MCID: PRM019
MIFTS: 63

Premature Ovarian Failure malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Premature Ovarian Failure

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Premature Ovarian Failure, Aliases & Descriptions:

Name: Premature Ovarian Failure 45 30 9 10 11 32
Premature Ovarian Failure 2a 20 22 60
Hypergonadotropic Hypogonadism 9 43
Ovarian Failure Premature 43 22
Premature Menopause 9 60
Hypergonadotropic Ovarian Failure, X-Linked 60
 
Premature Ovarian Insufficiency 9
Primary Ovarian Insufficiency 9
Ovarian Failure, Premature 60
Primary Hypogonadism 60
Turner Syndrome 60


Classifications:

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


External Ids:

OMIM45 300511
Disease Ontology9 DOID:5426
NCIt38 C62595
SNOMED-CT55 237788002
MeSH33 D016649
ICD9CM27 256.31

Summaries for Premature Ovarian Failure

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MedlinePlus:32 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 premature ovarian failure 2a, is related to amenorrhea and blepharophimosis, and has symptoms including premature ovarian failure 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 chlorotrianisene and estradiol 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.

Disease Ontology:9 An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.

Wikipedia:63 Premature Ovarian Failure (POF), also known as premature ovarian insufficiency (POI), primary ovarian... more...

Description from OMIM:45 300511

Related Diseases for Premature Ovarian Failure

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Diseases in the Premature Ovarian Failure family:

Premature Ovarian Failure 9 Premature Ovarian Failure 6
Premature Ovarian Failure 3 Premature Ovarian Failure 8
Premature Ovarian Failure 5 Premature Ovarian Failure 7
Premature Ovarian Failure 2b Premature Ovarian Failure 1
Premature Ovarian Failure, Familial

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

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1amenorrhea30.8BMP15
2blepharophimosis30.6GDF9, FOXL2
3polycystic ovary syndrome30.3BMP15, NR5A1, GDF9
4ovarian disease30.2GDF9, FMR1, FOXL2
5infertility29.7FIGLA, FOXL2, BMP15, NR5A1, GDF9
6malouf syndrome10.7
7osteosclerosis with ichthyosis and premature ovarian failure10.6
8premature ovarian failure 610.6
9premature ovarian failure 310.6
10premature ovarian failure 510.6
11premature ovarian failure 710.6
12premature ovarian failure 2b10.6
13premature ovarian failure 110.6
14polyneuropathy mental retardation acromicria premature menopause10.6
15turner syndrome10.6
16microcephaly hypergonadotropic hypogonadism short stature10.5
17thyroiditis10.5
18premature ovarian failure, familial10.5
19premature ovarian failure 810.5
20blepharophimosis, epicanthus inversus, and ptosis, type 110.5
21fragile x syndrome10.5
22ataxia10.5
23premature ovarian failure 910.4
24galactosemia10.4
25addison's disease10.4
26aromatase deficiency10.4
27leydig cell hypoplasia with pseudohermaphroditism10.4
28alopecia - intellectual disability - hypergonadotropic hypogonadism10.4
29primary hypergonadotropic hypogonadism - partial alopecia10.4
30male hypergonadotropic hypogonadism - intellectual disability - skeletal anomalies10.4
31moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism10.4
32chromosome xq27.3-q28 duplication syndrome10.4
33vaginitis10.4
34mental retardation10.4
35endotheliitis10.4
36fmr1-related primary ovarian insufficiency10.4
37marinesco-sjogren syndrome10.3
38cerebellar ataxia10.3
39spinocerebellar ataxia10.3
40leydig cells hypoplasia10.3
41lubinsky syndrome10.3
42systemic lupus erythematosus10.3
43breast cancer10.3
44perrault syndrome 410.3
45osteoporosis10.3
46leukoencephalopathy, progressive, with ovarian failure10.3
47ovarian dysgenesis 210.3
48myasthenia gravis10.3
49gonadal dysgenesis10.3
50hypogonadism10.3

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:

300511

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 Failure 2a20 22 DIAPH2
2 Premature Ovarian Failure22

