POF1
MCID: PRM196
MIFTS: 58

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 12 20 43 72 29 13 6 37
Primary Ovarian Insufficiency, Fragile X-Associated 57 6 70
Fragile X-Associated Primary Ovarian Insufficiency 12 20 43
Fmr1-Related Primary Ovarian Insufficiency 12 20 43
Ovarian Failure, Premature 57 39 70
Hypergonadotropic Ovarian Failure, X-Linked 57 70
Ovarian Failure Premature 72 54
Pof1 57 72
Pofx 57 72
Pof 57 72
Idiopathic Familial Premature Ovarian Failure 20
X-Linked Hypergonadotropic Ovarian Failure 43
Hypergonadotropic Ovarian Failure X-Linked 72
Premature Ovarian Failure, X-Linked; Pofx 57
Fmr1-Related Premature Ovarian Failure 20
Premature Ovarian Failure, X-Linked 57
Fragile X Premature Ovarian Failure 57
Premature Ovarian Failure, Familial 70
Familial Premature Ovarian Failure 20
Premature Ovarian Failure X-Linked 72
Ovarian Failure, Premature, Type 1 39
Ovarian Failure, Premature; Pof 57
Primary Ovarian Insufficiency 1 12
Primary Ovarian Insufficiency 72
Primary Hypogonadism 70
Premature Menopause 70
Turner Syndrome 70
Fxpoi 43
Poi 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked


HPO:

31
premature ovarian failure 1:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080857
OMIM® 57 311360
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
SNOMED-CT via HPO 68 263934009 373717006 80182007
UMLS 70 C0025322 C0041408 C0085215 more

Summaries for Premature Ovarian Failure 1

MedlinePlus Genetics : 43 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.

MalaCards based summary : Premature Ovarian Failure 1, also known as primary ovarian insufficiency, fragile x-associated, is related to perrault syndrome and fmr1 disorders, and has symptoms including pelvic pain An important gene associated with Premature Ovarian Failure 1 is FMR1 (FMRP Translational Regulator 1). The drugs Polyestradiol phosphate and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Umbilical Cord, and related phenotypes are increased circulating gonadotropin level and premature ovarian insufficiency

Disease Ontology : 12 A primary ovarian insufficiency that has material basis in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28).

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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.

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 Premature Ovarian Failure 17
Premature Ovarian Failure 18 Premature Ovarian Failure 19
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 189)
# Related Disease Score Top Affiliating Genes
1 perrault syndrome 31.9 SGO2 NOBOX MCM9
2 fmr1 disorders 31.0 FRAXA FMR1
3 galactosemia i 30.8 PMM2 NOBOX GALT
4 fragile x syndrome 30.2 LOC107032825 FRAXA FMR1 AFF2
5 ovarian disease 30.2 STAG3 NOBOX GALT FMR1
6 fragile x tremor/ataxia syndrome 30.2 LOC107032825 FRAXA FMR1
7 fragile x-associated tremor/ataxia syndrome 30.0 LOC107032825 FRAXA FMR1 AFF2
8 premature menopause 28.3 STAG3 SGO2 RAD54L PMM2 NOBOX MCM9
9 primary ovarian insufficiency 9 11.5
10 primary ovarian insufficiency 2a 11.5
11 primary ovarian insufficiency 2b 11.5
12 primary ovarian insufficiency 3 11.5
13 primary ovarian insufficiency 4 11.5
14 primary ovarian insufficiency 5 11.5
15 primary ovarian insufficiency 6 11.5
16 primary ovarian insufficiency 7 11.5
17 primary ovarian insufficiency 8 11.5
18 primary ovarian insufficiency 10 11.5
19 primary ovarian insufficiency 11 11.5
20 primary ovarian insufficiency 12 11.5
21 primary ovarian insufficiency 13 11.5
22 primary ovarian insufficiency 14 11.5
23 primary ovarian insufficiency 15 11.5
24 primary ovarian insufficiency 16 11.5
25 primary ovarian insufficiency 17 11.5
26 autoimmune oophoritis 11.3
27 retinal dystrophy with or without extraocular anomalies 11.3
28 ovarian dysgenesis 1 11.2
29 premature ovarian failure 2a 11.2
30 premature ovarian failure 2b 11.2
31 premature ovarian failure 5 11.2
32 premature ovarian failure 6 11.2
33 premature ovarian failure 7 11.2
34 blepharophimosis, ptosis, and epicanthus inversus 11.2
35 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.1
36 osteosclerosis with ichthyosis and premature ovarian failure 11.0
37 perrault syndrome 3 10.9
38 perrault syndrome 4 10.9
39 premature ovarian failure 10 10.9
40 premature ovarian failure 8 10.9
41 premature ovarian failure 9 10.9
42 premature ovarian failure 11 10.9
43 premature ovarian failure 15 10.9
44 premature ovarian failure 17 10.9
45 premature ovarian failure 18 10.9
46 premature ovarian failure 19 10.9
47 ataxia and polyneuropathy, adult-onset 10.5
48 tremor 10.5
49 thrombocythemia 3 10.3 JAK2 INSL6
50 amenorrhea 10.2

