POF2A
MCID: PRM019
MIFTS: 64

Premature Ovarian Failure (POF2A) malady

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure

Aliases & Descriptions for Premature Ovarian Failure:

Name: Premature Ovarian Failure 54 38 12 13 41 14
Premature Ovarian Failure 2a 24 66 29 69
Hypergonadotropic Hypogonadism 12 29 52
Primary Ovarian Insufficiency 12 42
Premature Menopause 12 69
Premature Ovarian Insufficiency 12
Hypogonadism, Hypergonadotropic 13
Ovarian Failure, Premature 69
Ovarian Failure Premature 29
Primary Hypogonadism 69
Turner Syndrome 69
Pof2a 66

Classifications:



External Ids:

OMIM 54 300511
Disease Ontology 12 DOID:5426
ICD10 33 E28.3
MeSH 42 D016649
NCIt 47 C113352
MedGen 40 C1845293
UMLS 69 C0085215

Summaries for Premature Ovarian Failure

MedlinePlus : 41 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 premature ovarian failure 3 and premature ovarian failure 1, and has symptoms including pelvic pain An important gene associated with Premature Ovarian Failure is DIAPH2 (Diaphanous Related Formin 2), and among its related pathways/superpathways are Ovarian steroidogenesis and Ovarian Infertility Genes. The drugs Progesterone and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Umbilical Cord, and related phenotypes are endocrine/exocrine gland and reproductive system

UniProtKB/Swiss-Prot : 66 Premature ovarian failure 2A: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.

Disease Ontology : 12 An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.

Wikipedia : 71 Premature ovarian failure (POF) is the loss of function of the ovaries before age 40. A commonly cited... more...

Description from OMIM: 300511

Related Diseases for Premature Ovarian Failure

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 10 Premature Ovarian Failure 2b
Premature Ovarian Failure 1

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

(show top 50) (show all 97)
id Related Disease Score Top Affiliating Genes
1 premature ovarian failure 3 12.5
2 premature ovarian failure 1 12.4
3 premature ovarian failure 9 12.4
4 premature ovarian failure 2b 12.4
5 premature ovarian failure 5 12.4
6 premature ovarian failure 7 12.4
7 premature ovarian failure 6 12.4
8 premature ovarian failure 10 12.4
9 premature ovarian failure 8 12.4
10 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 12.2
11 osteosclerosis with ichthyosis and premature ovarian failure 12.2
12 blepharophimosis, epicanthus inversus, and ptosis, type 1 11.8
13 ovarian dysgenesis 2 11.7
14 fmr1-related primary ovarian insufficiency 11.5
15 turner syndrome 11.4
16 leukoencephalopathy, progressive, with ovarian failure 11.0
17 malouf syndrome 11.0
18 ovarian dysgenesis 1 11.0
19 perrault syndrome 4 10.9
20 chromosome xq27.3-q28 duplication syndrome 10.9
21 ovarian disease 10.9
22 autoimmune lymphoproliferative syndrome 10.9
23 perrault syndrome 3 10.9
24 chronic interstitial cystitis 10.4
25 deep leiomyoma 10.2 FOXL2 NOBOX
26 polycystic ovary syndrome 10.1
27 bardet-biedl syndrome 1 10.1 BMP15 CYP19A1
28 8p23.1 duplication syndrome 10.0 BMP15 FSHR NR5A1
29 combined oxidative phosphorylation deficiency 5 10.0 BMP15 DIAPH2 FOXL2 NR5A1
30 thyroiditis 10.0
31 breast cancer 10.0
32 fragile x syndrome 10.0
33 lymphoma 9.9
34 infertility 9.9
35 systemic lupus erythematosus 9.9
36 addison's disease 9.9
37 lupus erythematosus 9.9
38 leydig cell hypoplasia with pseudohermaphroditism 9.9 CYP19A1 FSHR
39 sex differentiation disease 9.9 CYP19A1 FOXL2 INHA NR5A1
40 46 xx gonadal dysgenesis 9.9 BMP15 FOXL2 FSHR NR5A1
41 epidural spinal canal meningioma 9.9 BMP15 CYP19A1 FSHR
42 vaginitis 9.9
43 endotheliitis 9.9
44 galactosemia 9.9
45 amenorrhea 9.9
46 acute gonococcal salpingitis 9.9 BMP15 FSHR NOBOX NR5A1 POF1B
47 adrenoleukodystrophy 9.8 BMP15 FMR1 FOXL2 FSHR GDF9
48 acute thyroiditis 9.8 CYP19A1 FSHR
49 gonadal dysgenesis 9.8
50 triple x syndrome 9.8

