POF1
MCID: PRM196
MIFTS: 69

Premature Ovarian Failure 1 (POF1)

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

Aliases & Classifications for Premature Ovarian Failure 1

MalaCards integrated aliases for Premature Ovarian Failure 1:

Name: Premature Ovarian Failure 1 57 75 29 13 6 38
Premature Ovarian Failure 38 12 76 37 29 13 6 15
Hypergonadotropic Hypogonadism 12 29 55 6
Primary Ovarian Insufficiency 12 75 43 44
Ovarian Failure, Premature 57 40 73
Primary Ovarian Insufficiency, Fragile X-Associated 57 73
Hypergonadotropic Ovarian Failure, X-Linked 57 73
Premature Ovarian Insufficiency 12 6
Ovarian Failure Premature 75 55
Premature Menopause 12 73
Pof1 57 75
Pofx 57 75
Pof 57 75
Hypergonadotropic Ovarian Failure X-Linked 75
Premature Ovarian Failure, X-Linked; Pofx 57
Premature Ovarian Failure, X-Linked 57
Fragile X Premature Ovarian Failure 57
Premature Ovarian Failure X-Linked 75
Ovarian Failure, Premature, Type 1 40
Ovarian Failure, Premature; Pof 57
Hypogonadism, Hypergonadotropic 13
Primary Hypogonadism 73
Turner Syndrome 73
Poi 75

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
premature ovarian failure 1:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 311360
Disease Ontology 12 DOID:5426
ICD10 33 E28.3
MeSH 44 D016649
NCIt 50 C113352
SNOMED-CT 68 39381003 65846009
KEGG 37 H00627
SNOMED-CT via HPO 69 80182007 263934009 373717006

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 are the risk factors 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 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 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 hypogonadotropism, and has symptoms including pelvic pain An important gene associated with Premature Ovarian Failure 1 is FMR1 (Fragile X Mental Retardation 1), and among its related pathways/superpathways are Calcium signaling pathway and Neuroactive ligand-receptor interaction. The drugs Hormones, Hormone Substitutes, and Hormone Antagonists and Hormones 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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

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

(show top 50) (show all 231)
# Related Disease Score Top Affiliating Genes
1 blepharophimosis, ptosis, and epicanthus inversus 32.2 BMP15 FOXL2 FOXP2
2 hypogonadotropism 30.8 GNRH1 PRL
3 amenorrhea 30.6 BMP15 FSHR GNRH1 PRL SHBG
4 infertility 30.6 CYP19A1 DAZL FSHR GDF9 GNRH1 INHA
5 gonadal dysgenesis 30.4 BMP15 FOXL2 FSHR WT1
6 hyperprolactinemia 30.2 GNRH1 PRL SHBG
7 granulosa cell tumor of the ovary 30.2 FOXL2 INHA PRL
8 polycystic ovary syndrome 30.1 CYP11A1 CYP19A1 FSHR GDF9 GNRH1 PRL
9 mammographic density 29.9 CYP19A1 PRL
10 ovarian disease 29.8 BMP15 CYP11A1 CYP19A1 FMR1 FOXL2 FSHR
11 premature ovarian failure 12 12.6
12 premature ovarian failure 13 12.6
13 premature ovarian failure 14 12.6
14 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 12.5
15 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 12.5
16 hypergonadotropic hypogonadism and partial alopecia 12.3
17 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism 12.3
18 cerebellar ataxia and hypergonadotropic hypogonadism 12.3
19 microcephaly hypergonadotropic hypogonadism short stature 12.3
20 postorgasmic illness syndrome 12.1
21 leydig cell hypoplasia 12.1
22 ovarian dysgenesis 2 12.0
23 marinesco-sjogren syndrome 11.7
24 leydig cell hypoplasia, type i 11.5
25 aromatase deficiency 11.5
26 fmr1-related primary ovarian insufficiency 11.5
27 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 11.4
28 short stature, microcephaly, and endocrine dysfunction 11.3
29 ovarian dysgenesis 1 11.3
30 premature ovarian failure 2a 11.3
31 premature ovarian failure 2b 11.3
32 premature ovarian failure 5 11.3
33 premature ovarian failure 6 11.3
34 premature ovarian failure 7 11.3
35 leukoencephalopathy, progressive, with ovarian failure 11.3
36 hypogonadism-cataract syndrome 11.2
37 hypogonadism, male, with mental retardation and skeletal anomalies 11.2
38 hutchinson-gilford progeria syndrome 11.2
39 richards-rundle syndrome 11.2
40 nijmegen breakage syndrome 11.2
41 ovarian dysgenesis 3 11.2
42 ovarian dysgenesis 4 11.2
43 ovarian dysgenesis 5 11.2
44 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 11.2
45 lubinsky syndrome 11.2
46 retinal dystrophy with or without extraocular anomalies 11.1
47 autoimmune polyendocrine syndrome type 1 11.1
48 chromosome xq27.3-q28 duplication syndrome 11.1
49 autoimmune lymphoproliferative syndrome 11.1
50 osteosclerosis with ichthyosis and premature ovarian failure 11.1

