POF1
MCID: PRM196
MIFTS: 59

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 73 29 13 6 37
Primary Ovarian Insufficiency, Fragile X-Associated 57 6 71
Fragile X-Associated Primary Ovarian Insufficiency 12 20 43
Fmr1-Related Primary Ovarian Insufficiency 12 20 43
Ovarian Failure, Premature 57 39 71
Hypergonadotropic Ovarian Failure, X-Linked 57 71
Ovarian Failure Premature 73 54
Pof1 57 73
Pofx 57 73
Pof 57 73
Idiopathic Familial Premature Ovarian Failure 20
X-Linked Hypergonadotropic Ovarian Failure 43
Hypergonadotropic Ovarian Failure X-Linked 73
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
Familial Premature Ovarian Failure 20
Premature Ovarian Failure X-Linked 73
Ovarian Failure, Premature, Type 1 39
Ovarian Failure, Premature; Pof 57
Primary Ovarian Insufficiency 1 12
Primary Ovarian Insufficiency 73
Primary Hypogonadism 71
Premature Menopause 71
Turner Syndrome 71
Fxpoi 43
Poi 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-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 71 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 galactosemia i, 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 Diseases of glycosylation and O-glycosylation of TSR domain-containing proteins. The drugs Estradiol and Polyestradiol phosphate 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 05-Mar-2021)

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.

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 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 177)
# Related Disease Score Top Affiliating Genes
1 perrault syndrome 31.9 SGO2 NOBOX MCM9
2 galactosemia i 30.7 PMM2 NOBOX GALT
3 ovarian disease 30.1 STAG3 NOBOX GALT FMR1
4 premature menopause 27.8 STAG3 SGO2 RAD54L PMM2 NOBOX MCM9
5 primary ovarian insufficiency 9 11.5
6 primary ovarian insufficiency 2a 11.5
7 primary ovarian insufficiency 2b 11.5
8 primary ovarian insufficiency 3 11.5
9 primary ovarian insufficiency 4 11.5
10 primary ovarian insufficiency 5 11.5
11 primary ovarian insufficiency 6 11.5
12 primary ovarian insufficiency 7 11.5
13 primary ovarian insufficiency 8 11.5
14 primary ovarian insufficiency 10 11.5
15 primary ovarian insufficiency 11 11.5
16 primary ovarian insufficiency 12 11.5
17 primary ovarian insufficiency 13 11.5
18 primary ovarian insufficiency 14 11.5
19 primary ovarian insufficiency 15 11.5
20 primary ovarian insufficiency 16 11.5
21 primary ovarian insufficiency 17 11.5
22 autoimmune oophoritis 11.3
23 retinal dystrophy with or without extraocular anomalies 11.2
24 ovarian dysgenesis 1 11.2
25 premature ovarian failure 2a 11.2
26 premature ovarian failure 2b 11.2
27 premature ovarian failure 5 11.2
28 premature ovarian failure 6 11.2
29 premature ovarian failure 7 11.2
30 blepharophimosis, ptosis, and epicanthus inversus 11.2
31 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 11.1
32 osteosclerosis with ichthyosis and premature ovarian failure 11.0
33 perrault syndrome 3 10.9
34 perrault syndrome 4 10.9
35 premature ovarian failure 10 10.9
36 premature ovarian failure 8 10.9
37 premature ovarian failure 9 10.9
38 premature ovarian failure 11 10.9
39 premature ovarian failure 15 10.9
40 premature ovarian failure 17 10.9
41 premature ovarian failure 18 10.9
42 ataxia and polyneuropathy, adult-onset 10.5
43 tremor 10.5
44 fmr1 disorders 10.3
45 amenorrhea 10.2
46 alacrima, achalasia, and mental retardation syndrome 10.2
47 hypoparathyroidism 10.2
48 azoospermia 10.2
49 meier-gorlin syndrome 2 10.2 FMR1 AFF2
50 infertility 10.1

