POF1
MCID: PRM196
MIFTS: 68

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 56 52 25 73 29 13 6 37
Premature Ovarian Failure 12 74 36 29 6 15
Primary Ovarian Insufficiency 12 73 42 43 17
Hypergonadotropic Hypogonadism 12 54 6
Ovarian Failure, Premature 56 39 71
Primary Ovarian Insufficiency, Fragile X-Associated 56 71
Fragile X-Associated Primary Ovarian Insufficiency 52 25
Hypergonadotropic Ovarian Failure, X-Linked 56 71
Fmr1-Related Primary Ovarian Insufficiency 52 25
Premature Ovarian Insufficiency 12 6
Ovarian Failure Premature 73 54
Premature Menopause 12 71
Pof1 56 73
Pofx 56 73
Pof 56 73
Idiopathic Familial Premature Ovarian Failure 52
X-Linked Hypergonadotropic Ovarian Failure 25
Hypergonadotropic Ovarian Failure X-Linked 73
Premature Ovarian Failure, X-Linked; Pofx 56
Fmr1-Related Premature Ovarian Failure 52
Premature Ovarian Failure, X-Linked 56
Fragile X Premature Ovarian Failure 56
Familial Premature Ovarian Failure 52
Premature Ovarian Failure X-Linked 73
Ovarian Failure, Premature, Type 1 39
Ovarian Failure, Premature; Pof 56
Primary Hypogonadism 71
Turner Syndrome 71
Fxpoi 25
Poi 73

Characteristics:

OMIM:

56
Inheritance:
x-linked


HPO:

31
premature ovarian failure 1:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:5426
OMIM 56 311360
OMIM Phenotypic Series 56 PS311360
KEGG 36 H00627
MeSH 43 D016649
NCIt 49 C113352
SNOMED-CT 67 39381003 65846009
ICD10 32 E28.3
SNOMED-CT via HPO 68 263934009 373717006 80182007
UMLS 71 C0025322 C0041408 C0085215 more

Summaries for Premature Ovarian Failure 1

MedlinePlus : 42 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 aromatase deficiency 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 Ovarian Infertility Genes. The drugs Ethinyl Estradiol and Norethindrone 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.

Genetics Home Reference : 25 Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems. The severity of FXPOI is variable. The most severely affected women have overt POI (formerly called premature ovarian failure). These women have irregular or absent menstrual periods and elevated FSH levels before age 40. Overt POI often causes infertility. Other women have occult POI; they have normal menstrual periods but reduced fertility, and they may have elevated levels of FSH (in which case, it is called biochemical POI). The reduction in ovarian function caused by FXPOI results in low levels of the hormone estrogen, which leads to many of the common signs and symptoms of menopause, such as hot flashes, insomnia, and thinning of the bones (osteoporosis). Women with FXPOI undergo menopause an average of 5 years earlier than women without the condition.

