MCID: PRM196
MIFTS: 68

Premature Ovarian Failure 1

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 1

MalaCards integrated aliases for Premature Ovarian Failure 1:

Name: Premature Ovarian Failure 1 53 71 28 13 37
Premature Ovarian Failure 37 12 72 36 28 13 40 14
Hypergonadotropic Hypogonadism 12 28 51
Primary Ovarian Insufficiency 12 71 41
Primary Ovarian Insufficiency, Fragile X-Associated 53 69
Hypergonadotropic Ovarian Failure, X-Linked 53 69
Ovarian Failure, Premature 53 69
Ovarian Failure Premature 71 51
Premature Menopause 12 69
Pof1 53 71
Pofx 53 71
Pof 53 71
Hypergonadotropic Ovarian Failure X-Linked 71
Premature Ovarian Failure, X-Linked; Pofx 53
Premature Ovarian Failure, X-Linked 53
Fragile X Premature Ovarian Failure 53
Premature Ovarian Failure X-Linked 71
Ovarian Failure, Premature; Pof 53
Premature Ovarian Insufficiency 12
Hypogonadism, Hypergonadotropic 13
Primary Hypogonadism 69
Turner Syndrome 69
Poi 71

Characteristics:

OMIM:

53
Inheritance:
x-linked


HPO:

31
premature ovarian failure 1:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 53 311360
Disease Ontology 12 DOID:5426
ICD10 32 E28.3
MeSH 41 D016649
NCIt 46 C113352
KEGG 36 H00627
SNOMED-CT via HPO 65 80182007 263934009 373717006

Summaries for Premature Ovarian Failure 1

MedlinePlus : 40 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 1, also known as premature ovarian failure, is related to fmr1-related primary ovarian insufficiency and hypogonadotropism, and has symptoms including abnormality of metabolism/homeostasis, increased circulating gonadotropin level and menstrual irregularities. An important gene associated with Premature Ovarian Failure 1 is FMR1 (Fragile X Mental Retardation 1), and among its related pathways/superpathways are Calcium signaling pathway and Neuroactive ligand-receptor interaction. The drugs Progesterone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Umbilical Cord, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

OMIM : 53 Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, 233300) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). (311360)

UniProtKB/Swiss-Prot : 71 Premature ovarian failure 1: 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 : 72 Premature ovarian failure (POF) is the loss of function of the ovaries before age 40. A commonly cited... more...

Related Diseases for Premature Ovarian Failure 1

Diseases in the Premature Ovarian Failure 2a family:

Premature Ovarian Failure 2b Premature Ovarian Failure 1
Premature Ovarian Failure 3 Premature Ovarian Failure 5
Premature Ovarian Failure 6 Premature Ovarian Failure 10
Premature Ovarian Failure 7 Premature Ovarian Failure 8
Premature Ovarian Failure 9 Premature Ovarian Failure 11
Premature Ovarian Failure 12 Premature Ovarian Failure 13

