POF13
MCID: PRM253
MIFTS: 18

Premature Ovarian Failure 13 (POF13)

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

Aliases & Classifications for Premature Ovarian Failure 13

MalaCards integrated aliases for Premature Ovarian Failure 13:

Name: Premature Ovarian Failure 13 58 76 6
Pof13 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 sisters (last curated may 2017)


HPO:

33
premature ovarian failure 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 617442
MeSH 45 D016649
SNOMED-CT via HPO 70 258211005 52073004

Summaries for Premature Ovarian Failure 13

UniProtKB/Swiss-Prot : 76 Premature ovarian failure 13: 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.

MalaCards based summary : Premature Ovarian Failure 13, is also known as pof13. An important gene associated with Premature Ovarian Failure 13 is MSH5 (MutS Homolog 5). Affiliated tissues include ovary and uterus, and related phenotype is oligomenorrhea.

Description from OMIM: 617442

Related Diseases for Premature Ovarian Failure 13

Symptoms & Phenotypes for Premature Ovarian Failure 13

Human phenotypes related to Premature Ovarian Failure 13:

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

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
oligomenorrhea
premature cessation of menstruation
infantile uterus
atrophic ovaries
absent ovarian follicles

Endocrine Features:
elevated serum follicle-stimulating hormone (fsh) levels

Clinical features from OMIM:

617442

Drugs & Therapeutics for Premature Ovarian Failure 13

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 13

Genetic Tests for Premature Ovarian Failure 13

Anatomical Context for Premature Ovarian Failure 13

MalaCards organs/tissues related to Premature Ovarian Failure 13:

42
Ovary, Uterus

Publications for Premature Ovarian Failure 13

Variations for Premature Ovarian Failure 13

UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 13:

76
# Symbol AA change Variation ID SNP ID
1 MSH5 p.Asp487Tyr VAR_078117 rs106050505

ClinVar genetic disease variations for Premature Ovarian Failure 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH5 NM_172165.3(MSH5): c.1459G> T (p.Asp487Tyr) single nucleotide variant Pathogenic rs1060505055 GRCh38 Chromosome 6, 31759476: 31759476
2 MSH5 NM_172165.3(MSH5): c.1459G> T (p.Asp487Tyr) single nucleotide variant Pathogenic rs1060505055 GRCh37 Chromosome 6, 31727253: 31727253

Expression for Premature Ovarian Failure 13

Search GEO for disease gene expression data for Premature Ovarian Failure 13.

Pathways for Premature Ovarian Failure 13

GO Terms for Premature Ovarian Failure 13

Biological processes related to Premature Ovarian Failure 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.16 MSH5 MSH5-SAPCD1
2 DNA repair GO:0006281 8.96 MSH5 MSH5-SAPCD1
3 mismatch repair GO:0006298 8.62 MSH5 MSH5-SAPCD1

Molecular functions related to Premature Ovarian Failure 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 8.96 MSH5 MSH5-SAPCD1
2 mismatched DNA binding GO:0030983 8.62 MSH5 MSH5-SAPCD1

Sources for Premature Ovarian Failure 13

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
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