POF13
MCID: PRM253
MIFTS: 21

Premature Ovarian Failure 13 (POF13)

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

Aliases & Classifications for Premature Ovarian Failure 13

MalaCards integrated aliases for Premature Ovarian Failure 13:

Name: Premature Ovarian Failure 13 57 72 29 6
Pof13 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
premature ovarian failure 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617442
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
SNOMED-CT via HPO 68 258211005 52073004

Summaries for Premature Ovarian Failure 13

UniProtKB/Swiss-Prot : 72 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, also known as pof13, is related to spermatogenic failure 3. An important gene associated with Premature Ovarian Failure 13 is MSH5 (MutS Homolog 5). Affiliated tissues include uterus, and related phenotype is oligomenorrhea.

More information from OMIM: 617442 PS311360

Related Diseases for Premature Ovarian Failure 13

Symptoms & Phenotypes for Premature Ovarian Failure 13

Human phenotypes related to Premature Ovarian Failure 13:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Premature Ovarian Failure 13:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 13 29 MSH5

Anatomical Context for Premature Ovarian Failure 13

MalaCards organs/tissues related to Premature Ovarian Failure 13:

40
Uterus

Publications for Premature Ovarian Failure 13

Articles related to Premature Ovarian Failure 13:

# Title Authors PMID Year
1
Mutations in MSH5 in primary ovarian insufficiency. 6 57
28175301 2017

Variations for Premature Ovarian Failure 13

ClinVar genetic disease variations for Premature Ovarian Failure 13:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSH5-SAPCD1 , MSH5 NM_002441.4(MSH5):c.1459G>T (p.Asp487Tyr) SNV Pathogenic 417969 rs1060505055 GRCh37: 6:31727253-31727253
GRCh38: 6:31759476-31759476
2 MSH5-SAPCD1 , MSH5 NM_172166.4(MSH5):c.2146C>T (p.Gln716Ter) SNV Pathogenic 1031437 GRCh37: 6:31729357-31729357
GRCh38: 6:31761580-31761580

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

72
# Symbol AA change Variation ID SNP ID
1 MSH5 p.Asp487Tyr VAR_078117 rs106050505

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-SAPCD1 MSH5
2 DNA repair GO:0006281 8.96 MSH5-SAPCD1 MSH5
3 mismatch repair GO:0006298 8.62 MSH5-SAPCD1 MSH5

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.16 MSH5-SAPCD1 MSH5
2 ATP binding GO:0005524 8.96 MSH5-SAPCD1 MSH5
3 mismatched DNA binding GO:0030983 8.62 MSH5-SAPCD1 MSH5

Sources for Premature Ovarian Failure 13

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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