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 increased circulating gonadotropin level 31 HP:0000837
2 premature ovarian insufficiency 31 HP:0008209
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 irregular menstruation 31 HP:0000858

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 substrate adherent cell growth GR00193-A-2 9.02 JAK2
2 Decreased substrate adherent cell growth GR00193-A-3 9.02 BRDT CHEK2 JAK2
3 Decreased substrate adherent cell growth GR00193-A-4 9.02 CHEK2

MGI Mouse Phenotypes related to Premature Ovarian Failure 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 BRDT CHEK2 FMR1 GALT INSL6 JAK2
2 endocrine/exocrine gland MP:0005379 9.77 ADAMTS1 ADAMTS6 AFP BRDT CHEK2 FMR1
3 reproductive system MP:0005389 9.44 ADAMTS1 AFP BMP6 BRDT CHEK2 FMR1

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 100)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Polyestradiol phosphate Approved Phase 4 28014-46-2
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
4
Norethindrone Approved Phase 4 68-22-4 6230
5
Lactitol Approved, Investigational Phase 4 585-86-4 157355
6
Sargramostim Approved, Investigational Phase 4 123774-72-1, 83869-56-1
7
Lenograstim Approved, Investigational Phase 4 135968-09-1
8
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
9
Molgramostim Investigational Phase 4 99283-10-0
10 Adjuvants, Immunologic Phase 4
11 Immunologic Factors Phase 4
12 Estradiol 3-benzoate Phase 4
13 Estradiol 17 beta-cypionate Phase 4
14 Estrogens Phase 4
15 Progestins Phase 4
16 Norethindrone Acetate Phase 4
17 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
18 Norinyl Phase 4
19
Methyltestosterone Approved Phase 3 58-18-4 6010
20
Testosterone undecanoate Approved, Investigational Phase 3 5949-44-0
21
Testosterone enanthate Approved Phase 3 315-37-7 9416
22
Testosterone Approved, Investigational Phase 3 58-22-0 6013
23
Oxandrolone Approved, Investigational Phase 3 53-39-4 5878
24
Metronidazole Approved Phase 3 443-48-1 4173
25
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
26
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
27
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 5881
28
Black cohosh Experimental Phase 3
29 Anabolic Agents Phase 3
30 Antineoplastic Agents, Hormonal Phase 3
31 Testosterone 17 beta-cypionate Phase 3
32 Contraceptive Agents Phase 3
33 Contraceptives, Oral Phase 3
34 Contraceptive Agents, Male Phase 3
35 Androgens Phase 2, Phase 3
36 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
37 Epinephryl borate Phase 2, Phase 3
38 Phytoestrogens Phase 3
39
Goserelin Approved Phase 2 65807-02-5 47725 5311128
40
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
41
Progesterone Approved, Vet_approved Phase 1, Phase 2 57-83-0 5994
42 Follicle Stimulating Hormone Phase 1, Phase 2
43 Mitogens Phase 1, Phase 2
44
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1 1406-16-2
45
Vitamin D3 Approved, Nutraceutical Phase 1 67-97-0 6221 5280795
46 Estrogens, Conjugated (USP) Phase 1
47 Calcium, Dietary Phase 1
48 Trace Elements Phase 1
49 Nutrients Phase 1
50 Micronutrients Phase 1

Interventional clinical trials:

