POF3
MCID: PRM089
MIFTS: 24

Premature Ovarian Failure 3 (POF3)

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

Aliases & Classifications for Premature Ovarian Failure 3

MalaCards integrated aliases for Premature Ovarian Failure 3:

Name: Premature Ovarian Failure 3 57 72 29 13 6 70
Pof3 57 72
Ovarian Failure, Premature, Type 3 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
premature ovarian failure 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 608996
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
MedGen 41 C1837008
UMLS 70 C1837008

Summaries for Premature Ovarian Failure 3

UniProtKB/Swiss-Prot : 72 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 menopause. An important gene associated with Premature Ovarian Failure 3 is FOXL2 (Forkhead Box L2). Affiliated tissues include uterus, and related phenotypes are premature ovarian insufficiency and secondary amenorrhea

More information from OMIM: 608996 PS311360

Related Diseases for Premature Ovarian Failure 3

Symptoms & Phenotypes for Premature Ovarian Failure 3

Human phenotypes related to Premature Ovarian Failure 3:

31
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 31 HP:0008209
2 secondary amenorrhea 31 HP:0000869
3 hypoplasia of the uterus 31 HP:0000013

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 luteinizing hormone (lh) levels
high follicle stimulating hormone (fsh) levels

Clinical features from OMIM®:

608996 (Updated 05-Apr-2021)

Drugs & Therapeutics for Premature Ovarian Failure 3

Search Clinical Trials , 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 29 FOXL2

Anatomical Context for Premature Ovarian Failure 3

MalaCards organs/tissues related to Premature Ovarian Failure 3:

40
Uterus

Publications for Premature Ovarian Failure 3

Articles related to Premature Ovarian Failure 3:

(show all 24)
# Title Authors PMID Year
1
Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2. 6 57
19429596 2009
2
Identification of novel mutations in FOXL2 associated with premature ovarian failure. 6 57
12149404 2002
3
FOXL2 mutation screening in a large panel of POF patients and XX males. 6
12161610 2002
4
Telomere length in granulosa cells and leukocytes: a potential marker of female fertility? A systematic review of the literature. 61
32825843 2020
5
Kerr gated Raman spectroscopy of LiPF6 salt and LiPF6-based organic carbonate electrolyte for Li-ion batteries. 61
31538641 2019
6
Involvement of matrix metalloproteinases (MMP-2, -7, -9) and their tissue inhibitors (TIMP-2, -3) in the regression of chicken postovulatory follicles. 61
29438675 2018
7
New insights into donor directionality of mating-type switching in Schizosaccharomyces pombe. 61
29852001 2018
8
Coherent apoptotic and autophagic activities involved in regression of chicken postovulatory follicles. 61
29706614 2018
9
F-box proteins Pof3 and Pof1 regulate Wee1 degradation and mitotic entry in fission yeast. 61
29361524 2018
10
Dependency of Heterochromatin Domains on Replication Factors. 61
29187422 2018
11
Evidence for a role of ferritin heavy chain in mediating reproductive processes of geese. 61
26679160 2015
12
Ligand-interchange reactions between M(IV) (M = Ti, V) oxide bis-acetylacetonates and halides of high-valent group 4 and 5 metals. A synthetic and electrochemical study. 61
23942748 2013
13
Proteasome-dependent degradation of replisome components regulates faithful DNA replication. 61
23907116 2013
14
Coordinated degradation of replisome components ensures genome stability upon replication stress in the absence of the replication fork protection complex. 61
23349636 2013
15
Anaphase-promoting complex/cyclosome-mediated proteolysis of Ams2 in the G1 phase ensures the coupling of histone gene expression to DNA replication in fission yeast. 61
23195958 2013
16
Premature ovarian failure 3 years after menarche in a 16-year-old girl following human papillomavirus vaccination. 61
23035167 2012
17
Sde2: a novel nuclear protein essential for telomeric silencing and genomic stability in Schizosaccharomyces pombe. 61
21333630 2011
18
Coupling histone homeostasis to centromere integrity via the ubiquitin-proteasome system. 61
20604974 2010
19
Hsk1- and SCF(Pof3)-dependent proteolysis of S. pombe Ams2 ensures histone homeostasis and centromere function. 61
20230746 2010
20
Nitric oxide: a possible mediator of ovulation and postovulatory follicle regression in chicken. 61
17306940 2007
21
Single-crystal growth and characterization of disilver(I) monofluorophosphate(V), Ag2PO3F: crystal structure, thermal behavior, vibrational spectroscopy, and solid-state 19F, 31P, and 109Ag MAS NMR spectroscopy. 61
17257023 2007
22
Fission yeast Mcl1 interacts with SCF(Pof3) and is required for centromere formation. 61
16997270 2006
23
Molecular interactions of fission yeast Skp1 and its role in the DNA damage checkpoint. 61
15147268 2004
24
Fission yeast F-box protein Pof3 is required for genome integrity and telomere function. 61
11809834 2002

Variations for Premature Ovarian Failure 3

ClinVar genetic disease variations for Premature Ovarian Failure 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXL2 FOXL2, 30-BP DEL, NT898 Deletion Pathogenic 4868 GRCh37:
GRCh38:
2 FOXL2 NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn) SNV Pathogenic 4869 rs28937885 GRCh37: 3:138664793-138664793
GRCh38: 3:138945951-138945951
3 FOXL2 NM_023067.4(FOXL2):c.988dup (p.Ala330fs) Duplication Pathogenic 503493 rs1553752779 GRCh37: 3:138664576-138664577
GRCh38: 3:138945734-138945735
4 FOXL2 NM_023067.4(FOXL2):c.462_468del (p.Pro156fs) Deletion Pathogenic 522614 rs1553752894 GRCh37: 3:138665097-138665103
GRCh38: 3:138946255-138946261
5 FOXL2 NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp) SNV Likely pathogenic 4871 rs121908359 GRCh37: 3:138665005-138665005
GRCh38: 3:138946163-138946163

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

72
# Symbol AA change Variation ID SNP ID
1 FOXL2 p.Gly187Asp VAR_015181 rs121908359
2 FOXL2 p.Tyr258Asn VAR_021204 rs28937885

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
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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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