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



Diseases related to Premature Ovarian Failure 1

Symptoms & Phenotypes for Premature Ovarian Failure 1

Symptoms via clinical synopsis from OMIM:

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

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

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 Decreased viability GR00381-A-1 10.02 GALT STAR WT1
2 Decreased viability GR00402-S-2 10.02 BMP15 CYP11A1 CYP19A1 DAZL EIF2B2 FMR1
3 no effect GR00402-S-1 9.62 BMP15 CYP11A1 CYP19A1 DAZL EIF2B2 FMR1

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 homeostasis/metabolism MP:0005376 10.07 CYP11A1 CYP19A1 FOXL2 FSHR GALT GDF9
3 growth/size/body region MP:0005378 10.06 CYP11A1 CYP19A1 FMR1 FOXL2 FSHR GALT
4 liver/biliary system MP:0005370 9.76 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 all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
2 Hormones Phase 1, Phase 2
3 Hormone Antagonists Phase 1, Phase 2
4
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
5
Polyestradiol phosphate Approved Phase 1 28014-46-2
6 Estradiol valerate Approved, Investigational, Vet_approved Phase 1 979-32-8
7 Estradiol 17 beta-cypionate Phase 1
8 Estradiol 3-benzoate Phase 1
9 Calcium, Dietary Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
2 Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) Active, not recruiting NCT03069209 Phase 1, Phase 2
3 Inovium Ovarian Rejuvenation Trials Completed NCT03178695 Phase 1
4 Genetic Analysis of Familial Cases of Premature Ovarian Failure Completed NCT01177891

Search NIH Clinical Center for Premature Ovarian Failure 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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
3 Hypergonadotropic Hypogonadism 29

Anatomical Context for Premature Ovarian Failure 1

MalaCards organs/tissues related to Premature Ovarian Failure 1:

41
Ovary, Bone, Eye, Thyroid, Testes, Heart, T Cells
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Premature Ovarian Failure 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 872)
# Title Authors Year
1
Chronic cholestasis is associated with hypogonadism and premature ovarian failure in adult rats (cholestasis causes ovarian hypogonadism). ( 29297778 )
2018
2
Irreversible primary amenorrhea secondary to uterine damage and premature ovarian failure in Ewing's sarcoma in two patients. ( 29857112 )
2018
3
Dilated Cardiomyopathy and Premature Ovarian Failure Unveiling Propionic Aciduria. ( 29592908 )
2018
4
Restoring Ovarian Function With Human Placenta-Derived Mesenchymal Stem Cells in Autoimmune-Induced Premature Ovarian Failure Mice Mediated by Treg Cells and Associated Cytokines. ( 28954601 )
2018
5
Role of Trace Elements, Oxidative Stress and Immune System: a Triad in Premature Ovarian Failure. ( 29181820 )
2018
6
Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry. ( 29275276 )
2018
7
Effects of hPMSCs on granulosa cell apoptosis and AMH expression and their role in the restoration of ovary function in premature ovarian failure mice. ( 29386068 )
2018
8
Curcumin exerts a protective effect against premature ovarian failure in mice. ( 29437881 )
2018
9
hPMSC transplantation restoring ovarian function in premature ovarian failure mice is associated with change of Th17/Tc17 and Th17/Treg cell ratios through the PI3K/Akt signal pathway. ( 29444704 )
2018
10
Ceramide-1-phosphate has protective properties against cyclophosphamide-induced ovarian damage in a mice model of premature ovarian failure. ( 29534229 )
2018
11
Protective function of Bu Shen Huo Xue formula on the immunity of B6AF1 mice with experimental autoimmune premature ovarian failure. ( 29545848 )
2018
12
Current approaches for the treatment of premature ovarian failure with stem cell therapy. ( 29567538 )
2018
13
Human chorionic plate-derived mesenchymal stem cells transplantation restores ovarian function in a chemotherapy-induced mouse model of premature ovarian failure. ( 29615109 )
2018
14
Protective roles and mechanisms of polysaccharides from Dendrobium officinal on natural aging-induced premature ovarian failure. ( 29635905 )
2018
15
Premature ovarian failure, short stature, and Hashimoto's disease in an 18-year-old adolescent girl with 46, X, i(X)(q10). ( 29683020 )
2018
16
Beneficial effects of curcumin and capsaicin on cyclophosphamide-induced premature ovarian failure in a rat model. ( 29699594 )
2018
17
Ablation of beta subunit of protein kinase CK2 in mouse oocytes causes follicle atresia and premature ovarian failure. ( 29725001 )
2018
18
Nanosized titanium dioxide-induced premature ovarian failure is associated with abnormalities in serum parameters in female mice. ( 29731629 )
2018
19
Effects of chronic unpredictable mild stress on ovarian reserve in female rats: Feasibility analysis of a rat model of premature ovarian failure. ( 29749518 )
2018
20
Effect of stem cell transplantation of premature ovarian failure in animal models and patients: A meta-analysis and case report. ( 29755593 )
2018
21
Research on Establishment of Abnormal Phlegmatic Syndrome with Premature Ovarian Failure Rat Model and Effects of Balgham Munziq Treatment. ( 29770151 )
2018
22
Premature ovarian failure of autoimmune etiology in 46XX patients: is there a hope? ( 29794258 )
2018
23
Depletion of follicles accelerated by combined exposure to phthalates and 4-vinylcyclohexene diepoxide, leading to premature ovarian failure in rats. ( 29969652 )
2018
24
Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations. ( 29986653 )
2018
25
Premutations of FMR1 CGG repeats are not related to idiopathic premature ovarian failure in Iranian patients: A case control study. ( 30030199 )
2018
26
Induction of miR-15a expression by tripterygium glycosides caused premature ovarian failure by suppressing the Hippo-YAP/TAZ signaling effector Lats1. ( 30092342 )
2018
27
Intravenous Infusion of Nucleated Peripheral Blood Cells Restores Fertility in Mice with Chemotherapy-Induced Premature Ovarian Failure. ( 30223591 )
2018
28
Analysis on the level of IL-6, IL-21, AMH in patients with auto-immunity premature ovarian failure and study of correlation. ( 30233686 )
2018
29
Heat shock pretreatment of mesenchymal stem cells for inhibiting the apoptosis of ovarian granulosa cells enhanced the repair effect on chemotherapy-induced premature ovarian failure. ( 30257708 )
2018
30
The therapeutic potential of bone marrow mesenchymal stem cells in premature ovarian failure. ( 30286808 )
2018
31
Fertility Enhancement but Premature Ovarian Failure in esr1-Deficient Female Zebrafish. ( 30319547 )
2018
32
Protective effects ROS up-regulation on premature ovarian failure by suppressing ROS-TERT signal pathway. ( 30338789 )
2018
33
Mechanistic approach of the inhibitory effect of chrysin on inflammatory and apoptotic events implicated in radiation-induced premature ovarian failure: Emphasis on TGF-β/MAPKs signaling pathway. ( 30396087 )
2018
34
Niacin Inhibits Apoptosis and Rescues Premature Ovarian Failure. ( 30415247 )
2018
35
Natural history of ovarian function including assessment of ovarian reserve and premature ovarian failure. ( 30420162 )
2018
36
Loss of oocyte Rps26 in mice arrests oocyte growth and causes premature ovarian failure. ( 30451825 )
2018
37
Research on establishment of chronic stress-induced premature ovarian failure rat model and effects of Chinese medicine Munziqi treatment. ( 30512210 )
2018
38
Electro-acupuncture attenuates the mice premature ovarian failure via mediating PI3K/AKT/mTOR pathway. ( 30521869 )
2018
39
Establishment of a Mouse Model of Premature Ovarian Failure Using Consecutive Superovulation. ( 30537739 )
2018
40
Long non-coding RNA HOTAIR overexpression improves premature ovarian failure by upregulating Notch-1 expression. ( 30542434 )
2018
41
Ginsenoside Rg1 improves fertility and reduces ovarian pathological damages in premature ovarian failure model of mice. ( 28178855 )
2017
42
Deriving cells expressing markers of female germ cells from premature ovarian failure patient-specific induced pluripotent stem cells. ( 28244827 )
2017
43
Premature Ovarian Failure - An Unusual Manifestation of Systemic Sclerosis. ( 28479757 )
2017
44
Effects of Bushen Tianjing Recipe in a rat model of tripterygium glycoside-induced premature ovarian failure. ( 28439292 )
2017
45
The potentiality of two-dimensional preantral follicle culture as an in vitro model in predicting premature ovarian failure. ( 28483347 )
2017
46
Gonadotropin-releasing hormone analogues for the prevention of chemotherapy-induced premature ovarian failure in breast cancer patients. ( 28398024 )
2017
47
Physical training promotes similar effects to the blockade of angiotensin-converting enzyme on the cardiac morphology and function in old female rats subjected to premature ovarian failure. ( 28408160 )
2017
48
A general description for Chinese medicine in treating premature ovarian failure. ( 28265850 )
2017
49
BMP15 and GDF9 Gene Mutations in Premature Ovarian Failure. ( 28377898 )
2017
50
Study of the reparative effects of menstrual-derived stem cells on premature ovarian failure in mice. ( 28114977 )
2017

