MCID: PRM089
MIFTS: 19

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 53 71 28 13 69
Pof3 53 71

Characteristics:

OMIM:

53
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 53 608996
MedGen 39 C1837008
MeSH 41 D016649
UMLS 69 C1837008

Summaries for Premature Ovarian Failure 3

UniProtKB/Swiss-Prot : 71 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 has symptoms including secondary amenorrhea, hypoplasia of the uterus and premature ovarian insufficiency. An important gene associated with Premature Ovarian Failure 3 is FOXL2 (Forkhead Box L2). Affiliated tissues include uterus and ovary.

Description from OMIM: 608996

Related Diseases for Premature Ovarian Failure 3

Symptoms & Phenotypes for Premature Ovarian Failure 3

Symptoms via clinical synopsis from OMIM:

53
GenitourinaryInternalGenitaliaFemale:
hypoplastic uterus
small ovaries
follicles small or not visible
secondary amenorrhea
ovarian failure, premature

EndocrineFeatures:
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:

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

Drugs & Therapeutics for Premature Ovarian Failure 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inovium Ovarian Rejuvenation Trials Recruiting 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 28 FOXL2

Anatomical Context for Premature Ovarian Failure 3

MalaCards organs/tissues related to Premature Ovarian Failure 3:

38
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:

71
# 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.560G> A (p.Gly187Asp) single nucleotide variant Pathogenic rs121908359 GRCh37 Chromosome 3, 138665005: 138665005

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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