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

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 05-Mar-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 05-Mar-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 endocrine/exocrine gland MP:0005379 10 ADAMTS1 ADAMTS6 AFP ALMS1 BLK BRDT
2 homeostasis/metabolism MP:0005376 9.83 ADAMTS1 ADAMTS6 AFP ALMS1 BLK BRDT
3 reproductive system MP:0005389 9.44 ADAMTS1 AFP ALMS1 BLK BRDT CHEK2

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 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 4 28014-46-2
3
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
4
Lactitol Approved, Investigational Phase 4 585-86-4 157355
5
Norethindrone Approved Phase 4 68-22-4 6230
6
Lenograstim Approved, Investigational Phase 4 135968-09-1
7
Sargramostim Approved, Investigational Phase 4 123774-72-1, 83869-56-1
8
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 5785 54670067
9 Molgramostim Investigational Phase 4 99283-10-0
10 Hormone Antagonists Phase 4
11 Estradiol 17 beta-cypionate Phase 4
12 Estradiol 3-benzoate Phase 4
13 Estrogens Phase 4
14 Norethindrone Acetate Phase 4
15 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
16 Norinyl Phase 4
17
Testosterone undecanoate Approved, Investigational Phase 3 5949-44-0
18
Testosterone enanthate Approved Phase 3 315-37-7 9416
19
Methyltestosterone Approved Phase 3 58-18-4 6010
20
Testosterone Approved, Investigational Phase 3 58-22-0 6013
21
Oxandrolone Approved, Investigational Phase 3 53-39-4 5878
22
Metronidazole Approved Phase 3 443-48-1 4173
23
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
24
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
25
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 5881
26
Black cohosh Experimental Phase 3
27 Hormones Phase 3
28 Testosterone 17 beta-cypionate Phase 3
29 Anabolic Agents Phase 3
30 Antineoplastic Agents, Hormonal Phase 3
31 Contraceptives, Oral Phase 3
32 Contraceptive Agents, Male Phase 3
33 Androgens Phase 2, Phase 3
34 Immunologic Factors Phase 2, Phase 3
35 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
36 Adjuvants, Immunologic Phase 2, Phase 3
37 Epinephryl borate Phase 2, Phase 3
38 Phytoestrogens Phase 3
39
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
40
Goserelin Approved Phase 2 65807-02-5 47725 5311128
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 D3 Approved, Nutraceutical Phase 1 67-97-0 6221 5280795
45
Vitamin D Approved, Nutraceutical, Vet_approved Phase 1 1406-16-2
46 Estrogens, Conjugated (USP) Phase 1
47 Micronutrients Phase 1
48 Trace Elements Phase 1
49 Vitamins Phase 1
50 Calcium, Dietary Phase 1

Interventional clinical trials:

(show top 50) (show all 176)
# 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 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)
5 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
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 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
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 The Effect of Recombinant Human Growth Hormone Treatment on the Growth of Infants and Toddlers With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
19 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)
20 Humatrope Treatment to Final Height in Turner's Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
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 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
23 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
24 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®
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 Investigating Reactivation of Ovarian Function Following Autologous PRP Intra-ovarian Infusion in POI Patients Recruiting NCT04031456 Phase 2, Phase 3
30 4-step ASCOT in POI Women to Promote Follicular Rescue Recruiting NCT04475744 Phase 3 G-CSF treatment for Bone marrow derived stem cell Mobilization
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 A Randomized Double Blinded Trail of DHEA Supplementation for Treatment of Couples With Premature Ovarian Failure (POF). Terminated NCT00948857 Phase 2, Phase 3
33 Effect of Exercise and Exercise + Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 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 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 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 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
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 Phase II Study of GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
44 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure (POF) Completed NCT02151890 Phase 1, Phase 2
45 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
46 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
47 Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients Completed NCT04536467 Phase 2 Goserelin;Chemotherapy
48 Estrogen Effects on Cognition in Girls With Turner Syndrome Completed NCT00001253 Phase 2
49 A Double-Blind, Randomized, Placebo-Controlled Trial of the Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2 Growth Hormone (Humatrope)
50 Turner Syndrome: Hormone Replacement Therapy Completed NCT00013546 Phase 2 TMTDS

