MCID: FMR009
MIFTS: 22

Fmr1-Related Primary Ovarian Insufficiency

Categories: Rare diseases, Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Fmr1-Related Primary Ovarian Insufficiency

MalaCards integrated aliases for Fmr1-Related Primary Ovarian Insufficiency:

Name: Fmr1-Related Primary Ovarian Insufficiency 53 25
Fragile X-Associated Primary Ovarian Insufficiency 53 25
Premature Ovarian Failure 1 53 25
Primary Ovarian Insufficiency, Fragile X-Associated 73
Idiopathic Familial Premature Ovarian Failure 53
Hypergonadotropic Ovarian Failure, X-Linked 73
X-Linked Hypergonadotropic Ovarian Failure 25
Fmr1-Related Premature Ovarian Failure 53
Premature Ovarian Failure, Familial 73
Familial Premature Ovarian Failure 53
Fxpoi 25

Classifications:



External Ids:

Summaries for Fmr1-Related Primary Ovarian Insufficiency

Genetics Home Reference : 25 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 fragile x-associated tremor/ataxia syndrome and tremor. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include ovary and bone.

Wikipedia : 76 Fragile X syndrome (FXS) is a genetic disorder. Symptoms often include mild to moderate intellectual... more...

Related Diseases for Fmr1-Related Primary Ovarian Insufficiency

Diseases in the Ovarian Disease family:

Ovarian Insufficiency, Familial Fmr1-Related Primary Ovarian Insufficiency
Ovarian Insufficiency Due to Fsh Resistance

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 fragile x-associated tremor/ataxia syndrome 10.2
2 tremor 10.2
3 premature ovarian failure 1 10.1
4 fragile x syndrome 9.8

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 Completed 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:

41
Ovary, Bone

Publications for Fmr1-Related Primary Ovarian Insufficiency

Articles related to Fmr1-Related Primary Ovarian Insufficiency:

(show all 11)
# Title Authors Year
1
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
2
Deregulation of key signaling pathways involved in oocyte maturation in FMR1 premutation carriers with Fragile X-associated primary ovarian insufficiency. ( 26095811 )
2015
3
Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study. ( 25147555 )
2014
4
Understanding decreased fertility in women carriers of the FMR1 premutation: a possible mechanism for Fragile X-Associated Primary Ovarian Insufficiency (FXPOI). ( 25134882 )
2014
5
Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI). ( 25147583 )
2014
6
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
7
Ovarian histopathological and ubiquitin-immunophenotypic features in fragile X-associated primary ovarian insufficiency: a study of five cases and selected controls. ( 22007616 )
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
Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function. ( 21646280 )
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

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

Sources for Fmr1-Related Primary Ovarian Insufficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....