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



Diseases related to Premature Ovarian Failure

Symptoms & Phenotypes for Premature Ovarian Failure

Clinical features from OMIM:

300511

Human phenotypes related to Premature Ovarian Failure:

32
id Description HPO Frequency HPO Source Accession
1 premature ovarian failure 32 HP:0008209

UMLS symptoms related to Premature Ovarian Failure:


pelvic pain

MGI Mouse Phenotypes related to Premature Ovarian Failure:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.8 BMP15 CYP19A1 FIGLA FMR1 FOXL2 FSHR
2 reproductive system MP:0005389 9.5 BMP15 CYP19A1 FIGLA FMR1 FOXL2 FSHR

Drugs & Therapeutics for Premature Ovarian Failure

Drugs for Premature Ovarian Failure (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 213)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 57-83-0 5994
2
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2 50-18-0, 6055-19-2 2907
3
Doxorubicin Approved, Investigational Phase 4,Phase 3 23214-92-8 31703
4
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-28-2 5757 53477783
5
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2 57-63-6 5991
6
Norethindrone Approved Phase 4,Phase 2,Phase 3 68-22-4 6230
7
Ganirelix Approved Phase 4,Phase 2,Phase 3 123246-29-7, 124904-93-4 25081094
8
Leuprolide Approved, Investigational Phase 4,Phase 3,Phase 2 53714-56-0 3911 657181
9
Lenograstim Approved Phase 4 135968-09-1
10
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
11
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
12
Doxil Approved June 1999 Phase 4,Phase 3 31703
13
Enclomiphene Investigational Phase 4 15690-57-0
14 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
15 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
17 Progestins Phase 4,Phase 2,Phase 3,Early Phase 1
18 Alkylating Agents Phase 4,Phase 3,Phase 2
19 Anti-Bacterial Agents Phase 4,Phase 3
20 Antibiotics, Antitubercular Phase 4,Phase 3
21 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2
22 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Early Phase 1
23 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
24 Topoisomerase Inhibitors Phase 4,Phase 3
25 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
26 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 979-32-8
30 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
31 Contraceptives, Oral Phase 4,Phase 3,Phase 2
32
Lactitol Phase 4 585-86-4 3871
33 Norethindrone acetate Phase 4,Phase 2,Phase 3
34 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
35 Norinyl Phase 4
36 Chorionic Gonadotropin Phase 4
37 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
38 Deslorelin Phase 4,Phase 2,Phase 3
39 Luteolytic Agents Phase 4,Phase 2,Phase 3
40 Triptorelin Pamoate Phase 4,Phase 2,Phase 3
41 Fertility Agents Phase 4,Phase 3,Phase 2
42 Micronutrients Phase 4,Phase 3
43 Trace Elements Phase 4,Phase 3
44 Vitamins Phase 4,Phase 3,Phase 2
45 Clomiphene Phase 4
46 Estrogen Antagonists Phase 4,Phase 2
47 Estrogen Receptor Modulators Phase 4
48 Selective Estrogen Receptor Modulators Phase 4
49 Zuclomiphene Phase 4
50 Bone Density Conservation Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 205)
id Name Status NCT ID Phase
1 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 Phase 4
2 Intrauterine Insemination and Luteal Fase Support Unknown status NCT01826747 Phase 4
3 Pharmacogenetics as a Predictor of Toxicity in Pre-Menopausal Women Receiving Doxorubicin and Cyclophosphamide in Early Breast Cancer Unknown status NCT00352872 Phase 4
4 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
5 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4
6 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
7 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
8 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4
9 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4
10 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4
11 Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure Completed NCT00732693 Phase 4
12 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4
13 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4
14 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
15 Modified Natural Cycle Offers a Chance of Pregnancy in Patients With Poor Response and High Basal FSH Completed NCT00417157 Phase 4
16 Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders Completed NCT00417066 Phase 4
17 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
18 Weight Loss Improves Renal Hemodynamics Completed NCT01356394 Phase 4
19 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4
20 Efficacy Study Comparing the Effect of Clomiphencitrate to an Antagonist Protocol Recruiting NCT01577472 Phase 4
21 Vitamin D Treatment, Pharmacogenetics and Glucose Metabolism Recruiting NCT01721915 Phase 4
22 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4
23 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4
24 Effect of Cetrorelex Acetate on Ovarian Function in Women Undergoing Chemotherapy Withdrawn NCT00507780 Phase 4
25 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Unknown status NCT01813630 Phase 3
26 Fertility Preservation by Ovarian and Oocyte Cryopreservation Unknown status NCT00578500 Phase 2, Phase 3
27 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3
28 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3
29 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3
30 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3
31 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3
32 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3
33 Efficiency of Gonadotropin-releasing Hormone (GnRH) Agonist in Preventing Chemotherapy Induced Ovarian Failure Completed NCT01160315 Phase 2, Phase 3
34 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3
35 Somatropin Treatment in Patients With SHOX Deficiency and Turner Syndrome Completed NCT00190658 Phase 3
36 S0230 Goserelin in Preventing Ovarian Failure in Women Receiving Chemotherapy for Breast Cancer Completed NCT00068601 Phase 3
37 Administration During Chemotherapy to Reduce Ovarian Failure Following Chemotherapy in Early Stage, Hormone-Receptor Negative Breast Cancer Completed NCT01530607 Phase 3
38 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3
39 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3
40 Perimenopausal Estrogen Replacement Therapy Study Completed NCT01308814 Phase 2, Phase 3
41 PROtecting Ovaries and Fertility During Chemotherapy - The PROOF Trial Completed NCT00380406 Phase 3
42 Goserelin in Preventing Early Menopause in Premenopausal Women Undergoing Chemotherapy for Stage I, Stage II, or Stage III Breast Cancer Completed NCT00427245 Phase 3
43 Triptorelin in Preventing Early Menopause in Premenopausal Women Who Are Receiving Chemotherapy for Stage I, Stage II, or Stage III Breast Cancer That Has Been Removed By Surgery Completed NCT00311636 Phase 3
44 Pilot Study Comparing Hypnotherapy and Gabapentin for Hot Flashes. Completed NCT00711529 Phase 3
45 Combination Chemotherapy in Treating Young Patients With Hodgkin's Lymphoma Completed NCT00433459 Phase 3
46 Endometrial Injury and IVF Outcome Parameters in Patients With Failed IVF Cycles Completed NCT01798862 Phase 2, Phase 3
47 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3
48 Effects of GnRHa on Ovarian Function Against Chemotherapy-induced-gonadotoxicity Recruiting NCT02518191 Phase 3
49 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
50 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3