(show top 50) (show all 181)
# Name Status NCT ID Phase Drugs
1 Filgrastim for Treatment of Premature Ovarian Insufficiency: Randomized Clinical Trial Unknown status NCT02783937 Phase 4 Saline
2 Effects of Adipose Derived Stem Cell Therapy in Women With Premature Ovarian Failure Unknown status NCT01853501 Phase 4
3 Estrogen Dosing in Turner Syndrome:Pharmacology & Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
4 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
5 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)
6 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
7 Effect of Early Growth Hormone Treatment on Long-term Growth and Skeletal Maturation in Girls With Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
8 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
9 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
10 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
11 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
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 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 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
15 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
16 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
17 Estrogen Replacement in Hypogonadal Girls Treated With GH: Differential Effects of Mode of Estrogen Delivery Completed NCT00140998 Phase 3 17 beta estradiol
18 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)
19 Humatrope Treatment to Final Height in Turner's Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
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 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
22 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
23 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®
24 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
25 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
26 The Use of Norditropin® in Turner's Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
27 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
28 Primary Ovarian Insufficiency: Phenotype and Optimal Treatment Recruiting NCT03568708 Phase 3 Transdermal Estrogen
29 4-step ASCOT in POI Women to Promote Follicular Rescue Recruiting NCT04475744 Phase 3 G-CSF treatment for Bone marrow derived stem cell Mobilization
30 Investigating Reactivation of Ovarian Function Following Autologous PRP Intra-ovarian Infusion in POI Patients Recruiting NCT04031456 Phase 2, Phase 3
31 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
32 Effect of Exercise and Exercise + Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
33 A Randomized Double Blinded Trail of DHEA Supplementation for Treatment of Couples With Premature Ovarian Failure (POF). Terminated NCT00948857 Phase 2, Phase 3
34 Optimal Hormone Replacement for Women With Premature Ovarian Insufficiency Withdrawn NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
35 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Unknown status NCT03033277 Phase 1, Phase 2
36 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
37 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
38 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
39 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
40 A Phase 2 Study of Pegylated Recombinant Human Growth Hormone Injection to Treat Children of Turner Syndrome Unknown status NCT03189160 Phase 2
41 Chinese Medicine(Hu Yang Yang Kun Formula) for Primary Ovarian Insufficiency:Randomized, Double-blind, DHEA-controlled Trial Completed NCT02794948 Phase 1, Phase 2
42 The Safety and Efficacy Assessment of Human Umbilical Cord-derived Mesenchymal Stem Cells (HUC-MSCs) With Injectable Collagen Scaffold Transplantation in Woman With Premature Ovarian Failure (POF) Completed NCT02644447 Phase 1, Phase 2
43 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
44 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
45 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure (POF) Completed NCT02151890 Phase 1, Phase 2
46 Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients Completed NCT04536467 Phase 2 Goserelin;Chemotherapy
47 Phase II Study of GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
48 Phase II Randomized Study of Oxandrolone vs Placebo for Growth Hormone-Treated Girls With Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
49 Estrogen Effects on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
50 The Relative Effects of Androgen, Estrogen, and the Combination of Androgen and Estrogen on Growth Rate, GH Binding Protein, IGF-I, and Cognitive Function in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone

Search NIH Clinical Center for Premature Ovarian Failure 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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.

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

Anatomical Context for Premature Ovarian Failure 1

MalaCards organs/tissues related to Premature Ovarian Failure 1:

