MCID: PRM094
MIFTS: 18

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 57 75 29 13 6 73
Pof5 57 75
Ovarian Failure, Premature, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic variability, intrafamilial


HPO:

32
premature ovarian failure 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 611548
MedGen 42 C1969060
MeSH 44 D016649
UMLS 73 C1969060

Summaries for Premature Ovarian Failure 5

UniProtKB/Swiss-Prot : 75 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 premature ovarian insufficiency and primary amenorrhea

Description from OMIM: 611548

Related Diseases for Premature Ovarian Failure 5

Symptoms & Phenotypes for Premature Ovarian Failure 5

Symptoms via clinical synopsis from OMIM:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 32 HP:0008209
2 primary amenorrhea 32 occasional (7.5%) HP:0000786
3 secondary amenorrhea 32 hallmark (90%) HP:0000869

Drugs & Therapeutics for Premature Ovarian Failure 5

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inovium Ovarian Rejuvenation Trials Completed 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 29 NOBOX

Anatomical Context for Premature Ovarian Failure 5

MalaCards organs/tissues related to Premature Ovarian Failure 5:

41
Ovary

Publications for Premature Ovarian Failure 5

Variations for Premature Ovarian Failure 5

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

75
# 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
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOBOX NM_001080413.3(NOBOX): c.1064G> A (p.Arg355His) single nucleotide variant Pathogenic rs201947677 GRCh37 Chromosome 7, 144096940: 144096940
2 NOBOX NM_001080413.3(NOBOX): c.1064G> A (p.Arg355His) single nucleotide variant Pathogenic rs201947677 GRCh38 Chromosome 7, 144399847: 144399847
3 NOBOX NM_001080413.3(NOBOX): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic rs193303102 GRCh38 Chromosome 7, 144400250: 144400250
4 NOBOX NM_001080413.3(NOBOX): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic rs193303102 GRCh37 Chromosome 7, 144097343: 144097343
5 NOBOX NM_001080413.3(NOBOX): c.271G> T (p.Gly91Trp) single nucleotide variant Pathogenic rs77587352 GRCh38 Chromosome 7, 144401890: 144401890
6 NOBOX NM_001080413.3(NOBOX): c.271G> T (p.Gly91Trp) single nucleotide variant Pathogenic rs77587352 GRCh37 Chromosome 7, 144098983: 144098983
7 NOBOX NM_001080413.3(NOBOX): c.349C> T (p.Arg117Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs7800847 GRCh38 Chromosome 7, 144401541: 144401541
8 NOBOX NM_001080413.3(NOBOX): c.349C> T (p.Arg117Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs7800847 GRCh37 Chromosome 7, 144098634: 144098634
9 NOBOX NM_001080413.3(NOBOX): c.1025G> C (p.Ser342Thr) single nucleotide variant Pathogenic rs193303103 GRCh38 Chromosome 7, 144400132: 144400132
10 NOBOX NM_001080413.3(NOBOX): c.1025G> C (p.Ser342Thr) single nucleotide variant Pathogenic rs193303103 GRCh37 Chromosome 7, 144097225: 144097225
11 NOBOX NM_001080413.3(NOBOX): c.1048G> T (p.Val350Leu) single nucleotide variant Pathogenic rs193303104 GRCh38 Chromosome 7, 144399863: 144399863
12 NOBOX NM_001080413.3(NOBOX): c.1048G> T (p.Val350Leu) single nucleotide variant Pathogenic rs193303104 GRCh37 Chromosome 7, 144096956: 144096956

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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