Search NIH Clinical Center for Premature Ovarian Failure

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Premature Ovarian Failure cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: primary ovarian insufficiency

Genetic Tests for Premature Ovarian Failure

Genetic tests related to Premature Ovarian Failure:

id Genetic test Affiliating Genes
1 Premature Ovarian Failure 29
2 Premature Ovarian Failure 2a 29 24 DIAPH2
3 Hypergonadotropic Hypogonadism 29

Anatomical Context for Premature Ovarian Failure

MalaCards organs/tissues related to Premature Ovarian Failure:

39
Ovary, Testes, Bone, Breast, Thyroid, Endothelial, Pituitary
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 Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
2 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
3 Ovary Ovigerous Cord Ovum Potential therapeutic candidate, affected by disease
4 Ovary Primary Follicle Primary Oocyte Potential therapeutic candidate, affected by disease
5 Ovary Primordial Follicle Primary Oocyte Potential therapeutic candidate, affected by disease
6 Ovary Antral Follicle Secondary Oocyte Potential therapeutic candidate, affected by disease
7 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Premature Ovarian Failure

Articles related to Premature Ovarian Failure:

(show top 50) (show all 626)
id Title Authors Year
1
Physical training promotes similar effects to the blockade of angiotensin-converting enzyme on the cardiac morphology and function in old female rats subjected to premature ovarian failure. ( 28408160 )
2017
2
A general description for Chinese medicine in treating premature ovarian failure. ( 28265850 )
2017
3
Study of the reparative effects of menstrual-derived stem cells on premature ovarian failure in mice. ( 28114977 )
2017
4
Erratum to: Study of the reparative effects of menstrual-derived stem cells on premature ovarian failure in mice. ( 28274255 )
2017
5
The potentiality of two-dimensional preantral follicle culture as an in vitro model in predicting premature ovarian failure. ( 28483347 )
2017
6
Premature Ovarian Failure - An Unusual Manifestation of Systemic Sclerosis. ( 28479757 )
2017
7
Gonadotropin-releasing hormone analogues for the prevention of chemotherapy-induced premature ovarian failure in breast cancer patients. ( 28398024 )
2017
8
Ginsenoside Rg1 improves fertility and reduces ovarian pathological damages in premature ovarian failure model of mice. ( 28178855 )
2017
9
Deriving cells expressing markers of female germ cells from premature ovarian failure patient-specific induced pluripotent stem cells. ( 28244827 )
2017
10
Cyclophosphamide promotes the proliferation inhibition of mouse ovarian granulosa cells and premature ovarian failure by activating the lncRNA-Meg3-p53-p66Shc pathway. ( 27729272 )
2017
11
Effects of Bushen Tianjing Recipe in a rat model of tripterygium glycoside-induced premature ovarian failure. ( 28439292 )
2017
12
BMP15 and GDF9 Gene Mutations in Premature Ovarian Failure. ( 28377898 )
2017
13
Very low doses of heavy oxygen ion radiation induce premature ovarian failure. ( 28528322 )
2017
14
Role of SDF-1/CXCR4 and cytokines in the development of ovary injury in chemotherapy drug induced premature ovarian failure mice. ( 28478265 )
2017
15
Premature Ovarian Failure in French Canadian Leigh Syndrome. ( 28284481 )
2017
16
DTC chemotherapy regimen is associated with higher incidence of premature ovarian failure in women of reproductive age with breast cancer. ( 27049261 )
2016
17
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. ( 27301361 )
2016
18
Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis. ( 27841182 )
2016
19
Hydrogen-rich Water Exerting a Protective Effect on Ovarian Reserve Function in a Mouse Model of Immune Premature Ovarian Failure Induced by Zona Pellucida 3. ( 27647193 )
2016
20
