POF15
MCID: PRM295
MIFTS: 21

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 56 73 29 6
Pof15 56 73
Ovarian Failure, Premature, Type 15 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
premature ovarian failure 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618096
OMIM Phenotypic Series 56 PS311360
MeSH 43 D016649
SNOMED-CT via HPO 68 258211005 52073004

Summaries for Premature Ovarian Failure 15

OMIM : 56 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 : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 oligomenorrhea 31 HP:0000876

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Ovary, Bone

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. 56 6
29231814 2017
2
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. 6
30075111 2018

Variations for Premature Ovarian Failure 15

ClinVar genetic disease variations for Premature Ovarian Failure 15:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FANCM NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)SNV Likely pathogenic,risk factor 412519 rs147021911 14:45658326-45658326 14:45189123-45189123
2 FANCM NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)SNV Conflicting interpretations of pathogenicity 313209 rs142864437 14:45644816-45644816 14:45175613-45175613
3 FANCM NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)SNV Conflicting interpretations of pathogenicity 313199 rs144215747 14:45628478-45628478 14:45159275-45159275
4 FANCM NM_020937.4(FANCM):c.2497G>A (p.Asp833Asn)SNV Uncertain significance 408223 rs752560995 14:45644454-45644454 14:45175251-45175251
5 FANCM NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys)SNV Uncertain significance 313200 rs202171930 14:45633721-45633721 14:45164518-45164518
6 FANCM NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys)SNV Uncertain significance 313218 rs200360968 14:45650888-45650888 14:45181685-45181685
7 FANCM NM_020937.4(FANCM):c.5569G>A (p.Val1857Met)SNV Uncertain significance 408221 rs144008013 14:45665603-45665603 14:45196400-45196400
8 FANCM NM_020937.4(FANCM):c.3992C>T (p.Pro1331Leu)SNV Uncertain significance 452291 rs149348098 14:45645949-45645949 14:45176746-45176746
9 FANCM NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)SNV Uncertain significance 456276 rs146609069 14:45605287-45605287 14:45136084-45136084
10 FANCM NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp)SNV Uncertain significance 456249 rs752364451 14:45623908-45623908 14:45154705-45154705
11 FANCM NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)SNV Uncertain significance 568489 rs138225703 14:45623953-45623953 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
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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39 LOVD
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43 MeSH
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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