POF16
MCID: PRM344
MIFTS: 17
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Premature Ovarian Failure 16 (POF16)
Categories:
Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Premature Ovarian Failure 16:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
premature ovarian failure diagnosed in 4th decade of life based on report of 1 family (last curated december 2019) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Reproductive diseases Endocrine diseases Bone diseases |
OMIM® :
57
Premature ovarian failure-16 (POF16) is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone (FSH; see 136530) levels and low estradiol levels. Ovaries are smaller than normal and show a solid echo pattern with no antral follicle (Zhang et al., 2018). (618723) (Updated 05-Mar-2021)
MalaCards based summary : Premature Ovarian Failure 16, is also known as pof16. An important gene associated with Premature Ovarian Failure 16 is BNC1 (Basonuclin 1). Related phenotypes are reduced antral follicle count and premature ovarian insufficiency UniProtKB/Swiss-Prot : 73 Premature ovarian failure 16: An autosomal dominant form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. |
Human phenotypes related to Premature Ovarian Failure 16:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618723 (Updated 05-Mar-2021) |
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Articles related to Premature Ovarian Failure 16:
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ClinVar genetic disease variations for Premature Ovarian Failure 16:6
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Search
GEO
for disease gene expression data for Premature Ovarian Failure 16.
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