Activation of dormant follicles: a new treatment for premature ovarian failure? ( 27022685 )
2016
21
Telocytes as potential targets in a cyclophosphamide-induced animal model of premature ovarian failure. ( 27485835 )
2016
22
Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure. ( 26774993 )
2016
23
Resveratrol inhibits inflammatory signaling implicated in ionizing radiation-induced premature ovarian failure through antagonistic crosstalk between silencing information regulator 1 (SIRT1) and poly(ADP-ribose) polymerase 1 (PARP-1). ( 26827941 )
2016
24
Effect of melatonin on the peripheral T lymphocyte cell cycle and levels of reactive oxygen species in patients with premature ovarian failure. ( 28105091 )
2016
25
Autoimmune premature ovarian failure. ( 28250725 )
2016
26
TRADITIONAL CHINESE MEDICINE COMBINED WITH HORMONE THERAPY TO TREAT PREMATURE OVARIAN FAILURE: A META-ANALYSIS OF RANDOMIZED CONTROLLED TRIALS. ( 28487907 )
2016
27
Prevalence of premature ovarian failure in systemic lupus erythematosus patients treated with immunosuppressive agents in Thailand. ( 26621134 )
2016
28
Growth hormone treatment of premature ovarian failure in a mouse model via stimulation of the Notch-1 signaling pathway. ( 27347041 )
2016
29
The Use of Thiol/Disulfide as a Novel Marker in Premature Ovarian Failure. ( 27064983 )
2016
30
Effect and mechanism of Bushen Huoxue recipe on ovarian reserve in mice with premature ovarian failure. ( 27465335 )
2016
31
Letter to the Editor - DTC chemotherapy regimen is associated with higher incidence of premature ovarian failure in women of reproductive age with breast cancer. ( 27775808 )
2016
32
Human umbilical cord blood-mesenchymal stem cells transplantation renovates the ovarian surface epithelium in a rat model of premature ovarian failure: Possible direct and indirect effects. ( 27233913 )
2016
33
Premature Ovarian Failure: An Association with Autoimmune Diseases. ( 27891401 )
2016
34
The Role of Premature Ovarian Failure Awareness in Female Sexual Functions and Distress. ( 27015038 )
2016
35
Transplantation of ovarian granulosaa89like cells derived from human induced pluripotent stem cells for the treatment of murine premature ovarian failure. ( 27121006 )
2016
36
Vitamin D Levels in Patients with Premature Ovarian Failure. ( 27306466 )
2016
37
Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients. ( 27989800 )
2016
38
FMR1 premutation: not only important in premature ovarian failure but also in diminished ovarian reserve. ( 27876427 )
2016
39
Human Umbilical Cord Mesenchymal Stem Cells Therapy in Cyclophosphamide-Induced Premature Ovarian Failure Rat Model. ( 27047962 )
2016
40
Hormone Replacement Therapy Versus the Combined Oral Contraceptive Pill in Premature Ovarian Failure: A Randomized Controlled Trial of the Effects on Bone Mineral Density. ( 27340881 )
2016
41
Association between premature ovarian failure, polymorphisms in MTHFR and MTRR genes and serum homocysteine concentration. ( 26874989 )
2016
42
The comparison of animal models for premature ovarian failure established by several different source of inducers. ( 27612992 )
2016
43
Premature ovarian failure: clinical presentation and treatment. ( 25681846 )
2015
44
Novel WT1 Missense Mutations in Han Chinese Women with Premature Ovarian Failure. ( 26358501 )
2015
45
CSB-PGBD3 Mutations Cause Premature Ovarian Failure. ( 26218421 )
2015
46
Prevalence of premature ovarian failure in patients with systemic lupus erythematosus. ( 26678443 )
2015
47
Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations. ( 25989972 )
2015
48
The role of autoimmunity in premature ovarian failure. ( 26568748 )
2015
49
The genetics of premature ovarian failure: current perspectives. ( 26445561 )
2015
50
Aetiological profile of women presenting with premature ovarian failure to a single tertiary care center in Oman. ( 25998044 )
2015

