POF15
MCID: PRM295
MIFTS: 17

Premature Ovarian Failure 15 (POF15)

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

Aliases & Classifications for Premature Ovarian Failure 15

MalaCards integrated aliases for Premature Ovarian Failure 15:

Name: Premature Ovarian Failure 15 58 76 6
Pof15 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618096
MeSH 45 D016649
MedGen 43 CN253428
SNOMED-CT via HPO 70 52073004

Summaries for Premature Ovarian Failure 15

OMIM : 58 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 bone, and related phenotype is oligomenorrhea.

UniProtKB/Swiss-Prot : 76 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:

33
# Description HPO Frequency HPO Source Accession
1 oligomenorrhea 33 HP:0000876

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Premature Ovarian Failure 15

MalaCards organs/tissues related to Premature Ovarian Failure 15:

42
Ovary, Bone

Publications for Premature Ovarian Failure 15

Articles related to Premature Ovarian Failure 15:

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

Variations for Premature Ovarian Failure 15

ClinVar genetic disease variations for Premature Ovarian Failure 15:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCM NM_020937.3(FANCM): c.1741C> T (p.Arg581Cys) single nucleotide variant Uncertain significance rs202171930 GRCh38 Chromosome 14, 45164518: 45164518
2 FANCM NM_020937.3(FANCM): c.1741C> T (p.Arg581Cys) single nucleotide variant Uncertain significance rs202171930 GRCh37 Chromosome 14, 45633721: 45633721
3 FANCM NM_020937.3(FANCM): c.4366C> T (p.Arg1456Cys) single nucleotide variant Uncertain significance rs200360968 GRCh37 Chromosome 14, 45650888: 45650888
4 FANCM NM_020937.3(FANCM): c.4366C> T (p.Arg1456Cys) single nucleotide variant Uncertain significance rs200360968 GRCh38 Chromosome 14, 45181685: 45181685
5 FANCM NM_020937.3(FANCM): c.2859A> C (p.Lys953Asn) single nucleotide variant Uncertain significance rs142864437 GRCh38 Chromosome 14, 45175613: 45175613
6 FANCM NM_020937.3(FANCM): c.2859A> C (p.Lys953Asn) single nucleotide variant Uncertain significance rs142864437 GRCh37 Chromosome 14, 45644816: 45644816
7 FANCM NM_020937.2(FANCM): c.1576C> G (p.Leu526Val) single nucleotide variant Uncertain significance rs144215747 GRCh38 Chromosome 14, 45159275: 45159275
8 FANCM NM_020937.2(FANCM): c.1576C> G (p.Leu526Val) single nucleotide variant Uncertain significance rs144215747 GRCh37 Chromosome 14, 45628478: 45628478
9 FANCM NM_020937.3(FANCM): c.2497G> A (p.Asp833Asn) single nucleotide variant Uncertain significance rs752560995 GRCh37 Chromosome 14, 45644454: 45644454
10 FANCM NM_020937.3(FANCM): c.2497G> A (p.Asp833Asn) single nucleotide variant Uncertain significance rs752560995 GRCh38 Chromosome 14, 45175251: 45175251
11 FANCM NM_020937.3(FANCM): c.5101C> T (p.Gln1701Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs147021911 GRCh37 Chromosome 14, 45658326: 45658326
12 FANCM NM_020937.3(FANCM): c.5101C> T (p.Gln1701Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs147021911 GRCh38 Chromosome 14, 45189123: 45189123
13 FANCM NM_020937.3(FANCM): c.5569G> A (p.Val1857Met) single nucleotide variant Uncertain significance rs144008013 GRCh37 Chromosome 14, 45665603: 45665603
14 FANCM NM_020937.3(FANCM): c.5569G> A (p.Val1857Met) single nucleotide variant Uncertain significance rs144008013 GRCh38 Chromosome 14, 45196400: 45196400
15 FANCM NM_020937.2(FANCM): c.3992C> T (p.Pro1331Leu) single nucleotide variant Uncertain significance rs149348098 GRCh37 Chromosome 14, 45645949: 45645949
16 FANCM NM_020937.2(FANCM): c.3992C> T (p.Pro1331Leu) single nucleotide variant Uncertain significance rs149348098 GRCh38 Chromosome 14, 45176746: 45176746
17 FANCM NM_020937.3(FANCM): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs146609069 GRCh37 Chromosome 14, 45605287: 45605287
18 FANCM NM_020937.3(FANCM): c.53G> A (p.Arg18Gln) single nucleotide variant Uncertain significance rs146609069 GRCh38 Chromosome 14, 45136084: 45136084
19 FANCM NM_020937.3(FANCM): c.1192C> T (p.Arg398Trp) single nucleotide variant Uncertain significance rs752364451 GRCh37 Chromosome 14, 45623908: 45623908
20 FANCM NM_020937.3(FANCM): c.1192C> T (p.Arg398Trp) single nucleotide variant Uncertain significance rs752364451 GRCh38 Chromosome 14, 45154705: 45154705
21 FANCM NM_020937.3(FANCM): c.1237T> C (p.Tyr413His) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 45623953: 45623953
22 FANCM NM_020937.3(FANCM): c.1237T> C (p.Tyr413His) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 45154750: 45154750

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
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
Content
Loading form....