40
Ovary, Bone, Bone Marrow, Cortex, Brain, Liver, Breast
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 Primordial Follicle Primary Oocyte Affected by disease, potential therapeutic candidate
5 Ovary Primary 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 149)
# 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. 6 57
10208170 1999
2
Studies of FRAXA and FRAXE in women with premature ovarian failure. 6 57
9719368 1998
3
Genetics of primary ovarian insufficiency. 57
27861765 2017
4
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency. 57
27603904 2016
5
Genetics of primary ovarian insufficiency: new developments and opportunities. 57
26243799 2015
6
Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency. 57
23703681 2014
7
Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure. 6
21256485 2011
8
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. 57
17265046 2007
9
Premature ovarian failure in androgen receptor-deficient mice. 57
16373508 2006
10
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. 57
16078053 2005
11
Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. 57
15811012 2005
12
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. 57
15280899 2004
13
Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey. 57
15054835 2004
14
Dry eye signs and symptoms in women with premature ovarian failure. 57
14769589 2004
15
Genes and translocations involved in POF. 57
12210333 2002
16
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. 6
11445641 2001
17
Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. 57
11129329 2000
18
Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X. 57
10848496 2000
19
No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers. 57
10848495 2000
20
Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? 57
10848491 2000
21
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. 57
10677300 2000
22
Microdeletions in FMR2 may be a significant cause of premature ovarian failure. 57
10528856 1999
23
Human leukocyte antigen-DQB1* genotypes encoding aspartate at position 57 are associated with 3beta-hydroxysteroid dehydrogenase autoimmunity in premature ovarian failure. 57
10084595 1999
24
A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. 57
9853851 1998
25
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. 57
9497258 1998
26
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. 57
9254860 1997
27
An analysis of Xq deletions. 57
8786087 1996
28
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 57
8334699 1993
29
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. 57
8095365 1993
30
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
31
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. 6
1675488 1991
32
Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. 57
3600701 1987
33
Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present. 57
3471705 1987
34
Familial premature ovarian failure. 57
6517055 1984
35
X long-arm deletions. A review of non-mosaic cases studied with banding techniques. 57
6745919 1984
36
Evidence for a genetic factor in the etiology of premature ovarian failure. 57
6628716 1983
37
Premature gonadal failure. 57
7141005 1982
38
Premature menopause due to a small deletion in the long arm of the X chromosome: a report of three cases and a review. 57
7041651 1982
39
Hypergonadotropic hypogonadism in female patients with galactosemia. 57
6782485 1981
40
Three siblings with premature gonadal failure. 57
499583 1979
41
A new syndrome of amenorrhae in association with hypergonadotropism and apparently normal ovarian follicular apparatus. 57
5786709 1969
42
Premature ovarian failure. 57
6028784 1967
43
Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2. 54
19917504 2010
44
Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. 54
20364024 2010
45
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 54
20425835 2010
46
Premature ovarian failure and FMR1 gene mutations: an update. 54
20398889 2010
47
FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells. 54
20207836 2010
48
Mutation analysis of FOXL2 gene in Chinese patients with premature ovarian failure. 54
20222838 2010
49
Co-occurring diagnoses among FMR1 premutation allele carriers. 61
20059484 2010
50
Toward gene therapy of premature ovarian failure: intraovarian injection of adenovirus expressing human FSH receptor restores folliculogenesis in FSHR(-/-) FORKO mice. 54
20086006 2010

Variations for Premature Ovarian Failure 1

ClinVar genetic disease variations for Premature Ovarian Failure 1:

