MCID: PRM019
MIFTS: 64

Premature Ovarian Failure malady

Summaries for Premature Ovarian Failure

Sources:
34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
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MedlinePlus:34 Premature ovarian failure (pof) is when a woman's ovaries stop working before she is 40. pof is different from premature menopause. with premature menopause, your periods stop before age 40. you can no longer get pregnant. the cause can be natural or it can be a disease, surgery, chemotherapy, or radiation. with pof, some women still have occasional periods. they may even get pregnant. in most cases of pof, the cause is unknown. missed periods are usually the first sign of pof. later symptoms may be similar to those of natural menopause: hot flashes night sweats irritability poor concentration decreased sex drive pain during sex vaginal dryness doctors diagnose pof by doing a physical exam and lab and imaging tests. most women with pof cannot get pregnant naturally. fertility treatments help a few women; others use donor eggs to have children. there is no treatment that will restore normal ovarian function. however, many health care providers suggest taking hormones until age 50. nih: national institute of child health and human development

MalaCards: Premature Ovarian Failure, also known as ovarian failure, premature, is related to polycystic ovary syndrome and turner syndrome. An important gene associated with Premature Ovarian Failure is DIAPH2 (diaphanous-related formin 2), and among its related pathways is Ovarian Infertility Genes. The drugs estradiol and estrogens, conjugated (usp) have been mentioned in the context of this disorder. Affiliated tissues include ovary, bone marrow and thyroid, and related mouse phenotypes are normal and endocrine/exocrine gland.

Wikipedia:64 Premature Ovarian Failure (POF), also known as premature ovarian insufficiency, primary ovarian... more...

Description from OMIM:47 612964, 612310, 611548, 311360, 608996 300510, 300511 more

Aliases & Classifications for Premature Ovarian Failure

Sources:
8Disease Ontology, 9diseasecard, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 34MedlinePlus, 31LifeMap Discovery™, 61UMLS, 40NCIt, 35MeSH, 57SNOMED-CT
See all sources

Aliases & Descriptions:

premature ovarian failure 8 9 22 47 10 34 31
ovarian failure, premature 61
ovarian failure premature 45


External Ids:

Disease Ontology8 DOID:5426
NCIt40 C62595
SNOMED-CT57 237788002
MeSH35 D016649

Related Diseases for Premature Ovarian Failure

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Premature Ovarian Failure family:

premature ovarian failure, familial premature ovarian failure 7
premature ovarian failure 5 premature ovarian failure 6
premature ovarian failure 2a premature ovarian failure 2b
premature ovarian failure 3 premature ovarian failure 4

Diseases related to Premature Ovarian Failure via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1polycystic ovary syndrome30.8INHA, GDF9, NR5A1, BMP15
2turner syndrome30.7SHOX, BMP15
3infertility30.6FOXL2, BMP15, NR5A1, FIGLA, GDF9, INHA
4amenorrhea30.4BMP15
5premature ovarian failure, familial10.7
6premature menopause10.6
7osteosclerosis with ichthyosis and premature ovarian failure10.6
8premature ovarian failure 610.5
9premature ovarian failure 510.5
10premature ovarian failure 710.5
11premature ovarian failure 2b10.5
12ovarian lymphoma10.4
13n syndrome10.4
14fragile x-associated primary ovarian insufficiency10.4
15premature ovarian failure 310.4
16premature ovarian failure 410.4
17thyroiditis10.4
18blepharophimosis, ptosis, and epicanthus inversus syndrome type 210.4
19premature ovarian failure 2a10.4
20systemic lupus erythematosus10.3
21blepharophimosis10.3
22proximal symphalangism10.3
23osteoporosis10.3
24autoimmune oophoritis10.3
25blepharophimosis, ptosis, and epicanthus inversus syndrome type 110.3
26mental retardation10.3
27oophoritis10.3
28autoimmune lymphoproliferative syndrome10.1
29hajdu-cheney syndrome10.1
30autoimmune thyroiditis10.1
31hyperprolactinemia10.1
32hypoparathyroidism10.1
33gitelman syndrome10.1
34empty sella syndrome10.1
35diabetes insipidus10.1
36poland syndrome10.1
37beckwith-wiedemann syndrome10.1
38protein-losing enteropathy10.1
39clear cell adenofibroma10.1
40whipple disease10.1
41ulcerative colitis10.1
42triple-a syndrome10.1
43adult syndrome10.1
44graves' disease10.1
45addison's disease10.1
46propionic acidemia10.1
47adenofibroma10.1
48arthritis10.1
49thalassemia10.1
50thyroid cancer10.1

