POF5
MCID: PRM094
MIFTS: 23

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 57 72 29 13 6 70
Pof5 57 72
Ovarian Failure, Premature, Type 5 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
phenotypic variability, intrafamilial


HPO:

31
premature ovarian failure 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 611548
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
MedGen 41 C1969060
UMLS 70 C1969060

Summaries for Premature Ovarian Failure 5

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are secondary amenorrhea and primary amenorrhea

More information from OMIM: 611548 PS311360

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®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

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. 57 6
25514101 2015
2
Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort. 57 6
21837770 2011
3
NOBOX homeobox mutation causes premature ovarian failure. 6 57
17701902 2007
4
Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure. 57
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 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOBOX NM_001080413.3(NOBOX):c.1025G>C (p.Ser342Thr) SNV Pathogenic 167876 rs193303103 GRCh37: 7:144097225-144097225
GRCh38: 7:144400132-144400132
2 NOBOX NM_001080413.3(NOBOX):c.1048G>T (p.Val350Leu) SNV Pathogenic 167877 rs193303104 GRCh37: 7:144096956-144096956
GRCh38: 7:144399863-144399863
3 NOBOX NM_001080413.3(NOBOX):c.907C>T (p.Arg303Ter) SNV Pathogenic 167873 rs193303102 GRCh37: 7:144097343-144097343
GRCh38: 7:144400250-144400250
4 NOBOX NM_001080413.3(NOBOX):c.138C>G (p.Tyr46Ter) SNV Pathogenic 998195 GRCh37: 7:144101721-144101721
GRCh38: 7:144404628-144404628
5 NOBOX NM_001080413.3(NOBOX):c.186_187insA (p.Cys63fs) Insertion Pathogenic 1033651 GRCh37: 7:144101672-144101673
GRCh38: 7:144404579-144404580
6 NOBOX NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp) SNV Pathogenic/Likely pathogenic 167874 rs77587352 GRCh37: 7:144098983-144098983
GRCh38: 7:144401890-144401890
7 NOBOX NM_001080413.3(NOBOX):c.1078C>T (p.Arg360Ter) SNV Likely pathogenic 812129 rs1218620893 GRCh37: 7:144096926-144096926
GRCh38: 7:144399833-144399833
8 NOBOX NM_001080413.3(NOBOX):c.85+10T>C SNV Uncertain significance 359158 rs545826617 GRCh37: 7:144107226-144107226
GRCh38: 7:144410133-144410133
9 NOBOX NM_001080413.3(NOBOX):c.1450T>C (p.Cys484Arg) SNV Uncertain significance 908269 GRCh37: 7:144096062-144096062
GRCh38: 7:144398969-144398969
10 NOBOX NM_001080413.3(NOBOX):c.1938A>G (p.Ser646=) SNV Uncertain significance 359132 rs116937127 GRCh37: 7:144094471-144094471
GRCh38: 7:144397378-144397378
11 NOBOX NM_001080413.3(NOBOX):c.265G>C (p.Val89Leu) SNV Uncertain significance 359151 rs182294424 GRCh37: 7:144098989-144098989
GRCh38: 7:144401896-144401896
12 NOBOX NM_001080413.3(NOBOX):c.1751T>G (p.Met584Arg) SNV Uncertain significance 359137 rs886062038 GRCh37: 7:144095398-144095398
GRCh38: 7:144398305-144398305
13 NOBOX NM_001080413.3(NOBOX):c.1031G>A (p.Arg344His) SNV Uncertain significance 359145 rs533330364 GRCh37: 7:144097219-144097219
GRCh38: 7:144400126-144400126
14 NOBOX NM_001080413.3(NOBOX):c.1900C>A (p.Pro634Thr) SNV Uncertain significance 359133 rs886062037 GRCh37: 7:144094509-144094509
GRCh38: 7:144397416-144397416
15 NOBOX NM_001080413.3(NOBOX):c.1774+11G>A SNV Uncertain significance 359136 rs749434230 GRCh37: 7:144095364-144095364
GRCh38: 7:144398271-144398271
16 NOBOX NM_001080413.3(NOBOX):c.130C>T (p.Arg44Trp) SNV Uncertain significance 359156 rs531700272 GRCh37: 7:144101729-144101729
GRCh38: 7:144404636-144404636
17 NOBOX NM_001080413.3(NOBOX):c.1698C>T (p.Ser566=) SNV Uncertain significance 359139 rs374879171 GRCh37: 7:144095451-144095451
GRCh38: 7:144398358-144398358
18 NOBOX NM_001080413.3(NOBOX):c.211-4G>C SNV Uncertain significance 359153 rs375312683 GRCh37: 7:144099047-144099047
GRCh38: 7:144401954-144401954
19 NOBOX NM_001080413.3(NOBOX):c.679C>T (p.Arg227Cys) SNV Uncertain significance 359146 rs762139523 GRCh37: 7:144098304-144098304
GRCh38: 7:144401211-144401211
20 NOBOX NM_001080413.3(NOBOX):c.1322C>G (p.Pro441Arg) SNV Uncertain significance 359143 rs767702371 GRCh37: 7:144096190-144096190
GRCh38: 7:144399097-144399097
21 NOBOX NM_001080413.3(NOBOX):c.1507C>G (p.Leu503Val) SNV Uncertain significance 359141 rs559175226 GRCh37: 7:144095642-144095642
GRCh38: 7:144398549-144398549
