POF14
MCID: PRM292
MIFTS: 18

Premature Ovarian Failure 14 (POF14)

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

Aliases & Classifications for Premature Ovarian Failure 14

MalaCards integrated aliases for Premature Ovarian Failure 14:

Name: Premature Ovarian Failure 14 57 72 29 6
Pof14 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
based on report of 1 patient (last curated june 2018)


HPO:

31
premature ovarian failure 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618014
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
SNOMED-CT via HPO 68 258211005 8913004

Summaries for Premature Ovarian Failure 14

UniProtKB/Swiss-Prot : 72 Premature ovarian failure 14: 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 14, is also known as pof14. An important gene associated with Premature Ovarian Failure 14 is GDF9 (Growth Differentiation Factor 9). Affiliated tissues include breast, and related phenotypes are primary amenorrhea and elevated circulating follicle stimulating hormone level

More information from OMIM: 618014 PS311360

Symptoms & Phenotypes for Premature Ovarian Failure 14

Human phenotypes related to Premature Ovarian Failure 14:

31
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 31 HP:0000786
2 elevated circulating follicle stimulating hormone level 31 HP:0008232
3 elevated circulating luteinizing hormone level 31 HP:0011969

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
primary amenorrhea
absent breast development
delayed pubic hair development

Endocrine Features:
low serum estradiol
elevated follicle-stimulating hormone (fsh, see )
elevated luteinizing hormone (lh, see )

Clinical features from OMIM®:

618014 (Updated 20-May-2021)

Drugs & Therapeutics for Premature Ovarian Failure 14

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 14

Genetic Tests for Premature Ovarian Failure 14

Genetic tests related to Premature Ovarian Failure 14:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 14 29 GDF9

Anatomical Context for Premature Ovarian Failure 14

MalaCards organs/tissues related to Premature Ovarian Failure 14:

40
Breast

Publications for Premature Ovarian Failure 14

Articles related to Premature Ovarian Failure 14:

# Title Authors PMID Year
1
Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. 6 57
29044499 2018
2
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency. 57
27603904 2016
3
Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform. 57
24939957 2014
4
Repression of ergosterol level during oxidative stress by fission yeast F-box protein Pof14 independently of SCF. 61
17016471 2006
5
Measurement of bone mineral density in amenorrheic women with dual photon absorptiometry. 61
2636246 1989

Variations for Premature Ovarian Failure 14

ClinVar genetic disease variations for Premature Ovarian Failure 14:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GDF9 NM_005260.5(GDF9):c.783del (p.Ser262fs) Deletion Pathogenic 545504 rs1216260561 GRCh37: 5:132197863-132197863
GRCh38: 5:132862171-132862171

Expression for Premature Ovarian Failure 14

Search GEO for disease gene expression data for Premature Ovarian Failure 14.

Pathways for Premature Ovarian Failure 14

GO Terms for Premature Ovarian Failure 14

Sources for Premature Ovarian Failure 14

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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