POF9
MCID: PRM191
MIFTS: 20

Premature Ovarian Failure 9 (POF9)

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

Aliases & Classifications for Premature Ovarian Failure 9

MalaCards integrated aliases for Premature Ovarian Failure 9:

Name: Premature Ovarian Failure 9 57 72 29 6 70
Pof9 57 72
Ovarian Failure, Premature, Type 9 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
premature ovarian failure 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615724
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
SNOMED-CT via HPO 68 258211005 373717006
UMLS 70 C3810376

Summaries for Premature Ovarian Failure 9

OMIM® : 57 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) (Updated 05-Apr-2021)

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). Related phenotypes are increased circulating gonadotropin level and premature ovarian insufficiency

UniProtKB/Swiss-Prot : 72 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.

Symptoms & Phenotypes for Premature Ovarian Failure 9

Human phenotypes related to Premature Ovarian Failure 9:

31
# Description HPO Frequency HPO Source Accession
1 increased circulating gonadotropin level 31 HP:0000837
2 premature ovarian insufficiency 31 HP:0008209
3 amenorrhea 31 HP:0000141

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Premature Ovarian Failure 9

Search Clinical Trials , 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 29 HFM1

Anatomical Context for Premature Ovarian Failure 9

Publications for Premature Ovarian Failure 9

Articles related to Premature Ovarian Failure 9:

# Title Authors PMID Year
1
Mutations in HFM1 in recessive primary ovarian insufficiency. 6 57
24597873 2014
2
Hfm1 participates in Golgi-associated spindle assembly and division in mouse oocyte meiosis. 61
32606310 2020

Variations for Premature Ovarian Failure 9

ClinVar genetic disease variations for Premature Ovarian Failure 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HFM1 NM_001017975.5(HFM1):c.1686G>C (p.Arg562Ser) SNV Pathogenic 126428 rs730880018 GRCh37: 1:91818856-91818856
GRCh38: 1:91353299-91353299
2 HFM1 NM_001017975.5(HFM1):c.2651T>G (p.Ile884Ser) SNV Pathogenic 126429 rs587777268 GRCh37: 1:91784879-91784879
GRCh38: 1:91319322-91319322
3 HFM1 NM_001017975.5(HFM1):c.2206G>A (p.Gly736Ser) SNV Pathogenic 126430 rs587777269 GRCh37: 1:91816295-91816295
GRCh38: 1:91350738-91350738
4 HFM1 NM_001017975.5(HFM1):c.3929_3930delinsG (p.Pro1310fs) Indel Pathogenic 126431 rs587777270 GRCh37: 1:91731618-91731619
GRCh38: 1:91266061-91266062
5 HFM1 NM_001017975.6(HFM1):c.1905T>A (p.Tyr635Ter) SNV Pathogenic 996213 GRCh37: 1:91818135-91818135
GRCh38: 1:91352578-91352578
6 HFM1 NM_001017975.6(HFM1):c.2092G>T (p.Glu698Ter) SNV Pathogenic 1032543 GRCh37: 1:91816409-91816409
GRCh38: 1:91350852-91350852
7 HFM1 NM_001017975.5(HFM1):c.4061del (p.Pro1354fs) Deletion Uncertain significance 561186 rs1557742504 GRCh37: 1:91728063-91728063
GRCh38: 1:91262506-91262506

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

72
# Symbol AA change Variation ID SNP ID
1 HFM1 p.Gly736Ser VAR_071262 rs587777269
2 HFM1 p.Ile884Ser VAR_071263 rs587777268

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....