MCID: PRM089
MIFTS: 26

Premature Ovarian Failure 3

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 3

MalaCards integrated aliases for Premature Ovarian Failure 3:

Name: Premature Ovarian Failure 3 54 24 71 29 13 69
Pof3 71

Characteristics:

OMIM:

54
Miscellaneous:
reduced penetrance in 1 family
based on report of 3 unrelated patients (last curated april 2017)
variable age at cessation of menses

Inheritance:
autosomal dominant


HPO:

32
premature ovarian failure 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608996
MedGen 40 C1837008
MeSH 42 D016649
SNOMED-CT via HPO 65 263681008 373717006

Summaries for Premature Ovarian Failure 3

UniProtKB/Swiss-Prot : 71 Premature ovarian failure 3: 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.

MalaCards based summary : Premature Ovarian Failure 3, is also known as pof3, and has symptoms including premature ovarian insufficiency An important gene associated with Premature Ovarian Failure 3 is FOXL2 (Forkhead Box L2). The drugs Cyclophosphamide and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and ovary.

Description from OMIM: 608996

Related Diseases for Premature Ovarian Failure 3

Symptoms & Phenotypes for Premature Ovarian Failure 3

Symptoms via clinical synopsis from OMIM:

54

Endocrine Features:
low estradiol (e2) levels
high luteinizing hormone (lh) levels
high follicle stimulating hormone (fsh) levels
premature ovarian failure

Genitourinary- Internal Genitalia Female:
ovarian failure, premature
secondary amenorrhea
follicles small or not visible
small ovaries
hypoplastic uterus


Clinical features from OMIM:

608996

Human phenotypes related to Premature Ovarian Failure 3:

32
id Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 32 HP:0008209

Drugs & Therapeutics for Premature Ovarian Failure 3

Drugs for Premature Ovarian Failure 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 148)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2 50-18-0, 6055-19-2 2907
2
Doxorubicin Approved, Investigational Phase 4,Phase 3 23214-92-8 31703
3
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 2 57-83-0 5994
4
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757
5
Ethinyl Estradiol Approved Phase 4,Phase 3 57-63-6 5991
6
Norethindrone Approved Phase 4,Phase 2,Phase 3 68-22-4 6230
7
Leuprolide Approved, Investigational Phase 4,Phase 2 53714-56-0 3911 657181
8
Doxil Approved June 1999 Phase 4,Phase 3 31703
9
Lactitol Investigational Phase 4 585-86-4 3871
10 Alkylating Agents Phase 4,Phase 3,Phase 2
11 Anti-Bacterial Agents Phase 4,Phase 3
12 Antibiotics, Antitubercular Phase 4,Phase 3
13 Antirheumatic Agents Phase 4,Phase 3,Phase 2
14 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
15 Topoisomerase Inhibitors Phase 4,Phase 3
16 Estrogens Phase 4,Phase 3,Phase 2,Phase 1
17 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
18 Hormones Phase 4,Phase 2,Phase 3,Phase 1
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
20 Contraceptive Agents Phase 4,Phase 2,Phase 3,Phase 1
21 Contraceptives, Oral Phase 4,Phase 2,Phase 3
22 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1
23 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1
24 Estradiol valerate Phase 4,Phase 3,Phase 2,Phase 1 979-32-8
25 Norethindrone acetate Phase 4,Phase 2,Phase 3
26 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
27 Norinyl Phase 4
28 Polyestradiol phosphate Phase 4,Phase 3,Phase 2,Phase 1
29 Progestins Phase 4,Phase 3,Phase 2
30 Deslorelin Phase 4,Phase 2,Phase 3
31
Testosterone Approved, Investigational Phase 3,Phase 2 58-22-0 6013
32
Goserelin Approved Phase 3 65807-02-5 47725 5311128
33
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
34
Epirubicin Approved Phase 3 56420-45-2 41867
35
Fluorouracil Approved Phase 3 51-21-8 3385
36
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
37
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
38
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
39
Methyltestosterone Approved Phase 3 58-18-4 6010
40
Oxandrolone Approved, Investigational Phase 3 53-39-4 5878
41
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
42
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
43
Methylprednisolone Approved, Vet_approved Phase 3,Phase 2 83-43-2 6741
44
Prednisolone Approved, Vet_approved Phase 3,Phase 2 50-24-8 5755
45
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
46
Procarbazine Approved Phase 3 671-16-9 4915
47
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
48
Norgestimate Approved Phase 3 35189-28-7 6540478
49
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
50 Racepinephrine Approved Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 63)