22 NOBOX NM_001080413.3(NOBOX):c.362C>G (p.Pro121Arg) SNV Uncertain significance 359149 rs187273709 GRCh37: 7:144098621-144098621
GRCh38: 7:144401528-144401528
23 NOBOX NM_001080413.3(NOBOX):c.1469+5G>A SNV Uncertain significance 1030082 GRCh37: 7:144096038-144096038
GRCh38: 7:144398945-144398945
24 NOBOX NM_001080413.3(NOBOX):c.1064G>C (p.Arg355Pro) SNV Uncertain significance 910209 GRCh37: 7:144096940-144096940
GRCh38: 7:144399847-144399847
25 NOBOX NM_001080413.3(NOBOX):c.1980C>G (p.Leu660=) SNV Uncertain significance 911029 GRCh37: 7:144094429-144094429
GRCh38: 7:144397336-144397336
26 NOBOX NM_001080413.3(NOBOX):c.1875T>C (p.Phe625=) SNV Uncertain significance 911030 GRCh37: 7:144094534-144094534
GRCh38: 7:144397441-144397441
27 NOBOX NM_001080413.3(NOBOX):c.1849C>T (p.His617Tyr) SNV Uncertain significance 911031 GRCh37: 7:144094560-144094560
GRCh38: 7:144397467-144397467
28 NOBOX NM_001080413.3(NOBOX):c.1048-10C>A SNV Uncertain significance 911105 GRCh37: 7:144096966-144096966
GRCh38: 7:144399873-144399873
29 NOBOX NM_001080413.3(NOBOX):c.908G>A (p.Arg303Gln) SNV Uncertain significance 911106 GRCh37: 7:144097342-144097342
GRCh38: 7:144400249-144400249
30 NOBOX NM_001080413.3(NOBOX):c.839G>A (p.Arg280His) SNV Uncertain significance 911107 GRCh37: 7:144098144-144098144
GRCh38: 7:144401051-144401051
31 NOBOX NM_001080413.3(NOBOX):c.703T>C (p.Cys235Arg) SNV Uncertain significance 911108 GRCh37: 7:144098280-144098280
GRCh38: 7:144401187-144401187
32 NOBOX NM_001080413.3(NOBOX):c.613A>G (p.Lys205Glu) SNV Uncertain significance 911109 GRCh37: 7:144098370-144098370
GRCh38: 7:144401277-144401277
33 NOBOX NM_001080413.3(NOBOX):c.1830C>G (p.Phe610Leu) SNV Uncertain significance 912267 GRCh37: 7:144094579-144094579
GRCh38: 7:144397486-144397486
34 NOBOX NM_001080413.3(NOBOX):c.1469+14G>A SNV Uncertain significance 908267 GRCh37: 7:144096029-144096029
GRCh38: 7:144398936-144398936
35 NOBOX NM_001080413.3(NOBOX):c.1447C>G (p.Pro483Ala) SNV Uncertain significance 910207 GRCh37: 7:144096065-144096065
GRCh38: 7:144398972-144398972
36 NOBOX NM_001080413.3(NOBOX):c.1079G>A (p.Arg360Gln) SNV Likely benign 910208 GRCh37: 7:144096925-144096925
GRCh38: 7:144399832-144399832
37 NOBOX NM_001080413.3(NOBOX):c.1469+13C>T SNV Likely benign 908268 GRCh37: 7:144096030-144096030
GRCh38: 7:144398937-144398937
38 NOBOX NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp) SNV Likely benign 167875 rs7800847 GRCh37: 7:144098634-144098634
GRCh38: 7:144401541-144401541
39 NOBOX NM_001080413.3(NOBOX):c.1826C>T (p.Pro609Leu) SNV Likely benign 791163 rs115882574 GRCh37: 7:144094583-144094583
GRCh38: 7:144397490-144397490
40 NOBOX NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu) SNV Likely benign 359148 rs187273709 GRCh37: 7:144098621-144098621
GRCh38: 7:144401528-144401528
41 NOBOX NM_001080413.3(NOBOX):c.1064G>A (p.Arg355His) SNV Likely benign 1083 rs201947677 GRCh37: 7:144096940-144096940
GRCh38: 7:144399847-144399847
42 NOBOX NM_001080413.3(NOBOX):c.138C>T (p.Tyr46=) SNV Likely benign 359154 rs370043070 GRCh37: 7:144101721-144101721
GRCh38: 7:144404628-144404628
43 NOBOX NM_001080413.3(NOBOX):c.210+11C>T SNV Likely benign 908329 GRCh37: 7:144101638-144101638
GRCh38: 7:144404545-144404545
44 NOBOX NM_001080413.3(NOBOX):c.210+7G>C SNV Likely benign 908330 GRCh37: 7:144101642-144101642
GRCh38: 7:144404549-144404549
45 NOBOX NM_001080413.3(NOBOX):c.1546C>T (p.Pro516Ser) SNV Likely benign 359140 rs531662858 GRCh37: 7:144095603-144095603
GRCh38: 7:144398510-144398510
46 NOBOX NM_001080413.3(NOBOX):c.1483C>A (p.Pro495Thr) SNV Likely benign 908266 GRCh37: 7:144095666-144095666
GRCh38: 7:144398573-144398573
47 NOBOX NM_001080413.3(NOBOX):c.68G>A (p.Gly23Asp) SNV Benign 909176 GRCh37: 7:144107253-144107253
GRCh38: 7:144410160-144410160
48 NOBOX NM_001080413.3(NOBOX):c.1154+11T>C SNV Benign 359144 rs757388 GRCh37: 7:144096839-144096839
GRCh38: 7:144399746-144399746
49 NOBOX NM_001080413.3(NOBOX):c.454G>A (p.Gly152Arg) SNV Benign 359147 rs201806397 GRCh37: 7:144098529-144098529
GRCh38: 7:144401436-144401436
50 NOBOX NM_001080413.3(NOBOX):c.1796C>A (p.Pro599His) SNV Benign 359135 rs1208216 GRCh37: 7:144094613-144094613
GRCh38: 7:144397520-144397520

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

72
# 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
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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