Anatomical Context for Premature Ovarian Failure

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MalaCards organs/tissues related to Premature Ovarian Failure:

31
Ovary, Testes, Bone, Thyroid, Breast, Endothelial, Bone marrow, Pituitary, Eye, Monocytes, T cells

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053896.6FIGLA, MSH5, FOXL2, BMP15, FMR1, NR5A1
2MP:00053796.3NOBOX, GDF9, FIGLA, MSH5, FOXL2, BMP15

Publications for Premature Ovarian Failure

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Articles related to Premature Ovarian Failure:

(show top 50)    (show all 555)
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
Cytogenetic abnormalities in Tunisian women with premature ovarian failure. (25433561)
2014
4
Retraction. Association study of TGFBR2 and miR-518 gene polymorphisms with age at natural menopause, premature ovarian failure and early menopause among Chinese Han women. (25546655)
2014
5
Role of the Different Sexuality Domains on the Sexual Function of Women with Premature Ovarian Failure. (25377950)
2014
6
Mutant cohesin in premature ovarian failure. (24597867)
2014
7
Epistasis between polymorphisms in ACVR2B and ADAMTS19 is associated with premature ovarian failure. (25051287)
2014
8
Analysis of progesterone receptor membrane component 1 mutation in Han Chinese women with premature ovarian failure. (25246111)
2014
9
Cervicoisthmic pregnancy near cesarean scar after oocyte donation in premature ovarian failure: literature review starting from a single case. (23959295)
2014
10
Human amniotic epithelial cells can differentiate into granulosa cells and restore folliculogenesis in a mouse model of chemotherapy-induced premature ovarian failure. (24406076)
2013
11
Epistasis between polymorphisms in TSHB and ADAMTS16 is associated with premature ovarian failure. (24366283)
2013
12
Is there a link between premature ovarian failure and serum concentrations of vitamin D, zinc, and copper? (22968257)
2013
13
Idiopathic premature ovarian failure: what is the most suitable ovarian stimulation protocol? (24283158)
2013
14
Haplotype and mutation analysis of the TGFBR3 gene in Chinese women with idiopathic premature ovarian failure. (21756058)
2012
15
Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF). (21989058)
2012
16
Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure. (21269619)
2011
17
FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failure. (22177572)
2011
18
Prevention of premature ovarian failure and osteoporosis induced by irradiation using allogeneic ovarian/bone marrow transplantation. (20177340)
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
Physiological versus standard sex steroid replacement in young women with premature ovarian failure: effects on bone mass acquisition and turnover. (20738314)
2010
23
Longer CAG repeat length in the androgen receptor gene is associated with premature ovarian failure. (19684044)
2009
24
Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure. (19411303)
2009
25
Premature ovarian failure and androgen receptor gene CAG repeat lengths weighted by X chromosome inactivation patterns. (18281036)
2009
26
Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure. (18582870)
2009
27
Premature ovarian failure: a growing concern. (18202959)
2008
28
Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure. (17981816)
2008
29
Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. (17959613)
2008
30
Decreased androgen concentrations and diminished general and sexual well-being in women with premature ovarian failure. (18257141)
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 Variation Type Significance SNP ID Assembly Location
1DIAPH2DIAPH2, INTRONIC BREAKPOINTundetermined variantPathogenic

Expression for genes affiliated with Premature Ovarian Failure

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

Pathways for genes affiliated with Premature Ovarian Failure

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Pathways related to Premature Ovarian Failure according to GeneCards Suite gene sharing:

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1oogenesisGO:00484779.8NOBOX, DIAPH2
2female gamete generationGO:00072929.0BMP15, DIAPH2, GDF9
3ovarian follicle developmentGO:00015419.0NOBOX, BMP15, FOXL2
4cell differentiationGO:00301548.4DIAPH2, FOXL2, NR5A1, NOBOX

Molecular functions related to Premature Ovarian Failure according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.3NR5A1, FOXL2
2sequence-specific DNA bindingGO:00435658.2NOBOX, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet