POF1
MCID: PRM196
MIFTS: 70

Premature Ovarian Failure 1 (POF1)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 1

MalaCards integrated aliases for Premature Ovarian Failure 1:

Name: Premature Ovarian Failure 1 57 74 29 13 6 38
Premature Ovarian Failure 12 75 37 29 6 15
Primary Ovarian Insufficiency 12 74 43 44 17
Hypergonadotropic Hypogonadism 12 55 6
Ovarian Failure, Premature 57 40 72
Primary Ovarian Insufficiency, Fragile X-Associated 57 72
Hypergonadotropic Ovarian Failure, X-Linked 57 72
Premature Ovarian Insufficiency 12 6
Ovarian Failure Premature 74 55
Premature Menopause 12 72
Pof1 57 74
Pofx 57 74
Pof 57 74
Hypergonadotropic Ovarian Failure X-Linked 74
Premature Ovarian Failure, X-Linked; Pofx 57
Premature Ovarian Failure, X-Linked 57
Fragile X Premature Ovarian Failure 57
Premature Ovarian Failure X-Linked 74
Ovarian Failure, Premature, Type 1 40
Ovarian Failure, Premature; Pof 57
Primary Hypogonadism 72
Turner Syndrome 72
Poi 74

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
premature ovarian failure 1:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:5426
KEGG 37 H00627
MeSH 44 D016649
NCIt 50 C113352
SNOMED-CT 68 39381003 65846009
ICD10 33 E28.3
UMLS 72 C0025322 C0041408 C0085215 more

Summaries for Premature Ovarian Failure 1

MedlinePlus : 43 What is primary ovarian insufficiency (POI)? Primary ovarian insufficiency (POI), also known as premature ovarian failure, happens when a woman's ovaries stop working normally before she is 40. Many women naturally experience reduced fertility when they are about 40 years old. They may start getting irregular menstrual periods as they transition to menopause. For women with POI, irregular periods and reduced fertility start before the age of 40. Sometimes it can start as early as the teenage years. POI 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 POI, some women still have occasional periods. They may even get pregnant. In most cases of POI, the cause is unknown. What causes primary ovarian insufficiency (POI)? In about 90 percent of cases, the exact cause of POI is unknown. Research shows that POI is related to problems with the follicles. Follicles are small sacs in your ovaries. Your eggs grow and mature inside them. One type of follicle problem is that you run out of working follicles earlier than normal. Another is that the follicles are not working properly. In most cases, the cause of the follicle problem is unknown. But sometimes the cause may be Genetic disorders such as Fragile X syndrome and Turner syndrome A low number of follicles Autoimmune diseases, including thyroiditis and Addison disease Chemotherapy or radiation therapy Metabolic disorders Toxins, such as cigarette smoke, chemicals, and pesticides Who is at risk for for primary ovarian insufficiency (POI)? Certain factors can raise a woman's risk of POI: Family history. Women who have a mother or sister with POI are more likely to have it. Genes. Some changes to genes and genetic conditions put women at higher risk for POI. For example, women Fragile X syndrome or Turner syndrome are at higher risk. Certain diseases, such as autoimmune diseases and viral infections Cancer treatments, such as chemotherapy and radiation therapy Age. Younger women can get POI, but it becomes more common between the ages of 35-40. What are the symptoms of primary ovarian insufficiency (POI)? The first sign of POI is usually irregular or missed periods. 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 For many women with POI, trouble getting pregnant or infertility is the reason they go to their health care provider. What other problems can primary ovarian insufficiency (POI) cause? Since POI causes you to have lower levels of certain hormones, you are at greater risk for other health conditions, including Anxiety and depression. Hormonal changes caused by POI can contribute to anxiety or lead to depression. Dry eye syndrome and eye surface disease. Some women with POI have one of these eye conditions. Both can cause discomfort and may lead to blurred vision. If not treated, these conditions can cause permanent eye damage. Heart disease. Lower levels of estrogen can affect the muscles lining the arteries and can increase the buildup of cholesterol in the arteries. These factors increase your risk of atherosclerosis (hardening of the arteries). Infertility. Low thyroid function. This problem also is called hypothyroidism. The thyroid is a gland that makes hormones that control your body's metabolism and energy level. Low levels thyroid hormones can affect your metabolism and can cause very low energy, mental sluggishness, and other symptoms. Osteoporosis. The hormone estrogen helps keep bones strong. Without enough estrogen, women with POI often develop osteoporosis. It is a bone disease that causes weak, brittle bones that are more likely to break. How is primary ovarian insufficiency (POI) diagnosed? To diagnose POI, your health care provider may do A medical history, including asking whether you have relatives with POI A pregnancy test, to make sure that you are not pregnant A physical exam, to look for signs of other disorders which could be causing your symptoms Blood tests, to check for certain hormone levels. You may also have a blood test to do a chromosome analysis. A chromosome is the part of a cell that contains genetic information. A pelvic ultrasound, to see whether or not the ovaries are enlarged or have multiple follicles How is primary ovarian insufficiency (POI) treated? Currently, there is no proven treatment to restore normal function to a woman's ovaries. But there are treatments for some of the symptoms of POI. There are also ways to lower your health risks and treat the conditions that POI can cause: Hormone replacement therapy (HRT). HRT is the most common treatment. It gives your body the estrogen and other hormones that your ovaries are not making. HRT improves sexual health and decreases the risks for heart disease and osteoporosis. You usually take it until about age 50; that's about the age when menopause usually begins. Calcium and vitamin D supplements. Because women with POI are at higher risk for osteoporosis, you should take calcium and vitamin D every day. In vitro fertilization (IVF). If you have POI and you wish to become pregnant, you may consider trying IVF. Regular physical activity and a healthy body weight. Getting regular exercise and controlling your weight can lower your risk for osteoporosis and heart disease. Treatments for associated conditions. If you have a condition that is related to POI, it is important to treat that as well. Treatments may involve medicines and hormones. 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 blepharophimosis, ptosis, and epicanthus inversus and gynecomastia, and has symptoms including pelvic pain An important gene associated with Premature Ovarian Failure 1 is FMR1 (FMRP Translational Regulator 1), and among its related pathways/superpathways are Ovarian steroidogenesis and Metabolism of steroid hormones. The drugs Ethinyl Estradiol and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Umbilical Cord, and related phenotypes are abnormality of metabolism/homeostasis and increased circulating gonadotropin level