Diseases related to Premature Ovarian Failure 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 fmr1-related primary ovarian insufficiency 33.1 FMR1 MCM9
2 hypogonadotropism 30.7 GNRH1 PRL
3 blepharophimosis, ptosis, and epicanthus inversus 30.6 BMP15 FOXL2 FOXP2
4 gonadal dysgenesis 30.2 AMH BMP15 FOXL2 FSHR WT1
5 infertility 30.1 CYP19A1 DAZL FSHR GNRH1 INHA PRL
6 amenorrhea 30.1 BMP15 FSHR GNRH1 NOBOX PRL SHBG
7 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 12.6
8 premature ovarian failure 3 12.6
9 premature menopause 12.4
10 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 12.4
11 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 12.2
12 hypergonadotropic hypogonadism and partial alopecia 12.1
13 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism 12.1
14 cerebellar ataxia and hypergonadotropic hypogonadism 12.1
15 microcephaly hypergonadotropic hypogonadism short stature 12.1
16 postorgasmic illness syndrome 12.0
17 galactosemia 11.4
18 aromatase deficiency 11.4
19 leydig cell hypoplasia, type i 11.4
20 leydig cell hypoplasia 11.2
21 marinesco-sjogren syndrome 11.2
22 short stature, microcephaly, and endocrine dysfunction 11.2
23 ovarian dysgenesis 1 11.1
24 autoimmune oophoritis 11.1
25 hypogonadism-cataract syndrome 11.1
26 hypogonadism, male, with mental retardation and skeletal anomalies 11.1
27 hutchinson-gilford progeria syndrome 11.0
28 richards-rundle syndrome 11.0
29 nijmegen breakage syndrome 11.0
30 ovarian dysgenesis 2 11.0
31 ovarian dysgenesis 3 11.0
32 ovarian dysgenesis 4 11.0
33 ovarian dysgenesis 5 11.0
34 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 11.0
35 lubinsky syndrome 11.0
36 premature ovarian failure 10 10.9
37 premature ovarian failure 8 10.9
38 premature ovarian failure 9 10.9
39 premature ovarian failure 11 10.9
40 hypogonadism 10.7
41 uterine hypoplasia 10.6 BMP15 MCM9
42 twinning, dizygotic 10.6 FSHR INHA
43 precocious puberty, male-limited 10.6 CYP19A1 FSHR
44 pituitary infarct 10.6 GNRH1 PRL
45 oocyte maturation defect 1 10.6 BMP15 CYP19A1
46 hypoactive sexual desire disorder 10.6 CYP19A1 SHBG
47 endometriosis of uterus 10.6 GNRH1 PRL
48 46,xx sex reversal 1 10.5 BMP15 FSHR
49 hypothalamic disease 10.5 GNRH1 PRL
50 chiasmal syndrome 10.5 GNRH1 PRL

Graphical network of the top 20 diseases related to Premature Ovarian Failure 1:



Diseases related to Premature Ovarian Failure 1

Symptoms & Phenotypes for Premature Ovarian Failure 1

Symptoms via clinical synopsis from OMIM:

53
Genitourinary Internal Genitalia Female:
cessation of menstruation before 40 years of age
premature ovarian failure

Endocrine Features:
premature ovarian failure


Clinical features from OMIM:

311360

Human phenotypes related to Premature Ovarian Failure 1:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 increased circulating gonadotropin level 31 HP:0000837
3 menstrual irregularities 31 HP:0000858
4 premature ovarian insufficiency 31 HP:0008209

UMLS symptoms related to Premature Ovarian Failure 1:


pelvic pain

MGI Mouse Phenotypes related to Premature Ovarian Failure 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.24 BMP15 CYP11A1 CYP19A1 FMR1 FOXL2 FSHR
2 homeostasis/metabolism MP:0005376 10.07 GNRH1 INHA MCM9 PRL STAR WT1
3 growth/size/body region MP:0005378 10.06 CYP11A1 CYP19A1 FMR1 FOXL2 FSHR GNRH1
4 liver/biliary system MP:0005370 9.7 CYP11A1 CYP19A1 GNRH1 INHA MCM9 PRL
5 neoplasm MP:0002006 9.5 AMH FSHR GNRH1 INHA MCM9 PRL
6 reproductive system MP:0005389 9.5 AMH BMP15 CYP11A1 CYP19A1 FMR1 FOXL2

