MCID: PRM207
MIFTS: 19

Premature Ovarian Failure 10

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 10

MalaCards integrated aliases for Premature Ovarian Failure 10:

Name: Premature Ovarian Failure 10 57 75 29 6
Pof10 57 75
Ovarian Failure, Premature, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
premature ovarian failure 10:
Inheritance autosomal recessive inheritance


Classifications:



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)

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, testes and uterus, and related phenotypes are azoospermia and primary amenorrhea

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Premature Ovarian Failure 10

Symptoms & Phenotypes for Premature Ovarian Failure 10

Symptoms via clinical synopsis from OMIM:

57
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)
hypergonadotropic premature ovarian failure
hypergonadotropic testicular failure
more
Chest Breasts:
delayed or absent thelarche


Clinical features from OMIM:

612885

Human phenotypes related to Premature Ovarian Failure 10:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 primary amenorrhea 32 HP:0000786
3 hypothyroidism 32 HP:0000821
4 premature ovarian insufficiency 32 HP:0008209
5 elevated circulating follicle stimulating hormone level 32 HP:0008232
6 hypoplasia of the ovary 32 HP:0008724
7 decreased testicular size 32 HP:0008734
8 elevated circulating luteinizing hormone level 32 HP:0011969

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:

41
Ovary, Testes, Uterus

Publications for Premature Ovarian Failure 10

Variations for Premature Ovarian Failure 10

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

75
# Symbol AA change Variation ID SNP ID
1 MCM8 p.Pro149Arg VAR_073417 rs606231343

ClinVar genetic disease variations for Premature Ovarian Failure 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MCM8 NM_001281520.1(MCM8): c.446C> G (p.Pro149Arg) single nucleotide variant Pathogenic rs606231343 GRCh38 Chromosome 20, 5955211: 5955211
2 MCM8 NM_001281520.1(MCM8): c.446C> G (p.Pro149Arg) single nucleotide variant Pathogenic rs606231343 GRCh37 Chromosome 20, 5935857: 5935857
3 MCM8 NM_032485.5(MCM8): c.1954-1G> A single nucleotide variant Pathogenic rs138761187 GRCh37 Chromosome 20, 5966567: 5966567
4 MCM8 NM_032485.5(MCM8): c.1954-1G> A single nucleotide variant Pathogenic rs138761187 GRCh38 Chromosome 20, 5985921: 5985921
5 MCM8 NM_032485.5(MCM8): c.1470_1471insTA (p.Leu491Tyrfs) insertion Pathogenic rs869320753 GRCh37 Chromosome 20, 5958596: 5958597
6 MCM8 NM_032485.5(MCM8): c.1470_1471insTA (p.Leu491Tyrfs) insertion Pathogenic rs869320753 GRCh38 Chromosome 20, 5977950: 5977951

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 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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