Graphical network of the top 20 diseases related to Premature Ovarian Failure:



Diseases related to premature ovarian failure

Clinical Features for Premature Ovarian Failure

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612964,612310,611548,311360,608996,300510,300511

Drugs & Therapeutics for Premature Ovarian Failure

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Premature Ovarian Failure

Drug clinical trials:

Search ClinicalTrials for Premature Ovarian Failure

Search NIH Clinical Center for Premature Ovarian Failure

Search CenterWatch for Premature Ovarian Failure

Inferred drug relations via UMLS61/NDF-RT41:

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Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Premature Ovarian Failure cell therapies at LifeMap Discovery.

Genetic Tests for Premature Ovarian Failure

Sources:
22GTR
See all sources

Genetic tests related to Premature Ovarian Failure:

id Genetic test Affiliating Genes
1 Premature Ovarian Failure22

Anatomical Context for Premature Ovarian Failure

Sources:
31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Premature Ovarian Failure:

33
Ovary, Bone marrow, Thyroid, Breast, Monocytes, T cells, B cells, Endothelial, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Premature Ovarian Failure:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate
3 OvaryOvigerous CordOvum Potential therapeutic candidate, affected by disease
4 OvaryPrimordial FolliclePrimary Oocyte Potential therapeutic candidate, affected by disease
5 OvaryPrimary FolliclePrimary Oocyte Potential therapeutic candidate, affected by disease
6 OvaryAntral FollicleSecondary Oocyte Potential therapeutic candidate, affected by disease
7 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Premature Ovarian Failure or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Premature Ovarian Failure:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000287310.5FOXO4, DIAPH2, NR5A1, POF1B, INHA, DACH2
2MP:000537910.5MSH5, FMR1, FOXL2, FOXE1, BMP15, NR5A1
3MP:000538910.3FMR1, FOXL2, BMP15, NR5A1, FIGLA, GDF9

Publications for Premature Ovarian Failure

Sources:
51PubMed
See all sources

Articles related to Premature Ovarian Failure:

(show top 50)    (show all 519)
idTitleAuthorsYear
1
Is there a link between premature ovarian failure and serum concentrations of vitamin D, zinc, and copper? (22968257)
2013
2
Idiopathic premature ovarian failure: what is the most suitable ovarian stimulation protocol? (24283158)
2013
3
The association of premature ovarian failure with ventricular repolarization dynamics evaluated by QT dynamicity. (23592757)
2013
4
Disruption of HDX gene in premature ovarian failure. (23441923)
2013
5
Mutational analysis of SKP2 and P27 in Chinese Han women with premature ovarian failure. (23665265)
2013
6
Investigating the role of X chromosome breakpoints in premature ovarian failure. (22794123)
2012
7
Premature ovarian failure risk factors in an Iranian population. (22573941)
2012
8
Low-level X chromosome mosaicism in women with sporadic premature ovarian failure. (21334258)
2011
9
The POF1B candidate gene for premature ovarian failure regulates epithelial polarity. (21940798)
2011
10
Identification of novel missense mutations of the TGFBR3 gene in Chinese women with premature ovarian failure. (22036907)
2011
11
Pregnancy after azathioprine therapy for ulcerative colitis in a woman with autoimmune premature ovarian failure and Addison's disease: HLA haplotype characterization. (21367409)
2011
12
De novo duplication of Xq22.1a89q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure. (22030050)
2011
13
An immunological insight into premature ovarian failure (POF). (20601203)
2010
14
Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure. (19438907)
2010
15
Genome-wide association study and premature ovarian failure. (20362963)
2010
16
Similar phenotype characteristics comparing familial and sporadic premature ovarian failure. (20395876)
2010
17
Dr. Chen Ying-Yi's experience in treating premature ovarian failure. (21053630)
2010
18
GPR3 may not be a potential candidate gene for premature ovarian failure. (20158988)
2010
19
Longer CAG repeat length in the androgen receptor gene is associated with premature ovarian failure. (19684044)
2009
20
Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern. (19373114)
2009
21
Mutational analysis of the PTEN gene in women with premature ovarian failure. (19449221)
2009
22
Ovarian sickling as a proposed mechanism for premature ovarian failure necessitating ovum donation. (19465672)
2009
23
Primary ovarian insufficiency: a more accurate term for premature ovarian failure. (17970776)
2008
24
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. (17826728)
2008
25
Sexual health consequences of premature ovarian failure. (17917614)
2008
26
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. (18782852)
2008
27
Successive pregnancies in a woman with diabetes insipidus and premature ovarian failure. (17289251)
2008
28
Premature ovarian failure: a review. (17364600)
2007
29
Detection of antizona pellucida antibodies in the sera from premature ovarian failure patients by a highly specific test. (17349637)
2007
30
Androgen receptor function in folliculogenesis and its clinical implication in premature ovarian failure. (17442585)
2007
31
Successful pregnancy with spontaneous ovulation in a woman with apparent premature ovarian failure who failed to conceive despite four transfers of embryos derived from donated oocytes. (16761530)
2006
32
Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome. (16708166)
2006
33
Naturally occurring anti-albumin antibodies are responsible for false positivity in diagnosis of autoimmune premature ovarian failure. (16286665)
2006
34
Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. (16773570)
2006
35
A pilot study of an investigational testosterone transdermal patch system in young women with spontaneous premature ovarian failure. (16174721)
2005
36
Poland's syndrome and premature ovarian failure. (15603981)
2004
37
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. (15459172)
2004
38
First reported convergence of premature ovarian failure and cutis marmorata telangiectatica congenita. (12477531)
2002
39
A genetic explanation for premature ovarian failure? (11211007)
2001
40
47,XXX in an adolescent with premature ovarian failure and autoimmune disease. (11479104)
2001
41
Identification of premature ovarian failure patients with underlying autoimmunity. (10787223)
2000
42
X chromosome genes and premature ovarian failure. (11299520)
2000
43
Ovarian stimulation in a woman with premature ovarian failure and X-autosome translocation. A case report. (10756504)
2000
44
X-chromosome abnormalities in women with premature ovarian failure. (10319299)
1999
45
Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women. (10325264)
1999
46
Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome. (10468971)
1999
47
Genetic basis of premature ovarian failure. (11844303)
1998
48
Prevalence, specificity and significance of ovarian antibodies during spontaneous premature ovarian failure. (9455825)
1997
49
Dysfunction of monocytes and dendritic cells in patients with premature ovarian failure. (8129847)
1993
50
Development of a radioligand receptor assay for measuring follitropin in serum: application to premature ovarian failure. (1901773)
1991

Genetic Variations for Premature Ovarian Failure

Expression for genes affiliated with Premature Ovarian Failure

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Premature Ovarian Failure

Search GEO for disease gene expression data for Premature Ovarian Failure.

Pathways for genes affiliated with Premature Ovarian Failure

Sources:
38NCBI BioSystems Database
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Pathways related to Premature Ovarian Failure according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5MSH5, INHA, GDF9, NR5A1

Compounds for genes affiliated with Premature Ovarian Failure

GO Terms for genes affiliated with Premature Ovarian Failure

Sources:
16Gene Ontology
See all sources

Biological processes related to Premature Ovarian Failure according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ovarian follicle developmentGO:00154110.6NOBOX, INHA, BMP15, FOXL2
2female gamete generationGO:00729210.6GDF9, DIAPH2, BMP15
3cell differentiationGO:03015410.5FOXL2, DIAPH2, NR5A1, INHA, NOBOX
4tissue developmentGO:00988810.5NR5A1, FOXO4
5pattern specification processGO:00738910.4FOXO4, FOXE1, FOXL2
6oogenesisGO:04847710.2NOBOX, DIAPH2

Molecular functions related to Premature Ovarian Failure according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:04356510.7NOBOX, FOXL2, FOXE1, FOXO4, NR5A1, FIGLA
2DNA binding, bendingGO:00830110.6FOXO4, FOXE1, FOXL2
3transcription factor bindingGO:00813410.6FOXL2, FOXE1, FOXO4, FIGLA
4RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.5NR5A1, FOXE1, FOXL2
5cytokine activityGO:00512510.5INHA, GDF9, BMP15
6double-stranded DNA bindingGO:00369010.4FOXL2, FOXE1, NR5A1
7growth factor activityGO:00808310.2INHA, GDF9, BMP15

Products for genes affiliated with Premature Ovarian Failure

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Sources for Premature Ovarian Failure

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet