POF10
MCID: PRM207
MIFTS: 24

Premature Ovarian Failure 10 (POF10)

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

Aliases & Classifications for Premature Ovarian Failure 10

MalaCards integrated aliases for Premature Ovarian Failure 10:

Name: Premature Ovarian Failure 10 57 72 29 6
Pof10 57 72
Ovarian Failure, Premature, Type 10 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one male patient has been reported (last curated september 2015)


HPO:

31
premature ovarian failure 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 612885
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649

Summaries for Premature Ovarian Failure 10

OMIM® : 57 Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells. For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). For a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (300488). (612885) (Updated 05-Apr-2021)

MalaCards based summary : Premature Ovarian Failure 10, is also known as pof10. An important gene associated with Premature Ovarian Failure 10 is MCM8 (Minichromosome Maintenance 8 Homologous Recombination Repair Factor). Affiliated tissues include ovary, uterus and testes, and related phenotypes are hypothyroidism and premature ovarian insufficiency

UniProtKB/Swiss-Prot : 72 Premature ovarian failure 10: 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.

Symptoms & Phenotypes for Premature Ovarian Failure 10

Human phenotypes related to Premature Ovarian Failure 10:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 HP:0000821
2 premature ovarian insufficiency 31 HP:0008209
3 primary amenorrhea 31 HP:0000786
4 azoospermia 31 HP:0000027
5 decreased testicular size 31 HP:0008734
6 hypoplasia of the ovary 31 HP:0008724
7 elevated circulating follicle stimulating hormone level 31 HP:0008232
8 elevated circulating luteinizing hormone level 31 HP:0011969

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
primary amenorrhea
atrophic or absent ovaries on ultrasound
infantile uterus on ultrasound

Genitourinary External Genitalia Male:
azoospermia
small testes

Endocrine Features:
primary amenorrhea
azoospermia
hypothyroidism (in some patients)
elevated luteinizing hormone (lh)
elevated follicle-stimulating hormone (fsh)
more
Chest Breasts:
delayed or absent thelarche

Clinical features from OMIM®:

612885 (Updated 05-Apr-2021)

Drugs & Therapeutics for Premature Ovarian Failure 10

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 10

Genetic Tests for Premature Ovarian Failure 10

Genetic tests related to Premature Ovarian Failure 10:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 10 29 MCM8

Anatomical Context for Premature Ovarian Failure 10

MalaCards organs/tissues related to Premature Ovarian Failure 10:

40
Ovary, Uterus, Testes

Publications for Premature Ovarian Failure 10

Articles related to Premature Ovarian Failure 10:

# Title Authors PMID Year
1
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. 6 57
25873734 2015
2
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. 57 6
25437880 2015
3
Loci at chromosomes 13, 19 and 20 influence age at natural menopause. 57
19448619 2009
4
Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. 57
19448621 2009
5
Physical training promotes similar effects to the blockade of angiotensin-converting enzyme on the cardiac morphology and function in old female rats subjected to premature ovarian failure. 61
28408160 2018
6
Molecular interactions of fission yeast Skp1 and its role in the DNA damage checkpoint. 61
15147268 2004
7
Isolation and characterization of a novel F-box protein Pof10 in fission yeast. 61
11820777 2002
8
Development of a sensitive porcine granulosa cell bioassay for follicle-stimulating hormone (FSH). 61
8835681 1996

Variations for Premature Ovarian Failure 10

ClinVar genetic disease variations for Premature Ovarian Failure 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MCM8 NM_032485.6(MCM8):c.1954-1G>A SNV Pathogenic 208810 rs138761187 GRCh37: 20:5966567-5966567
GRCh38: 20:5985921-5985921
2 MCM8 NM_032485.6(MCM8):c.1470_1471insTA (p.Leu491fs) Insertion Pathogenic 208811 rs869320753 GRCh37: 20:5958596-5958597
GRCh38: 20:5977950-5977951
3 MCM8 NM_032485.6(MCM8):c.925C>T (p.Arg309Ter) SNV Pathogenic 812137 rs201115244 GRCh37: 20:5948131-5948131
GRCh38: 20:5967485-5967485
4 MCM8 NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter) SNV Pathogenic 1031494 GRCh37: 20:5948481-5948481
GRCh38: 20:5967835-5967835
5 MCM8 NM_032485.6(MCM8):c.1735dup (p.Met579fs) Duplication Pathogenic 1031495 GRCh37: 20:5963808-5963809
GRCh38: 20:5983162-5983163
6 MCM8 NM_032485.6(MCM8):c.34C>T (p.Arg12Ter) SNV Pathogenic 1031496 GRCh37: 20:5932695-5932695
GRCh38: 20:5952049-5952049
7 MCM8 NM_032485.6(MCM8):c.446C>G (p.Pro149Arg) SNV Pathogenic 161191 rs606231343 GRCh37: 20:5935857-5935857
GRCh38: 20:5955211-5955211
8 MCM8 NM_032485.6(MCM8):c.89A>C (p.Lys30Thr) SNV Uncertain significance 812132 rs906306910 GRCh37: 20:5932750-5932750
GRCh38: 20:5952104-5952104
9 MCM8 NM_032485.6(MCM8):c.1330A>G (p.Ile444Val) SNV Uncertain significance 812133 rs373319946 GRCh37: 20:5953777-5953777
GRCh38: 20:5973131-5973131

UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 10:

72
# Symbol AA change Variation ID SNP ID
1 MCM8 p.Pro149Arg VAR_073417 rs606231343

Expression for Premature Ovarian Failure 10

Search GEO for disease gene expression data for Premature Ovarian Failure 10.

Pathways for Premature Ovarian Failure 10

GO Terms for Premature Ovarian Failure 10

Sources for Premature Ovarian Failure 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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