POF3
MCID: PRM089
MIFTS: 26

Premature Ovarian Failure 3 (POF3)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 3

MalaCards integrated aliases for Premature Ovarian Failure 3:

Name: Premature Ovarian Failure 3 58 76 30 13 6 74
Pof3 58 76
Ovarian Failure, Premature, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
premature ovarian failure 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 608996
MeSH 45 D016649
MedGen 43 C1837008
UMLS 74 C1837008

Summaries for Premature Ovarian Failure 3

UniProtKB/Swiss-Prot : 76 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, also known as pof3, is related to premature ovarian failure 1. An important gene associated with Premature Ovarian Failure 3 is FOXL2 (Forkhead Box L2). The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include uterus, ovary and bone, and related phenotypes are premature ovarian insufficiency and secondary amenorrhea

Description from OMIM: 608996

Related Diseases for Premature Ovarian Failure 3

Symptoms & Phenotypes for Premature Ovarian Failure 3

Human phenotypes related to Premature Ovarian Failure 3:

33
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 33 HP:0008209
2 secondary amenorrhea 33 HP:0000869
3 hypoplasia of the uterus 33 HP:0000013

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
secondary amenorrhea
hypoplastic uterus
ovarian failure, premature
small ovaries
follicles small or not visible

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

Clinical features from OMIM:

608996

Drugs & Therapeutics for Premature Ovarian Failure 3

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 1 28014-46-2
3
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
4 Estradiol 3-benzoate Phase 1
5 Calcium, Dietary Phase 1
6 Estradiol 17 beta-cypionate Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inovium Ovarian Rejuvenation Trials Completed NCT03178695 Phase 1

Search NIH Clinical Center for Premature Ovarian Failure 3

Genetic Tests for Premature Ovarian Failure 3

Genetic tests related to Premature Ovarian Failure 3:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 3 30 FOXL2

Anatomical Context for Premature Ovarian Failure 3

MalaCards organs/tissues related to Premature Ovarian Failure 3:

42
Uterus, Ovary, Bone

Publications for Premature Ovarian Failure 3

Articles related to Premature Ovarian Failure 3:

# Title Authors Year
1
F-box proteins Pof3 and Pof1 regulate Wee1 degradation and mitotic entry in fission yeast. ( 29361524 )
2018
2
Premature ovarian failure 3 years after menarche in a 16-year-old girl following human papillomavirus vaccination. ( 23035167 )
2012
3
Hsk1- and SCF(Pof3)-dependent proteolysis of S. pombe Ams2 ensures histone homeostasis and centromere function. ( 20230746 )
2010
4
Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2. ( 19429596 )
2009
5
Fission yeast Mcl1 interacts with SCF(Pof3) and is required for centromere formation. ( 16997270 )
2006
6
Identification of novel mutations in FOXL2 associated with premature ovarian failure. ( 12149404 )
2002
7
Fission yeast F-box protein Pof3 is required for genome integrity and telomere function. ( 11809834 )
2002
8
FOXL2 mutation screening in a large panel of POF patients and XX males. ( 12161610 )
2002

Variations for Premature Ovarian Failure 3

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

76
# 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
# 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.772T> A (p.Tyr258Asn) single nucleotide variant Pathogenic rs28937885 GRCh38 Chromosome 3, 138945951: 138945951
4 FOXL2 NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp) single nucleotide variant Pathogenic rs121908359 GRCh37 Chromosome 3, 138665005: 138665005
5 FOXL2 NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp) single nucleotide variant Pathogenic rs121908359 GRCh38 Chromosome 3, 138946163: 138946163
6 FOXL2 NM_023067.3(FOXL2): c.988_989insG (p.Ala330Glyfs) insertion Pathogenic rs1553752779 GRCh37 Chromosome 3, 138664576: 138664577
7 FOXL2 NM_023067.3(FOXL2): c.988_989insG (p.Ala330Glyfs) insertion Pathogenic rs1553752779 GRCh38 Chromosome 3, 138945734: 138945735
8 FOXL2 NM_023067.3(FOXL2): c.462_468delGCCGCCG (p.Pro156Argfs) deletion Pathogenic rs1553752894 GRCh37 Chromosome 3, 138665097: 138665103
9 FOXL2 NM_023067.3(FOXL2): c.462_468delGCCGCCG (p.Pro156Argfs) deletion Pathogenic rs1553752894 GRCh38 Chromosome 3, 138946255: 138946261

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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