Phenotypes associated with the disease glucocorticoid deficiency 1 (OMIM:202200):
- Tall stature (HP:0000098): A height above that which is expected according to age and gender norms. Evidence: IEA. (OMIM:202200)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:8227361)
- 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:202200)
- 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: 1/1. (PMID:8227361)
- 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: 0/1. (PMID:8227361)
- Abnormal circulating aldosterone concentration (HP:0040085). Evidence: PCS. Frequency: 0/1. (PMID:8227361)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: PCS. Frequency: 1/1. (PMID:8227361)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:202200)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: IEA. (OMIM:202200)
- Abnormal response to ACTH stimulation test (HP:0031074): An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. Evidence: PCS. Frequency: 1/1. (PMID:8227361)
- Generalized hyperpigmentation (HP:0007440). Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:8227361)
- Recurrent hypoglycemia (HP:0001988): Recurrent episodes of decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 1/1. (PMID:8227361)
- 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:8227361)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: IEA. (OMIM:202200)
- Accelerated skeletal maturation (HP:0005616): An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: IEA. (OMIM:202200)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: PCS. Frequency: 1/1. (PMID:8227361)