Variations for Premature Ovarian Failure

ClinVar genetic disease variations for Premature Ovarian Failure:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DIAPH2 DIAPH2, INTRONIC BREAKPOINT undetermined variant Pathogenic
2 ALMS1; NAT8 NC_000002.11: g.73828493_73900329del71837 copy number loss Pathogenic GRCh37 Chromosome 2, 73828493: 73900329
3 subset of 31 genes:GATA4 NC_000008.10: g.8131816_12249050del4117235 copy number loss Pathogenic GRCh37 Chromosome 8, 8131816: 12249050
4 subset of 162 genes:ACSL4; BTK; CHRDL1; COL4A5; CUL4B; DCX; GLA; LAMP2; NXF5; PAK3; PLP1; PRPS1; TIMM8A; UBE2A; UPF3B NC_000023.10: g.99931059_120328627del20397569 copy number loss Pathogenic GRCh37 Chromosome X, 99931059: 120328627
5 SGO2 NM_152524.5(SGO2): c.1453_1454delGA (p.Glu485Lysfs) deletion Pathogenic rs1057519602 GRCh38 Chromosome 2, 200571799: 200571800

Copy number variations for Premature Ovarian Failure from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 255082 9 72339785 73251640 Duplication TRPM3 Primary ovarian insufficiency
2 257158 X 1 4300000 Duplication PRKX Premature ovarian failure
3 258989 X 129800000 154913754 Copy number Premature ovarian failure
4 261305 X 17100000 56600000 Copy number Premature ovarian failure
5 265094 X 73800000 76000000 Duplication ABCB7 Premature ovarian failure
6 265095 X 73800000 76000000 Duplication ZDHHC15 Premature ovarian failure
7 265096 X 73800000 84500000 Copy number Premature ovarian failure

Expression for Premature Ovarian Failure

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

Pathways for Premature Ovarian Failure

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

id Super pathways Score Top Affiliating Genes
1 10.96 BMP15 CYP19A1 FSHR GDF9
2 10.67 CYP19A1 FIGLA FSHR GDF9 INHA MSH5
3 10.59 CYP19A1 FSHR

GO Terms for Premature Ovarian Failure

Biological processes related to Premature Ovarian Failure according to GeneCards Suite gene sharing:

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.72 FSHR INHA NR5A1
2 BMP signaling pathway GO:0030509 9.71 BMP15 GDF9 INHA
3 SMAD protein signal transduction GO:0060395 9.69 BMP15 GDF9 INHA
4 meiotic cell cycle GO:0051321 9.67 HFM1 MSH5 STAG3 SYCE1
5 cell development GO:0048468 9.65 BMP15 GDF9 INHA
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.63 BMP15 GDF9 INHA
7 oogenesis GO:0048477 9.58 DIAPH2 FIGLA NOBOX
8 hormone-mediated signaling pathway GO:0009755 9.57 FSHR NR5A1
9 synaptonemal complex assembly GO:0007130 9.56 STAG3 SYCE1
10 regulation of MAPK cascade GO:0043408 9.56 BMP15 FSHR GDF9 INHA
11 uterus development GO:0060065 9.5 CYP19A1 FOXL2 FSHR
12 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.49 FOXL2 INHA
13 ovarian follicle development GO:0001541 9.46 BMP15 FOXL2 INHA NOBOX
14 oocyte growth GO:0001555 9.43 FOXL2 GDF9
15 female gonad development GO:0008585 9.26 CYP19A1 FOXL2 FSHR NR5A1
16 female gamete generation GO:0007292 9.02 BMP15 DIAPH2 FSHR GDF9 MCM8
17 cell differentiation GO:0030154 10 DIAPH2 FIGLA FOXL2 INHA NOBOX NR5A1

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

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.13 BMP15 GDF9 INHA
2 transforming growth factor beta receptor binding GO:0005160 8.8 BMP15 GDF9 INHA

Sources for Premature Ovarian Failure

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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