Variations for Premature Ovarian Failure 1

ClinVar genetic disease variations for Premature Ovarian Failure 1:

6 (show top 50) (show all 408)
# Gene Variation Type Significance SNP ID Assembly Location
1 FMR1 FMR1, (CGG)n EXPANSION NT expansion Pathogenic
2 POF1B NM_024921.3(POF1B): c.986G> A (p.Arg329Gln) single nucleotide variant Uncertain significance rs75398746 GRCh37 Chromosome X, 84563194: 84563194
3 POF1B NM_024921.3(POF1B): c.986G> A (p.Arg329Gln) single nucleotide variant Uncertain significance rs75398746 GRCh38 Chromosome X, 85308188: 85308188
4 LHCGR NM_000233.3(LHCGR): c.458+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs76210637 GRCh37 Chromosome 2, 48950758: 48950758
5 LHCGR NM_000233.3(LHCGR): c.458+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs76210637 GRCh38 Chromosome 2, 48723619: 48723619
6 LHCGR NM_000233.3(LHCGR): c.872A> G (p.Asn291Ser) single nucleotide variant Benign rs12470652 GRCh37 Chromosome 2, 48921438: 48921438
7 LHCGR NM_000233.3(LHCGR): c.872A> G (p.Asn291Ser) single nucleotide variant Benign rs12470652 GRCh38 Chromosome 2, 48694299: 48694299
8 NOBOX NM_001080413.3(NOBOX): c.1444G> A (p.Gly482Ser) single nucleotide variant Benign rs2525702 GRCh37 Chromosome 7, 144096068: 144096068
9 NOBOX NM_001080413.3(NOBOX): c.1444G> A (p.Gly482Ser) single nucleotide variant Benign rs2525702 GRCh38 Chromosome 7, 144398975: 144398975
10 NOBOX NM_001080413.3(NOBOX): c.42T> C (p.Gly14=) single nucleotide variant Benign/Likely benign rs1208179 GRCh37 Chromosome 7, 144107279: 144107279
11 NOBOX NM_001080413.3(NOBOX): c.42T> C (p.Gly14=) single nucleotide variant Benign/Likely benign rs1208179 GRCh38 Chromosome 7, 144410186: 144410186
12 MCM9 NM_017696.2(MCM9): c.1533C> A (p.Tyr511Ter) single nucleotide variant not provided rs587777873 GRCh38 Chromosome 6, 118828126: 118828126
13 MCM9 NM_017696.2(MCM9): c.1533C> A (p.Tyr511Ter) single nucleotide variant not provided rs587777873 GRCh37 Chromosome 6, 119149289: 119149289
14 MCM9 NM_017696.2(MCM9): c.1732+2T> C single nucleotide variant Pathogenic rs587777871 GRCh38 Chromosome 6, 118827925: 118827925
15 MCM9 NM_017696.2(MCM9): c.1732+2T> C single nucleotide variant Pathogenic rs587777871 GRCh37 Chromosome 6, 119149088: 119149088
16 MCM9 NM_017696.2(MCM9): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs587777872 GRCh38 Chromosome 6, 118924038: 118924038
17 MCM9 NM_017696.2(MCM9): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs587777872 GRCh37 Chromosome 6, 119245203: 119245203
18 AADAC; AADACL2-AS1 GRCh37/hg19 3q25.1(chr3: 151514590-151574286)x1 deletion Benign GRCh38 Chromosome 3, 151796802: 151856498
19 AADAC; AADACL2-AS1 GRCh37/hg19 3q25.1(chr3: 151514590-151574286)x1 deletion Benign GRCh37 Chromosome 3, 151514590: 151574286
20 not provided NC_000003.12: g.162413620_162424687del11068 deletion 0 rsRCV000161316;RCV000161314;RCV000161312;RCV000161315;RCV000161313 Chromosome 3, 162413620:162424687 156886
21 not provided NC_000003.12: g.162413620_162424687del11068 deletion 0 rsRCV000161316;RCV000161314;RCV000161312;RCV000161315;RCV000161313 Chromosome 3, 162413620:162424687 156886
22 not provided NC_000003.12: g.162413620_162424687del11068 deletion 0 rsRCV000161316;RCV000161314;RCV000161312;RCV000161315;RCV000161313 Chromosome 3, 162131408:162142475 156886
23 not provided NC_000003.12: g.162413620_162424687del11068 deletion 0 rsRCV000161316;RCV000161314;RCV000161312;RCV000161315;RCV000161313 Chromosome 3, 162131408:162142475 156886
