POF18
MCID: PRM349
MIFTS: 13

Premature Ovarian Failure 18 (POF18)

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

Aliases & Classifications for Premature Ovarian Failure 18

MalaCards integrated aliases for Premature Ovarian Failure 18:

Name: Premature Ovarian Failure 18 57 12 6
Pof18 57 12
Primary Ovarian Insufficiency 18 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0112269
OMIM® 57 619203
OMIM Phenotypic Series 57 PS311360

Summaries for Premature Ovarian Failure 18

OMIM® : 57 Premature ovarian failure-18 (POF18) is characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life. The uterus is small; ovaries may be small or rudimentary, and do not show follicular activity (Fan et al., 2021). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). (619203) (Updated 05-Apr-2021)

MalaCards based summary : Premature Ovarian Failure 18, is also known as pof18. An important gene associated with Premature Ovarian Failure 18 is C14orf39 (Chromosome 14 Open Reading Frame 39). Affiliated tissues include uterus.

Disease Ontology : 12 A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has material basis in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1.

Symptoms & Phenotypes for Premature Ovarian Failure 18

Clinical features from OMIM®:

619203 (Updated 05-Apr-2021)

Drugs & Therapeutics for Premature Ovarian Failure 18

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 18

Genetic Tests for Premature Ovarian Failure 18

Anatomical Context for Premature Ovarian Failure 18

MalaCards organs/tissues related to Premature Ovarian Failure 18:

40
Uterus

Publications for Premature Ovarian Failure 18

Articles related to Premature Ovarian Failure 18:

# Title Authors PMID Year
1
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. 6 57
33508233 2021

Variations for Premature Ovarian Failure 18

ClinVar genetic disease variations for Premature Ovarian Failure 18:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C14orf39 NM_174978.3(C14orf39):c.204_205del (p.His68fs) Deletion Pathogenic 992822 GRCh37: 14:60950437-60950438
GRCh38: 14:60483719-60483720

Expression for Premature Ovarian Failure 18

Search GEO for disease gene expression data for Premature Ovarian Failure 18.

Pathways for Premature Ovarian Failure 18

GO Terms for Premature Ovarian Failure 18

Sources for Premature Ovarian Failure 18

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
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