POF11
MCID: PRM254
MIFTS: 23

Premature Ovarian Failure 11 (POF11)

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

Aliases & Classifications for Premature Ovarian Failure 11

MalaCards integrated aliases for Premature Ovarian Failure 11:

Name: Premature Ovarian Failure 11 57 72 29 6
Pof11 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
premature ovarian failure 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 616946
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
SNOMED-CT via HPO 68 263681008 52073004 86030004

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) (Updated 20-May-2021)

MalaCards based summary : Premature Ovarian Failure 11, also known as pof11, is related to macular degeneration, age-related, 5 and uv-sensitive syndrome 1. An important gene associated with Premature Ovarian Failure 11 is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor). Related phenotypes are secondary amenorrhea and elevated circulating follicle stimulating hormone level

UniProtKB/Swiss-Prot : 72 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

Graphical network of the top 20 diseases related to Premature Ovarian Failure 11:



Diseases related to Premature Ovarian Failure 11

Symptoms & Phenotypes for Premature Ovarian Failure 11

Human phenotypes related to Premature Ovarian Failure 11:

31
# Description HPO Frequency HPO Source Accession
1 secondary amenorrhea 31 HP:0000869
2 elevated circulating follicle stimulating hormone level 31 HP:0008232
3 oligomenorrhea 31 HP:0000876

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
secondary amenorrhea

Endocrine Features:
secondary amenorrhea
elevated serum fsh

Clinical features from OMIM®:

616946 (Updated 20-May-2021)

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

Articles related to Premature Ovarian Failure 11:

# Title Authors PMID Year
1
CSB-PGBD3 Mutations Cause Premature Ovarian Failure. 6 57
26218421 2015

Variations for Premature Ovarian Failure 11

ClinVar genetic disease variations for Premature Ovarian Failure 11:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ERCC6 , ERCC6-PGBD3 NM_000124.4(ERCC6):c.643G>T (p.Glu215Ter) SNV Pathogenic 225905 rs875989810 GRCh37: 10:50736472-50736472
GRCh38: 10:49528426-49528426
2 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1397+7751G>A SNV Pathogenic 225904 rs878854403 GRCh37: 10:50724328-50724328
GRCh38: 10:49516282-49516282
3 ERCC6 NM_000124.4(ERCC6):c.2830-2A>G SNV Pathogenic 190163 rs373227647 GRCh37: 10:50680518-50680518
GRCh38: 10:49472472-49472472
4 ERCC6 NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) SNV Pathogenic 1701 rs121917901 GRCh37: 10:50686483-50686483
GRCh38: 10:49478437-49478437
5 ERCC6 NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) SNV Pathogenic 430298 rs376526037 GRCh37: 10:50691550-50691550
GRCh38: 10:49483504-49483504
6 ERCC6 , ERCC6-PGBD3 , PGBD3 NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) SNV Pathogenic 1703 rs121917902 GRCh37: 10:50732119-50732119
GRCh38: 10:49524073-49524073
7 ERCC6 NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) SNV Uncertain significance 190173 rs745352643 GRCh37: 10:50667157-50667157
GRCh38: 10:49459111-49459111
8 ERCC6 NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) SNV Uncertain significance 195555 rs574272317 GRCh37: 10:50667277-50667277
GRCh38: 10:49459231-49459231
9 ERCC6 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) SNV Uncertain significance 190151 rs116373975 GRCh37: 10:50708610-50708610
GRCh38: 10:49500564-49500564
10 ERCC6 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) SNV Uncertain significance 190156 rs61760163 GRCh37: 10:50690906-50690906
GRCh38: 10:49482860-49482860
11 ERCC6 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) SNV Uncertain significance 190164 rs139007661 GRCh37: 10:50678884-50678884
GRCh38: 10:49470838-49470838

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

72
# Symbol AA change Variation ID SNP ID
1 ERCC6 p.Gly746Asp VAR_079009
2 ERCC6 p.Val1056Ile VAR_079011

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 8.62 PGBD3 ERCC6

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.62 PGBD3 ERCC6

Sources for Premature Ovarian Failure 11

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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