POF5
MCID: PRM094
MIFTS: 22

Premature Ovarian Failure 5 (POF5)

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

Aliases & Classifications for Premature Ovarian Failure 5

MalaCards integrated aliases for Premature Ovarian Failure 5:

Name: Premature Ovarian Failure 5 56 73 29 13 6 71
Pof5 56 73
Ovarian Failure, Premature, Type 5 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic variability, intrafamilial


HPO:

31
premature ovarian failure 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 611548
OMIM Phenotypic Series 56 PS311360
MeSH 43 D016649
MedGen 41 C1969060
UMLS 71 C1969060

Summaries for Premature Ovarian Failure 5

UniProtKB/Swiss-Prot : 73 Premature ovarian failure 5: 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.

MalaCards based summary : Premature Ovarian Failure 5, is also known as pof5. An important gene associated with Premature Ovarian Failure 5 is NOBOX (NOBOX Oogenesis Homeobox). Affiliated tissues include ovary, and related phenotypes are secondary amenorrhea and primary amenorrhea

More information from OMIM: 611548 PS311360

Related Diseases for Premature Ovarian Failure 5

Symptoms & Phenotypes for Premature Ovarian Failure 5

Human phenotypes related to Premature Ovarian Failure 5:

31
# Description HPO Frequency HPO Source Accession
1 secondary amenorrhea 31 hallmark (90%) HP:0000869
2 primary amenorrhea 31 occasional (7.5%) HP:0000786
3 premature ovarian insufficiency 31 HP:0008209

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
low estradiol level
elevated follicle-stimulating hormone (fsh) level
elevated luteinizing hormone (lh) level
low inhibin b level
low anti-mullerian hormone (amh) level

Genitourinary Internal Genitalia Female:
primary amenorrhea (in some patients)
secondary amenorrhea (in most patients)
delayed or absent puberty (in some patients)
ovaries normal to small by ultrasound
reduced or absent follicles by ultrasound
more

Clinical features from OMIM:

611548

Drugs & Therapeutics for Premature Ovarian Failure 5

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 5

Genetic Tests for Premature Ovarian Failure 5

Genetic tests related to Premature Ovarian Failure 5:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 5 29 NOBOX

Anatomical Context for Premature Ovarian Failure 5

MalaCards organs/tissues related to Premature Ovarian Failure 5:

40
Ovary

Publications for Premature Ovarian Failure 5

Articles related to Premature Ovarian Failure 5:

# Title Authors PMID Year
1
New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression. 56 6
25514101 2015
2
Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. 6 56
21837770 2011
3
NOBOX homeobox mutation causes premature ovarian failure. 56 6
17701902 2007
4
Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure. 56
19411303 2009
5
Involvement of matrix metalloproteinases (MMP-2, -7, -9) and their tissue inhibitors (TIMP-2, -3) in the regression of chicken postovulatory follicles. 61
29438675 2018
6
Caspase-mediated apoptosis in chicken postovulatory follicle regression. 61
17564810 2008
7
Nitric oxide: a possible mediator of ovulation and postovulatory follicle regression in chicken. 61
17306940 2007

Variations for Premature Ovarian Failure 5

ClinVar genetic disease variations for Premature Ovarian Failure 5:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOBOX NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His)SNV Pathogenic 1083 rs201947677 7:144096940-144096940 7:144399847-144399847
2 NOBOX NM_001080413.3(NOBOX):c.907C>T (p.Arg303Ter)SNV Pathogenic 167873 rs193303102 7:144097343-144097343 7:144400250-144400250
3 NOBOX NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp)SNV Pathogenic 167874 rs77587352 7:144098983-144098983 7:144401890-144401890
4 NOBOX NM_001080413.3(NOBOX):c.1025G>C (p.Ser342Thr)SNV Pathogenic 167876 rs193303103 7:144097225-144097225 7:144400132-144400132
5 NOBOX NM_001080413.3(NOBOX):c.1048G>T (p.Val350Leu)SNV Pathogenic 167877 rs193303104 7:144096956-144096956 7:144399863-144399863
6 NOBOX NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp)SNV Benign/Likely benign 167875 rs7800847 7:144098634-144098634 7:144401541-144401541

UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 5:

73
# Symbol AA change Variation ID SNP ID
1 NOBOX p.Arg355His VAR_036636 rs201947677
2 NOBOX p.Ser342Thr VAR_066014 rs193303103
3 NOBOX p.Val350Leu VAR_066015 rs193303104

Expression for Premature Ovarian Failure 5

Search GEO for disease gene expression data for Premature Ovarian Failure 5.

Pathways for Premature Ovarian Failure 5

GO Terms for Premature Ovarian Failure 5

Sources for Premature Ovarian Failure 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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