POF19
MCID: PRM368
MIFTS: 13

Premature Ovarian Failure 19 (POF19)

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

Aliases & Classifications for Premature Ovarian Failure 19

MalaCards integrated aliases for Premature Ovarian Failure 19:

Name: Premature Ovarian Failure 19 57 6
Pof19 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 3 sisters (last curated march 2021)


Classifications:



External Ids:

OMIM® 57 619245
OMIM Phenotypic Series 57 PS311360

Summaries for Premature Ovarian Failure 19

OMIM® : 57 Premature ovarian failure-19 (POF19) is characterized by irregular menses that cease in the third decade of life, associated with infertility (Felipe-Medina et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). (619245) (Updated 20-May-2021)

MalaCards based summary : Premature Ovarian Failure 19, is also known as pof19. An important gene associated with Premature Ovarian Failure 19 is HSF2BP (Heat Shock Transcription Factor 2 Binding Protein).

Symptoms & Phenotypes for Premature Ovarian Failure 19

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
infertility
irregular menses
early secondary amenorrhea

Clinical features from OMIM®:

619245 (Updated 20-May-2021)

Drugs & Therapeutics for Premature Ovarian Failure 19

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 19

Genetic Tests for Premature Ovarian Failure 19

Anatomical Context for Premature Ovarian Failure 19

Publications for Premature Ovarian Failure 19

Articles related to Premature Ovarian Failure 19:

(showing 2, show less)
# Title Authors PMID Year
1
A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1. 6 57
32845237 2020
2
Genomic characterization, expression analysis, and antimicrobial function of a glyrichin homologue from rock bream, Oplegnathus fasciatus. 61
23968692 2013

Variations for Premature Ovarian Failure 19

ClinVar genetic disease variations for Premature Ovarian Failure 19:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSF2BP NM_007031.2(HSF2BP):c.500C>T (p.Ser167Leu) SNV Pathogenic 1047933 GRCh37: 21:45050277-45050277
GRCh38: 21:43630396-43630396

Expression for Premature Ovarian Failure 19

Search GEO for disease gene expression data for Premature Ovarian Failure 19.

Pathways for Premature Ovarian Failure 19

GO Terms for Premature Ovarian Failure 19

Sources for Premature Ovarian Failure 19

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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