POF2B
MCID: PRM091
MIFTS: 25

Premature Ovarian Failure 2b (POF2B)

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

Aliases & Classifications for Premature Ovarian Failure 2b

MalaCards integrated aliases for Premature Ovarian Failure 2b:

Name: Premature Ovarian Failure 2b 57 72 29 13 6 70
Pof2b 57 72
Ovarian Failure, Premature, Type 2b 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
based on report of 5 sisters (last curated april 2017)


HPO:

31
premature ovarian failure 2b:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM® 57 300604
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
MedGen 41 C1845105
UMLS 70 C1845105

Summaries for Premature Ovarian Failure 2b

UniProtKB/Swiss-Prot : 72 Premature ovarian failure 2B: 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 2b, also known as pof2b, is related to syndromic x-linked intellectual disability and non-syndromic x-linked intellectual disability. An important gene associated with Premature Ovarian Failure 2b is POF1B (POF1B Actin Binding Protein). Related phenotypes are premature ovarian insufficiency and abnormality of the dentition

More information from OMIM: 300604 PS311360

Related Diseases for Premature Ovarian Failure 2b

Symptoms & Phenotypes for Premature Ovarian Failure 2b

Human phenotypes related to Premature Ovarian Failure 2b:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 premature ovarian insufficiency 31 obligate (100%) HP:0008209
2 abnormality of the dentition 31 HP:0000164
3 delayed puberty 31 HP:0000823
4 osteoporosis 31 HP:0000939
5 primary amenorrhea 31 HP:0000786
6 tall stature 31 HP:0000098

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
delayed puberty
primary amenorrhea
ovarian failure, premature

Skeletal:
osteoporosis

Head And Neck Teeth:
dental anomalies ('weak teeth')

Endocrine Features:
delayed puberty

Laboratory Abnormalities:
low estradiol level
elevated follicular-stimulating hormone (fsh) level

Clinical features from OMIM®:

300604 (Updated 05-Apr-2021)

Drugs & Therapeutics for Premature Ovarian Failure 2b

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 2b

Genetic Tests for Premature Ovarian Failure 2b

Genetic tests related to Premature Ovarian Failure 2b:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 2b 29 POF1B

Anatomical Context for Premature Ovarian Failure 2b

Publications for Premature Ovarian Failure 2b

Articles related to Premature Ovarian Failure 2b:

# Title Authors PMID Year
1
Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. 6 57
16773570 2006
2
Premature ovarian failure caused by a heterozygous missense mutation in POF1B and a reciprocal translocation 46,X,t(X;3)(q21.1;q21.3). 6
25676666 2015
3
The POF1B candidate gene for premature ovarian failure regulates epithelial polarity. 6
21940798 2011
4
Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. 6
15459172 2004

