MCID: PRM089
MIFTS: 22

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 57 75 29 13 6 73
Pof3 57 75
Ovarian Failure, Premature, Type 3 40

Characteristics:

OMIM:

57
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:

32
premature ovarian failure 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608996
MedGen 42 C1837008
MeSH 44 D016649
UMLS 73 C1837008

Summaries for Premature Ovarian Failure 3

UniProtKB/Swiss-Prot : 75 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 and epicanthus. An important gene associated with Premature Ovarian Failure 3 is FOXL2 (Forkhead Box L2). Affiliated tissues include uterus and ovary, and related phenotypes are hypoplasia of the uterus and secondary amenorrhea

Description from OMIM: 608996

Related Diseases for Premature Ovarian Failure 3

Symptoms & Phenotypes for Premature Ovarian Failure 3

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
hypoplastic uterus
small ovaries
follicles small or not visible
secondary amenorrhea
ovarian failure, premature

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


Clinical features from OMIM:

608996

Human phenotypes related to Premature Ovarian Failure 3:

32
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the uterus 32 HP:0000013
2 secondary amenorrhea 32 HP:0000869
3 premature ovarian insufficiency 32 HP:0008209

Drugs & Therapeutics for Premature Ovarian Failure 3

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 29 FOXL2

Anatomical Context for Premature Ovarian Failure 3

MalaCards organs/tissues related to Premature Ovarian Failure 3:

41
Uterus, Ovary

Publications for Premature Ovarian Failure 3

Articles related to Premature Ovarian Failure 3:

# 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:

75
# 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 GRCh37 Chromosome 3, 138664576: 138664577
7 FOXL2 NM_023067.3(FOXL2): c.988_989insG (p.Ala330Glyfs) insertion Pathogenic GRCh38 Chromosome 3, 138945734: 138945735
8 FOXL2 NM_023067.3(FOXL2): c.462_468delGCCGCCG (p.Pro156Argfs) deletion Pathogenic GRCh37 Chromosome 3, 138665097: 138665103
9 FOXL2 NM_023067.3(FOXL2): c.462_468delGCCGCCG (p.Pro156Argfs) deletion Pathogenic 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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