Premature Ovarian Failure 1; Pof1
Description
Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, {233300}) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998).
Clinical Features
Top most frequent phenotypes and symptoms related to Premature Ovarian Failure 1; Pof1
- Intellectual disability
- High palate
- Abnormality of metabolism/homeostasis
- Sparse hair
- Autoimmunity
- Webbed neck
- Amenorrhea
- Premature ovarian insufficiency
- Secondary amenorrhea
- Fatigable weakness
And another 5 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Premature Ovarian Failure 1; Pof1 Is also known as ovarian failure, premature, pof, primary ovarian insufficiency, fragile x-associated, pofx, hypergonadotropic ovarian failure, x-linked, premature ovarian failure, x-linked, fragile x premature ovarian failure.
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.Premature Ovarian Failure 1; Pof1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
FRX.
By Molecular Diagnostic Laboratory University of Alberta (Canada).
FMR1
Specificity
100 %
Genes
100 % |
FMR1 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
FMR1
Specificity
100 %
Genes
100 % |
FMR1 Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
FMR1
Specificity
100 %
Genes
100 % |
FMR1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
FMR1
Specificity
100 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Basic Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
SMN1, CFTR, DMD, FMR1, HBA1, HBA2, HBB
Specificity
15 %
Genes
100 % |
GeneAware Ashkenazi Jewish Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SLC35A3, SMN1, SMPD1, CLRN1, MCOLN1, PCDH15, RTEL1, CFTR, SUMF1, DHDDS, ADAMTS2, COL4A3, CPT2, TMEM216, DHCR7, DLD, DMD, FAH, FANCC , (...)
View the complete list with 19 more genes
Specificity
3 %
Genes
100 % |
GeneAware ACMG/ACOG Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
BLM, SMN1, SMPD1, MCOLN1, CFTR, DMD, FANCC, FMR1, GBA, HBA1, HBA2, HBB, HEXA, ELP1, ASPA
Specificity
7 %
Genes
100 % |
You can get up to 168 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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