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

OMIM : 57 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)

KEGG : 37
Premature ovarian failure (POF) is characterized by amenorrhea before the age of 40 years with elevated levels of gonadotrophin (LH and FSH) and low levels of gonadal hormones (estrogens and inhibins). The causes of POF can be categorized into genetic and environmental mechanisms. X chromosome defects such as Turner syndrome or trisomy X as well as many genes including BMP15 andFMR1 are associated with POF development. For the environmental causes, medical intervention including surgeries and chemotherapies may lead to POF. Autoimmune ovarian failure consists another large category of POF.

UniProtKB/Swiss-Prot : 74 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.

Wikipedia : 75 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
Premature Ovarian Failure 14 Premature Ovarian Failure 15
Acquired Premature Ovarian Failure

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

(show top 50) (show all 450)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis, ptosis, and epicanthus inversus 33.3 FOXL2 BMP15
2 gynecomastia 31.9 SHBG PRL CYP19A1
3 gonadal dysgenesis 31.6 FSHR FOXL2 BMP15
4 amenorrhea 31.5 SHBG PRL GNRH1 FSHR BMP15
5 hypogonadotropism 31.5 PRL GNRH1
6 cryptorchidism, unilateral or bilateral 31.2 SHBG GNRH1 CYP19A1
7 infertility 31.2 PRL INHA GNRH1 GDF9 FSHR DAZL
8 hyperprolactinemia 31.2 SHBG PRL GNRH1
9 46 xy gonadal dysgenesis 31.2 STAR SHBG CYP11A1
10 hypoactive sexual desire disorder 31.1 SHBG CYP19A1
11 granulosa cell tumor of the ovary 31.0 PRL INHA FOXL2
12 androgenic alopecia 31.0 SHBG PRL CYP19A1
13 hyperandrogenism 30.9 SHBG PRL GNRH1 CYP19A1
14 empty sella syndrome 30.9 PRL GNRH1
15 alopecia, androgenetic, 1 30.7 SHBG CYP19A1
16 anovulation 30.7 SHBG PRL GNRH1 FSHR CYP19A1 BMP15
17 polycystic ovary syndrome 30.6 STAR SHBG PRL GNRH1 GDF9 FSHR
18 mammographic density 30.6 PRL CYP19A1
19 ovarian cyst 30.5 PRL FOXL2
20 ovarian disease 30.3 STAR SHBG PRL GNRH1 GDF9 GALT
21 premature ovarian failure 12 12.7
22 premature ovarian failure 13 12.7
23 premature ovarian failure 14 12.7
24 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 12.7
25 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 12.7
26 hypergonadotropic hypogonadism and partial alopecia 12.6
27 cerebellar ataxia and hypergonadotropic hypogonadism 12.6
28 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism 12.6
29 genetic non-acquired premature ovarian failure 12.5
30 acquired premature ovarian failure 12.4
31 non-acquired premature ovarian failure 12.4
32 ovarian dysgenesis 2 12.4
33 rare disorder with hypergonadotropic hypogonadism 12.4
34 leydig cell hypoplasia 12.2
35 leydig cell hypoplasia, type i 12.0
36 marinesco-sjogren syndrome 11.9
37 aromatase deficiency 11.7
38 fmr1-related primary ovarian insufficiency 11.7
39 ovarian dysgenesis 5 11.7
40 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 11.6
41 short stature, microcephaly, and endocrine dysfunction 11.5
42 ovarian dysgenesis 1 11.5
43 premature ovarian failure 2a 11.5
44 premature ovarian failure 2b 11.5
45 premature ovarian failure 5 11.5
46 premature ovarian failure 6 11.5
47 premature ovarian failure 7 11.5
48 retinal dystrophy with or without extraocular anomalies 11.4
49 leukoencephalopathy, progressive, with ovarian failure 11.4
50 hypogonadism-cataract syndrome 11.4

