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MCID: PRM191
MIFTS: 17
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Premature Ovarian Failure 9
Categories:
Genetic diseases, Endocrine diseases, Reproductive diseases
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MalaCards integrated aliases for Premature Ovarian Failure 9:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
two chinese sisters and one chinese woman have been described (last curated april 2014) HPO:32Classifications: |
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OMIM
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57
Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years (summary by Wang et al., 2014).
For a general phenotypic description and discussion of the genetic heterogeneity of premature ovarian failure, see POF1 (311360). (615724)
MalaCards based summary : Premature Ovarian Failure 9, is also known as pof9. An important gene associated with Premature Ovarian Failure 9 is HFM1 (HFM1, ATP Dependent DNA Helicase Homolog). Affiliated tissues include ovary, and related phenotypes are amenorrhea and increased circulating gonadotropin level UniProtKB/Swiss-Prot : 75 Premature ovarian failure 9: 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615724Human phenotypes related to Premature Ovarian Failure 9:32
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Interventional clinical trials:
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MalaCards organs/tissues related to Premature Ovarian Failure 9:41
Ovary
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Genes related to Premature Ovarian Failure 9 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 9:75
ClinVar genetic disease variations for Premature Ovarian Failure 9:6
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Search
GEO
for disease gene expression data for Premature Ovarian Failure 9.
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