Drugs & Therapeutics for Premature Ovarian Failure 1

Drugs for Premature Ovarian Failure 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 187)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 57-83-0 5994
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-28-2 5757
3
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Not Applicable 57-63-6 5991
4
Norethindrone Approved Phase 4,Phase 2,Phase 3,Not Applicable 68-22-4 6230
5
Ganirelix Approved Phase 4 124904-93-4, 123246-29-7 25081094
6
Leuprolide Approved, Investigational Phase 4,Phase 2 53714-56-0 657181 3911
7
Dopamine Approved Phase 4,Not Applicable 51-61-6, 62-31-7 681
8
Lenograstim Approved, Investigational Phase 4 135968-09-1
9
Lactitol Investigational Phase 4 585-86-4 3871
10 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
11 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Contraceptive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Contraceptives, Oral Phase 4,Phase 2,Phase 3,Not Applicable
16 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 979-32-8
19 Norethindrone acetate Phase 4,Phase 2,Phase 3,Not Applicable
20 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
21 Norinyl Phase 4
22 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
23 Progestins Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
24 Chorionic Gonadotropin Phase 4
25 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Deslorelin Phase 4,Phase 2,Phase 3
27 Luteolytic Agents Phase 4,Phase 2,Phase 3,Not Applicable
28 Triptorelin Pamoate Phase 4,Phase 2,Phase 3,Not Applicable
29 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
30 Central Nervous System Stimulants Phase 4,Phase 1,Phase 2,Not Applicable
31 Dopamine Agents Phase 4,Not Applicable
32 Dopamine Uptake Inhibitors Phase 4,Not Applicable
33 Lisdexamfetamine Dimesylate Phase 4,Not Applicable
34 Neurotransmitter Uptake Inhibitors Phase 4,Not Applicable
35 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
36 Hypoglycemic Agents Phase 4
37 insulin Phase 4
38 Insulin, Globin Zinc Phase 4
39
Testosterone Approved, Investigational Phase 3,Phase 2,Phase 1 58-22-0 6013
40
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
41
Goserelin Approved Phase 3 65807-02-5 5311128 47725
42
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
43
Epirubicin Approved Phase 3 56420-45-2 41867
44
Fluorouracil Approved Phase 3 51-21-8 3385
45
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
46
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
47
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
48
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
49
gamma-Aminobutyric acid Approved, Investigational Phase 3 56-12-2 119
50
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9

Interventional clinical trials:

(show top 50) (show all 185)

# Name Status NCT ID Phase Drugs
1 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 Phase 4
2 Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure Completed NCT00732693 Phase 4 Ethinylestradiol / Norethisterone;Estradiol / Progesterone
3 Modified Natural Cycle Offers a Chance of Pregnancy in Patients With Poor Response and High Basal FSH Completed NCT00417157 Phase 4 recombinant FSH (Puregon, Organon, The Netherlands);GnRH antag: Ganirelix (Orgalutran, Organon, The Netherlands);hCG (Pregnyl, Organon, The Netherlands)
4 Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders Completed NCT00417066 Phase 4 Ganirelix 0.25mg (Orgalutran, Organon, The Netherlands);Arvekap 0.1mg (Triptorelin, Ipsen, France)
5 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
6 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
7 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
8 A Study to Evaluate Subjects With Turner Syndrome Treated With Growth Hormone Completed NCT00097552 Phase 4
9 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
10 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
11 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
12 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
13 Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD) Completed NCT00097526 Phase 4
14 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
15 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
16 IMProving Executive Function Study Recruiting NCT03187353 Phase 4 Lisdexamfetamine;Placebo oral capsule
17 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
18 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4 Saline
19 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4 somatropin (rDNA)
20 Effect of Cetrorelex Acetate on Ovarian Function in Women Undergoing Chemotherapy Withdrawn NCT00507780 Phase 4 GnRH antagonist
21 Efficiency of Gonadotropin-releasing Hormone (GnRH) Agonist in Preventing Chemotherapy Induced Ovarian Failure Completed NCT01160315 Phase 2, Phase 3 Triptorelin;Norethisterone acetate
22 Goserelin in Preventing Early Menopause in Premenopausal Women Undergoing Chemotherapy for Stage I, Stage II, or Stage III Breast Cancer Completed NCT00427245 Phase 3 cyclophosphamide;goserelin acetate
23 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 cyclophosphamide;docetaxel;doxorubicin hydrochloride;epirubicin hydrochloride;fluorouracil;methotrexate;paclitaxel;triptorelin
24 S0230 Goserelin in Preventing Ovarian Failure in Women Receiving Chemotherapy for Breast Cancer Completed NCT00068601 Phase 3 cyclophosphamide;goserelin acetate
25 Administration During Chemotherapy to Reduce Ovarian Failure Following Chemotherapy in Early Stage, Hormone-Receptor Negative Breast Cancer Completed NCT01530607 Phase 3 Standard cyclophosphamide;Goserelin (Zoladex)
26 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
27 Pilot Study Comparing Hypnotherapy and Gabapentin for Hot Flashes. Completed NCT00711529 Phase 3 gabapentin
28 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
29 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
30 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
31 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
32 Combination Chemotherapy in Treating Young Patients With Hodgkin's Lymphoma Completed NCT00433459 Phase 3 cyclophosphamide;dacarbazine;prednisolone;prednisone;procarbazine hydrochloride;vincristine sulfate
33 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
34 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
35 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
36 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
37 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
38 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Active, not recruiting NCT01813630 Phase 3 DA-3002;Genotropin®
39 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
40 Effect of Exercise and Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
41 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
42 Goserelin Acetate Study for Ovarian Function in Patients With Primary Breast Cancer Terminated NCT00429403 Phase 3 Goserelin
43 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
44 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
45 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
46 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure Completed NCT02151890 Phase 1, Phase 2
47 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
48 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
49 Bioidentical 'Natural' Hormone Evaluation in Early Menopause Completed NCT00302731 Phase 2 Prempro, premarin, provera conjugated estrogens, medroxyprogesterone acetate;Estradiol , estriol , progesterone;estradiol,progesterone;estriol, progesterone
50 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate

Search NIH Clinical Center for Premature Ovarian Failure 1

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Premature Ovarian Failure 1 cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: primary ovarian insufficiency

Genetic Tests for Premature Ovarian Failure 1

Genetic tests related to Premature Ovarian Failure 1:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 1 28 FMR1
2 Premature Ovarian Failure 28
3 Hypergonadotropic Hypogonadism 28

Anatomical Context for Premature Ovarian Failure 1

MalaCards organs/tissues related to Premature Ovarian Failure 1:

38
Ovary, Testes, Bone
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Premature Ovarian Failure 1:
# 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 1

Articles related to Premature Ovarian Failure 1:

(show top 50) (show all 627)
# Title Authors Year
1
Chronic cholestasis is associated with hypogonadism and premature ovarian failure in adult rats (cholestasis causes ovarian hypogonadism). ( 29297778 )
2018
2
Cyclophosphamide promotes the proliferation inhibition of mouse ovarian granulosa cells and premature ovarian failure by activating the lncRNA-Meg3-p53-p66Shc pathway. ( 27729272 )
2017
3
Study of the reparative effects of menstrual-derived stem cells on premature ovarian failure in mice. ( 28114977 )
2017
4
The potentiality of two-dimensional preantral follicle culture as an in vitro model in predicting premature ovarian failure. ( 28483347 )
2017
5
BMP15 and GDF9 Gene Mutations in Premature Ovarian Failure. ( 28377898 )
2017
6
Premature Ovarian Failure in French Canadian Leigh Syndrome. ( 28284481 )
2017
7
Very low doses of heavy oxygen ion radiation induce premature ovarian failure. ( 28528322 )
2017
8
Learning disability in a son and premature ovarian failure as clinical pointers to identify a premutation on the X chromosome in a female with long-standing tremor. ( 28641937 )
2017
9
Deriving cells expressing markers of female germ cells from premature ovarian failure patient-specific induced pluripotent stem cells. ( 28244827 )
2017
10
A general description for Chinese medicine in treating premature ovarian failure. ( 28265850 )
2017
11
Ginsenoside Rg1 improves fertility and reduces ovarian pathological damages in premature ovarian failure model of mice. ( 28178855 )
2017
12
Role of SDF-1/CXCR4 and cytokines in the development of ovary injury in chemotherapy drug induced premature ovarian failure mice. ( 28478265 )
2017
13
Premature Ovarian Failure - An Unusual Manifestation of Systemic Sclerosis. ( 28479757 )
2017
14
Gonadotropin-releasing hormone analogues for the prevention of chemotherapy-induced premature ovarian failure in breast cancer patients. ( 28398024 )
2017
15
Effects of Bushen Tianjing Recipe in a rat model of tripterygium glycoside-induced premature ovarian failure. ( 28439292 )
2017
16
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
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
The comparison of animal models for premature ovarian failure established by several different source of inducers. ( 27612992 )
2016
19
DTC chemotherapy regimen is associated with higher incidence of premature ovarian failure in women of reproductive age with breast cancer. ( 27049261 )
2016
20
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
21