OMIM : 56 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 : 36 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 : 73 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 : 74 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
Premature Ovarian Failure 16 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 461)
# Related Disease Score Top Affiliating Genes
1 aromatase deficiency 32.8 GNRH1 CYP19A1
2 gynecomastia 31.8 SHBG PRL INHA GNRH1 CYP19A1
3 hypogonadotropic hypogonadism 31.8 SHBG PRL GNRH1 CYP19A1
4 amenorrhea 31.7 SHBG PRL NOBOX GNRH1 GDF9 FSHR
5 infertility 31.6 SHBG PRL INHA GNRH1 GDF9 FSHR
6 premature menopause 31.6 NOBOX GNRH1 GDF9 FSHR FOXL2 FMR1
7 gonadal dysgenesis 31.5 SHBG GDF9 FSHR FOXL2 BMP15
8 impotence 31.5 SHBG PRL GNRH1
9 turner syndrome 31.4 SHBG PRL FMR1 BMP15
10 hypogonadism 31.4 SHBG PRL GNRH1 CYP19A1
11 ovarian cyst 31.3 PRL GNRH1 FOXL2 CYP19A1
12 cryptorchidism, unilateral or bilateral 31.3 SHBG PRL GNRH1 FSHR DAZL CYP19A1
13 hypogonadotropism 31.3 PRL GNRH1
14 polycystic ovary syndrome 31.2 SHBG PRL GNRH1 GDF9 FSHR CYP19A1
15 hyperprolactinemia 31.1 SHBG PRL GNRH1
16 46 xx gonadal dysgenesis 31.0 NOBOX GDF9 FSHR FOXL2 BMP15
17 anovulation 31.0 SHBG PRL GNRH1 FSHR CYP19A1 BMP15
18 alopecia 31.0 TP63 SHBG PRL
19 hypoactive sexual desire disorder 31.0 SHBG CYP19A1
20 hyperandrogenism 31.0 SHBG PRL GNRH1 CYP19A1
21 sexual disorder 30.9 SHBG PRL GNRH1
22 granulosa cell tumor of the ovary 30.9 PRL INHA FOXL2
23 mammographic density 30.9 PRL CYP19A1
24 androgenic alopecia 30.9 SHBG PRL CYP19A1
25 ovarian disease 30.9 SHBG PRL NOBOX INHA GNRH1 GDF9
26 perrault syndrome 30.8 SGO2 FOXL2 EIF2B2
27 alopecia, androgenetic, 1 30.8 SHBG CYP19A1
28 mayer-rokitansky-kuster-hauser syndrome 30.7 TP63 GALT
29 premature ovarian failure 12 12.7
30 premature ovarian failure 13 12.7
31 premature ovarian failure 14 12.7
32 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 12.7
33 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 12.7
34 hypergonadotropic hypogonadism and partial alopecia 12.6
35 cerebellar ataxia and hypergonadotropic hypogonadism 12.6
36 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism 12.6
37 premature ovarian failure 16 12.5
38 genetic non-acquired premature ovarian failure 12.5
39 acquired premature ovarian failure 12.4
40 non-acquired premature ovarian failure 12.4
41 rare disorder with hypergonadotropic hypogonadism 12.4
42 leydig cell hypoplasia 12.2
43 ovarian dysgenesis 2 12.1
44 leydig cell hypoplasia, type i 12.0
45 hypogonadism-cataract syndrome 12.0
46 marinesco-sjogren syndrome 11.9
47 blepharophimosis, ptosis, and epicanthus inversus 11.8
48 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 11.7
49 ovarian dysgenesis 5 11.7
50 fmr1 disorders 11.6

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:

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

Symptoms via clinical synopsis from OMIM:

56
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 Increased ID2::GFP protein expression GR00211-A 8.62 NBN TP63

MGI Mouse Phenotypes related to Premature Ovarian Failure 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.1 BMP15 CYP19A1 FMR1 FOXL2 FSHR GALT
2 homeostasis/metabolism MP:0005376 9.93 CYP19A1 FOXL2 FSHR GALT GDF9 GNRH1
3 neoplasm MP:0002006 9.5 FSHR GNRH1 INHA MCM9 NBN PRL
4 reproductive system MP:0005389 9.47 BMP15 CYP19A1 FMR1 FOXL2 FSHR GALT

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
Norethindrone Approved Phase 4 68-22-4 6230
3
Ganirelix Approved Phase 4 124904-93-4, 123246-29-7 25081094
4
Sargramostim Approved, Investigational Phase 4 123774-72-1, 83869-56-1
5
Lenograstim Approved, Investigational Phase 4 135968-09-1
6
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
7
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
8 Estrogens, Conjugated (USP) Phase 4
9 Norethindrone Acetate Phase 4
10 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
11 Norinyl Phase 4
12
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
13
Oxandrolone Approved, Investigational Phase 3 53-39-4 5878
14
Methyltestosterone Approved Phase 3 58-18-4 6010
15
Testosterone Approved, Experimental, Investigational Phase 3 58-22-0, 481-30-1 6013 10204
16
Testosterone undecanoate Approved, Investigational Phase 3 5949-44-0
17
Testosterone enanthate Approved Phase 3 315-37-7 9416
18
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
19
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
20
Goserelin Approved Phase 3 65807-02-5, 1233494-97-7 47725 5311128
21
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
22
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
23
Procarbazine Approved, Investigational Phase 3 671-16-9 4915
24 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
25
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
26
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
27
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
28
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
29
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
30
Metronidazole Approved Phase 3 443-48-1 4173
31
Desogestrel Approved Phase 3 54024-22-5 40973
32
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
33
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
34
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
35
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
36
Black cohosh Experimental Phase 3
37 Antineoplastic Agents, Hormonal Phase 3
38 Trace Elements Phase 3
39 Micronutrients Phase 3
40 Antioxidants Phase 3
41 Anabolic Agents Phase 3
42 Nutrients Phase 3
43 Testosterone 17 beta-cypionate Phase 3
44 Protective Agents Phase 3
45 Vitamins Phase 3
46 glucocorticoids Phase 3
47 Alkylating Agents Phase 3
48 Antirheumatic Agents Phase 3
49 Immunosuppressive Agents Phase 3
50 Methylprednisolone Acetate Phase 3