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

Human phenotypes related to Premature Ovarian Failure 1:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 increased circulating gonadotropin level 32 HP:0000837
3 premature ovarian insufficiency 32 HP:0008209
4 menstrual irregularities 32 HP:0000858

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
premature ovarian failure
cessation of menstruation before 40 years of age

Endocrine Features:
premature ovarian failure

Clinical features from OMIM:

311360

UMLS symptoms related to Premature Ovarian Failure 1:


pelvic pain

GenomeRNAi Phenotypes related to Premature Ovarian Failure 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 BMP15 CYP11A1 CYP19A1 DAZL EIF2B2 FMR1
2 Increased ID2::GFP protein expression GR00211-A 8.96 NBN TP63

MGI Mouse Phenotypes related to Premature Ovarian Failure 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.24 BMP15 CYP11A1 CYP19A1 FMR1 FOXL2 FSHR
2 growth/size/body region MP:0005378 10.1 CYP11A1 CYP19A1 FMR1 FOXL2 FSHR GALT
3 homeostasis/metabolism MP:0005376 10.07 CYP11A1 CYP19A1 FOXL2 FSHR GALT GDF9
4 liver/biliary system MP:0005370 9.7 CYP11A1 CYP19A1 GALT GNRH1 INHA MCM9
5 neoplasm MP:0002006 9.5 FSHR GNRH1 INHA MCM9 NBN PRL
6 reproductive system MP:0005389 9.5 BMP15 CYP11A1 CYP19A1 FMR1 FOXL2 FSHR

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 132)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
2
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
3
Norethindrone Approved Phase 4 68-22-4 6230
4
Ganirelix Approved Phase 4 124904-93-4, 123246-29-7 25081094
5
Sargramostim Approved, Investigational Phase 4 83869-56-1, 123774-72-1
6
Lenograstim Approved, Investigational Phase 4 135968-09-1
7
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 54670067 5785
8
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
9 Estrogens, Conjugated (USP) Phase 4
10 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
11 Norinyl Phase 4
12 Norethindrone Acetate Phase 4
13
Testosterone Approved, Experimental, Investigational Phase 3 481-30-1, 58-22-0 6013 10204
14
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
15
Goserelin Approved Phase 3 65807-02-5, 1233494-97-7 47725 5311128
16
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
17
Methyltestosterone Approved Phase 3 58-18-4 6010
18
Testosterone enanthate Approved Phase 3 315-37-7 9416
19
Testosterone undecanoate Approved, Investigational Phase 3 5949-44-0
20
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
21
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
22
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
23
Procarbazine Approved, Investigational Phase 3 671-16-9 4915
24
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
25
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
26
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
27
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
28
Metronidazole Approved Phase 3 443-48-1 4173
29
Desogestrel Approved Phase 3 54024-22-5 40973
30
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
31
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
32
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
33
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
34 Antineoplastic Agents, Hormonal Phase 3
35 glucocorticoids Phase 3
36 Anabolic Agents Phase 3
37 Alkylating Agents Phase 3
38 Immunosuppressive Agents Phase 3
39 Antirheumatic Agents Phase 3
40 Antineoplastic Agents, Alkylating Phase 3
41 Testosterone 17 beta-cypionate Phase 3
42 Analgesics Phase 3
43 Tranquilizing Agents Phase 3
44 Central Nervous System Depressants Phase 3
45 Neurotransmitter Agents Phase 3
46 Anti-Anxiety Agents Phase 3
47 Peripheral Nervous System Agents Phase 3
48 Excitatory Amino Acid Antagonists Phase 3
49 Excitatory Amino Acids Phase 3
50 Psychotropic Drugs Phase 3

Interventional clinical trials:

(show top 50) (show all 232)
# Name Status NCT ID Phase Drugs
1 Effects of Adipose Derived Stem Cell Therapy in Women With Premature Ovarian Failure Unknown status NCT01853501 Phase 4
2 Filgrastim for Treatment of Premature Ovarian Insufficiency: Randomized Clinical Trial Unknown status NCT02783937 Phase 4 Saline
3 Comparison of Standard and Physiologic Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure and the Assessment of Skeletal, Cardiovascular and Reproductive Parameters Completed NCT00732693 Phase 4 Ethinylestradiol / Norethisterone;Estradiol / Progesterone
4 Growth Response in Girls With Turner Syndrome During a Three-year GH Treatment Comparing Two Dose Regimens. Identification of Predictive Factors of Growth Response Completed NCT01734486 Phase 4 somatropin;somatropin
5 Collaborative Study to Assess the Effects of Treatment With Recombinant Growth Hormone Saizen® in the Prevention of Short Stature in Young Girls Suffering From Turner Syndrome Before the Age of 4 Years. Original French Title: Etude Collaborative Pour apprécier Les Effets du Traitement Par l'Hormone de Croissance Recombinante SAIZEN® Dans le Retard de Croissance de la Fillette Atteinte de Syndrome de Turner Avant l'âge de 4 Ans Completed NCT01066052 Phase 4 r-hGH
6 Effect of Early Growth Hormone Treatment on Long-term Growth and Skeletal Maturation in Girls With Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
7 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
8 A Multi-center, Open, Single-arm, Switch-over, Prospective, Phase IV Study to Assess the Ease of Use, Preference, and Safety After 8 Weeks Subcutaneous Administration of EutropinPen Inj. in Patients Pretreated With Recombinant Human Growth Hormone by Reusable Device Completed NCT03015909 Phase 4 Somatropin
9 Assessment of the Ease of Use of Norditropin NordiFlex® Relative to the One of the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
10 The Growth of Genitalia Interna and the Bone Mineralization Under Hormonal Replacement Therapy and the Presence of Aortic Root Dilatation in Girls With Turner Syndrome Completed NCT00134745 Phase 4 estradiol
11 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
12 Dose Response Trial of Biosynthetic Authentic Human Growth Hormone and Induction of Puberty With 17b Oestradiol in Girls With Turner's Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
13 Estrogen Dosing in Turner Syndrome:Pharmacology & Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
14 The Flexible GnRH Antagonist Protocol Provides Better Results (IVF Outcomes) Than 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)
15 Effect Of Hormone Replacement Therapy On Disease Activity, Menopausal Symptoms And Bone Mineral Density In Peri/Postmenopausal Women With Systemic Lupus Erythematosus.Randomized Clinical Trial Completed NCT00392093 Phase 4 Conjugated equine estrogens 0.625 mg/d + MPA 5 mg/d/10d
16 Autologous Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure Patients. Pilot Study ASCOT-2 Not yet recruiting NCT03535480 Phase 4 G-CSF
17 Pilot Study Evaluating the Effects of Estradiol for Hypogonadal Women With Cystic Fibrosis and Osteopenia Withdrawn NCT03724955 Phase 4 Estradiol 2 mg
18 Use of the GnRH Agonist Leuprolide Acetate (Lupron(Registered Trademark)) to Preserve Ovarian Function in Women Undergoing Chemotherapy Withdrawn NCT00507780 Phase 4 GnRH antagonist
19 A Randomized Controlled Trial of Internet-based Cognitive Behavioral Therapy for Breast Cancer Patients With Climacteric Symptoms Unknown status NCT02672189 Phase 3
20 The Effect of Recombinant Human Growth Hormone Treatment on the Growth of Infants and Toddlers With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
21 Induction of Puberty With 17-Beta Estradiol in Girls With Turner Syndrome. An Open Randomized Trial Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
22 Phase III Clinical Trial for Assessment of Efficacy and Safety of DA-3002 (Recombinant Human Growth Hormone) in Patients With Turner's Syndrome Completed NCT01813630 Phase 3 DA-3002;Genotropin®
23 The Use of Norditropin® in Turner's Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
24 Phase IIIB, International, Single Group, Open Study to Define an Optimal Monitoring of IGF-1 in Children Treated With NutropinAq, Using a Novel Capillary Blood Collection Method Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
25 An Open, Multi-Centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin Simplexx™ in Children With GH Deficiency Completed NCT01563926 Phase 3 somatropin