Search NIH Clinical Center for Premature Ovarian Failure 1

Inferred drug relations via UMLS 71 / 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, Thyroid
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 148)
# 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. 57 6
10208170 1999
2
Studies of FRAXA and FRAXE in women with premature ovarian failure. 57 6
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
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis. 57
17265046 2007
8
Premature ovarian failure in androgen receptor-deficient mice. 57
16373508 2006
9
FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. 57
16078053 2005
10
Premature ovarian failure associated with a small terminal Xq deletion: narrowing the POF1 region down to Xq27.2/Xq27.3-qter. 57
15811012 2005
11
A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28. 57
15280899 2004
12
Premature ovarian failure and FRAXA premutation: Positive correlation in a Brazilian survey. 57
15054835 2004
13
Dry eye signs and symptoms in women with premature ovarian failure. 57
14769589 2004
14
Genes and translocations involved in POF. 57
12210333 2002
15
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. 6
11445641 2001
16
Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure. 57
11129329 2000
17
Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? 57
10848491 2000
18
No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers. 57
10848495 2000
19
Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X. 57
10848496 2000
20
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. 57
10677300 2000
21
Microdeletions in FMR2 may be a significant cause of premature ovarian failure. 57
10528856 1999
22
Human leukocyte antigen-DQB1* genotypes encoding aspartate at position 57 are associated with 3beta-hydroxysteroid dehydrogenase autoimmunity in premature ovarian failure. 57
10084595 1999
23
A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. 57
9853851 1998
24
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
25
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
26
An analysis of Xq deletions. 57
8786087 1996
27
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 57
8334699 1993
28
Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. 57
8095365 1993
29
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
30
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. 6
1675488 1991
31
Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. 57
3600701 1987
32
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
33
Familial premature ovarian failure. 57
6517055 1984
34
X long-arm deletions. A review of non-mosaic cases studied with banding techniques. 57
6745919 1984
35
Evidence for a genetic factor in the etiology of premature ovarian failure. 57
6628716 1983
36
Premature gonadal failure. 57
7141005 1982
37
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
38
Hypergonadotropic hypogonadism in female patients with galactosemia. 57
6782485 1981
39
Three siblings with premature gonadal failure. 57
499583 1979
40
A new syndrome of amenorrhae in association with hypergonadotropism and apparently normal ovarian follicular apparatus. 57
5786709 1969
41
Premature ovarian failure. 57
6028784 1967
42
Human forkhead L2 represses key genes in granulosa cell differentiation including aromatase, P450scc, and cyclin D2. 54
19917504 2010
43
Variants of the BMP15 gene in a cohort of patients with premature ovarian failure. 54
20364024 2010
44
FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 54
20425835 2010
45
Premature ovarian failure and FMR1 gene mutations: an update. 54
20398889 2010
46
FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells. 54
20207836 2010
47
Mutation analysis of FOXL2 gene in Chinese patients with premature ovarian failure. 54
20222838 2010
48
Co-occurring diagnoses among FMR1 premutation allele carriers. 61
20059484 2010
49
Toward gene therapy of premature ovarian failure: intraovarian injection of adenovirus expressing human FSH receptor restores folliculogenesis in FSHR(-/-) FORKO mice. 54
20086006 2010
50
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity. 54
20209145 2010

Variations for Premature Ovarian Failure 1

ClinVar genetic disease variations for Premature Ovarian Failure 1:

6 (show top 50) (show all 276)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BLK GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1 copy number loss Pathogenic 221719 8:8131816-12249050
2 BRDT NM_001726.4(BRDT):c.1538del (p.Asp513fs) Deletion Pathogenic 929738 1:92446523-92446523 1:91980966-91980966
3 STAG3 NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter) SNV Pathogenic 929755 7:99795404-99795404 7:100197781-100197781
4 JAK2 NM_004972.4(JAK2):c.436G>A (p.Asp146Asn) SNV Pathogenic 929762 9:5044488-5044488 9:5044488-5044488
5 GALT NM_000155.4(GALT):c.667C>T (p.Arg223Cys) SNV Pathogenic 529225 rs111033750 9:34648433-34648433 9:34648436-34648436
6 FMR1 FMR1, (CGG)n REPEAT EXPANSION Microsatellite Pathogenic 9972
7 MCM9 NM_017696.2(MCM9):c.1732+2T>C SNV Pathogenic 156587 rs587777871 6:119149088-119149088 6:118827925-118827925
8 MCM9 NM_017696.2(MCM9):c.394C>T (p.Arg132Ter) SNV Pathogenic 156588 rs587777872 6:119245203-119245203 6:118924038-118924038
9 ALMS1 GRCh38/hg38 2p13.1(chr2:73601366-73673202)x1 copy number loss Pathogenic 221691 2:73828493-73900329 2:73601366-73673202
10 RAD54L NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp) SNV Pathogenic 929734 1:46736426-46736426 1:46270754-46270754
11 SGO2 NM_152524.6(SGO2):c.1451_1452GA[1] (p.Glu485fs) Microsatellite Pathogenic 375672 rs1057519602 2:201436519-201436520 2:200571796-200571797
12 FMR1 NM_002024.5(FMR1):c.-128_-126GGC(55_200) Microsatellite Pathogenic 623467 X:146993570-146993572 X:147912052-147912054
13 HTR2C GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Pathogenic 221776 X:99931059-120328627
14 PMM2 NM_000303.3(PMM2):c.323C>T (p.Ala108Val) SNV Pathogenic 92800 rs200503569 16:8900240-8900240 16:8806383-8806383
15 CHEK2 NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) SNV Pathogenic 141818 rs200928781 22:29091788-29091788 22:28695800-28695800
16 NTRK1 NM_001007792.1(NTRK1):c.2011G>A (p.Glu671Lys) SNV Likely pathogenic 526718 rs747855434 1:156849863-156849863 1:156880071-156880071
17 MECOM NM_004991.4(MECOM):c.3019G>A (p.Gly1007Ser) SNV Likely pathogenic 929746 3:168812864-168812864 3:169095076-169095076
18 WT1 NM_024426.6(WT1):c.1021A>G (p.Ser341Gly) SNV Likely pathogenic 929769 11:32421586-32421586 11:32400040-32400040
19 MIR4713HG NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) SNV Likely pathogenic 887524 15:51520044-51520044 15:51227847-51227847
20 FANCA NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) SNV Likely pathogenic 929781 16:89809308-89809308 16:89742900-89742900
21 RAD54L NM_003579.4(RAD54L):c.1883A>C (p.Glu628Ala) SNV Likely pathogenic 929735 1:46743502-46743502 1:46277830-46277830
22 RAD54L NM_003579.4(RAD54L):c.1900C>T (p.Arg634Cys) SNV Likely pathogenic 929736 1:46743519-46743519 1:46277847-46277847
23 DMRT3 NM_021240.4(DMRT3):c.1327C>T (p.Pro443Ser) SNV Likely pathogenic 929761 9:990913-990913 9:990913-990913
24 RAD51C NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly) SNV Likely pathogenic 142585 rs587782565 17:56811542-56811542 17:58734181-58734181
25 MLH3 NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg) SNV Likely pathogenic 836477 14:75514972-75514972 14:75048269-75048269
26 RYR3 NM_001036.5(RYR3):c.3092A>T (p.Lys1031Met) SNV Likely pathogenic 461901 rs753104655 15:33926851-33926851 15:33634650-33634650
27 BNC1 NM_001301206.2(BNC1):c.2252C>T (p.Thr751Ile) SNV Likely pathogenic 929778 15:83931730-83931730 15:83262978-83262978
