POF6
MCID: PRM090
MIFTS: 19

Premature Ovarian Failure 6 (POF6)

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

Aliases & Classifications for Premature Ovarian Failure 6

MalaCards integrated aliases for Premature Ovarian Failure 6:

Name: Premature Ovarian Failure 6 57 75 29 13 6 73
Pof6 57 75
Ovarian Failure, Premature, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on one report of two chinese women (last curated april 2017)


HPO:

32
premature ovarian failure 6:
Inheritance sex-limited autosomal dominant


Classifications:



External Ids:

OMIM 57 612310
MedGen 42 C2676742
MeSH 44 D016649
SNOMED-CT via HPO 69 35850006 373717006
UMLS 73 C2676742

Summaries for Premature Ovarian Failure 6

UniProtKB/Swiss-Prot : 75 Premature ovarian failure 6: 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 6, is also known as pof6. An important gene associated with Premature Ovarian Failure 6 is FIGLA (Folliculogenesis Specific BHLH Transcription Factor). The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include ovary, uterus and bone, and related phenotypes are premature ovarian insufficiency and hypoplasia of the uterus

Description from OMIM: 612310

Related Diseases for Premature Ovarian Failure 6

Symptoms & Phenotypes for Premature Ovarian Failure 6

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
small uterus
streak ovaries
small or absent ovaries
ovaries devoid of follicles
atrophic endometrium

Endocrine Features:
premature ovarian failure
elevated follicle-stimulating hormone (fsh) levels


Clinical features from OMIM:

612310

Human phenotypes related to Premature Ovarian Failure 6:

32
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 32 HP:0008209
2 hypoplasia of the uterus 32 HP:0000013

Drugs & Therapeutics for Premature Ovarian Failure 6

Drugs for Premature Ovarian Failure 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 1 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 1 28014-46-2
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 1 979-32-8
4 Estradiol 17 beta-cypionate Phase 1
5 Estradiol 3-benzoate Phase 1
6 Calcium, Dietary Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inovium Ovarian Rejuvenation Trials Completed NCT03178695 Phase 1

Search NIH Clinical Center for Premature Ovarian Failure 6

Genetic Tests for Premature Ovarian Failure 6

Genetic tests related to Premature Ovarian Failure 6:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 6 29 FIGLA

Anatomical Context for Premature Ovarian Failure 6

MalaCards organs/tissues related to Premature Ovarian Failure 6:

41
Ovary, Uterus, Bone

Publications for Premature Ovarian Failure 6

Articles related to Premature Ovarian Failure 6:

# Title Authors Year
1
Skp1 and the F-box protein Pof6 are essential for cell separation in fission yeast. ( 12511573 )
2003

Variations for Premature Ovarian Failure 6

ClinVar genetic disease variations for Premature Ovarian Failure 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FIGLA NM_001004311.3(FIGLA): c.15_36del22 (p.Gly6Argfs) deletion Pathogenic rs587776535 GRCh38 Chromosome 2, 70790603: 70790624
2 FIGLA FIGLA, 3-BP DEL, 419ACA deletion Pathogenic
3 FIGLA NM_001004311.3(FIGLA): c.15_36del22 (p.Gly6Argfs) deletion Pathogenic rs587776535 GRCh37 Chromosome 2, 71017735: 71017756

Expression for Premature Ovarian Failure 6

Search GEO for disease gene expression data for Premature Ovarian Failure 6.

Pathways for Premature Ovarian Failure 6

GO Terms for Premature Ovarian Failure 6

Sources for Premature Ovarian Failure 6

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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