26 Estrogen Replacement in Hypogonadal Girls Treated With GH: Differential Effects of Mode of Estrogen Delivery Completed NCT00140998 Phase 3 17 beta estradiol
27 Humatrope Treatment to Final Height in Turner's Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
28 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG (Recombinant Somatropin) Administered by ZomaJet Vision X Completed NCT00250250 Phase 3 ZOMACTON
29 A Prospective Open Randomized Trial on the Efficacy of Gonadotropin-releasing Hormone Agonist Depot-Triptorelin- to Prevent Chemotherapy Induced Premature Ovarian Failure in Lymphoma Patients. Completed NCT01160315 Phase 2, Phase 3 Triptorelin;Norethisterone acetate
30 Safety and Efficacy of Humatrope in Pediatric Patients With Genetic Short Stature (SHOX Gene Defect) Completed NCT00190658 Phase 3 Somatropin (rDNA origin) for injection
31 Phase III Trial of LHRH Analog Administration During Chemotherapy to Reduce Ovarian Failure Following Chemotherapy in Early Stage, Hormone-Receptor Negative Breast Cancer Completed NCT00068601 Phase 3 cyclophosphamide;goserelin acetate
32 A Two-Arm, Open-Label, Randomized, Multi-Center Pharmacokinetic and Long-Term Safety Study of Intramuscular Injections of 750 mg and 1000 mg Testosterone Undecanoate in Hypogonadal Men Completed NCT00467870 Phase 3 Testosterone Undecanoate 750 mg;Testosterone Undecanoate 1000 mg
33 Ovarian Protection Trial In Premenopausal Breast Cancer Patients [OPTION] Completed NCT00427245 Phase 3 cyclophosphamide;goserelin acetate
34 Randomized Trial of High-Dose IV Cyclophosphamide Versus Monthly IV Cyclophosphamide Completed NCT00005778 Phase 3 High-dose immunoablative therapy
35 An Open-Label, Randomized, Balanced, Single-Dose, Two Treatment, Four Period, Two Sequence Replicate Design, Bioequivalence Study Of Testosterone Topical Gel, 1.62% Metered Pump, Manufactured By Amneal Pharmaceuticals LLC With AndroGel (Testosterone Gel) 1.62% Metered-Dose Pump, Marketed By Abbvie Inc., In Testosterone-Deficient (Hypogonadal) Adult Male Subjects Under Fasting Conditions Completed NCT02110368 Phase 3 Testosterone Topical Gel, 1.62% Metered Pump;AndroGel (testosterone gel) 1.62% Metered-Dose Pump
36 Comparison of Hypnotherapy Versus Gabapentin in the Treatment of Hot Flashes in Breast Cancer Survivors or Women at Risk of Developing Breast Cancer. Completed NCT00711529 Phase 3 gabapentin
37 First International Inter-Group Study for Classical Hodgkin's Lymphoma in Children and Adolescents Completed NCT00433459 Phase 3 cyclophosphamide;dacarbazine;prednisolone;prednisone;procarbazine hydrochloride;vincristine sulfate
38 Estimation of Ovarian Rejuvenation in Women Under Premature Ovarian Failure After Autologous Platelet-rich Plasma Therapy. Recruiting NCT04031456 Phase 2, Phase 3
39 Primary Ovarian Insufficiency: Phenotype and Optimal Treatment Recruiting NCT03568708 Phase 3 Transdermal Estrogen
40 Feasibility and Efficacy of a New Ovarian Stimulation Regimen With RANDom Start, Use of Corifollitropin Alpha and Progestin Protocol for Oocyte donorS Not yet recruiting NCT03895099 Phase 3 Desogestrel early follicular phase;Desogestrel medium follicular phase;Desogestrel ovulatory phase;Desogestrel late follicular phase;Desogestrel luteal phase
41 A Randomized Double Blinded Trail of DHEA Supplementation for Treatment of Couples With Premature Ovarian Failure (POF). Terminated NCT00948857 Phase 2, Phase 3
42 A Randomized Double Blinded Trail of DHEA Supplementation for Treatment of Couples With Normal Hysterosalpingogram and Normal Semen Analysis and Evidence of Premature Ovarian Aging (POA). Terminated NCT00650754 Phase 2, Phase 3
43 Effect of Exercise and Exercise + Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
44 Optimal Hormone Replacement for Women With Premature Ovarian Insufficiency Withdrawn NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
45 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
46 A Phase Ι/Π Study of Human Cord Blood Mononuclear Cells and Human Umbilical Cord Mesenchymal Stem Cells Transplantation Combined With Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
47 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
48 A Phase 2 Study of Pegylated Recombinant Human Growth Hormone Injection to Treat Children of Turner Syndrome Unknown status NCT03189160 Phase 2
49 Evaluate the Safety and Feasibility of Intra-ovarian Injection of Autologous Adipose Derived Mesenchymal Stromal Cells (ADMSC) in Women With Premature Ovarian Failure(POF) Unknown status NCT02603744 Phase 1, Phase 2
50 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Unknown status NCT03033277 Phase 1, Phase 2

