POF15
MCID: PRM295
MIFTS: 22

Premature Ovarian Failure 15 (POF15)

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

Aliases & Classifications for Premature Ovarian Failure 15

MalaCards integrated aliases for Premature Ovarian Failure 15:

Name: Premature Ovarian Failure 15 57 74 29 6
Pof15 57 74
Ovarian Failure, Premature, Type 15 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 finnish sisters (last curated august 2018)


HPO:

32
premature ovarian failure 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D016649

Summaries for Premature Ovarian Failure 15

OMIM : 57 Premature ovarian failure-15 is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones (Fouquet et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). (618096)

MalaCards based summary : Premature Ovarian Failure 15, is also known as pof15. An important gene associated with Premature Ovarian Failure 15 is FANCM (FA Complementation Group M). Affiliated tissues include ovary, and related phenotypes are oligomenorrhea and Synthetic lethal with MLN4924 (a NAE inhibitor)

UniProtKB/Swiss-Prot : 74 Premature ovarian failure 15: 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.

Related Diseases for Premature Ovarian Failure 15

Symptoms & Phenotypes for Premature Ovarian Failure 15

Human phenotypes related to Premature Ovarian Failure 15:

32
# Description HPO Frequency HPO Source Accession
1 oligomenorrhea 32 HP:0000876

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
small ovaries
oligomenorrhea in third decade of life
reduced number of follicles

Cardiovascular Vascular:
hot flushes (in the third decade of life)

Endocrine Features:
low anti-mullerian hormone (amh) levels
low estradiol (e2) levels
high follicle-stimulating hormone (fsh) levels

Clinical features from OMIM:

618096

GenomeRNAi Phenotypes related to Premature Ovarian Failure 15 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 FANCM FKBP3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 FANCM FKBP3
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.96 FANCM FKBP3

Drugs & Therapeutics for Premature Ovarian Failure 15

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 15

Genetic Tests for Premature Ovarian Failure 15

Genetic tests related to Premature Ovarian Failure 15:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 15 29 FANCM

Anatomical Context for Premature Ovarian Failure 15

MalaCards organs/tissues related to Premature Ovarian Failure 15:

41
Ovary

Publications for Premature Ovarian Failure 15

Articles related to Premature Ovarian Failure 15:

# Title Authors PMID Year
1
A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. 8 71
29231814 2017
2
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. 71
30075111 2018

Variations for Premature Ovarian Failure 15

ClinVar genetic disease variations for Premature Ovarian Failure 15:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FANCM NM_020937.4(FANCM): c.5101C> T (p.Gln1701Ter) single nucleotide variant Likely pathogenic,risk factor rs147021911 14:45658326-45658326 14:45189123-45189123
2 FANCM NM_020937.4(FANCM): c.5569G> A (p.Val1857Met) single nucleotide variant Uncertain significance rs144008013 14:45665603-45665603 14:45196400-45196400
3 FANCM NM_020937.4(FANCM): c.3992C> T (p.Pro1331Leu) single nucleotide variant Uncertain significance rs149348098 14:45645949-45645949 14:45176746-45176746
4 FANCM NM_020937.4(FANCM): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs146609069 14:45605287-45605287 14:45136084-45136084
5 FANCM NM_020937.4(FANCM): c.1192C> T (p.Arg398Trp) single nucleotide variant Uncertain significance rs752364451 14:45623908-45623908 14:45154705-45154705
6 FANCM NM_020937.4(FANCM): c.1741C> T (p.Arg581Cys) single nucleotide variant Uncertain significance rs202171930 14:45633721-45633721 14:45164518-45164518
7 FANCM NM_020937.4(FANCM): c.4366C> T (p.Arg1456Cys) single nucleotide variant Uncertain significance rs200360968 14:45650888-45650888 14:45181685-45181685
8 FANCM NM_020937.4(FANCM): c.2859A> C (p.Lys953Asn) single nucleotide variant Uncertain significance rs142864437 14:45644816-45644816 14:45175613-45175613
9 FANCM NM_020937.4(FANCM): c.1576C> G (p.Leu526Val) single nucleotide variant Uncertain significance rs144215747 14:45628478-45628478 14:45159275-45159275
10 FANCM NM_020937.4(FANCM): c.1237T> C (p.Tyr413His) single nucleotide variant Uncertain significance 14:45623953-45623953 14:45154750-45154750
11 FANCM NM_020937.4(FANCM): c.2497G> A (p.Asp833Asn) single nucleotide variant Uncertain significance rs752560995 14:45644454-45644454 14:45175251-45175251

Expression for Premature Ovarian Failure 15

Search GEO for disease gene expression data for Premature Ovarian Failure 15.

Pathways for Premature Ovarian Failure 15

GO Terms for Premature Ovarian Failure 15

Sources for Premature Ovarian Failure 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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