MCID: PRM254
MIFTS: 22

Premature Ovarian Failure 11

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 11

MalaCards integrated aliases for Premature Ovarian Failure 11:

Name: Premature Ovarian Failure 11 57 75 29 6
Pof11 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
premature ovarian failure 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616946
MeSH 44 D016649
SNOMED-CT via HPO 69 263681008 86030004 52073004

Summaries for Premature Ovarian Failure 11

OMIM : 57 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). Related phenotypes are secondary amenorrhea and oligomenorrhea

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
secondary amenorrhea

Endocrine Features:
secondary amenorrhea
elevated serum fsh


Clinical features from OMIM:

616946

Human phenotypes related to Premature Ovarian Failure 11:

32
# Description HPO Frequency HPO Source Accession
1 secondary amenorrhea 32 HP:0000869
2 oligomenorrhea 32 HP:0000876
3 elevated circulating follicle stimulating hormone level 32 HP:0008232

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

Genetic tests related to Premature Ovarian Failure 11:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 11 29 ERCC6

Anatomical Context for Premature Ovarian Failure 11

Publications for Premature Ovarian Failure 11

Variations for Premature Ovarian Failure 11

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh38 Chromosome 10, 49470838: 49470838
2 ERCC6 NM_000124.3(ERCC6): c.3122A> C (p.Gln1041Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139007661 GRCh37 Chromosome 10, 50678884: 50678884
3 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh38 Chromosome 10, 49482860: 49482860
4 ERCC6 NM_000124.3(ERCC6): c.1996C> T (p.Arg666Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61760163 GRCh37 Chromosome 10, 50690906: 50690906
5 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh37 Chromosome 10, 50708610: 50708610
6 ERCC6 NM_000124.3(ERCC6): c.1659G> T (p.Lys553Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116373975 GRCh38 Chromosome 10, 49500564: 49500564
7 ERCC6 NM_001277059.1(ERCC6): c.2237G> A (p.Gly746Asp) single nucleotide variant Pathogenic rs878854403 GRCh37 Chromosome 10, 50724328: 50724328
8 ERCC6 NM_001277059.1(ERCC6): c.2237G> A (p.Gly746Asp) single nucleotide variant Pathogenic rs878854403 GRCh38 Chromosome 10, 49516282: 49516282
9 ERCC6 NM_000124.3(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Pathogenic rs875989810 GRCh37 Chromosome 10, 50736472: 50736472
10 ERCC6 NM_000124.3(ERCC6): c.643G> T (p.Glu215Ter) single nucleotide variant Pathogenic rs875989810 GRCh38 Chromosome 10, 49528426: 49528426

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 23)
# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.61 ERCC6 PGBD3
2 cellular response to DNA damage stimulus GO:0006974 9.61 ERCC6 PGBD3
3 DNA repair GO:0006281 9.6 ERCC6 PGBD3
4 response to oxidative stress GO:0006979 9.59 ERCC6 PGBD3
5 response to toxic substance GO:0009636 9.58 ERCC6 PGBD3
6 multicellular organism growth GO:0035264 9.58 ERCC6 PGBD3
7 transcription-coupled nucleotide-excision repair GO:0006283 9.57 ERCC6 PGBD3
8 positive regulation of gene expression, epigenetic GO:0045815 9.56 ERCC6 PGBD3
9 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.55 ERCC6 PGBD3
10 response to UV GO:0009411 9.54 ERCC6 PGBD3
11 base-excision repair GO:0006284 9.52 ERCC6 PGBD3
12 activation of JUN kinase activity GO:0007257 9.51 ERCC6 PGBD3
13 photoreceptor cell maintenance GO:0045494 9.49 ERCC6 PGBD3
14 positive regulation of protein tyrosine kinase activity GO:0061098 9.48 ERCC6 PGBD3
15 response to gamma radiation GO:0010332 9.46 ERCC6 PGBD3
16 transcription elongation from RNA polymerase I promoter GO:0006362 9.43 ERCC6 PGBD3
17 response to X-ray GO:0010165 9.4 ERCC6 PGBD3
18 regulation of DNA-templated transcription, elongation GO:0032784 9.37 ERCC6 PGBD3
19 positive regulation of DNA-templated transcription, elongation GO:0032786 9.32 ERCC6 PGBD3
20 response to UV-B GO:0010224 9.26 ERCC6 PGBD3
21 activation of JNKK activity GO:0007256 9.16 ERCC6 PGBD3
22 response to superoxide GO:0000303 8.96 ERCC6 PGBD3
23 pyrimidine dimer repair GO:0006290 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 C-terminus binding GO:0008022 9.37 ERCC6 PGBD3
3 protein-containing complex binding GO:0044877 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 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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