MCID: PRM019
MIFTS: 66

Premature Ovarian Failure malady

Genetic diseases, Reproductive diseases, Rare diseases categories
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Summaries for Premature Ovarian Failure

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MedlinePlus:33 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 based summary: Premature Ovarian Failure, also known as ovarian failure, premature, is related to amenorrhea and polycystic ovary syndrome, and has symptoms including An important gene associated with Premature Ovarian Failure is DIAPH2 (diaphanous-related formin 2), and among its related pathways are Ovarian steroidogenesis and Ovarian Infertility Genes. The drugs estradiol and estrogens, conjugated (usp) have been mentioned in the context of this disorder. Affiliated tissues include ovary, testes and bone, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Wikipedia:65 Premature Ovarian Failure (POF), also known as premature ovarian insufficiency (POI), primary ovarian... more...

Descriptions from OMIM:46 311360, 611548, 608996, 300510, 612964 300511, 612310 more

Aliases & Classifications for Premature Ovarian Failure

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Premature Ovarian Failure, Aliases & Descriptions:

Name: Premature Ovarian Failure 30 8 9 22 46 10 33
Ovarian Failure, Premature 62
 
Ovarian Failure Premature 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Reproductive diseases


External Ids:

Disease Ontology8 DOID:5426
SNOMED-CT57 237788002
MeSH34 D016649
NCIt39 C62595

Related Diseases for Premature Ovarian Failure

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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 9 Premature Ovarian Failure 3
Premature Ovarian Failure 8 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 77)
idRelated DiseaseScoreTop Affiliating Genes
1amenorrhea30.8BMP15
2polycystic ovary syndrome30.4BMP15, NR5A1, GDF9
3ovarian disease30.2GDF9, FMR1, FOXL2
4infertility29.7FIGLA, FOXL2, BMP15, NR5A1, GDF9
5osteosclerosis with ichthyosis and premature ovarian failure10.6
6turner syndrome10.6
7thyroiditis10.5
8premature ovarian failure, familial10.5
9fragile x syndrome10.5
10premature ovarian failure 710.5
11premature ovarian failure 510.5
12premature ovarian failure 610.5
13premature ovarian failure 2b10.5
14fragile x-associated primary ovarian insufficiency10.5
15addison's disease10.4
16premature ovarian failure 2a10.4
17premature ovarian failure 310.4
18premature ovarian failure 810.4
19hodgkin's lymphoma10.4
20galactosemia10.4
21blepharophimosis, ptosis, and epicanthus inversus syndrome type 210.4
22mental retardation10.4
23premature ovarian failure 910.4
24premature ovarian failure 410.4
25endotheliitis10.4
26myasthenia gravis10.3
27osteoporosis10.3
28systemic lupus erythematosus10.3
29proximal symphalangism10.3
30premature menopause10.3
31blepharophimosis10.3
32breast cancer10.3
33gonadal dysgenesis10.3
34hypogonadism10.3
35lupus erythematosus10.3
36vaginitis10.3
37triple x syndrome10.3
38autoimmune oophoritis10.3
39blepharophimosis, ptosis, and epicanthus inversus syndrome type 110.3
40tetrasomy x10.3
41oophoritis10.3
42developmental disabilities10.2FOXL2, FMR1
43arthritis10.1
44beckwith-wiedemann syndrome10.1
45hematopoietic stem cell transplantation10.1
46thalassemia10.1
47ulcerative colitis10.1
48autoimmune thyroiditis10.1
49hajdu-cheney syndrome10.1
50hypogonadotropism10.1

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



Diseases related to premature ovarian failure

Symptoms for Premature Ovarian Failure

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Clinical features from OMIM:

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

HPO human phenotypes related to Premature Ovarian Failure:

id Description Frequency HPO Source Accession
1 premature ovarian failure obligate (100%) HP:0008209

Drugs & Therapeutics for Premature Ovarian Failure

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Genetic Tests for Premature Ovarian Failure

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Genetic tests related to Premature Ovarian Failure:

id Genetic test Affiliating Genes
1 Premature Ovarian Failure22

Anatomical Context for Premature Ovarian Failure

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MalaCards organs/tissues related to Premature Ovarian Failure:

32
Ovary, Testes, Bone, Thyroid, Breast, Endothelial, Bone marrow, Pituitary, Eye, Monocytes, T cells

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

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MGI Mouse Phenotypes related to Premature Ovarian Failure:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053896.6GDF9, FIGLA, MSH5, FOXL2, BMP15, FMR1
2MP:00053796.3GDF9, FIGLA, MSH5, FOXL2, BMP15, FMR1

Publications for Premature Ovarian Failure

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Articles related to Premature Ovarian Failure:

(show top 50)    (show all 532)
idTitleAuthorsYear
1
FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X. (25366135)
2014
2
Mutational analysis of the FIGLA gene in women with idiopathic premature ovarian failure. (25314148)
2014
3
Role of the Different Sexuality Domains on the Sexual Function of Women with Premature Ovarian Failure. (25377950)
2014
4
Mutant cohesin in premature ovarian failure. (24597867)
2014
5
Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure. (25051287)
2014
6
Analysis of progesterone receptor membrane component 1 mutation in Han Chinese women with premature ovarian failure. (25246111)
2014
7
Cervicoisthmic pregnancy near cesarean scar after oocyte donation in premature ovarian failure: literature review starting from a single case. (23959295)
2014
8
Human amniotic epithelial cells can differentiate into granulosa cells and restore folliculogenesis in a mouse model of chemotherapy-induced premature ovarian failure. (24406076)
2013
9
Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure. (24366283)
2013
10
Is there a link between premature ovarian failure and serum concentrations of vitamin D, zinc, and copper? (22968257)
2013
11
Idiopathic premature ovarian failure: what is the most suitable ovarian stimulation protocol? (24283158)
2013
12
Collagen type I alpha 1 gene polymorphism in premature ovarian failure. (23858805)
2013
13
Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure. (21756058)
2012
14
Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF). (21989058)
2012
15
Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure. (21269619)
2011
16
FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure. (22177572)
2011
17
Prevention of premature ovarian failure and osteoporosis induced by irradiation using allogeneic ovarian/bone marrow transplantation. (20177340)
2010
18
An immunological insight into premature ovarian failure (POF). (20601203)
2010
19
Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure. (20219431)
2010
20
Toward gene therapy of premature ovarian failure: intraovarian injection of adenovirus expressing human FSH receptor restores folliculogenesis in FSHR(-/-) FORKO mice. (20086006)
2010
21
Premature ovarian failure and FMR1 gene mutations: an update. (20398889)
2010
22
Longer CAG repeat length in the androgen receptor gene is associated with premature ovarian failure. (19684044)
2009
23
Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure. (19411303)
2009
24
Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns. (18281036)
2009
25
Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure. (18582870)
2009
26
Premature ovarian failure: a growing concern. (18202959)
2008
27
Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure. (17981816)
2008
28
Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. (17959613)
2008
29
Decreased androgen concentrations and diminished general and sexual well-being in women with premature ovarian failure. (18257141)
2008
30
The correlation between phalangeal quantitative ultrasonography and dual energy x-ray absorptiometry in women with premature ovarian failure. (19148311)
2008
31
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. (17265046)
2007
32
Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure. (17027369)
2006
33
Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. (16361284)
2006
34
Alpha-enolase: a novel autoantigen in patients with premature ovarian failure. (17121525)
2006
35
Quantification of mitochondrial DNA using real-time polymerase chain reaction in patients with premature ovarian failure. (16359970)
2005
36
Premature ovarian failure in the early age 20s: 3 case reports. (16523651)
2005
37
Ovarian steroidogenesis and serum androgen levels in patients with premature ovarian failure. (15671097)
2005
38
Serum inhibin A, inhibin B, pro-alphaC, and activin A levels in women with idiopathic premature ovarian failure. (15374731)
2004
39
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. (15280899)
2004
40
Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders. (14556833)
2003
41
Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure. (12548733)
2003
42
Pregnancy in premature ovarian failure after therapy using Chinese herbal medicine. (12956293)
2003
43
Premature ovarian failure in women with juvenile idiopathic arthritis (JIA). (12846055)
2003
44
Meeting the needs of young women with secondary amenorrhea and spontaneous premature ovarian failure. (11978278)
2002
45
The lived experience of premature ovarian failure. (11308110)
2001
46
Identification of premature ovarian failure patients with underlying autoimmunity. (10787223)
2000
47
X-chromosome abnormalities in women with premature ovarian failure. (10319299)
1999
48
Twinning and premature ovarian failure in premutation fragile X carriers. (10208171)
1999
49
Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data. (10331612)
1999
50
Increased peripheral T lymphocyte activation in patients with karyotypically normal spontaneous premature ovarian failure. (2037104)
1991

Variations for Premature Ovarian Failure

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Clinvar genetic disease variations for Premature Ovarian Failure:

6
id Gene Name Type Significance SNP ID Assembly Location
1DIAPH2DIAPH2, INTRONIC BREAKPOINTundetermined variantPathogenic

Expression for genes affiliated with Premature Ovarian Failure

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Expression patterns in normal tissues for genes affiliated with Premature Ovarian Failure

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Pathways for genes affiliated with Premature Ovarian Failure

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Pathways related to Premature Ovarian Failure according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3BMP15, GDF9
28.7NR5A1, MSH5, GDF9

Compounds for genes affiliated with Premature Ovarian Failure

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GO Terms for genes affiliated with Premature Ovarian Failure

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

idNameGO IDScoreTop Affiliating Genes
1oogenesisGO:0484779.8NOBOX, DIAPH2
2female gamete generationGO:0072929.0BMP15, DIAPH2, GDF9
3ovarian follicle developmentGO:0015419.0NOBOX, BMP15, FOXL2
4cell differentiationGO:0301548.4DIAPH2, FOXL2, NR5A1, NOBOX

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.3NR5A1, FOXL2
2sequence-specific DNA bindingGO:0435658.2NOBOX, NR5A1, FOXL2, FIGLA

Products for genes affiliated with Premature Ovarian Failure

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Sources for Premature Ovarian Failure

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet