Premature Ovarian Failure 9 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Premature Ovarian Failure 9

MalaCards integrated aliases for Premature Ovarian Failure 9:

Name: Premature Ovarian Failure 9 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Pof9 ⁵⁶ ⁷³

Ovarian Failure, Premature, Type 9 ³⁹

Characteristics:

OMIM:

⁵⁶

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Reproductive diseases Endocrine diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 615724

OMIM Phenotypic Series ⁵⁶ PS311360

MeSH ⁴³ D016649

MedGen ⁴¹ C3810376 CN185546

SNOMED-CT via HPO ⁶⁸ 258211005 373717006

UMLS ⁷¹ C3810376

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Summaries for Premature Ovarian Failure 9

OMIM : ⁵⁶ 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). Affiliated tissues include ovary, and related phenotypes are increased circulating gonadotropin level and premature ovarian insufficiency

UniProtKB/Swiss-Prot : ⁷³ 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.

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Related Diseases for Premature Ovarian Failure 9

Diseases in the Premature Ovarian Failure 2a family:

Premature Ovarian Failure 2b	Premature Ovarian Failure 1
Premature Ovarian Failure 3	Premature Ovarian Failure 5
Premature Ovarian Failure 6	Premature Ovarian Failure 10
Premature Ovarian Failure 7	Premature Ovarian Failure 8
Premature Ovarian Failure 9	Premature Ovarian Failure 11
Premature Ovarian Failure 12	Premature Ovarian Failure 13
Premature Ovarian Failure 14	Premature Ovarian Failure 15
Premature Ovarian Failure 16	Acquired Premature Ovarian Failure

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Symptoms & Phenotypes for Premature Ovarian Failure 9

Human phenotypes related to Premature Ovarian Failure 9:

³¹

#	Description	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:

⁵⁶

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

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Drugs & Therapeutics for Premature Ovarian Failure 9

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 9

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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

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Anatomical Context for Premature Ovarian Failure 9

MalaCards organs/tissues related to Premature Ovarian Failure 9:

⁴⁰

Ovary

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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 ⁵⁶	Wang J...Primary Ovarian Insufficiency Collaboration	24597873	2014

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Genes for Premature Ovarian Failure 9

Genes related to Premature Ovarian Failure 9 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HFM1	Helicase For Meiosis 1	Protein Coding	1328.07	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	24597873

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Variations for Premature Ovarian Failure 9

ClinVar genetic disease variations for Premature Ovarian Failure 9:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	HFM1	NM_001017975.5(HFM1):c.1686G>C (p.Arg562Ser)	SNV	Pathogenic	126428	rs730880018	1:91818856-91818856	1:91353299-91353299
2	HFM1	NM_001017975.5(HFM1):c.2651T>G (p.Ile884Ser)	SNV	Pathogenic	126429	rs587777268	1:91784879-91784879	1:91319322-91319322
3	HFM1	NM_001017975.5(HFM1):c.2206G>A (p.Gly736Ser)	SNV	Pathogenic	126430	rs587777269	1:91816295-91816295	1:91350738-91350738
4	HFM1	NM_001017975.5(HFM1):c.3929_3930delinsG (p.Pro1310fs)	indel	Pathogenic	126431	rs587777270	1:91731618-91731619	1:91266061-91266062
5	HFM1	NM_001017975.5(HFM1):c.4061del (p.Pro1354fs)	deletion	Uncertain significance	561186	rs1557742504	1:91728063-91728063	1:91262506-91262506

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

⁷³

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

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Expression for Premature Ovarian Failure 9

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

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Pathways for Premature Ovarian Failure 9

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GO Terms for Premature Ovarian Failure 9

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Sources for Premature Ovarian Failure 9

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Premature Ovarian Failure 9 (POF9)

Aliases & Classifications for Premature Ovarian Failure 9

MalaCards integrated aliases for Premature Ovarian Failure 9:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Premature Ovarian Failure 9

Related Diseases for Premature Ovarian Failure 9

Diseases in the Premature Ovarian Failure 2a family:

Symptoms & Phenotypes for Premature Ovarian Failure 9

Human phenotypes related to Premature Ovarian Failure 9:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Premature Ovarian Failure 9

Genetic Tests for Premature Ovarian Failure 9

Genetic tests related to Premature Ovarian Failure 9:

Anatomical Context for Premature Ovarian Failure 9

MalaCards organs/tissues related to Premature Ovarian Failure 9:

Publications for Premature Ovarian Failure 9

Articles related to Premature Ovarian Failure 9:

Genes for Premature Ovarian Failure 9

Genes related to Premature Ovarian Failure 9 (1 elite genes):

Variations for Premature Ovarian Failure 9

ClinVar genetic disease variations for Premature Ovarian Failure 9:

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

Expression for Premature Ovarian Failure 9

Pathways for Premature Ovarian Failure 9

GO Terms for Premature Ovarian Failure 9

Sources for Premature Ovarian Failure 9