POF14
MCID: PRM292
MIFTS: 16

Premature Ovarian Failure 14 (POF14)

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

Aliases & Classifications for Premature Ovarian Failure 14

MalaCards integrated aliases for Premature Ovarian Failure 14:

Name: Premature Ovarian Failure 14 58 76 6
Pof14 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618014
MeSH 45 D016649
SNOMED-CT via HPO 70 8913004

Summaries for Premature Ovarian Failure 14

UniProtKB/Swiss-Prot : 76 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 bone, and related phenotypes are primary amenorrhea and elevated circulating follicle stimulating hormone level

Description from OMIM: 618014

Related Diseases for Premature Ovarian Failure 14

Symptoms & Phenotypes for Premature Ovarian Failure 14

Human phenotypes related to Premature Ovarian Failure 14:

33
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 33 HP:0000786
2 elevated circulating follicle stimulating hormone level 33 HP:0008232
3 elevated circulating luteinizing hormone level 33 HP:0011969

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Premature Ovarian Failure 14

MalaCards organs/tissues related to Premature Ovarian Failure 14:

42
Bone

Publications for Premature Ovarian Failure 14

Articles related to Premature Ovarian Failure 14:

# Title Authors Year
1
Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. ( 29044499 )
2018
2
Repression of ergosterol level during oxidative stress by fission yeast F-box protein Pof14 independently of SCF. ( 17016471 )
2006

Variations for Premature Ovarian Failure 14

ClinVar genetic disease variations for Premature Ovarian Failure 14:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF9 NM_001288825.2(GDF9): c.519del (p.Ser174Hisfs) deletion Pathogenic rs1216260561 GRCh38 Chromosome 5, 132862171: 132862171
2 GDF9 NM_001288825.2(GDF9): c.519del (p.Ser174Hisfs) deletion Pathogenic rs1216260561 GRCh37 Chromosome 5, 132197863: 132197863

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
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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