id Name Status NCT ID Phase Drugs
1 Pharmacogenetics as a Predictor of Toxicity in Pre-Menopausal Women Receiving Doxorubicin and Cyclophosphamide in Early Breast Cancer Unknown status NCT00352872 Phase 4
2 Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure Completed NCT00732693 Phase 4 Ethinylestradiol / Norethisterone;Estradiol / Progesterone
3 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
4 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
5 Effect of Cetrorelex Acetate on Ovarian Function in Women Undergoing Chemotherapy Withdrawn NCT00507780 Phase 4 GnRH antagonist
6 Efficiency of Gonadotropin-releasing Hormone (GnRH) Agonist in Preventing Chemotherapy Induced Ovarian Failure Completed NCT01160315 Phase 2, Phase 3 Triptorelin;Norethisterone acetate
7 Goserelin in Preventing Early Menopause in Premenopausal Women Undergoing Chemotherapy for Stage I, Stage II, or Stage III Breast Cancer Completed NCT00427245 Phase 3 cyclophosphamide;goserelin acetate
8 Administration During Chemotherapy to Reduce Ovarian Failure Following Chemotherapy in Early Stage, Hormone-Receptor Negative Breast Cancer Completed NCT01530607 Phase 3 Standard cyclophosphamide;Goserelin (Zoladex)
9 S0230 Goserelin in Preventing Ovarian Failure in Women Receiving Chemotherapy for Breast Cancer Completed NCT00068601 Phase 3 cyclophosphamide;goserelin acetate
10 Triptorelin in Preventing Early Menopause in Premenopausal Women Who Are Receiving Chemotherapy for Stage I, Stage II, or Stage III Breast Cancer That Has Been Removed By Surgery Completed NCT00311636 Phase 3 cyclophosphamide;docetaxel;doxorubicin hydrochloride;epirubicin hydrochloride;fluorouracil;methotrexate;paclitaxel;triptorelin
11 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
12 Pilot Study Comparing Hypnotherapy and Gabapentin for Hot Flashes. Completed NCT00711529 Phase 3 gabapentin
13 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
14 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
15 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
16 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
17 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
18 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
19 Combination Chemotherapy in Treating Young Patients With Hodgkin's Lymphoma Completed NCT00433459 Phase 3 cyclophosphamide;dacarbazine;prednisolone;prednisone;procarbazine hydrochloride;vincristine sulfate
20 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
21 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Active, not recruiting NCT01813630 Phase 3 DA-3002;Genotropin®
22 Effect of Exercise and Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
23 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
24 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
25 Goserelin Acetate Study for Ovarian Function in Patients With Primary Breast Cancer Terminated NCT00429403 Phase 3 Goserelin
26 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
27 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
28 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
29 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
30 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
31 Bioidentical 'Natural' Hormone Evaluation in Early Menopause Completed NCT00302731 Phase 2 Prempro, premarin, provera conjugated estrogens, medroxyprogesterone acetate;Estradiol , estriol , progesterone;estradiol,progesterone;estriol, progesterone
32 A Study of PEG-somatropin Injection to Treat Children of Turner Syndrome Recruiting NCT03189160 Phase 2
33 Rituximab and Belimumab for Lupus Nephritis Active, not recruiting NCT02260934 Phase 2 Cyclophosphamide;Prednisone;Methylprednisolone;Diphenhydramine;Acetaminophen;Cyclophosphamide;Prednisone;Methylprednisolone;Diphenhydramine;Acetaminophen
34 Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure Withdrawn NCT00370019 Phase 2 Estradiol/Medroxyprogesterone acetate
35 A Study To Compare The Amount Of Premarin Components That Is Absorbed Into The Blood Of Japanese Healthy Postmenopausal Women Following Oral Administration Of Two Different Tablets Of Premarin Under Fast and Fed Conditions. Completed NCT01436513 Phase 1 Premarin reference tablet (fasted);Premarin new tablet (fasted);Premarin reference tablet (fed);Premarin new tablet (fed)
36 Inovium Ovarian Rejuvenation Trials Recruiting NCT03178695 Phase 1
37 Deep Reading as a Contemplative Practice for Women With Primary Ovarian Insufficiency Enrolling by invitation NCT02181595 Phase 1
38 Initiating Transdermal Estradiol Therapy in Turner's Syndrome Terminated NCT00870220 Phase 1 Norditropin, Menostar 14mcg patch, Vivelle dot 25mcg patch
39 In Vitro Activation of Dormant Follicles for Patients With Primary Ovarian Insufficiency Unknown status NCT02322060
40 Aortic Dimensions in Turner Syndrome Unknown status NCT00624949
41 Prevention of Ovarian Function Damage by a GnRH Analogue During Chemotherapy in Hodgkin Lymphoma Patients Completed NCT01764230 triptorelin
42 Feasibility Study for Development of an Early Test for Ovarian Failure Completed NCT00006156 Drug: FSH
43 The Clinical and Biochemical Characteristics in Women With Different Menstrual Pattern Completed NCT01604603
44 Optimizing Body Composition & Health After Breast Cancer Completed NCT00659906
45 Turner Syndrome: Genotype and Phenotype Completed NCT00006334
46 D3-GHR Polymorphism and Turner Syndrome Completed NCT00443144 recombinant human growth hormone
47 Late Effects of Treatment for Sarcomas in Children Completed NCT00006515
48 Effects of Phytoestrogen-rich Diets on Bone Turnover in Postmenopausal Women Completed NCT00301353 Isoflavones-enriched foods
49 Long Term Follow up Study of Predictive Markers in GHD and TS Children Completed NCT00699855
50 Early Menopause Hormone Treatment and Cognition Completed NCT01046643 Estradiol (E2);Progesterone (P10) x90;Progesterone (P10) x10

