Phenotypes associated with the disease mullerian aplasia and hyperandrogenism (OMIM:158330):
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/1. (PMID:15317892)
- Aplasia of the fallopian tube (HP:0032073): Aplasia, that is failure to develop, of the fallopian tube. Evidence: PCS. Frequency: 1/1. (PMID:15317892)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 1/1. (PMID:15317892)
- Aplasia of the uterus (HP:0000151): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: PCS. Frequency: 1/1. (PMID:15317892)
- Abnormal external genitalia morphology (HP:0000811): A structural anomaly of the external genitalia. Evidence: PCS. Frequency: 0/1. (PMID:15317892)
- Aplasia of the vagina (HP:0003250): Aplasia of the vagina. Evidence: PCS. Frequency: 1/1. (PMID:15317892)
- Acne (HP:0001061): A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). Evidence: PCS. Frequency: 1/1. (PMID:15317892)
- Increased circulating dehydroepiandrosterone-sulfate concentration (HP:0034589): Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:15317892)
- 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: PCS. (PMID:15317892)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: Very frequent (HP:0040281). (OMIM:158330)
- Increased circulating androstenedione concentration (HP:0025380): Increased concentration of androstenedione in the blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:15317892)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 1/1. (PMID:15317892)