POF5
MCID: PRM094
MIFTS: 21

Premature Ovarian Failure 5 (POF5) malady

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 5

Aliases & Descriptions for Premature Ovarian Failure 5:

Name: Premature Ovarian Failure 5 54 24 66 29 13 69
Pof5 66

Characteristics:

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 : 66 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, also known as pof5, is related to premature ovarian failure 1, and has symptoms including primary amenorrhea, secondary amenorrhea and premature ovarian failure. 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.

Description from OMIM: 611548

Related Diseases for Premature Ovarian Failure 5

Diseases in the Premature Ovarian Failure family:

Premature Ovarian Failure 9 Premature Ovarian Failure 6
Premature Ovarian Failure 3 Premature Ovarian Failure 8
Premature Ovarian Failure 5 Premature Ovarian Failure 7
Premature Ovarian Failure 10 Premature Ovarian Failure 2b
Premature Ovarian Failure 1

Diseases related to Premature Ovarian Failure 5 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 premature ovarian failure 1 10.9

Symptoms & Phenotypes for Premature Ovarian Failure 5

Symptoms by clinical synopsis from OMIM:

611548

Clinical features from OMIM:

611548

Human phenotypes related to Premature Ovarian Failure 5:

32
id Description HPO Frequency HPO Source Accession
1 primary amenorrhea 32 HP:0000786
2 secondary amenorrhea 32 HP:0000869
3 premature ovarian failure 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 43)
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 53477783
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 Antineoplastic Agents, Alkylating Phase 4,Phase 3
9 Antirheumatic Agents Phase 4,Phase 3
10 Immunosuppressive Agents Phase 4,Phase 3
11 Topoisomerase Inhibitors Phase 4
12 Estrogens Phase 4,Phase 3,Phase 2
13 Hormone Antagonists Phase 4,Phase 2,Phase 3
14 Hormones Phase 4,Phase 2,Phase 3
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
16 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2
17 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2
18 Estradiol valerate Phase 4,Phase 3,Phase 2 979-32-8
19 Polyestradiol phosphate Phase 4,Phase 3,Phase 2
20 Contraceptive Agents Phase 4,Phase 2,Phase 3
21 Hypoglycemic Agents Phase 4
22 insulin Phase 4
23 Insulin, Globin Zinc Phase 4
24
Norethindrone Approved Phase 2, Phase 3 68-22-4 6230
25
Goserelin Approved Phase 3 65807-02-5 47725 5311128
26
Progesterone Approved, Vet_approved Phase 3,Phase 2 57-83-0 5994
27
Ethinyl Estradiol Approved Phase 3,Phase 2 57-63-6 5991
28
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
29 Antineoplastic Agents, Hormonal Phase 2, Phase 3
30 Contraceptives, Oral Phase 2, Phase 3
31 Deslorelin Phase 2, Phase 3
32 Luteolytic Agents Phase 2, Phase 3
33 Norethindrone acetate Phase 2, Phase 3
34 Triptorelin Pamoate Phase 2, Phase 3
35 Contraceptive Agents, Male Phase 3,Phase 2
36
Medroxyprogesterone Phase 3,Phase 2 520-85-4 10631
37 Estrogens, Conjugated (USP) Phase 2
38 Progestins Phase 2
39
Epinephrine Approved, Vet_approved 51-43-4 5816
40
Menthol Approved 2216-51-5 16666
41 Epinephryl borate
42 Racepinephrine
43 Olive Nutraceutical

Interventional clinical trials:

(show all 35)
id Name Status NCT ID Phase
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
3 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4
4 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4
5 Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature Terminated NCT00121875 Phase 4
6 Efficiency of Gonadotropin-releasing Hormone (GnRH) Agonist in Preventing Chemotherapy Induced Ovarian Failure Completed NCT01160315 Phase 2, Phase 3
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
8 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3
9 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3
10 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3
11 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
12 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
13 Bioidentical 'Natural' Hormone Evaluation in Early Menopause Completed NCT00302731 Phase 2
14 Effect of Biosynthetic Growth Hormone and/or Ethinyl Estradiol on Adult Height in Patients With Turner Syndrome Completed NCT00001221 Phase 2
15 Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) Recruiting NCT02603744 Phase 1, Phase 2
16 A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Insufficiency Patients Recruiting NCT02912104 Phase 1
17 Inovium Ovarian Rejuvenation Trials Not yet recruiting NCT03178695 Phase 1
18 Long Term Follow-up of Bone Mineral Density in Hormone Treated Turner Syndrome Unknown status NCT00625001
19 Genetic Analysis of Familial Cases of Premature Ovarian Failure Completed NCT01177891
20 Feasibility Study for Development of an Early Test for Ovarian Failure Completed NCT00006156
21 Pregnancy Chances in Classic Galactosemia Completed NCT02091128
22 Turner Syndrome: Genotype and Phenotype Completed NCT00006334
23 Long Term Follow up Study of Predictive Markers in GHD and TS Children Completed NCT00699855
24 Effect of Growth Hormone on Early Brain Development in Girls With Turner Syndrome Completed NCT01367834
25 Observational Study of Somatropin Treatment in Children Completed NCT01088412
26 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
27 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
28 Single Center, Prospective Controlled Pilot Study of the OvaPrime Procedure Recruiting NCT03021915
29 Assessing Fertility Potential in Female Cancer Survivors Recruiting NCT01143844
30 The Clinical Study of Sex Chromosome Variants Recruiting NCT01661010
31 A Global Assessment of Medical, Emotional and Reproductive Concerns in Gestational Trophoblastic Disease Survivors Active, not recruiting NCT00706875
32 Ovarian Laparoscopic In Vivo Activation of Ovary for Premature Ovarian Insufficiency Not yet recruiting NCT03034616
33 Preimplantation Genetic Screening in Patients With Male Factor Infertility Not yet recruiting NCT02941965
34 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
35 The Use of DHEA in Women With Premature Ovarian Failure Withdrawn NCT01129947 Early Phase 1

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

Publications for Premature Ovarian Failure 5

Variations for Premature Ovarian Failure 5

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

66
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....