Search NIH Clinical Center for Premature Ovarian Failure 3

Genetic Tests for Premature Ovarian Failure 3

Genetic tests related to Premature Ovarian Failure 3:

id Genetic test Affiliating Genes
1 Premature Ovarian Failure 3 29 24 FOXL2

Anatomical Context for Premature Ovarian Failure 3

MalaCards organs/tissues related to Premature Ovarian Failure 3:

39
Testes, Bone, Ovary, Skin, Uterus

Publications for Premature Ovarian Failure 3

Articles related to Premature Ovarian Failure 3:

id Title Authors Year
1
Premature ovarian failure 3 years after menarche in a 16-year-old girl following human papillomavirus vaccination. ( 23035167 )
2012

Variations for Premature Ovarian Failure 3

UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 3:

71
id Symbol AA change Variation ID SNP ID
1 FOXL2 p.Gly187Asp VAR_015181 rs121908359
2 FOXL2 p.Tyr258Asn VAR_021204 rs28937885

ClinVar genetic disease variations for Premature Ovarian Failure 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FOXL2 FOXL2, 30-BP DEL, NT898 deletion Pathogenic
2 FOXL2 NM_023067.3(FOXL2): c.772T> A (p.Tyr258Asn) single nucleotide variant Pathogenic rs28937885 GRCh37 Chromosome 3, 138664793: 138664793
3 FOXL2 NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp) single nucleotide variant Pathogenic rs121908359 GRCh37 Chromosome 3, 138665005: 138665005

Expression for Premature Ovarian Failure 3

Search GEO for disease gene expression data for Premature Ovarian Failure 3.

Pathways for Premature Ovarian Failure 3

GO Terms for Premature Ovarian Failure 3

Sources for Premature Ovarian Failure 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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