Phenotypes associated with the disease premature ovarian failure 5 (OMIM:611548):
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: PCS. Frequency: 1/1. (PMID:17701902)
- Reduced antral follicle count (HP:0033085): A count of antral follicles that is lower than normal for age. Evidence: PCS. (PMID:21837770)
- Secondary amenorrhea (HP:0000869). Evidence: PCS. Frequency: 9/12. (PMID:21837770)
- Streak ovary (HP:0010464): A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. Evidence: PCS. Frequency: 1/12. (PMID:21837770)
- 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:17701902)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 3/12. (PMID:21837770)
- Hypoplasia of the ovary (HP:0008724): Developmental hypoplasia of the ovary. Evidence: PCS. Frequency: 5/12. (PMID:21837770)