MCID: FMR009
MIFTS: 18

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 50 24 25
Fragile X-Associated Primary Ovarian Insufficiency 50 25
Fmr1-Related Premature Ovarian Failure 50 24
Premature Ovarian Failure 1 50 25
Primary Ovarian Insufficiency, Fragile X-Associated 69
Idiopathic Familial Premature Ovarian Failure 50
Hypergonadotropic Ovarian Failure, X-Linked 69
X-Linked Hypergonadotropic Ovarian Failure 25
Premature Ovarian Failure, Familial 69
Familial Premature Ovarian Failure 50
Fmr1-Related Poi 24
Fxpoi 25

Classifications:



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 premature ovarian failure 1 and fragile x-associated tremor/ataxia syndrome. 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 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:

id Related Disease Score Top Affiliating Genes
1 premature ovarian failure 1 12.4
2 fragile x-associated tremor/ataxia syndrome 10.1
3 ataxia 10.1
4 tremor 10.1
5 fragile x syndrome 9.7
6 adrenoleukodystrophy 9.5 FMR1 MCM9
7 focal palmoplantar and gingival keratoderma 9.2 FMR1 MCM9

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):


id 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:


id 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

Genetic tests related to Fmr1-Related Primary Ovarian Insufficiency:

id Genetic test Affiliating Genes
1 Fmr1-Related Primary Ovarian Insufficiency 24

Anatomical Context for Fmr1-Related Primary Ovarian Insufficiency

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

39
Ovary, Bone

Publications for Fmr1-Related Primary Ovarian Insufficiency

Variations for Fmr1-Related Primary Ovarian Insufficiency

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

6
id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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