POF11
MCID: PRM254
MIFTS: 22

Premature Ovarian Failure 11 (POF11)

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

Aliases & Classifications for Premature Ovarian Failure 11

MalaCards integrated aliases for Premature Ovarian Failure 11:

Name: Premature Ovarian Failure 11 58 76 6
Pof11 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
premature ovarian failure 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616946
MeSH 45 D016649
SNOMED-CT via HPO 70 263681008 52073004 86030004

Summaries for Premature Ovarian Failure 11

OMIM : 58 Premature ovarian failure-11 (POF11) is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone (FSH; see 136530) levels before age 40 years (Qin et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). (616946)

MalaCards based summary : Premature Ovarian Failure 11, also known as pof11, is related to uv-sensitive syndrome and cockayne syndrome. An important gene associated with Premature Ovarian Failure 11 is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor). Affiliated tissues include bone, and related phenotypes are secondary amenorrhea and elevated circulating follicle stimulating hormone level

UniProtKB/Swiss-Prot : 76 Premature ovarian failure 11: 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.

Related Diseases for Premature Ovarian Failure 11

Symptoms & Phenotypes for Premature Ovarian Failure 11

Human phenotypes related to Premature Ovarian Failure 11:

33
# Description HPO Frequency HPO Source Accession
1 secondary amenorrhea 33 HP:0000869
2 elevated circulating follicle stimulating hormone level 33 HP:0008232
3 oligomenorrhea 33 HP:0000876

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
secondary amenorrhea

Endocrine Features:
secondary amenorrhea
elevated serum fsh

Clinical features from OMIM:

616946

Drugs & Therapeutics for Premature Ovarian Failure 11

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 11

Genetic Tests for Premature Ovarian Failure 11

Anatomical Context for Premature Ovarian Failure 11

MalaCards organs/tissues related to Premature Ovarian Failure 11:

42
Bone

Publications for Premature Ovarian Failure 11

Articles related to Premature Ovarian Failure 11:

# Title Authors Year
1
CSB-PGBD3 Mutations Cause Premature Ovarian Failure. ( 26218421 )
2015

Variations for Premature Ovarian Failure 11

UniProtKB/Swiss-Prot genetic disease variations for Premature Ovarian Failure 11:

76
# Symbol AA change Variation ID SNP ID
1 ERCC6 p.Gly746Asp VAR_079009
2 ERCC6 p.Val1056Ile VAR_079011

ClinVar genetic disease variations for Premature Ovarian Failure 11:

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh37 Chromosome 10, 50686483: 50686483
2 ERCC6 NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter) single nucleotide variant Pathogenic rs121917901 GRCh38 Chromosome 10, 49478437: 49478437
3 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh37 Chromosome 10, 50732119: 50732119
4 ERCC6 NM_000124.3(ERCC6): c.1357C> T (p.Arg453Ter) single nucleotide variant Pathogenic rs121917902 GRCh38 Chromosome 10, 49524073: 49524073
5 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh38 Chromosome 10, 49459111: 49459111
6 ERCC6 NM_000124.3(ERCC6): c.4186A> G (p.Arg1396Gly) single nucleotide variant Uncertain significance rs745352643 GRCh37 Chromosome 10, 50667157: 50667157
7 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
8 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
9 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh37 Chromosome 10, 50680518: 50680518
10 ERCC6 NM_000124.3(ERCC6): c.2830-2A> G single nucleotide variant Pathogenic rs373227647 GRCh38 Chromosome 10, 49472472: 49472472
11 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
12 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
13 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
14 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
15 ERCC6 NM_000124.3(ERCC6): c.4066G> A (p.Gly1356Ser) single nucleotide variant Uncertain significance rs574272317 GRCh37 Chromosome 10, 50667277: 50667277
16 ERCC6 NM_000124.3(ERCC6): c.4066G> A (p.Gly1356Ser) single nucleotide variant Uncertain significance rs574272317 GRCh38 Chromosome 10, 49459231: 49459231
17 ERCC6 NM_001277059.1(ERCC6): c.2237G> A (p.Gly746Asp) single nucleotide variant Pathogenic rs878854403 GRCh37 Chromosome 10, 50724328: 50724328
18 ERCC6 NM_001277059.1(ERCC6): c.2237G> A (p.Gly746Asp) single nucleotide variant Pathogenic rs878854403 GRCh38 Chromosome 10, 49516282: 49516282
19 ERCC6 NM_000124.3(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Likely pathogenic rs875989810 GRCh37 Chromosome 10, 50736472: 50736472
20 ERCC6 NM_000124.3(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Likely pathogenic rs875989810 GRCh38 Chromosome 10, 49528426: 49528426
21 ERCC6 NM_000124.2(ERCC6): c.1834C> T (p.Arg612Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376526037 GRCh37 Chromosome 10, 50691550: 50691550
22 ERCC6 NM_000124.2(ERCC6): c.1834C> T (p.Arg612Ter) single nucleotide variant Pathogenic/Likely pathogenic rs376526037 GRCh38 Chromosome 10, 49483504: 49483504

