POF9
MCID: PRM191
MIFTS: 21

Premature Ovarian Failure 9 (POF9)

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

Aliases & Classifications for Premature Ovarian Failure 9

MalaCards integrated aliases for Premature Ovarian Failure 9:

Name: Premature Ovarian Failure 9 58 76 30 6 74
Pof9 58 76
Ovarian Failure, Premature, Type 9 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two chinese sisters and one chinese woman have been described (last curated april 2014)


HPO:

33
premature ovarian failure 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 615724
MeSH 45 D016649
SNOMED-CT via HPO 70 258211005 373717006
UMLS 74 C3810376

Summaries for Premature Ovarian Failure 9

OMIM : 58 Nonsyndromic primary ovarian insufficiency, which is characterized by amenorrhea with elevated gonadotropin levels, is observed in 1% of otherwise healthy women under the age of 40 years (summary by Wang et al., 2014). For a general phenotypic description and discussion of the genetic heterogeneity of premature ovarian failure, see POF1 (311360). (615724)

MalaCards based summary : Premature Ovarian Failure 9, is also known as pof9. An important gene associated with Premature Ovarian Failure 9 is HFM1 (Helicase For Meiosis 1). The drugs Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include ovary and bone, and related phenotypes are increased circulating gonadotropin level and premature ovarian insufficiency

UniProtKB/Swiss-Prot : 76 Premature ovarian failure 9: 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.

Related Diseases for Premature Ovarian Failure 9

Symptoms & Phenotypes for Premature Ovarian Failure 9

Human phenotypes related to Premature Ovarian Failure 9:

33
# Description HPO Frequency HPO Source Accession
1 increased circulating gonadotropin level 33 HP:0000837
2 premature ovarian insufficiency 33 HP:0008209
3 amenorrhea 33 HP:0000141

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
amenorrhea
small ovaries with few antral follicles on ultrasound

Endocrine Features:
elevated serum gonadotropins
low serum estradiol

Clinical features from OMIM:

615724

Drugs & Therapeutics for Premature Ovarian Failure 9

Drugs for Premature Ovarian Failure 9 (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
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
4 Estradiol 3-benzoate Phase 1
5 Calcium, Dietary Phase 1
6 Estradiol 17 beta-cypionate 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 9

Genetic Tests for Premature Ovarian Failure 9

Genetic tests related to Premature Ovarian Failure 9:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 9 30 HFM1

Anatomical Context for Premature Ovarian Failure 9

MalaCards organs/tissues related to Premature Ovarian Failure 9:

42
Ovary, Bone

Publications for Premature Ovarian Failure 9

Articles related to Premature Ovarian Failure 9:

# Title Authors Year
1
Mutations in HFM1 in recessive primary ovarian insufficiency. ( 24597873 )
2014

Variations for Premature Ovarian Failure 9

UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 9:

76
# Symbol AA change Variation ID SNP ID
1 HFM1 p.Gly736Ser VAR_071262 rs587777269
2 HFM1 p.Ile884Ser VAR_071263 rs587777268

ClinVar genetic disease variations for Premature Ovarian Failure 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HFM1 NM_001017975.4(HFM1): c.3929_3930delCCinsG (p.Pro1310Argfs) indel Pathogenic rs587777270 GRCh37 Chromosome 1, 91731618: 91731619
2 HFM1 NM_001017975.4(HFM1): c.1687-1G> C single nucleotide variant Pathogenic rs730880018 GRCh37 Chromosome 1, 91818856: 91818856
3 HFM1 NM_001017975.4(HFM1): c.1687-1G> C single nucleotide variant Pathogenic rs730880018 GRCh38 Chromosome 1, 91353299: 91353299
4 HFM1 NM_001017975.4(HFM1): c.2651T> G (p.Ile884Ser) single nucleotide variant Pathogenic rs587777268 GRCh37 Chromosome 1, 91784879: 91784879
5 HFM1 NM_001017975.4(HFM1): c.2651T> G (p.Ile884Ser) single nucleotide variant Pathogenic rs587777268 GRCh38 Chromosome 1, 91319322: 91319322
6 HFM1 NM_001017975.4(HFM1): c.2206G> A (p.Gly736Ser) single nucleotide variant Pathogenic rs587777269 GRCh37 Chromosome 1, 91816295: 91816295
7 HFM1 NM_001017975.4(HFM1): c.2206G> A (p.Gly736Ser) single nucleotide variant Pathogenic rs587777269 GRCh38 Chromosome 1, 91350738: 91350738
8 HFM1 NM_001017975.4(HFM1): c.3929_3930delCCinsG (p.Pro1310Argfs) indel Pathogenic rs587777270 GRCh38 Chromosome 1, 91266061: 91266062
9 HFM1 NM_001017975.4(HFM1): c.4061delC (p.Pro1354Leufs) deletion Uncertain significance GRCh38 Chromosome 1, 91262506: 91262506
10 HFM1 NM_001017975.4(HFM1): c.4061delC (p.Pro1354Leufs) deletion Uncertain significance GRCh37 Chromosome 1, 91728063: 91728063

Expression for Premature Ovarian Failure 9

Search GEO for disease gene expression data for Premature Ovarian Failure 9.

Pathways for Premature Ovarian Failure 9

GO Terms for Premature Ovarian Failure 9

Sources for Premature Ovarian Failure 9

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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