Premature Ovarian Failure 9; Pof9

Description

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 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Premature Ovarian Failure 9; Pof9

  • Amenorrhea
  • Premature ovarian insufficiency
  • Increased circulating gonadotropin level

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Premature Ovarian Failure 9; Pof9 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Premature Ovarian Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
10 %
Genes
100 %
Premature Ovarian Failure Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

BMP15, FOXL2, MCM8, PSMC3IP, HFM1, NOBOX, FIGLA, FSHR, LMNA, NR5A1
Specificity
10 %
Genes
100 %
Premature Ovarian Failure via HFM1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

HFM1
Specificity
100 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, FOXL2, STAG3, MCM8, PSMC3IP, HFM1, CLPP, MCM9, NOBOX, FIGLA, CYP17A1, CYP19A1, SOHLH1, EIF2B2, EIF2B4, EIF2B5, AIRE, FSHR, GALT, LMNA , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
HFM1.

By Fulgent Genetics Fulgent Genetics (United States).

HFM1
Specificity
100 %
Genes
100 %
Premature Ovarian Failure: Sequencing Panel and FMR1 CGG Repeat Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

BMP15, FOXL2, POF1B, PSMC3IP, HFM1, NOBOX, FIGLA, CYP17A1, CYP19A1, DIAPH2, EIF2B2, EIF2B3, EIF2B5, FMR1, FSHR, GALT, GDF9, LHCGR, LMNA, NR5A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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