Interventional clinical trials:

(show top 50) (show all 241)
# 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 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
10 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
11 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
12 Estrogen Dosing in Turner Syndrome:Pharmacology & Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
13 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
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 The Effect of Recombinant Human Growth Hormone Treatment on the Growth of Infants and Toddlers With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
20 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
21 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®
22 The Use of Norditropin® in Turner's Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
23 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)
24 The Effects of Androgen, Estrogen, and the Combination of Androgen and Estrogen on Growth Rate and Cognitive Function of Growth Hormone-treated Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
25 Estrogen Replacement in Hypogonadal Girls Treated With GH: Differential Effects of Mode of Estrogen Delivery Completed NCT00140998 Phase 3 17 beta estradiol
26 Humatrope Treatment to Final Height in Turner's Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
27 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
28 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
29 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
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 A Randomized Controlled Trial of Internet-based Cognitive Behavioral Therapy for Breast Cancer Patients With Climacteric Symptoms Completed NCT02672189 Phase 3
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 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
39 Estimation of Ovarian Rejuvenation in Women Under Premature Ovarian Failure After Autologous Platelet-rich Plasma Therapy. Recruiting NCT04031456 Phase 2, Phase 3
40 Primary Ovarian Insufficiency: Phenotype and Optimal Treatment Recruiting NCT03568708 Phase 3 Transdermal Estrogen
41 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
42 A Randomized Double Blinded Trail of DHEA Supplementation for Treatment of Couples With Premature Ovarian Failure (POF). Terminated NCT00948857 Phase 2, Phase 3
43 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
44 Effect of Exercise and Exercise + Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
45 Optimal Hormone Replacement for Women With Premature Ovarian Insufficiency Withdrawn NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
46 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
47 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
48 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
49 A Phase 2 Study of Pegylated Recombinant Human Growth Hormone Injection to Treat Children of Turner Syndrome Unknown status NCT03189160 Phase 2
50 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

Search NIH Clinical Center for Premature Ovarian Failure 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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

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:

40
Ovary, Bone, Breast, Testes, Thyroid, Eye, 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 2376)
# 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. 61 56 6
10208170 1999
2
Studies of FRAXA and FRAXE in women with premature ovarian failure. 61 56 6
9719368 1998
3
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. 61 56
17265046 2007
4
Premature ovarian failure in androgen receptor-deficient mice. 61 56
16373508 2006
5
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. 61 56
16078053 2005
6
Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. 61 56
15811012 2005
7
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. 61 56
15280899 2004
8
Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey. 61 56
15054835 2004
9
Dry eye signs and symptoms in women with premature ovarian failure. 61 56
14769589 2004
10
Genes and translocations involved in POF. 61 56
12210333 2002
11
Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. 61 56
11129329 2000
12
Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? 61 56
10848491 2000
13
No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers. 61 56
10848495 2000
14
Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X. 61 56
10848496 2000
15
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. 61 56
10677300 2000
16
Microdeletions in FMR2 may be a significant cause of premature ovarian failure. 61 56
10528856 1999
17
Human leukocyte antigen-DQB1* genotypes encoding aspartate at position 57 are associated with 3beta-hydroxysteroid dehydrogenase autoimmunity in premature ovarian failure. 61 56
10084595 1999
18
A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. 61 56
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. 61 56
9497258 1998
20
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. 61 56
8095365 1993
21
Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. 61 56
3600701 1987
22
Familial premature ovarian failure. 61 56
6517055 1984
23
Evidence for a genetic factor in the etiology of premature ovarian failure. 61 56
6628716 1983
24
Premature ovarian failure. 61 56
6028784 1967
25
Genetics of primary ovarian insufficiency. 56
27861765 2017
26
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency. 56
27603904 2016
27
EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders. 6
25227148 2015
28
Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency. 56
23703681 2014
29
Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors. 6
22797890 2012
30
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. 6
11445641 2001
31
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. 56
9254860 1997
32
An analysis of Xq deletions. 56
8786087 1996
33
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 56
8334699 1993
34
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. 6
1605193 1992
35
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. 6
1675488 1991
36
Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present. 56
3471705 1987
37
X long-arm deletions. A review of non-mosaic cases studied with banding techniques. 56
6745919 1984
38
Premature gonadal failure. 56
7141005 1982
39
Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review. 56
7041651 1982
40
Hypergonadotropic hypogonadism in female patients with galactosemia. 56
6782485 1981
41
Three siblings with premature gonadal failure. 56
499583 1979
42
A new syndrome of amenorrhae in association with hypergonadotropism and apparently normal ovarian follicular apparatus. 56
5786709 1969
43
Novel STAG3 mutations in a Caucasian family with primary ovarian insufficiency. 42
31363903 2019
44
Korean medicines for poor ovarian reserve in infertility: A protocol for a multicenter observational study. 42
31689817 2019
45
Mitochondrial Dysfunction in Primary Ovarian Insufficiency. 42
31393557 2019
46
Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2. 54 61
19917504 2010
47
Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. 54 61
20364024 2010
48
FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells. 54 61
20207836 2010
49
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 54 61
20425835 2010
50
Premature ovarian failure and FMR1 gene mutations: an update. 54 61
20398889 2010

Variations for Premature Ovarian Failure 1

ClinVar genetic disease variations for Premature Ovarian Failure 1:

6 (show top 50) (show all 362) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MCM9 NM_017696.2(MCM9):c.1732+2T>CSNV Pathogenic 156587 rs587777871 6:119149088-119149088 6:118827925-118827925
2 MCM9 NM_017696.2(MCM9):c.394C>T (p.Arg132Ter)SNV Pathogenic 156588 rs587777872 6:119245203-119245203 6:118924038-118924038
3 ALMS1 , NAT8 GRCh38/hg38 2p13.1(chr2:73601366-73673202)x1copy number loss Pathogenic 221691 2:73828493-73900329 2:73601366-73673202
4 subset of 30 genes: GATA4 GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1copy number loss Pathogenic 221719 8:8131816-12249050
5 subset of 159 genes: ACSL4 , BTK , CHRDL1 , COL4A5 , CUL4B , DCX , GLA , LAMP2 , NXF5 , PAK3 , PLP1 , PRPS1 , TIMM8A , UBE2A , UPF3B GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1copy number loss Pathogenic 221776 X:99931059-120328627
6 FMR1 FMR1, (CGG)n REPEAT EXPANSIONNT expansion Pathogenic 9972
7 EIF2B2 NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg)SNV Pathogenic 495050 rs113994016 14:75473404-75473404 14:75006701-75006701
8 SGO2 NM_152524.6(SGO2):c.1451_1452GA[1] (p.Glu485fs)short repeat Pathogenic 375672 rs1057519602 2:201436519-201436520 2:200571796-200571797
9 NBN NM_002485.4(NBN):c.871C>T (p.Gln291Ter)SNV Pathogenic 495048 rs1554563822 8:90982617-90982617 8:89970389-89970389
10 PREPL deletion Pathogenic 619047 2:44504991-44580502 2:44277853-44353364
11 PREPL NM_001171603.1(PREPL):c.881_955delinsTTTTA (p.Lys294fs)indel Pathogenic 619046 rs1558502635 2:44566300-44566374 2:44339161-44339235
12 TP63 NM_003722.5(TP63):c.1780C>T (p.Arg594Ter)SNV Pathogenic 619065 rs900140738 3:189612028-189612028 3:189894239-189894239
13 TP63 NM_003722.5(TP63):c.1794G>A (p.Trp598Ter)SNV Pathogenic 619066 rs1560311010 3:189612042-189612042 3:189894253-189894253
14 FMR1 NM_002024.5(FMR1):c.-128_-126GGC(55_200)NT expansion Pathogenic 623467 X:146993570-146993572 X:147912052-147912054
15 subset of 224 genes: ABCD1 , AFF2 , AVPR2 , CCNQ , DKC1 , F8 , F9 , FLNA , FMR1 , FRMD7 , GDI1 , GPC3 , HPRT1 , IDS , IKBKG , L1CAM , MECP2 , MTM1 , NSDHL , OCRL , PHF6 , RAB39B , SH2D1A , SLC6A8 , SLC9A6 , SOX3 , TMLHE , XIAP , ZDHHC9 , ZIC3 GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1copy number loss Likely pathogenic 625854 X:122757437-155208244
16 STAG3 NM_001282716.1(STAG3):c.2776C>T (p.Arg926Ter)SNV Likely pathogenic 374000 rs764841861 7:99801719-99801719 7:100204096-100204096
17 covers 13 genes, none of which curated to show dosage sensitivity GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1copy number loss Likely pathogenic 221753 15:83213963-84811815
18 CYP2E1 , LOC110599585 , SYCE1 GRCh38/hg38 10q26.3(chr10:133443259-133566207)x1copy number loss Likely pathogenic 221737 10:135256762-135379710 10:133443259-133566207
19 NOBOX NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu)SNV Conflicting interpretations of pathogenicity 359148 rs187273709 7:144098621-144098621 7:144401528-144401528
20 LHCGR NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile)SNV Conflicting interpretations of pathogenicity 336461 rs114320052 2:48915576-48915576 2:48688437-48688437
21 POF1B NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)SNV Conflicting interpretations of pathogenicity 10794 rs75398746 X:84563194-84563194 X:85308188-85308188
22 LHCGR NM_000233.4(LHCGR):c.458+3A>GSNV Conflicting interpretations of pathogenicity 36469 rs76210637 2:48950758-48950758 2:48723619-48723619
23 NEK8 NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)SNV Conflicting interpretations of pathogenicity 65408 rs375661404 17:27068158-27068158 17:28741140-28741140
24 FANCL NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer)deletion Conflicting interpretations of pathogenicity 241247 rs747253294 2:58388668-58388670 2:58161533-58161535
25 LHCGR NM_000233.4(LHCGR):c.*383C>ASNV Uncertain significance 336449 rs777978092 2:48914453-48914453 2:48687314-48687314
26 RAD50 NM_005732.4(RAD50):c.2177G>A (p.Arg726His)SNV Uncertain significance 128001 rs28903092 5:131931472-131931472 5:132595780-132595780
27 RAD50 NM_005732.4(RAD50):c.3907A>G (p.Ser1303Gly)SNV Uncertain significance 231372 rs876659120 5:131978024-131978024 5:132642332-132642332