Variations for Premature Ovarian Failure 2b

ClinVar genetic disease variations for Premature Ovarian Failure 2b:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POF1B NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) SNV Conflicting interpretations of pathogenicity 10794 rs75398746 GRCh37: X:84563194-84563194
GRCh38: X:85308188-85308188
2 POF1B NM_024921.4(POF1B):c.1348C>A (p.Gln450Lys) SNV Uncertain significance 914879 GRCh37: X:84560886-84560886
GRCh38: X:85305880-85305880
3 POF1B NM_024921.4(POF1B):c.*1744A>G SNV Uncertain significance 914837 GRCh37: X:84532683-84532683
GRCh38: X:85277677-85277677
4 POF1B NM_024921.4(POF1B):c.1595A>G (p.Tyr532Cys) SNV Uncertain significance 914877 GRCh37: X:84558466-84558466
GRCh38: X:85303460-85303460
5 POF1B NM_024921.4(POF1B):c.1402A>C (p.Arg468=) SNV Uncertain significance 914878 GRCh37: X:84560832-84560832
GRCh38: X:85305826-85305826
6 POF1B NM_024921.4(POF1B):c.*835C>T SNV Uncertain significance 368768 rs1057516019 GRCh37: X:84533592-84533592
GRCh38: X:85278586-85278586
7 POF1B NM_024921.4(POF1B):c.*132T>C SNV Uncertain significance 368778 rs1057516021 GRCh37: X:84534295-84534295
GRCh38: X:85279289-85279289
8 POF1B NM_024921.4(POF1B):c.*635T>C SNV Uncertain significance 368772 rs764766864 GRCh37: X:84533792-84533792
GRCh38: X:85278786-85278786
9 POF1B NM_024921.4(POF1B):c.*1686G>T SNV Uncertain significance 368761 rs1057516017 GRCh37: X:84532741-84532741
GRCh38: X:85277735-85277735
10 POF1B NM_024921.4(POF1B):c.*1112G>A SNV Uncertain significance 368766 rs1057516018 GRCh37: X:84533315-84533315
GRCh38: X:85278309-85278309
11 POF1B NM_024921.4(POF1B):c.*584A>C SNV Uncertain significance 368773 rs1057516020 GRCh37: X:84533843-84533843
GRCh38: X:85278837-85278837
12 POF1B NM_024921.4(POF1B):c.76C>T (p.Gln26Ter) SNV Uncertain significance 632054 rs780628376 GRCh37: X:84634384-84634384
GRCh38: X:85379379-85379379
13 POF1B NM_024921.4(POF1B):c.*1113T>G SNV Uncertain significance 912883 GRCh37: X:84533314-84533314
GRCh38: X:85278308-85278308
14 POF1B NM_024921.4(POF1B):c.*837T>G SNV Uncertain significance 912884 GRCh37: X:84533590-84533590
GRCh38: X:85278584-85278584
15 POF1B NM_024921.4(POF1B):c.*780G>A SNV Uncertain significance 912885 GRCh37: X:84533647-84533647
GRCh38: X:85278641-85278641
16 POF1B NM_024921.4(POF1B):c.960G>A (p.Met320Ile) SNV Uncertain significance 912929 GRCh37: X:84563220-84563220
GRCh38: X:85308214-85308214
17 POF1B NM_024921.4(POF1B):c.220G>T (p.Val74Leu) SNV Uncertain significance 912930 GRCh37: X:84634240-84634240
GRCh38: X:85379235-85379235
18 POF1B NM_024921.4(POF1B):c.*484C>T SNV Uncertain significance 913265 GRCh37: X:84533943-84533943
GRCh38: X:85278937-85278937
19 POF1B NM_024921.4(POF1B):c.85C>A (p.His29Asn) SNV Likely benign 913301 GRCh37: X:84634375-84634375
GRCh38: X:85379370-85379370
20 POF1B NM_024921.4(POF1B):c.*686C>G SNV Likely benign 913264 GRCh37: X:84533741-84533741
GRCh38: X:85278735-85278735
21 POF1B NM_024921.4(POF1B):c.*44_*45insG Insertion Likely benign 368779 rs112147894 GRCh37: X:84534382-84534383
GRCh38: X:85279376-85279377
22 POF1B NM_024921.4(POF1B):c.1644T>C (p.Thr548=) SNV Likely benign 368782 rs147026080 GRCh37: X:84558417-84558417
GRCh38: X:85303411-85303411
23 POF1B NM_024921.4(POF1B):c.1300C>A (p.Gln434Lys) SNV Likely benign 368786 rs139385491 GRCh37: X:84561204-84561204
GRCh38: X:85306198-85306198
24 POF1B NM_024921.4(POF1B):c.*42T>G SNV Likely benign 368781 rs372539151 GRCh37: X:84534385-84534385
GRCh38: X:85279379-85279379
25 POF1B NM_024921.4(POF1B):c.1383G>A (p.Thr461=) SNV Likely benign 713840 rs143899687 GRCh37: X:84560851-84560851
GRCh38: X:85305845-85305845
26 ZNF711 , POF1B NM_024921.4(POF1B):c.*1173C>A SNV Likely benign 368765 rs7062790 GRCh37: X:84533254-84533254