6 (show top 50) (show all 289)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCM9 NM_017696.2(MCM9):c.1732+2T>C SNV Pathogenic 156587 rs587777871 GRCh37: 6:119149088-119149088
GRCh38: 6:118827925-118827925
2 MCM9 NM_017696.2(MCM9):c.394C>T (p.Arg132Ter) SNV Pathogenic 156588 rs587777872 GRCh37: 6:119245203-119245203
GRCh38: 6:118924038-118924038
3 FMR1 FMR1, (CGG)n REPEAT EXPANSION Microsatellite Pathogenic 9972 GRCh37:
GRCh38:
4 overlap with 2 genes GRCh38/hg38 2p13.1(chr2:73601366-73673202)x1 copy number loss Pathogenic 221691 GRCh37: 2:73828493-73900329
GRCh38: 2:73601366-73673202
5 overlap with 159 genes GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Pathogenic 221776 GRCh37: X:99931059-120328627
GRCh38:
6 overlap with 30 genes GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1 copy number loss Pathogenic 221719 GRCh37: 8:8131816-12249050
GRCh38:
7 SGO2 NM_152524.6(SGO2):c.1451_1452GA[1] (p.Glu485fs) Microsatellite Pathogenic 375672 rs1057519602 GRCh37: 2:201436519-201436520
GRCh38: 2:200571796-200571797
8 FMR1 , FRAXA , LOC107032825 NM_002024.5(FMR1):c.-128_-126GGC(55_200) Microsatellite Pathogenic 623467 GRCh37: X:146993570-146993572
GRCh38: X:147912052-147912054
9 RAD54L NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp) SNV Pathogenic 929734 GRCh37: 1:46736426-46736426
GRCh38: 1:46270754-46270754
10 BRDT NM_001726.4(BRDT):c.1538del (p.Asp513fs) Deletion Pathogenic 929738 GRCh37: 1:92446523-92446523
GRCh38: 1:91980966-91980966
11 CHEK2 NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) SNV Pathogenic 141818 rs200928781 GRCh37: 22:29091788-29091788
GRCh38: 22:28695800-28695800
12 PMM2 NM_000303.3(PMM2):c.323C>T (p.Ala108Val) SNV Pathogenic 92800 rs200503569 GRCh37: 16:8900240-8900240
GRCh38: 16:8806383-8806383
13 GALT NM_000155.4(GALT):c.667C>T (p.Arg223Cys) SNV Pathogenic 529225 rs111033750 GRCh37: 9:34648433-34648433
GRCh38: 9:34648436-34648436
14 JAK2 , INSL6 NM_004972.4(JAK2):c.436G>A (p.Asp146Asn) SNV Pathogenic 929762 GRCh37: 9:5044488-5044488
GRCh38: 9:5044488-5044488
15 STAG3 NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter) SNV Pathogenic 929755 GRCh37: 7:99795404-99795404
GRCh38: 7:100197781-100197781
16 POR NM_000941.3(POR):c.1588C>T (p.Pro530Ser) SNV Likely pathogenic 929754 GRCh37: 7:75615086-75615086
GRCh38: 7:75985768-75985768
17 IGF2R NM_000876.4(IGF2R):c.451C>T (p.His151Tyr) SNV Likely pathogenic 929753 GRCh37: 6:160431755-160431755
GRCh38: 6:160010723-160010723
18 ATG9B NM_001317056.1(ATG9B):c.1480G>T (p.Glu494Ter) SNV Likely pathogenic 929759 GRCh37: 7:150715945-150715945
GRCh38: 7:151018858-151018858
19 NOS3 NM_000603.5(NOS3):c.505G>A (p.Glu169Lys) SNV Likely pathogenic 929758 GRCh37: 7:150693936-150693936
GRCh38: 7:150996848-150996848
20 NOS3 NM_000603.5(NOS3):c.172C>T (p.Pro58Ser) SNV Likely pathogenic 929757 GRCh37: 7:150692304-150692304
GRCh38: 7:150995216-150995216
21 NOBOX NM_001080413.3(NOBOX):c.1440G>C (p.Lys480Asn) SNV Likely pathogenic 929756 GRCh37: 7:144096072-144096072
GRCh38: 7:144398979-144398979
22 DMRT3 NM_021240.4(DMRT3):c.1327C>T (p.Pro443Ser) SNV Likely pathogenic 929761 GRCh37: 9:990913-990913
GRCh38: 9:990913-990913
23 WT1 NM_024426.6(WT1):c.1021A>G (p.Ser341Gly) SNV Likely pathogenic 929769 GRCh37: 11:32421586-32421586
GRCh38: 11:32400040-32400040
24 CYP17A1 NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly) SNV Likely pathogenic 929767 GRCh37: 10:104594564-104594564
GRCh38: 10:102834807-102834807
25 BMP6 NM_001718.6(BMP6):c.409C>A (p.Leu137Met) SNV Likely pathogenic 929751 GRCh37: 6:7727597-7727597
GRCh38: 6:7727364-7727364
26 ADAMTS6 NM_197941.4(ADAMTS6):c.2840G>A (p.Arg947Gln) SNV Likely pathogenic 929750 GRCh37: 5:64483913-64483913
GRCh38: 5:65188086-65188086
27 RICTOR NM_152756.5(RICTOR):c.1325A>G (p.His442Arg) SNV Likely pathogenic 929749 GRCh37: 5:38964969-38964969
GRCh38: 5:38964867-38964867
28 PRLR NM_000949.7(PRLR):c.851T>G (p.Leu284Trp) SNV Likely pathogenic 929748 GRCh37: 5:35068322-35068322
GRCh38: 5:35068220-35068220
29 AFP NM_001134.3(AFP):c.1822G>A (p.Gly608Arg) SNV Likely pathogenic 929747 GRCh37: 4:74320989-74320989