Search NIH Clinical Center for Premature Ovarian Failure 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Angelica sinensis preparation
Black Cohosh Extract
Chlorotrianisene
Conjugated estrogens
Estradiol
Estradiol acetate
estradiol cypionate
ESTRADIOL PWDR
estradiol valerate
Estrogens
Estrogens, Conjugated (USP)
Estrogens, esterified
Estrogens, Esterified (USP)
Estrone
estropipate
Ethinyl Estradiol
Fluoxymesterone
Methyltestosterone
polyestradiol
polyestradiol phosphate
Quinestrol
Sodium estrone sulfate
synthetic conjugated estrogens, A
synthetic conjugated estrogens, B
Testosterone
Testosterone cypionate
Testosterone enanthate
Testosterone undecanoate

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 29 FMR1
2 Premature Ovarian Failure 29

Anatomical Context for Premature Ovarian Failure 1

MalaCards organs/tissues related to Premature Ovarian Failure 1:

41
Ovary, Breast, Bone, Testes, Eye, Thyroid, Heart
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 Affected by disease, potential therapeutic candidate
4 Ovary Primary Follicle Primary Oocyte Affected by disease, potential therapeutic candidate
5 Ovary Primordial Follicle Primary Oocyte Affected by disease, potential therapeutic candidate
6 Ovary Antral Follicle Secondary Oocyte Affected by disease, potential therapeutic candidate
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 2325)
# Title Authors PMID Year
1
Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data. 38 8 71
10208170 1999
2
Studies of FRAXA and FRAXE in women with premature ovarian failure. 38 8 71
9719368 1998
3
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. 38 8
17265046 2007
4
Premature ovarian failure in androgen receptor-deficient mice. 38 8
16373508 2006
5
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. 38 8
16078053 2005
6
Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. 38 8
15811012 2005
7
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. 38 8
15280899 2004
8
Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey. 38 8
15054835 2004
9
Dry eye signs and symptoms in women with premature ovarian failure. 38 8
14769589 2004
10
Genes and translocations involved in POF. 38 8
12210333 2002
11
Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. 38 8
11129329 2000
12
Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? 38 8
10848491 2000
13
No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers. 38 8
10848495 2000
14
Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X. 38 8
10848496 2000
15
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. 38 8
10677300 2000
16
Microdeletions in FMR2 may be a significant cause of premature ovarian failure. 38 8
10528856 1999
17
Human leukocyte antigen-DQB1* genotypes encoding aspartate at position 57 are associated with 3beta-hydroxysteroid dehydrogenase autoimmunity in premature ovarian failure. 38 8
10084595 1999
18
A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. 38 8
9853851 1998
19
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. 38 8
9497258 1998
20
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. 38 8
8095365 1993
21
Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. 38 8
3600701 1987
22
Familial premature ovarian failure. 38 8
6517055 1984
23
Evidence for a genetic factor in the etiology of premature ovarian failure. 38 8
6628716 1983
24
Premature ovarian failure. 38 8
6028784 1967
25
Reality of premature ovarian failure in Argentina. 38 17
30994842 2019
26
Genetics of primary ovarian insufficiency. 8
27861765 2017
27
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency. 8
27603904 2016
28
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. 71
25227148 2015
29
Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency. 8
23703681 2014
30
Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors. 71
22797890 2012
31
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. 71
11445641 2001
32
Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern. 8
9254860 1997
33
An analysis of Xq deletions. 8
8786087 1996
34
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 8
8334699 1993
35
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. 71
1605193 1992
36
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. 71
1675488 1991
37
Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present. 8
3471705 1987
38
X long-arm deletions. A review of non-mosaic cases studied with banding techniques. 8
6745919 1984
39
Premature gonadal failure. 8
7141005 1982
40
Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review. 8
7041651 1982
41
Hypergonadotropic hypogonadism in female patients with galactosemia. 8
6782485 1981
42
Three siblings with premature gonadal failure. 8
499583 1979
43
A new syndrome of amenorrhae in association with hypergonadotropism and apparently normal ovarian follicular apparatus. 8
5786709 1969
44
Acupuncture for patients with premature ovarian insufficiency: A systematic review protocol. 17
31045813 2019
45
A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks. 17
31000419 2019
46
Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2. 9 38
19917504 2010
47
Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. 9 38
20364024 2010
48
FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells. 9 38
20207836 2010
49
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 9 38
20425835 2010
50
Premature ovarian failure and FMR1 gene mutations: an update. 9 38
20398889 2010

Variations for Premature Ovarian Failure 1

ClinVar genetic disease variations for Premature Ovarian Failure 1:

