MCID: PRM094
MIFTS: 17

Premature Ovarian Failure 5

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 5

MalaCards integrated aliases for Premature Ovarian Failure 5:

Name: Premature Ovarian Failure 5 53 71 28 13 69
Pof5 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic variability, intrafamilial


HPO:

31
premature ovarian failure 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 611548
MedGen 39 C1969060
MeSH 41 D016649
UMLS 69 C1969060

Summaries for Premature Ovarian Failure 5

UniProtKB/Swiss-Prot : 71 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, and has symptoms including primary amenorrhea, secondary amenorrhea and premature ovarian insufficiency. An important gene associated with Premature Ovarian Failure 5 is NOBOX (NOBOX Oogenesis Homeobox). Affiliated tissues include ovary.

Description from OMIM: 611548

Related Diseases for Premature Ovarian Failure 5

Symptoms & Phenotypes for Premature Ovarian Failure 5

Symptoms via clinical synopsis from OMIM:

53
Genitourinary Internal Genitalia Female:
secondary amenorrhea (in most patients)
primary amenorrhea (in some patients)
delayed or absent puberty (in some patients)
ovaries normal to small by ultrasound
reduced or absent follicles by ultrasound
more
Endocrine Features:
elevated follicle-stimulating hormone (fsh) level
elevated luteinizing hormone (lh) level
low estradiol level
low inhibin b level
low anti-mullerian hormone (amh) level


Clinical features from OMIM:

611548

Human phenotypes related to Premature Ovarian Failure 5:

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

Drugs & Therapeutics for Premature Ovarian Failure 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inovium Ovarian Rejuvenation Trials Recruiting NCT03178695 Phase 1

Search 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 28 NOBOX

Anatomical Context for Premature Ovarian Failure 5

MalaCards organs/tissues related to Premature Ovarian Failure 5:

38
Ovary

Publications for Premature Ovarian Failure 5

Variations for Premature Ovarian Failure 5

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

71
# 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

ClinVar genetic disease variations for Premature Ovarian Failure 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NOBOX NM_001080413.3(NOBOX): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic rs193303102 GRCh38 Chromosome 7, 144400250: 144400250
2 NOBOX NM_001080413.3(NOBOX): c.271G> T (p.Gly91Trp) single nucleotide variant Pathogenic rs77587352 GRCh38 Chromosome 7, 144401890: 144401890
3 NOBOX NM_001080413.3(NOBOX): c.1025G> C (p.Ser342Thr) single nucleotide variant Pathogenic rs193303103 GRCh38 Chromosome 7, 144400132: 144400132
4 NOBOX NM_001080413.3(NOBOX): c.1048G> T (p.Val350Leu) single nucleotide variant Pathogenic rs193303104 GRCh38 Chromosome 7, 144399863: 144399863
5 NOBOX NM_001080413.3(NOBOX): c.1064G> A (p.Arg355His) single nucleotide variant Pathogenic rs201947677 GRCh37 Chromosome 7, 144096940: 144096940

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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