24 NOBOX NM_001080413.3(NOBOX): c.349C> T (p.Arg117Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs7800847 GRCh38 Chromosome 7, 144401541: 144401541
25 NOBOX NM_001080413.3(NOBOX): c.349C> T (p.Arg117Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs7800847 GRCh37 Chromosome 7, 144098634: 144098634
26 FIGLA NM_001004311.3(FIGLA): c.*5T> A single nucleotide variant Benign rs56135050 GRCh37 Chromosome 2, 71004494: 71004494
27 FIGLA NM_001004311.3(FIGLA): c.*5T> A single nucleotide variant Benign rs56135050 GRCh38 Chromosome 2, 70777362: 70777362
28 FIGLA NM_001004311.3(FIGLA): c.*7A> G single nucleotide variant Benign rs56316086 GRCh37 Chromosome 2, 71004492: 71004492
29 FIGLA NM_001004311.3(FIGLA): c.*7A> G single nucleotide variant Benign rs56316086 GRCh38 Chromosome 2, 70777360: 70777360
30 AGBL4; BEND5 GRCh37/hg19 1p33(chr1: 49100192-50081573)x1 copy number loss Uncertain significance GRCh37 Chromosome 1, 49100192: 50081573
31 PATJ GRCh37/hg19 1p31.3(chr1: 62212822-62422442)x1 copy number loss Uncertain significance GRCh37 Chromosome 1, 62212822: 62422442
32 Benign GRCh37/hg19 1p21.1(chr1: 102673499-102843725)x1 copy number loss 0 rsRCV000225273 Chromosome 1, 102673499:102843725 221684
33 SYT6 GRCh37/hg19 1p13.2(chr1: 114616228-114720018)x1 copy number loss Benign GRCh37 Chromosome 1, 114616228: 114720018
34 CFH; CFHR1; CFHR3; CFHR4 GRCh37/hg19 1q31.3(chr1: 196712596-196882038)x1 copy number loss Benign GRCh37 Chromosome 1, 196712596: 196882038
35 FMN2 GRCh37/hg19 1q43(chr1: 240371821-240561727)x1 copy number loss Uncertain significance GRCh37 Chromosome 1, 240371821: 240561727
36 PLD5 GRCh37/hg19 1q43(chr1: 242529469-242554564)x1 copy number loss Benign GRCh37 Chromosome 1, 242529469: 242554564
37 Benign GRCh37/hg19 2p22.3(chr2: 35398456-35666876)x1 copy number loss 0 rsRCV000225222 Chromosome 2, 35398456:35666876 221689
38 Benign GRCh37/hg19 2p22.3(chr2: 35819686-36087642)x1 copy number loss 0 rsRCV000225310 Chromosome 2, 35819686:36087642 221690
39 ALMS1; NAT8 GRCh37/hg19 2p13.1(chr2: 73828493-73900329)x1 copy number loss Pathogenic GRCh37 Chromosome 2, 73828493: 73900329
40 Benign GRCh37/hg19 2q14.3(chr2: 124242527-124306147)x1 copy number loss 0 rsRCV000225247 Chromosome 2, 124242527:124306147 221692
41 OSBPL6 GRCh37/hg19 2q31.2(chr2: 179071826-179188986)x1 copy number loss Benign GRCh37 Chromosome 2, 179071826: 179188986
42 Benign GRCh37/hg19 2q37.3(chr2: 242917734-243034519)x0 copy number loss 0 rsRCV000225148 Chromosome 2, 242917734:243034519 221694
43 Benign GRCh37/hg19 3p24.2(chr3: 26021365-26121843)x1 copy number loss 0 rsRCV000225259 Chromosome 3, 26021365:26121843 221695
44 FHIT GRCh37/hg19 3p14.2(chr3: 60089314-60237710)x1 copy number loss Benign GRCh37 Chromosome 3, 60089314: 60237710
45 Benign GRCh37/hg19 3p12.3(chr3: 75419736-75636449)x1 copy number loss 0 rsRCV000225176 Chromosome 3, 75419736:75636449 221697
46 CADM2 GRCh37/hg19 3p12.1(chr3: 85477017-85608137)x1 copy number loss Benign GRCh37 Chromosome 3, 85477017: 85608137
47 GRAMD1C GRCh37/hg19 3q13.31(chr3: 113576202-113620344)x1 copy number loss Benign GRCh37 Chromosome 3, 113576202: 113620344
48 UGT2B15 GRCh37/hg19 4q13.2(chr4: 69492319-69512654)x1 copy number loss Benign GRCh37 Chromosome 4, 69492319: 69512654
49 SPATA4; WDR17 GRCh37/hg19 4q34.2(chr4: 177006043-177109326)x1 copy number loss Uncertain significance GRCh37 Chromosome 4, 177006043: 177109326
50 Benign GRCh37/hg19 4q35.2(chr4: 188088282-188269838)x1 copy number loss 0 rsRCV000225204 Chromosome 4, 188088282:188269838 221703

