MCID: PRM089
MIFTS: 11

Premature Ovarian Failure 3 malady

Genetic diseases, Reproductive diseases, Rare diseases categories
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Summaries for Premature Ovarian Failure 3

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MalaCards based summary: Premature Ovarian Failure 3 is related to premature ovarian failure, and has symptoms including An important gene associated with Premature Ovarian Failure 3 is FOXL2 (forkhead box L2).

Description from OMIM:46 608996

Aliases & Classifications for Premature Ovarian Failure 3

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Premature Ovarian Failure 3, Aliases & Descriptions:

Name: Premature Ovarian Failure 3 46 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Reproductive diseases


Related Diseases for Premature Ovarian Failure 3

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Diseases in the Premature Ovarian Failure family:

Premature Ovarian Failure, Familial Premature Ovarian Failure 7
Premature Ovarian Failure 5 Premature Ovarian Failure 6
Premature Ovarian Failure 2a Premature Ovarian Failure 2b
Premature Ovarian Failure 9 premature ovarian failure 3
Premature Ovarian Failure 8 Premature Ovarian Failure 4

Diseases related to Premature Ovarian Failure 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1premature ovarian failure10.4

Symptoms for Premature Ovarian Failure 3

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Clinical features from OMIM:

608996

HPO human phenotypes related to Premature Ovarian Failure 3:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 premature ovarian failure HP:0008209

Drugs & Therapeutics for Premature Ovarian Failure 3

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Drug clinical trials:

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Search NIH Clinical Center for Premature Ovarian Failure 3

Genetic Tests for Premature Ovarian Failure 3

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Anatomical Context for Premature Ovarian Failure 3

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Animal Models for Premature Ovarian Failure 3 or affiliated genes

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Publications for Premature Ovarian Failure 3

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Articles related to Premature Ovarian Failure 3:

idTitleAuthorsYear
1
Premature ovarian failure 3 years after menarche in a 16-year-old girl following human papillomavirus vaccination. (23035167)
2012

Variations for Premature Ovarian Failure 3

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UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 3:

64
id Symbol AA change Variation ID SNP ID
1FOXL2p.Gly187AspVAR_015181
2FOXL2p.Tyr258AsnVAR_021204rs28937885

Clinvar genetic disease variations for Premature Ovarian Failure 3:

6
id Gene Name Type Significance SNP ID Assembly Location
1FOXL2FOXL2, 30-BP DEL, NT898deletionPathogenic
2FOXL2NM_023067.3(FOXL2): c.772T> A (p.Tyr258Asn)single nucleotide variantPathogenicrs28937885GRCh37Chr 3, 138664793: 138664793
3FOXL2NM_023067.3(FOXL2): c.560G> A (p.Gly187Asp)single nucleotide variantPathogenicrs121908359GRCh37Chr 3, 138665005: 138665005

Expression for genes affiliated with Premature Ovarian Failure 3

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Expression patterns in normal tissues for genes affiliated with Premature Ovarian Failure 3

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Pathways for genes affiliated with Premature Ovarian Failure 3

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Compounds for genes affiliated with Premature Ovarian Failure 3

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GO Terms for genes affiliated with Premature Ovarian Failure 3

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Products for genes affiliated with Premature Ovarian Failure 3

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  • Antibodies
  • Proteins
  • Lysates

Sources for Premature Ovarian Failure 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet