemic coma (HP:0001325): Coma induced by low blood sugar. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:614736)