Expression for Premature Ovarian Failure 11

Search GEO for disease gene expression data for Premature Ovarian Failure 11.

Pathways for Premature Ovarian Failure 11

GO Terms for Premature Ovarian Failure 11

Cellular components related to Premature Ovarian Failure 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.96 ERCC6 PGBD3
2 transcription elongation factor complex GO:0008023 8.62 ERCC6 PGBD3

Biological processes related to Premature Ovarian Failure 11 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.62 ERCC6 PGBD3
2 cellular response to DNA damage stimulus GO:0006974 9.61 ERCC6 PGBD3
3 DNA repair GO:0006281 9.61 ERCC6 PGBD3
4 response to oxidative stress GO:0006979 9.6 ERCC6 PGBD3
5 response to toxic substance GO:0009636 9.59 ERCC6 PGBD3
6 multicellular organism growth GO:0035264 9.58 ERCC6 PGBD3
7 transcription-coupled nucleotide-excision repair GO:0006283 9.58 ERCC6 PGBD3
8 DNA duplex unwinding GO:0032508 9.57 ERCC6 PGBD3
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.56 ERCC6 PGBD3
10 response to UV GO:0009411 9.55 ERCC6 PGBD3
11 activation of JUN kinase activity GO:0007257 9.54 ERCC6 PGBD3
12 base-excision repair GO:0006284 9.52 ERCC6 PGBD3
13 positive regulation of protein tyrosine kinase activity GO:0061098 9.51 ERCC6 PGBD3
14 photoreceptor cell maintenance GO:0045494 9.49 ERCC6 PGBD3
15 positive regulation of gene expression, epigenetic GO:0045815 9.48 ERCC6 PGBD3
16 response to gamma radiation GO:0010332 9.46 ERCC6 PGBD3
17 response to X-ray GO:0010165 9.43 ERCC6 PGBD3
18 positive regulation of DNA-templated transcription, elongation GO:0032786 9.4 ERCC6 PGBD3
19 activation of JNKK activity GO:0007256 9.37 ERCC6 PGBD3
20 regulation of DNA-templated transcription, elongation GO:0032784 9.32 ERCC6 PGBD3
21 response to UV-B GO:0010224 9.26 ERCC6 PGBD3
22 pyrimidine dimer repair GO:0006290 9.16 ERCC6 PGBD3
23 response to superoxide GO:0000303 8.96 ERCC6 PGBD3
24 transcription elongation from RNA polymerase I promoter GO:0006362 8.62 ERCC6 PGBD3

Molecular functions related to Premature Ovarian Failure 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.4 ERCC6 PGBD3
2 protein-containing complex binding GO:0044877 9.37 ERCC6 PGBD3
3 protein C-terminus binding GO:0008022 9.32 ERCC6 PGBD3
4 helicase activity GO:0004386 9.26 ERCC6 PGBD3
5 protein N-terminus binding GO:0047485 9.16 ERCC6 PGBD3
6 DNA-dependent ATPase activity GO:0008094 8.96 ERCC6 PGBD3
7 protein tyrosine kinase activator activity GO:0030296 8.62 ERCC6 PGBD3

Sources for Premature Ovarian Failure 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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