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 Calcium signaling pathway hsa04020
2 Neuroactive ligand-receptor interaction hsa04080
3 Regulation of actin cytoskeleton hsa04810

GO Terms for Premature Ovarian Failure 1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.96 BMP15 GDF9 GNRH1 INHA PRL
2 response to organic cyclic compound GO:0014070 9.79 GNRH1 PRL STAR
3 response to ethanol GO:0045471 9.78 GNRH1 PRL STAR
4 steroid biosynthetic process GO:0006694 9.71 CYP11A1 CYP19A1 STAR
5 cell development GO:0048468 9.7 BMP15 GDF9 INHA
6 response to peptide hormone GO:0043434 9.69 EIF2B2 GNRH1 STAR
7 SMAD protein signal transduction GO:0060395 9.67 BMP15 GDF9 INHA
8 male gonad development GO:0008584 9.67 FSHR INHA STAR WT1
9 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.61 BMP15 GDF9 INHA
10 estrogen biosynthetic process GO:0006703 9.6 CYP19A1 STAR
11 gonad development GO:0008406 9.59 FSHR WT1
12 C21-steroid hormone biosynthetic process GO:0006700 9.58 CYP11A1 STAR
13 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.58 FSHR STAR
14 ovulation cycle GO:0042698 9.57 GNRH1 PRL
15 cellular response to gonadotropin stimulus GO:0071371 9.55 STAR WT1
16 female gonad development GO:0008585 9.5 CYP19A1 FOXL2 FSHR
17 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.48 FOXL2 INHA
18 testosterone biosynthetic process GO:0061370 9.46 CYP19A1 STAR
19 regulation of MAPK cascade GO:0043408 9.46 BMP15 FSHR GDF9 INHA
20 uterus development GO:0060065 9.43 CYP19A1 FOXL2 FSHR
21 oocyte growth GO:0001555 9.4 FOXL2 GDF9
22 ovarian follicle development GO:0001541 9.26 BMP15 EIF2B2 FOXL2 INHA
23 female gamete generation GO:0007292 8.92 BMP15 FSHR GDF9 MCM9

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 GNRH1 INHA PRL
2 transforming growth factor beta receptor binding GO:0005160 8.8 BMP15 GDF9 INHA
3 protein binding GO:0005515 10.06 CYP11A1 DAZL EIF2B2 FMR1 FOXL2 FOXP2

Sources for Premature Ovarian Failure 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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44 MeSH
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55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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