MCID: PRM253
MIFTS: 18

Premature Ovarian Failure 13

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 13

MalaCards integrated aliases for Premature Ovarian Failure 13:

Name: Premature Ovarian Failure 13 57 75 6
Pof13 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
premature ovarian failure 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617442
MeSH 44 D016649
SNOMED-CT via HPO 69 258211005 52073004

Summaries for Premature Ovarian Failure 13

UniProtKB/Swiss-Prot : 75 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 uterus and ovary, and related phenotype is oligomenorrhea.

Description from OMIM: 617442

Related Diseases for Premature Ovarian Failure 13

Symptoms & Phenotypes for Premature Ovarian Failure 13

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Premature Ovarian Failure 13:

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

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:

41
Uterus, Ovary

Publications for Premature Ovarian Failure 13

Variations for Premature Ovarian Failure 13

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

75
# Symbol AA change Variation ID SNP ID
1 MSH5 p.Asp487Tyr VAR_078117

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 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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