GRCh38: X:85278248-85278248
27 POF1B , ZNF711 NM_001330574.2(ZNF711):c.*1260G>A SNV Likely benign 368757 rs73234669 GRCh37: X:84528094-84528094
GRCh38: X:85273088-85273088
28 ZNF711 , POF1B NM_024921.4(POF1B):c.*1808A>G SNV Likely benign 368760 rs56307558 GRCh37: X:84532619-84532619
GRCh38: X:85277613-85277613
29 POF1B , ZNF711 NM_001330574.2(ZNF711):c.*1411G>A SNV Likely benign 368758 rs779890560 GRCh37: X:84528245-84528245
GRCh38: X:85273239-85273239
30 POF1B , ZNF711 NM_001330574.2(ZNF711):c.*632A>G SNV Benign 368755 rs6653049 GRCh37: X:84527466-84527466
GRCh38: X:85272460-85272460
31 ZNF711 , POF1B NM_024921.4(POF1B):c.*1849G>A SNV Benign 368759 rs73513629 GRCh37: X:84532578-84532578
GRCh38: X:85277572-85277572
32 ZNF711 , POF1B NM_024921.4(POF1B):c.*1626G>A SNV Benign 368762 rs16980188 GRCh37: X:84532801-84532801
GRCh38: X:85277795-85277795
33 POF1B NM_024921.4(POF1B):c.1371C>G (p.Gly457=) SNV Benign 368785 rs141543848 GRCh37: X:84560863-84560863
GRCh38: X:85305857-85305857
34 ZNF711 , POF1B NM_024921.4(POF1B):c.*1431A>C SNV Benign 368763 rs16980189 GRCh37: X:84532996-84532996
GRCh38: X:85277990-85277990
35 POF1B NM_024921.4(POF1B):c.1566+10G>A SNV Benign 730366 rs363785 GRCh37: X:84559339-84559339
GRCh38: X:85304333-85304333
36 POF1B NM_024921.4(POF1B):c.*1380T>G SNV Benign 368764 rs188108033 GRCh37: X:84533047-84533047
GRCh38: X:85278041-85278041
37 POF1B NM_024921.4(POF1B):c.1374C>T (p.Asn458=) SNV Benign 368784 rs73627353 GRCh37: X:84560860-84560860
GRCh38: X:85305854-85305854
38 POF1B NM_024921.4(POF1B):c.1045A>T (p.Met349Leu) SNV Benign 368787 rs363774 GRCh37: X:84563135-84563135
GRCh38: X:85308129-85308129
39 POF1B NM_024921.4(POF1B):c.619C>T (p.Pro207Ser) SNV Benign 368790 rs363766 GRCh37: X:84600970-84600970
GRCh38: X:85345964-85345964
40 POF1B NM_024921.4(POF1B):c.*1019C>A SNV Benign 368767 rs12557804 GRCh37: X:84533408-84533408
GRCh38: X:85278402-85278402
41 POF1B NM_024921.4(POF1B):c.*755G>A SNV Benign 368770 rs41310691 GRCh37: X:84533672-84533672
GRCh38: X:85278666-85278666
42 POF1B NM_024921.4(POF1B):c.716G>C (p.Cys239Ser) SNV Benign 368788 rs147563033 GRCh37: X:84600873-84600873
GRCh38: X:85345867-85345867
43 POF1B NM_024921.4(POF1B):c.*368G>T SNV Benign 368774 rs6617041 GRCh37: X:84534059-84534059
GRCh38: X:85279053-85279053
44 POF1B NM_024921.4(POF1B):c.113A>C (p.Gln38Pro) SNV Benign 368791 rs142588591 GRCh37: X:84634347-84634347
GRCh38: X:85379342-85379342
45 POF1B NM_024921.4(POF1B):c.*669T>C SNV Benign 368771 rs41300878 GRCh37: X:84533758-84533758
GRCh38: X:85278752-85278752
46 POF1B NM_024921.4(POF1B):c.*268T>G SNV Benign 368777 rs12007581 GRCh37: X:84534159-84534159
GRCh38: X:85279153-85279153
47 POF1B NM_024921.4(POF1B):c.*44T>G SNV Benign 368780 rs2227090 GRCh37: X:84534383-84534383
GRCh38: X:85279377-85279377
48 POF1B NM_024921.4(POF1B):c.1572C>G (p.Leu524=) SNV Benign 368783 rs363754 GRCh37: X:84558489-84558489
GRCh38: X:85303483-85303483
49 POF1B NM_024921.4(POF1B):c.-61C>T SNV Benign 368792 rs182593926 GRCh37: X:84634663-84634663
GRCh38: X:85379658-85379658
50 POF1B NM_024921.4(POF1B):c.641A>G (p.Gln214Arg) SNV Benign 368789 rs60768249 GRCh37: X:84600948-84600948
GRCh38: X:85345942-85345942

UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 2b:

72
# Symbol AA change Variation ID SNP ID
1 POF1B p.Arg329Gln VAR_028757 rs75398746

Expression for Premature Ovarian Failure 2b

Search GEO for disease gene expression data for Premature Ovarian Failure 2b.

Pathways for Premature Ovarian Failure 2b

GO Terms for Premature Ovarian Failure 2b

Sources for Premature Ovarian Failure 2b

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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