Association between premature ovarian failure, polymorphisms in MTHFR and MTRR genes and serum homocysteine concentration. ( 26874989 )
2016
22
Autoimmune premature ovarian failure. ( 28250725 )
2016
23
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
24
Prevalence of premature ovarian failure in systemic lupus erythematosus patients treated with immunosuppressive agents in Thailand. ( 26621134 )
2016
25
Telocytes as potential targets in a cyclophosphamide-induced animal model of premature ovarian failure. ( 27485835 )
2016
26
TRADITIONAL CHINESE MEDICINE COMBINED WITH HORMONE THERAPY TO TREAT PREMATURE OVARIAN FAILURE: A META-ANALYSIS OF RANDOMIZED CONTROLLED TRIALS. ( 28487907 )
2016
27
Activation of dormant follicles: a new treatment for premature ovarian failure? ( 27022685 )
2016
28
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
29
Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure. ( 26774993 )
2016
30
Vitamin D Levels in Patients with Premature Ovarian Failure. ( 27306466 )
2016
31
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
32
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
33
FMR1 premutation: not only important in premature ovarian failure but also in diminished ovarian reserve. ( 27876427 )
2016
34
The Use of Thiol/Disulfide as a Novel Marker in Premature Ovarian Failure. ( 27064983 )
2016
35
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
36
Human Umbilical Cord Mesenchymal Stem Cells Therapy in Cyclophosphamide-Induced Premature Ovarian Failure Rat Model. ( 27047962 )
2016
37
Effect of melatonin on the peripheral T lymphocyte cell cycle and levels of reactive oxygen species in patients with premature ovarian failure. ( 28105091 )
2016
38
Premature Ovarian Failure: An Association with Autoimmune Diseases. ( 27891401 )
2016
39
Transplantation of ovarian granulosaa89like cells derived from human induced pluripotent stem cells for the treatment of murine premature ovarian failure. ( 27121006 )
2016
40
The Role of Premature Ovarian Failure Awareness in Female Sexual Functions and Distress. ( 27015038 )
2016
41
Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients. ( 27989800 )
2016
42
Growth hormone treatment of premature ovarian failure in a mouse model via stimulation of the Notch-1 signaling pathway. ( 27347041 )
2016
43
Effect and mechanism of Bushen Huoxue recipe on ovarian reserve in mice with premature ovarian failure. ( 27465335 )
2016
44
Granulin levels in patients with idiopathic premature ovarian failure. ( 26277782 )
2015
45
Rictor/mTORC2 pathway in oocytes regulates folliculogenesis, and its inactivation causes premature ovarian failure. ( 25564616 )
2015
46
MicroRNA-22-3p is down-regulated in the plasma of Han Chinese patients with premature ovarian failure. ( 25585503 )
2015
47
Prevalence of premature ovarian failure in patients with systemic lupus erythematosus. ( 26678443 )
2015
48
Tripterygium glycosides induce premature ovarian failure in rats by promoting p53 phosphorylation and activating the serine/threonine kinase 11-p53-p21 signaling pathway. ( 26170905 )
2015
49
Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in POF1B and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3). ( 25676666 )
2015
50
Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations. ( 25989972 )
2015