6 (show top 50) (show all 360)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EIF2B2 NM_014239.4(EIF2B2): c.818A> G (p.Lys273Arg) single nucleotide variant Pathogenic rs113994016 14:75473404-75473404 14:75006701-75006701
2 FMR1 FMR1, (CGG)n EXPANSION NT expansion Pathogenic
3 SGO2 NM_152524.6(SGO2): c.1451_1452GA[1] (p.Glu485fs) short repeat Pathogenic rs1057519602 2:201436522-201436523 2:200571799-200571800
4 NBN NM_002485.4(NBN): c.871C> T (p.Gln291Ter) single nucleotide variant Pathogenic rs1554563822 8:90982617-90982617 8:89970389-89970389
5 MCM9 NM_017696.2(MCM9): c.1732+2T> C single nucleotide variant Pathogenic rs587777871 6:119149088-119149088 6:118827925-118827925
6 MCM9 NM_017696.2(MCM9): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs587777872 6:119245203-119245203 6:118924038-118924038
7 ALMS1 ; NAT8 GRCh38/hg38 2p13.1(chr2: 73601366-73673202)x1 copy number loss Pathogenic 2:73828493-73900329 2:73601366-73673202
8 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 X:99931059-120328627 :0-0
9 subset of 30 genes:GATA4 GRCh37/hg19 8p23.1(chr8: 8131816-12249050)x1 copy number loss Pathogenic 8:8131816-12249050 :0-0
10 PREPL deletion Pathogenic 2:44504991-44580502 2:44277853-44353364
11 PREPL NM_001171603.1(PREPL): c.881_955delinsTTTTA (p.Lys294fs) indel Pathogenic 2:44566300-44566374 2:44339161-44339235
12 TP63 NM_003722.5(TP63): c.1780C> T (p.Arg594Ter) single nucleotide variant Pathogenic 3:189612028-189612028 3:189894239-189894239
13 TP63 NM_003722.5(TP63): c.1794G> A (p.Trp598Ter) single nucleotide variant Pathogenic 3:189612042-189612042 3:189894253-189894253
14 FMR1 NM_002024.5(FMR1): c.-128_-126GGC(55_200) NT expansion Pathogenic X:146993570-146993572 X:147912052-147912054
15 CYP2E1 ; LOC110599585 ; SYCE1 GRCh38/hg38 10q26.3(chr10: 133443259-133566207)x1 copy number loss Likely pathogenic 10:135256762-135379710 10:133443259-133566207
16 covers 13 genes, none of which curated to show dosage sensitivity GRCh37/hg19 15q25.2(chr15: 83213963-84811815)x1 copy number loss Likely pathogenic 15:83213963-84811815 :0-0
17 STAG3 NM_001282716.1(STAG3): c.2776C> T (p.Arg926Ter) single nucleotide variant Likely pathogenic rs764841861 7:99801719-99801719 7:100204096-100204096
18 POF1B NM_024921.4(POF1B): c.986G> A (p.Arg329Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs75398746 X:84563194-84563194 X:85308188-85308188
19 LHCGR NM_000233.4(LHCGR): c.458+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs76210637 2:48950758-48950758 2:48723619-48723619
20 NEK8 NM_178170.3(NEK8): c.1795C> T (p.Arg599Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs375661404 17:27068158-27068158 17:28741140-28741140
21 FANCL NM_018062.3(FANCL): c.1007_1009del (p.Ile336_Cys337delinsSer) deletion Conflicting interpretations of pathogenicity rs747253294 2:58388668-58388670 2:58161533-58161535
22 LHCGR NM_000233.4(LHCGR): c.1360G> A (p.Val454Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs114320052 2:48915576-48915576 2:48688437-48688437
23 NOBOX NM_001080413.3(NOBOX): c.362C> T (p.Pro121Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs187273709 7:144098621-144098621 7:144401528-144401528
24 NOBOX NM_001080413.3(NOBOX): c.362C> G (p.Pro121Arg) single nucleotide variant Uncertain significance rs187273709 7:144098621-144098621 7:144401528-144401528
25 NOBOX NM_001080413.3(NOBOX): c.1774+11G> A single nucleotide variant Uncertain significance rs749434230 7:144095364-144095364 7:144398271-144398271
26 NOBOX NM_001080413.3(NOBOX): c.1751T> G (p.Met584Arg) single nucleotide variant Uncertain significance rs886062038 7:144095398-144095398 7:144398305-144398305
27 NOBOX NM_001080413.3(NOBOX): c.1031G> A (p.Arg344His) single nucleotide variant Uncertain significance rs533330364 7:144097219-144097219 7:144400126-144400126
28 NOBOX NM_001080413.3(NOBOX): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance rs762139523 7:144098304-144098304 7:144401211-144401211
29 NOBOX NM_001080413.3(NOBOX): c.1322C> G (p.Pro441Arg) single nucleotide variant Uncertain significance rs767702371 7:144096190-144096190 7:144399097-144399097
30 NOBOX NM_001080413.3(NOBOX): c.211-4G> C single nucleotide variant Uncertain significance rs375312683 7:144099047-144099047 7:144401954-144401954
31 NOBOX NM_001080413.3(NOBOX): c.130C> T (p.Arg44Trp) single nucleotide variant Uncertain significance rs531700272 7:144101729-144101729 7:144404636-144404636
32 FIGLA NM_001004311.3(FIGLA): c.384+11A> G single nucleotide variant Uncertain significance rs886056271 2:71014770-71014770 2:70787638-70787638
33 NOBOX NM_001080413.3(NOBOX): c.1900C> A (p.Pro634Thr) single nucleotide variant Uncertain significance rs886062037 7:144094509-144094509 7:144397416-144397416
34 LHCGR NM_000233.4(LHCGR): c.384-15T> C single nucleotide variant Uncertain significance rs753540458 2:48950850-48950850 2:48723711-48723711
35 LHCGR NM_000233.4(LHCGR): c.54G> A (p.Gln18=) single nucleotide variant Uncertain significance rs780848944 2:48982757-48982757 2:48755618-48755618
36 LHCGR NM_001198593.1(STON1-GTF2A1L): c.3441+15717A> T single nucleotide variant Uncertain significance rs771456886 2:48914536-48914536 2:48687397-48687397
37 FIGLA NM_001004311.3(FIGLA): c.443C> T (p.Ser148Leu) single nucleotide variant Uncertain significance rs200500974 2:71012713-71012713 2:70785581-70785581
38 FIGLA NM_001004311.3(FIGLA): c.248G> A (p.Arg83His) single nucleotide variant Uncertain significance rs199702150 2:71014917-71014917 2:70787785-70787785
39 FIGLA NM_001004311.3(FIGLA): c.154G> A (p.Gly52Ser) single nucleotide variant Uncertain significance rs554656682 2:71017617-71017617 2:70790485-70790485
40 NOBOX NM_001080413.3(NOBOX): c.1938A> G (p.Ser646=) single nucleotide variant Uncertain significance rs116937127 7:144094471-144094471 7:144397378-144397378
41 FIGLA NM_001004311.3(FIGLA): c.*5_*7delinsAGG indel Uncertain significance rs386647171 2:71004492-71004494 2:70777360-70777362
42 RAD50 NM_005732.4(RAD50): c.3907A> G (p.Ser1303Gly) single nucleotide variant Uncertain significance rs876659120 5:131978024-131978024 5:132642332-132642332
43 FIGLA NM_001004311.3(FIGLA): c.566G> A (p.Ser189Asn) single nucleotide variant Uncertain significance rs201941812 2:71012590-71012590 2:70785458-70785458
44 LHCGR NM_001198593.1(STON1-GTF2A1L): c.3441+15293A> G single nucleotide variant Uncertain significance rs886056145 2:48914112-48914112 2:48686973-48686973
45 LHCGR NM_001198593.1(STON1-GTF2A1L): c.3441+15744A> G single nucleotide variant Uncertain significance rs886056146 2:48914563-48914563 2:48687424-48687424
46 LHCGR NM_000233.4(LHCGR): c.811G> A (p.Ala271Thr) single nucleotide variant Uncertain significance rs886056147 2:48925809-48925809 2:48698670-48698670
47 SPATA4 ; WDR17 GRCh38/hg38 4q34.2(chr4: 176084892-176188175)x1 copy number loss Uncertain significance 4:177006043-177109326 4:176084892-176188175
48 RAD51C NM_058216.3(RAD51C): c.431T> C (p.Ile144Thr) single nucleotide variant Uncertain significance rs28363307 17:56774080-56774080 17:58696719-58696719
49 LHCGR NM_001198593.1(STON1-GTF2A1L): c.3441+15634G> T single nucleotide variant Uncertain significance rs777978092 2:48914453-48914453 2:48687314-48687314
50 CGNL1 GRCh38/hg38 15q21.3(chr15: 57374829-57442092)x1 copy number loss Uncertain significance 15:57667027-57734290 15:57374829-57442092