28 MRE11 NM_005591.3(MRE11):c.305G>T (p.Gly102Val)SNV Uncertain significance 141414 rs199736271 11:94219099-94219099 11:94485933-94485933
29 RAD51C NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)SNV Uncertain significance 142840 rs28363307 17:56774080-56774080 17:58696719-58696719
30 ERCC4 GRCh37/hg19 16p13.12(chr16:13889247-14163635)x3copy number gain Uncertain significance 221874 16:13889247-14163635
31 subset of 11 genes: PRRT2 GRCh37/hg19 16p11.2(chr16:29779861-29980031)x3copy number gain Uncertain significance 221875 16:29779861-29980031
32 subset of 15 genes: HNF1B GRCh37/hg19 17q12(chr17:34815551-36220373)x3copy number gain Uncertain significance 221877 17:34815551-36220373
33 APP , CYYR1 GRCh37/hg19 21q21.3(chr21:27502468-27849346)x3copy number gain Uncertain significance 221889 21:27502468-27849346
34 PNPLA4 , PUDP , STS , VCX GRCh37/hg19 Xp22.31(chrX:6516735-8135053)x3copy number gain Uncertain significance 221896 X:6516735-8135053
35 C1QTNF6 , IL2RB , SSTR3 , TMPRSS6 GRCh37/hg19 22q12.3-13.1(chr22:37485062-37618530)x3copy number gain Uncertain significance 221894 22:37485062-37618530
36 AR , OPHN1 GRCh37/hg19 Xq12(chrX:66905875-67475065)x3copy number gain Uncertain significance 221900 X:66905875-67475065
37 SEMA5A , TAS2R1 GRCh37/hg19 5p15.31-15.2(chr5:9529809-9990381)x3copy number gain Uncertain significance 221809 5:9529809-9990381
38 DNAH11 , SP4 GRCh37/hg19 7p15.3(chr7:21483605-21589243)x3copy number gain Uncertain significance 221822 7:21483605-21589243
39 GPR141 GRCh37/hg19 7p14.1(chr7:37741319-37885121)x3copy number gain Uncertain significance 221824 7:37741319-37885121
40 SCARB1 GRCh37/hg19 12q24.31(chr12:125260645-125321461)x3copy number gain Uncertain significance 221855 12:125260645-125321461
41 RAB19 , SLC37A3 GRCh37/hg19 7q34(chr7:140070378-140129626)x3copy number gain Uncertain significance 221830 7:140070378-140129626
42 CHST11 GRCh37/hg19 12q23.3(chr12:104908843-105074764)x3copy number gain Uncertain significance 221853 12:104908843-105074764
43 EFL1 , SAXO2 GRCh37/hg19 15q25.2(chr15:82429837-82691453)x3copy number gain Uncertain significance 221870 15:82429837-82691453
44 PPP4R1 , RALBP1 GRCh37/hg19 18p11.22(chr18:9450518-9547947)x3copy number gain Uncertain significance 221880 18:9450518-9547947
45 LHCGR NM_000233.4(LHCGR):c.384-15T>CSNV Uncertain significance 336467 rs753540458 2:48950850-48950850 2:48723711-48723711
46 LHCGR NM_000233.4(LHCGR):c.54G>A (p.Gln18=)SNV Uncertain significance 336472 rs780848944 2:48982757-48982757 2:48755618-48755618
47 LHCGR NM_000233.4(LHCGR):c.*300T>ASNV Uncertain significance 336451 rs771456886 2:48914536-48914536 2:48687397-48687397
48 FIGLA NM_001004311.3(FIGLA):c.443C>T (p.Ser148Leu)SNV Uncertain significance 336908 rs200500974 2:71012713-71012713 2:70785581-70785581
49 FIGLA NM_001004311.3(FIGLA):c.248G>A (p.Arg83His)SNV Uncertain significance 336911 rs199702150 2:71014917-71014917 2:70787785-70787785
50 FIGLA NM_001004311.3(FIGLA):c.154G>A (p.Gly52Ser)SNV Uncertain significance 336913 rs554656682 2:71017617-71017617 2:70790485-70790485

Copy number variations for Premature Ovarian Failure 1 from CNVD:

7
# CNVD ID Chromosome 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 Ovarian steroidogenesis hsa04913

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

# Super pathways Score Top Affiliating Genes
1 10.82 FSHR CYP19A1 BMP15
2 10.53 INHA GDF9 FSHR DAZL CYP19A1
3 10.51 SHBG GNRH1
4 10.27 GNRH1 FSHR

GO Terms for Premature Ovarian Failure 1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.8 TP63 INHA GDF9 BMP15
2 SMAD protein signal transduction GO:0060395 9.65 INHA GDF9 BMP15
3 cell development GO:0048468 9.63 INHA GDF9 BMP15
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.58 INHA GDF9 BMP15
5 female gonad development GO:0008585 9.5 FSHR FOXL2 CYP19A1
6 regulation of MAPK cascade GO:0043408 9.46 INHA GDF9 FSHR BMP15
7 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.43 INHA FOXL2
8 uterus development GO:0060065 9.43 FSHR FOXL2 CYP19A1
9 oocyte growth GO:0001555 9.37 GDF9 FOXL2
10 ovarian follicle development GO:0001541 9.26 INHA FOXL2 EIF2B2 BMP15
11 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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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