MCID: PRM091
MIFTS: 18

Premature Ovarian Failure 2b

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 2b

MalaCards integrated aliases for Premature Ovarian Failure 2b:

Name: Premature Ovarian Failure 2b 57 75 29 13 6 73
Pof2b 57 75
Ovarian Failure, Premature, Type 2b 40

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

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


HPO:

32
premature ovarian failure 2b:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300604
MedGen 42 C1845105
MeSH 44 D016649
UMLS 73 C1845105

Summaries for Premature Ovarian Failure 2b

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Premature Ovarian Failure 2b is POF1B (POF1B, Actin Binding Protein). Related phenotypes are tall stature and abnormality of the dentition

Description from OMIM: 300604

Related Diseases for Premature Ovarian Failure 2b

Symptoms & Phenotypes for Premature Ovarian Failure 2b

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
dental anomalies ('weak teeth')

Skeletal:
osteoporosis

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

Genitourinary Internal Genitalia Female:
delayed puberty
primary amenorrhea
ovarian failure, premature

Endocrine Features:
delayed puberty


Clinical features from OMIM:

300604

Human phenotypes related to Premature Ovarian Failure 2b:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 tall stature 32 HP:0000098
2 abnormality of the dentition 32 HP:0000164
3 primary amenorrhea 32 HP:0000786
4 delayed puberty 32 HP:0000823
5 osteoporosis 32 HP:0000939
6 premature ovarian insufficiency 32 obligate (100%) HP:0008209

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

Variations for Premature Ovarian Failure 2b

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

75
# Symbol AA change Variation ID SNP ID
1 POF1B p.Arg329Gln VAR_028757 rs75398746

ClinVar genetic disease variations for Premature Ovarian Failure 2b:

6
(show top 50) (show all 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 POF1B; ZNF711 NM_021998.4(ZNF711): c.*1260G> A single nucleotide variant Likely benign rs73234669 GRCh37 Chromosome X, 84528094: 84528094
2 POF1B; ZNF711 NM_021998.4(ZNF711): c.*1260G> A single nucleotide variant Likely benign rs73234669 GRCh38 Chromosome X, 85273088: 85273088
3 POF1B NM_024921.3(POF1B): c.*835C> T single nucleotide variant Uncertain significance rs1057516019 GRCh37 Chromosome X, 84533592: 84533592
4 POF1B NM_024921.3(POF1B): c.*835C> T single nucleotide variant Uncertain significance rs1057516019 GRCh38 Chromosome X, 85278586: 85278586
5 POF1B NM_024921.3(POF1B): c.*44T> G single nucleotide variant Benign rs2227090 GRCh38 Chromosome X, 85279377: 85279377
6 POF1B NM_024921.3(POF1B): c.*44T> G single nucleotide variant Benign rs2227090 GRCh37 Chromosome X, 84534383: 84534383
7 POF1B NM_024921.3(POF1B): c.1644T> C (p.Thr548=) single nucleotide variant Likely benign rs147026080 GRCh38 Chromosome X, 85303411: 85303411
8 POF1B NM_024921.3(POF1B): c.1644T> C (p.Thr548=) single nucleotide variant Likely benign rs147026080 GRCh37 Chromosome X, 84558417: 84558417
9 POF1B NM_024921.3(POF1B): c.1371C> G (p.Gly457=) single nucleotide variant Likely benign rs141543848 GRCh38 Chromosome X, 85305857: 85305857
10 POF1B NM_024921.3(POF1B): c.1371C> G (p.Gly457=) single nucleotide variant Likely benign rs141543848 GRCh37 Chromosome X, 84560863: 84560863
11 POF1B; ZNF711 NM_021998.4(ZNF711): c.*632A> G single nucleotide variant Benign rs6653049 GRCh37 Chromosome X, 84527466: 84527466
12 POF1B; ZNF711 NM_021998.4(ZNF711): c.*632A> G single nucleotide variant Benign rs6653049 GRCh38 Chromosome X, 85272460: 85272460
13 POF1B; ZNF711 NM_024921.3(POF1B): c.*1173C> A single nucleotide variant Likely benign rs7062790 GRCh37 Chromosome X, 84533254: 84533254
14 POF1B; ZNF711 NM_024921.3(POF1B): c.*1173C> A single nucleotide variant Likely benign rs7062790 GRCh38 Chromosome X, 85278248: 85278248
15 POF1B NM_024921.3(POF1B): c.*635T> C single nucleotide variant Uncertain significance rs764766864 GRCh38 Chromosome X, 85278786: 85278786
16 POF1B NM_024921.3(POF1B): c.*635T> C single nucleotide variant Uncertain significance rs764766864 GRCh37 Chromosome X, 84533792: 84533792
17 POF1B NM_024921.3(POF1B): c.*584A> C single nucleotide variant Uncertain significance rs1057516020 GRCh38 Chromosome X, 85278837: 85278837
18 POF1B NM_024921.3(POF1B): c.*584A> C single nucleotide variant Uncertain significance rs1057516020 GRCh37 Chromosome X, 84533843: 84533843
19 POF1B NM_024921.3(POF1B): c.1374C> T (p.Asn458=) single nucleotide variant Likely benign rs73627353 GRCh38 Chromosome X, 85305854: 85305854
20 POF1B NM_024921.3(POF1B): c.1374C> T (p.Asn458=) single nucleotide variant Likely benign rs73627353 GRCh37 Chromosome X, 84560860: 84560860
21 POF1B NM_024921.3(POF1B): c.1300C> A (p.Gln434Lys) single nucleotide variant Likely benign rs139385491 GRCh38 Chromosome X, 85306198: 85306198
22 POF1B NM_024921.3(POF1B): c.1300C> A (p.Gln434Lys) single nucleotide variant Likely benign rs139385491 GRCh37 Chromosome X, 84561204: 84561204
23 POF1B NM_024921.3(POF1B): c.641A> G (p.Gln214Arg) single nucleotide variant Likely benign rs60768249 GRCh38 Chromosome X, 85345942: 85345942
24 POF1B NM_024921.3(POF1B): c.641A> G (p.Gln214Arg) single nucleotide variant Likely benign rs60768249 GRCh37 Chromosome X, 84600948: 84600948
25 POF1B NM_024921.3(POF1B): c.619C> T (p.Pro207Ser) single nucleotide variant Likely benign rs363766 GRCh38 Chromosome X, 85345964: 85345964
26 POF1B NM_024921.3(POF1B): c.619C> T (p.Pro207Ser) single nucleotide variant Likely benign rs363766 GRCh37 Chromosome X, 84600970: 84600970
27 POF1B NM_024921.3(POF1B): c.-61C> T single nucleotide variant Likely benign rs182593926 GRCh38 Chromosome X, 85379658: 85379658
28 POF1B NM_024921.3(POF1B): c.-61C> T single nucleotide variant Likely benign rs182593926 GRCh37 Chromosome X, 84634663: 84634663
29 POF1B; ZNF711 NM_024921.3(POF1B): c.*1808A> G single nucleotide variant Likely benign rs56307558 GRCh37 Chromosome X, 84532619: 84532619
30 POF1B; ZNF711 NM_024921.3(POF1B): c.*1808A> G single nucleotide variant Likely benign rs56307558 GRCh38 Chromosome X, 85277613: 85277613
31 POF1B NM_024921.3(POF1B): c.*1112G> A single nucleotide variant Uncertain significance rs1057516018 GRCh37 Chromosome X, 84533315: 84533315
32 POF1B NM_024921.3(POF1B): c.*1112G> A single nucleotide variant Uncertain significance rs1057516018 GRCh38 Chromosome X, 85278309: 85278309
33 POF1B NM_024921.3(POF1B): c.*1019C> A single nucleotide variant Benign rs12557804 GRCh37 Chromosome X, 84533408: 84533408
34 POF1B NM_024921.3(POF1B): c.*1019C> A single nucleotide variant Benign rs12557804 GRCh38 Chromosome X, 85278402: 85278402
35 POF1B NM_024921.3(POF1B): c.*368G> T single nucleotide variant Benign rs6617041 GRCh38 Chromosome X, 85279053: 85279053
36 POF1B NM_024921.3(POF1B): c.*368G> T single nucleotide variant Benign rs6617041 GRCh37 Chromosome X, 84534059: 84534059
37 POF1B NM_024921.3(POF1B): c.*268T> G single nucleotide variant Benign rs12007581 GRCh38 Chromosome X, 85279153: 85279153
38 POF1B NM_024921.3(POF1B): c.*268T> G single nucleotide variant Benign rs12007581 GRCh37 Chromosome X, 84534159: 84534159
39 POF1B NM_024921.3(POF1B): c.*44_*45insG insertion Likely benign rs112147894 GRCh38 Chromosome X, 85279376: 85279377
40 POF1B NM_024921.3(POF1B): c.*44_*45insG insertion Likely benign rs112147894 GRCh37 Chromosome X, 84534382: 84534383
41 POF1B NM_024921.3(POF1B): c.*42T> G single nucleotide variant Likely benign rs372539151 GRCh38 Chromosome X, 85279379: 85279379
42 POF1B NM_024921.3(POF1B): c.*42T> G single nucleotide variant Likely benign rs372539151 GRCh37 Chromosome X, 84534385: 84534385
43 POF1B NM_024921.3(POF1B): c.1572C> G (p.Leu524=) single nucleotide variant Benign rs363754 GRCh38 Chromosome X, 85303483: 85303483
44 POF1B NM_024921.3(POF1B): c.1572C> G (p.Leu524=) single nucleotide variant Benign rs363754 GRCh37 Chromosome X, 84558489: 84558489
45 POF1B NM_024921.3(POF1B): c.1045A> T (p.Met349Leu) single nucleotide variant Benign rs363774 GRCh38 Chromosome X, 85308129: 85308129
46 POF1B NM_024921.3(POF1B): c.1045A> T (p.Met349Leu) single nucleotide variant Benign rs363774 GRCh37 Chromosome X, 84563135: 84563135
47 POF1B NM_024921.3(POF1B): c.113A> C (p.Gln38Pro) single nucleotide variant Likely benign rs142588591 GRCh38 Chromosome X, 85379342: 85379342
48 POF1B NM_024921.3(POF1B): c.113A> C (p.Gln38Pro) single nucleotide variant Likely benign rs142588591 GRCh37 Chromosome X, 84634347: 84634347
49 POF1B; ZNF711 NM_021998.4(ZNF711): c.*1411G> A single nucleotide variant Likely benign rs779890560 GRCh37 Chromosome X, 84528245: 84528245
50 POF1B; ZNF711 NM_021998.4(ZNF711): c.*1411G> A single nucleotide variant Likely benign rs779890560 GRCh38 Chromosome X, 85273239: 85273239

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

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74 UMLS via Orphanet
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