POF15
MCID: PRM295
MIFTS: 14

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 57 6
Pof15 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 618096
SNOMED-CT via HPO 69 52073004

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 bone, and related phenotype is oligomenorrhea.

Related Diseases for Premature Ovarian Failure 15

Symptoms & Phenotypes for Premature Ovarian Failure 15

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

Human phenotypes related to Premature Ovarian Failure 15:

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

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:

41
Ovary, Bone

Publications for Premature Ovarian Failure 15

Variations for Premature Ovarian Failure 15

ClinVar genetic disease variations for Premature Ovarian Failure 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FANCM NM_020937.3(FANCM): c.5101C> T (p.Gln1701Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs147021911 GRCh37 Chromosome 14, 45658326: 45658326
2 FANCM NM_020937.3(FANCM): c.5101C> T (p.Gln1701Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs147021911 GRCh38 Chromosome 14, 45189123: 45189123

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 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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