POF14
MCID: PRM292
MIFTS: 15

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 57 75 6
Pof14 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 618014
MedGen 42 CN248520
MeSH 44 D016649
SNOMED-CT via HPO 69 8913004

Summaries for Premature Ovarian Failure 14

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Premature Ovarian Failure 14:

32
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 32 HP:0000786
2 elevated circulating follicle stimulating hormone level 32 HP:0008232
3 elevated circulating luteinizing hormone level 32 HP:0011969

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:

41
Bone

Publications for Premature Ovarian Failure 14

Articles related to Premature Ovarian Failure 14:

# Title Authors Year
1
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 GRCh38 Chromosome 5, 132862171: 132862171
2 GDF9 NM_001288825.2(GDF9): c.519del (p.Ser174Hisfs) deletion Pathogenic 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 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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