MCID: PRM094
MIFTS: 24

Premature Ovarian Failure 5

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 5

MalaCards integrated aliases for Premature Ovarian Failure 5:

Name: Premature Ovarian Failure 5 54 24 71 29 13 69
Pof5 71

Characteristics:

OMIM:

54
Miscellaneous:
phenotypic variability, intrafamilial

Inheritance:
autosomal dominant


HPO:

32
premature ovarian failure 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 611548
MedGen 40 C1969060
MeSH 42 D016649

Summaries for Premature Ovarian Failure 5

UniProtKB/Swiss-Prot : 71 Premature ovarian failure 5: 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 5, is also known as pof5, and has symptoms including secondary amenorrhea, primary amenorrhea and premature ovarian insufficiency. An important gene associated with Premature Ovarian Failure 5 is NOBOX (NOBOX Oogenesis Homeobox). The drugs Cyclophosphamide and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include ovary, testes and bone.

Description from OMIM: 611548

Related Diseases for Premature Ovarian Failure 5

Symptoms & Phenotypes for Premature Ovarian Failure 5

Symptoms via clinical synopsis from OMIM:

54

Endocrine Features:
low anti-mullerian hormone (amh) level
low inhibin b level
low estradiol level
elevated luteinizing hormone (lh) level
elevated follicle-stimulating hormone (fsh) level

Genitourinary- Internal Genitalia Female:
absence of follicles on histology (in some patients)
primordial or primary follicles on histology (in some patients)
delayed or absent puberty (in some patients)
ovaries normal to small by ultrasound
reduced or absent follicles by ultrasound
more

Clinical features from OMIM:

611548

Human phenotypes related to Premature Ovarian Failure 5:

32
id Description HPO Frequency HPO Source Accession
1 secondary amenorrhea 32 hallmark (90%) HP:0000869
2 primary amenorrhea 32 occasional (7.5%) HP:0000786
3 premature ovarian insufficiency 32 HP:0008209

Drugs & Therapeutics for Premature Ovarian Failure 5

Drugs for Premature Ovarian Failure 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4,Phase 3 50-18-0, 6055-19-2 2907
2
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
3
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 50-28-2 5757
4
Doxil Approved June 1999 Phase 4 31703
5 Alkylating Agents Phase 4,Phase 3
6 Anti-Bacterial Agents Phase 4
7 Antibiotics, Antitubercular Phase 4
8 Antirheumatic Agents Phase 4,Phase 3
9 Immunosuppressive Agents Phase 4,Phase 3
10 Topoisomerase Inhibitors Phase 4
11 Estrogens Phase 4,Phase 3,Phase 2
12 Hormone Antagonists Phase 4,Phase 2,Phase 3
13 Hormones Phase 4,Phase 2,Phase 3
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
15 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2
16 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2
17 Estradiol valerate Phase 4,Phase 3,Phase 2 979-32-8
18 Polyestradiol phosphate Phase 4,Phase 3,Phase 2
19 Contraceptive Agents Phase 4,Phase 2,Phase 3
20
Norethindrone Approved Phase 2, Phase 3 68-22-4 6230
21
Goserelin Approved Phase 3 65807-02-5 47725 5311128
22
Progesterone Approved, Vet_approved Phase 3,Phase 2 57-83-0 5994
23
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
24
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
25 Antineoplastic Agents, Hormonal Phase 2, Phase 3
26 Contraceptives, Oral Phase 2, Phase 3
27 Deslorelin Phase 2, Phase 3
28 Luteolytic Agents Phase 2, Phase 3
29 Norethindrone acetate Phase 2, Phase 3
30 Triptorelin Pamoate Phase 2, Phase 3
31 Contraceptive Agents, Male Phase 3,Phase 2
32
Medroxyprogesterone Phase 3,Phase 2 520-85-4 10631
33 Estrogens, Conjugated (USP) Phase 2
34 Progestins Phase 2
35
Epinephrine Approved, Vet_approved 51-43-4 5816
36 Racepinephrine Approved
37
Menthol Approved 2216-51-5 16666
38 Epinephryl borate
39 Olive Nutraceutical

Interventional clinical trials:

(show all 28)