Variations for Premature Ovarian Failure 1

ClinVar genetic disease variations for Premature Ovarian Failure 1:

6
# 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
4 ALMS1; NAT8 GRCh37/hg19 2p13.1(chr2: 73828493-73900329)x1 copy number loss Pathogenic GRCh37 Chromosome 2, 73828493: 73900329
5 subset of 30 genes:GATA4 GRCh37/hg19 8p23.1(chr8: 8131816-12249050)x1 copy number loss Pathogenic GRCh37 Chromosome 8, 8131816: 12249050
6 subset of 160 genes:ACSL4; BTK; CHRDL1; COL4A5; CUL4B; DCX; GLA; LAMP2; NXF5; PAK3; PLP1; PRPS1; TIMM8A; UBE2A; UPF3B GRCh37/hg19 Xq22.1-24(chrX: 99931059-120328627)x1 copy number loss Pathogenic GRCh37 Chromosome X, 99931059: 120328627
7 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 1 from CNVD:

7
# 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 1

Search GEO for disease gene expression data for Premature Ovarian Failure 1.

Pathways for Premature Ovarian Failure 1

Pathways related to Premature Ovarian Failure 1 according to KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Neuroactive ligand-receptor interaction hsa04080
3 Regulation of actin cytoskeleton hsa04810

GO Terms for Premature Ovarian Failure 1

Biological processes related to Premature Ovarian Failure 1 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.88 AMH BMP15 GDF9 GNRH1 INHA PRL
2 steroid biosynthetic process GO:0006694 9.73 CYP11A1 CYP19A1 STAR
3 male gonad development GO:0008584 9.73 FSHR INHA STAR WT1
4 SMAD protein signal transduction GO:0060395 9.72 BMP15 GDF9 INHA
5 cell development GO:0048468 9.69 BMP15 GDF9 INHA
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.67 BMP15 GDF9 INHA
7 ovarian follicle development GO:0001541 9.65 BMP15 FOXL2 INHA
8 BMP signaling pathway GO:0030509 9.62 AMH BMP15 GDF9 INHA
9 estrogen biosynthetic process GO:0006703 9.6 CYP19A1 STAR
10 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.59 FSHR STAR
11 C21-steroid hormone biosynthetic process GO:0006700 9.58 CYP11A1 STAR
12 sex determination GO:0007530 9.58 AMH WT1
13 cellular response to gonadotropin stimulus GO:0071371 9.57 STAR WT1
14 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.54 FOXL2 INHA
15 female gonad development GO:0008585 9.54 CYP19A1 FOXL2 FSHR
16 testosterone biosynthetic process GO:0061370 9.52 CYP19A1 STAR
17 oocyte growth GO:0001555 9.46 FOXL2 GDF9
18 uterus development GO:0060065 9.43 CYP19A1 FOXL2 FSHR
19 gonad development GO:0008406 9.33 AMH FSHR WT1
20 regulation of MAPK cascade GO:0043408 9.26 BMP15 FSHR GDF9 INHA
21 female gamete generation GO:0007292 8.92 BMP15 FSHR GDF9 MCM9
22 cell differentiation GO:0030154 10.08 AMH DAZL FOXL2 FOXP2 INHA NOBOX

Molecular functions related to Premature Ovarian Failure 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.46 AMH BMP15 GDF9 INHA
2 hormone activity GO:0005179 9.26 AMH GNRH1 INHA PRL
3 transforming growth factor beta receptor binding GO:0005160 8.92 AMH BMP15 GDF9 INHA

Sources for Premature Ovarian Failure 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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