MCID: FMR009
MIFTS: 24

Fmr1-Related Primary Ovarian Insufficiency

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Fmr1-Related Primary Ovarian Insufficiency

MalaCards integrated aliases for Fmr1-Related Primary Ovarian Insufficiency:

Name: Fmr1-Related Primary Ovarian Insufficiency 49 24
Fragile X-Associated Primary Ovarian Insufficiency 49 24
Premature Ovarian Failure 1 49 24
Primary Ovarian Insufficiency, Fragile X-Associated 69
Idiopathic Familial Premature Ovarian Failure 49
Hypergonadotropic Ovarian Failure, X-Linked 69
X-Linked Hypergonadotropic Ovarian Failure 24
Fmr1-Related Premature Ovarian Failure 49
Premature Ovarian Failure, Familial 69
Familial Premature Ovarian Failure 49
Fxpoi 24

Classifications:



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Summaries for Fmr1-Related Primary Ovarian Insufficiency

Genetics Home Reference : 24 Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems.

MalaCards based summary : Fmr1-Related Primary Ovarian Insufficiency, also known as fragile x-associated primary ovarian insufficiency, is related to premature ovarian failure 1 and ataxia and polyneuropathy, adult-onset. An important gene associated with Fmr1-Related Primary Ovarian Insufficiency is MCM9 (Minichromosome Maintenance 9 Homologous Recombination Repair Factor). The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include ovary and bone.

Related Diseases for Fmr1-Related Primary Ovarian Insufficiency

Diseases related to Fmr1-Related Primary Ovarian Insufficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 premature ovarian failure 1 32.8 FMR1 MCM9
2 ataxia and polyneuropathy, adult-onset 10.2
3 fragile x-associated tremor/ataxia syndrome 10.2
4 tremor 10.2
5 fragile x syndrome 10.0
6 infertility 10.0

Graphical network of the top 20 diseases related to Fmr1-Related Primary Ovarian Insufficiency:



Diseases related to Fmr1-Related Primary Ovarian Insufficiency

Symptoms & Phenotypes for Fmr1-Related Primary Ovarian Insufficiency

Drugs & Therapeutics for Fmr1-Related Primary Ovarian Insufficiency

Drugs for Fmr1-Related Primary Ovarian Insufficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 1, Phase 2
2 Hormones Phase 1, Phase 2
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
2 Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) Active, not recruiting NCT03069209 Phase 1, Phase 2
3 Inovium Ovarian Rejuvenation Trials Recruiting NCT03178695 Phase 1
4 Genetic Analysis of Familial Cases of Premature Ovarian Failure Completed NCT01177891

Search NIH Clinical Center for Fmr1-Related Primary Ovarian Insufficiency

Genetic Tests for Fmr1-Related Primary Ovarian Insufficiency

Anatomical Context for Fmr1-Related Primary Ovarian Insufficiency

MalaCards organs/tissues related to Fmr1-Related Primary Ovarian Insufficiency:

38
Ovary, Bone

Publications for Fmr1-Related Primary Ovarian Insufficiency

Articles related to Fmr1-Related Primary Ovarian Insufficiency:

(show all 11)
# Title Authors Year
1
Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. ( 26095811 )
2015
2
Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency. ( 26537920 )
2015
3
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI). ( 25147583 )
2014
4
Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study. ( 25147555 )
2014
5
Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI). ( 25134882 )
2014
6
Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function. ( 21646280 )
2011
7
Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency. ( 21540884 )
2011
8
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. ( 21116185 )
2011
9
Ovarian histopathological and ubiquitin-immunophenotypic features in fragile X-associated primary ovarian insufficiency: a study of five cases and selected controls. ( 22007616 )
2011
10
Reproductive health of adolescent girls who carry the FMR1 premutation: expected phenotype based on current knowledge of fragile x-associated primary ovarian insufficiency. ( 18574214 )
2008
11
Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity. ( 18357616 )
2008

Variations for Fmr1-Related Primary Ovarian Insufficiency

ClinVar genetic disease variations for Fmr1-Related Primary Ovarian Insufficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FMR1 FMR1, (CGG)n EXPANSION NT expansion Pathogenic
2 MCM9 NM_017696.2(MCM9): c.1732+2T> C single nucleotide variant Pathogenic rs587777871 GRCh38 Chromosome 6, 118827925: 118827925
3 MCM9 NM_017696.2(MCM9): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs587777872 GRCh38 Chromosome 6, 118924038: 118924038

Expression for Fmr1-Related Primary Ovarian Insufficiency

Search GEO for disease gene expression data for Fmr1-Related Primary Ovarian Insufficiency.

Pathways for Fmr1-Related Primary Ovarian Insufficiency

GO Terms for Fmr1-Related Primary Ovarian Insufficiency

Biological processes related to Fmr1-Related Primary Ovarian Insufficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 8.62 FMR1 MCM9

Sources for Fmr1-Related Primary Ovarian Insufficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
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42 MESH via Orphanet
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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