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:

37
# Name Kegg Source Accession
1 Ovarian steroidogenesis hsa04913

GO Terms for Premature Ovarian Failure 1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.88 TP63 INHA GDF9 BMP15
2 male gonad development GO:0008584 9.76 STAR INHA FSHR
3 steroid biosynthetic process GO:0006694 9.7 STAR CYP19A1 CYP11A1
4 cell development GO:0048468 9.69 INHA GDF9 BMP15
5 SMAD protein signal transduction GO:0060395 9.67 INHA GDF9 BMP15
6 response to peptide hormone GO:0043434 9.65 STAR GNRH1 EIF2B2
7 response to organic cyclic compound GO:0014070 9.6 STAR GNRH1
8 response to ethanol GO:0045471 9.59 STAR GNRH1
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.58 INHA GDF9 BMP15
10 estrogen biosynthetic process GO:0006703 9.57 STAR CYP19A1
11 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.56 STAR FSHR
12 C21-steroid hormone biosynthetic process GO:0006700 9.55 STAR CYP11A1
13 female gonad development GO:0008585 9.5 FSHR FOXL2 CYP19A1
14 testosterone biosynthetic process GO:0061370 9.46 STAR CYP19A1
15 regulation of MAPK cascade GO:0043408 9.46 INHA GDF9 FSHR BMP15
16 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.43 INHA FOXL2
17 uterus development GO:0060065 9.43 FSHR FOXL2 CYP19A1
18 oocyte growth GO:0001555 9.37 GDF9 FOXL2
19 ovarian follicle development GO:0001541 9.26 INHA FOXL2 EIF2B2 BMP15
20 ovulation cycle GO:0042698 9.24 GNRH1
21 female gamete generation GO:0007292 8.92 MCM9 GDF9 FSHR BMP15

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 PRL INHA GNRH1
2 transforming growth factor beta receptor binding GO:0005160 8.8 INHA GDF9 BMP15
3 protein binding GO:0005515 10.06 TP63 STAR SHBG SGO2 PRL PREPL

Sources for Premature Ovarian Failure 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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