GRCh38: 4:73455272-73455272
30 ZNF462 NM_021224.6(ZNF462):c.3515C>G (p.Pro1172Arg) SNV Likely pathogenic 929764 GRCh37: 9:109689708-109689708
GRCh38: 9:106927427-106927427
31 AFF2 NM_002025.4(AFF2):c.3203C>G (p.Ser1068Trp) SNV Likely pathogenic 929787 GRCh37: X:148048609-148048609
GRCh38: X:148967079-148967079
32 NTRK1 NM_001007792.1(NTRK1):c.2011G>A (p.Glu671Lys) SNV Likely pathogenic 526718 rs747855434 GRCh37: 1:156849863-156849863
GRCh38: 1:156880071-156880071
33 NOTCH2 NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln) SNV Likely pathogenic 929740 GRCh37: 1:120464967-120464967
GRCh38: 1:119922344-119922344
34 NR5A2 NM_205860.3(NR5A2):c.681T>G (p.His227Gln) SNV Likely pathogenic 929741 GRCh37: 1:200017517-200017517
GRCh38: 1:200048389-200048389
35 DPPA2 NM_138815.4(DPPA2):c.833T>C (p.Leu278Ser) SNV Likely pathogenic 929745 GRCh37: 3:109023343-109023343
GRCh38: 3:109304496-109304496
36 MECOM NM_004991.4(MECOM):c.3019G>A (p.Gly1007Ser) SNV Likely pathogenic 929746 GRCh37: 3:168812864-168812864
GRCh38: 3:169095076-169095076
37 KDR NM_002253.3(KDR):c.724C>T (p.Leu242Phe) SNV Likely pathogenic 134612 rs587778428 GRCh37: 4:55980367-55980367
GRCh38: 4:55114200-55114200
38 BRWD1 NM_033656.4(BRWD1):c.656G>A (p.Arg219His) SNV Likely pathogenic 929785 GRCh37: 21:40665912-40665912
GRCh38: 21:39293986-39293986
39 ADAMTS1 NM_006988.5(ADAMTS1):c.1304C>A (p.Ser435Tyr) SNV Likely pathogenic 929783 GRCh37: 21:28213391-28213391
GRCh38: 21:26841072-26841072
40 SIRT6 NM_016539.4(SIRT6):c.362G>A (p.Arg121His) SNV Likely pathogenic 929782 GRCh37: 19:4179116-4179116
GRCh38: 19:4179119-4179119
41 RAD51C NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly) SNV Likely pathogenic 142585 rs587782565 GRCh37: 17:56811542-56811542
GRCh38: 17:58734181-58734181
42 FANCA NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) SNV Likely pathogenic 929781 GRCh37: 16:89809308-89809308
GRCh38: 16:89742900-89742900
43 SH2B1 NM_015503.2(SH2B1):c.1846T>C (p.Ser616Pro) SNV Likely pathogenic 929780 GRCh37: 16:28883975-28883975
GRCh38: 16:28872654-28872654
44 POLG NM_002693.3(POLG):c.1685G>A (p.Arg562Gln) SNV Likely pathogenic 929779 GRCh37: 15:89869870-89869870
GRCh38: 15:89326639-89326639
45 BNC1 NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile) SNV Likely pathogenic 929778 GRCh37: 15:83931730-83931730
GRCh38: 15:83262978-83262978
46 MIR4713HG , CYP19A1 , PIRC66 NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) SNV Likely pathogenic 887524 GRCh37: 15:51520044-51520044
GRCh38: 15:51227847-51227847
47 THBS1 NM_003246.4(THBS1):c.1060C>T (p.Pro354Ser) SNV Likely pathogenic 929776 GRCh37: 15:39877704-39877704
GRCh38: 15:39585503-39585503
48 RYR3 NM_001036.5(RYR3):c.3092A>T (p.Lys1031Met) SNV Likely pathogenic 461901 rs753104655 GRCh37: 15:33926851-33926851
GRCh38: 15:33634650-33634650
49 MLH3 NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg) SNV Likely pathogenic 836477 GRCh37: 14:75514972-75514972
GRCh38: 14:75048269-75048269
50 RAD54L , LRRC41 NM_003579.4(RAD54L):c.1883A>C (p.Glu628Ala) SNV Likely pathogenic 929735 GRCh37: 1:46743502-46743502
GRCh38: 1:46277830-46277830

Expression for Premature Ovarian Failure 1

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

Pathways for Premature Ovarian Failure 1

GO Terms for Premature Ovarian Failure 1

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

# Name GO ID Score Top Affiliating Genes
1 chromosome, centromeric region GO:0000775 8.8 STAG3 SGO2 FMR1

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

# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.43 BMP6 ADAMTS6 ADAMTS1
2 positive regulation of SMAD protein signal transduction GO:0060391 9.16 JAK2 BMP6
3 ovulation from ovarian follicle GO:0001542 8.96 AFP ADAMTS1
4 meiotic cell cycle GO:0051321 8.92 STAG3 SGO2 RAD54L BRDT

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

# Name GO ID Score Top Affiliating Genes
1 G-quadruplex RNA binding GO:0002151 8.62 FMR1 AFF2

Sources for Premature Ovarian Failure 1

3 CDC
7 CNVD
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
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