28 POLG NM_002693.3(POLG):c.1685G>A (p.Arg562Gln) SNV Likely pathogenic 929779 15:89869870-89869870 15:89326639-89326639
29 SH2B1 NM_015503.2(SH2B1):c.1846T>C (p.Ser616Pro) SNV Likely pathogenic 929780 16:28883975-28883975 16:28872654-28872654
30 SIRT6 NM_016539.4(SIRT6):c.362G>A (p.Arg121His) SNV Likely pathogenic 929782 19:4179116-4179116 19:4179119-4179119
31 ADAMTS1 NM_006988.5(ADAMTS1):c.1304C>A (p.Ser435Tyr) SNV Likely pathogenic 929783 21:28213391-28213391 21:26841072-26841072
32 THBS1 NM_003246.4(THBS1):c.1060C>T (p.Pro354Ser) SNV Likely pathogenic 929776 15:39877704-39877704 15:39585503-39585503
33 BRWD1 NM_033656.4(BRWD1):c.656G>A (p.Arg219His) SNV Likely pathogenic 929785 21:40665912-40665912 21:39293986-39293986
34 AFF2 NM_002025.4(AFF2):c.3203C>G (p.Ser1068Trp) SNV Likely pathogenic 929787 X:148048609-148048609 X:148967079-148967079
35 ZNF462 NM_021224.6(ZNF462):c.3515C>G (p.Pro1172Arg) SNV Likely pathogenic 929764 9:109689708-109689708 9:106927427-106927427
36 CYP17A1 NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly) SNV Likely pathogenic 929767 10:104594564-104594564 10:102834807-102834807
37 NOBOX NM_001080413.3(NOBOX):c.1440G>C (p.Lys480Asn) SNV Likely pathogenic 929756 7:144096072-144096072 7:144398979-144398979
38 NOS3 NM_000603.5(NOS3):c.172C>T (p.Pro58Ser) SNV Likely pathogenic 929757 7:150692304-150692304 7:150995216-150995216
39 NOS3 NM_000603.5(NOS3):c.505G>A (p.Glu169Lys) SNV Likely pathogenic 929758 7:150693936-150693936 7:150996848-150996848
40 ATG9B NM_001317056.1(ATG9B):c.1480G>T (p.Glu494Ter) SNV Likely pathogenic 929759 7:150715945-150715945 7:151018858-151018858
41 IGF2R NM_000876.4(IGF2R):c.451C>T (p.His151Tyr) SNV Likely pathogenic 929753 6:160431755-160431755 6:160010723-160010723
42 POR NM_000941.3(POR):c.1588C>T (p.Pro530Ser) SNV Likely pathogenic 929754 7:75615086-75615086 7:75985768-75985768
43 KHDRBS1 NM_006559.3(KHDRBS1):c.1262C>T (p.Pro421Leu) SNV Likely pathogenic 929733 1:32508155-32508155 1:32042554-32042554
44 ADAMTSL3 GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1 copy number loss Likely pathogenic 221753 15:83213963-84811815
45 NOTCH2 NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln) SNV Likely pathogenic 929740 1:120464967-120464967 1:119922344-119922344
46 NR5A2 NM_205860.3(NR5A2):c.681T>G (p.His227Gln) SNV Likely pathogenic 929741 1:200017517-200017517 1:200048389-200048389
47 DPPA2 NM_138815.4(DPPA2):c.833T>C (p.Leu278Ser) SNV Likely pathogenic 929745 3:109023343-109023343 3:109304496-109304496
48 KDR NM_002253.3(KDR):c.724C>T (p.Leu242Phe) SNV Likely pathogenic 134612 rs587778428 4:55980367-55980367 4:55114200-55114200
49 AFP NM_001134.3(AFP):c.1822G>A (p.Gly608Arg) SNV Likely pathogenic 929747 4:74320989-74320989 4:73455272-73455272
50 PRLR NM_000949.7(PRLR):c.851T>G (p.Leu284Trp) SNV Likely pathogenic 929748 5:35068322-35068322 5:35068220-35068220

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 ADAMTSL3 ADAMTS6 ADAMTS1
2
Show member pathways
10.68 ADAMTSL3 ADAMTS6 ADAMTS1

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 cellular response to DNA damage stimulus GO:0006974 9.55 RAD54L MCM9 FMR1 CHEK2 BLK
2 ovulation from ovarian follicle GO:0001542 8.96 AFP ADAMTS1
3 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 metalloendopeptidase activity GO:0004222 9.13 ADAMTSL3 ADAMTS6 ADAMTS1
2 G-quadruplex RNA binding GO:0002151 8.62 FMR1 AFF2

Sources for Premature Ovarian Failure 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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