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 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
3 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
4 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
5 Efficiency of Gonadotropin-releasing Hormone (GnRH) Agonist in Preventing Chemotherapy Induced Ovarian Failure Completed NCT01160315 Phase 2, Phase 3 Triptorelin;Norethisterone acetate
6 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
7 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
8 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
9 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
10 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
11 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
12 Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) Recruiting NCT02603744 Phase 1, Phase 2
13 Inovium Ovarian Rejuvenation Trials Recruiting NCT03178695 Phase 1
14 A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Insufficiency Patients Recruiting NCT02912104 Phase 1
15 Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome Unknown status NCT00625001
16 Genetic Analysis of Familial Cases of Premature Ovarian Failure Completed NCT01177891
17 Feasibility Study for Development of an Early Test for Ovarian Failure Completed NCT00006156 Drug: FSH
18 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
19 Turner Syndrome: Genotype and Phenotype Completed NCT00006334
20 Long Term Follow up Study of Predictive Markers in GHD and TS Children Completed NCT00699855
21 Effect of Growth Hormone on Early Brain Development in Girls With Turner Syndrome Completed NCT01367834 somatotropin
22 Single Center, Prospective Controlled Pilot Study of the OvaPrime Procedure Recruiting NCT03021915
23 Assessing Fertility Potential in Female Cancer Survivors Recruiting NCT01143844
24 A Global Assessment of Medical, Emotional and Reproductive Concerns in Gestational Trophoblastic Disease Survivors Active, not recruiting NCT00706875
25 Ovarian Laparoscopic In Vivo Activation of Ovary for Premature Ovarian Insufficiency Not yet recruiting NCT03034616
26 Preimplantation Genetic Screening in Patients With Male Factor Infertility Not yet recruiting NCT02941965
27 The Natural History of Reproductive and Overall Health in Girls and Women With a Pre-Mutation in the FMR1 Gene; Creation of a Patient Registry Terminated NCT01187524
28 The Use of DHEA in Women With Premature Ovarian Failure Withdrawn NCT01129947 Early Phase 1 DHEA

Search NIH Clinical Center for Premature Ovarian Failure 5

Genetic Tests for Premature Ovarian Failure 5

Genetic tests related to Premature Ovarian Failure 5:

id Genetic test Affiliating Genes
1 Premature Ovarian Failure 5 29 24 NOBOX

Anatomical Context for Premature Ovarian Failure 5

MalaCards organs/tissues related to Premature Ovarian Failure 5:

39
Ovary, Testes, Bone, Brain

Publications for Premature Ovarian Failure 5

Variations for Premature Ovarian Failure 5

UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 5:

71
id Symbol AA change Variation ID SNP ID
1 NOBOX p.Arg355His VAR_036636 rs201947677
2 NOBOX p.Ser342Thr VAR_066014 rs193303103
3 NOBOX p.Val350Leu VAR_066015 rs193303104

ClinVar genetic disease variations for Premature Ovarian Failure 5:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOBOX NM_001080413.3(NOBOX): c.1064G> A (p.Arg355His) single nucleotide variant Pathogenic rs201947677 GRCh37 Chromosome 7, 144096940: 144096940
2 NOBOX NM_001080413.3(NOBOX): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic rs193303102 GRCh38 Chromosome 7, 144400250: 144400250
3 NOBOX NM_001080413.3(NOBOX): c.271G> T (p.Gly91Trp) single nucleotide variant Pathogenic rs77587352 GRCh38 Chromosome 7, 144401890: 144401890
4 NOBOX NM_001080413.3(NOBOX): c.1025G> C (p.Ser342Thr) single nucleotide variant Pathogenic rs193303103 GRCh38 Chromosome 7, 144400132: 144400132
5 NOBOX NM_001080413.3(NOBOX): c.1048G> T (p.Val350Leu) single nucleotide variant Pathogenic rs193303104 GRCh38 Chromosome 7, 144399863: 144399863

Expression for Premature Ovarian Failure 5

Search GEO for disease gene expression data for Premature Ovarian Failure 5.

Pathways for Premature Ovarian Failure 5

GO Terms for Premature Ovarian Failure 5

Sources for Premature Ovarian Failure 5

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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