POF8
MCID: PRM192
MIFTS: 22

Premature Ovarian Failure 8 (POF8)

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

Aliases & Classifications for Premature Ovarian Failure 8

MalaCards integrated aliases for Premature Ovarian Failure 8:

Name: Premature Ovarian Failure 8 57 72 29 6 70
Pof8 57 72
Ovarian Failure, Premature, Type 8 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one palestinian family and one lebanese family have been described (last curated march 2016)


HPO:

31
premature ovarian failure 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615723
OMIM Phenotypic Series 57 PS311360
MeSH 44 D016649
UMLS 70 C3810367

Summaries for Premature Ovarian Failure 8

OMIM® : 57 Premature ovarian failure (POF), the endpoint of primary ovarian insufficiency, affects approximately 1% of women worldwide. Patients with POF present with at least a 6-month history of amenorrhea and elevated plasma levels of follicle-stimulating hormone (more than 40 mIU per milliliter). The disorder can result from premature depletion of the follicle pool, follicular atresia, follicle growth arrest, or ovarian dysgenesis (see 233300). In approximately 10 to 15% of patients with POF, a genetic cause has been determined (summary by Caburet et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). (615723) (Updated 05-Apr-2021)

MalaCards based summary : Premature Ovarian Failure 8, is also known as pof8. An important gene associated with Premature Ovarian Failure 8 is STAG3 (Stromal Antigen 3). Related phenotypes are ovarian neoplasm and increased circulating gonadotropin level

UniProtKB/Swiss-Prot : 72 Premature ovarian failure 8: 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.

Symptoms & Phenotypes for Premature Ovarian Failure 8

Human phenotypes related to Premature Ovarian Failure 8:

31
# Description HPO Frequency HPO Source Accession
1 ovarian neoplasm 31 very rare (1%) HP:0100615
2 increased circulating gonadotropin level 31 HP:0000837
3 premature ovarian insufficiency 31 HP:0008209
4 primary amenorrhea 31 HP:0000786

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
primary amenorrhea
ovarian dysgenesis
streak ovaries on ultrasound
ovarian cancer (rare)

Endocrine Features:
elevated serum gonadotropins
low serum estradiol elevated lh
elevated fsh

Chest Breasts:
small or undeveloped breasts

Neoplasia:
possible increased risk of germ-cell tumors

Clinical features from OMIM®:

615723 (Updated 05-Apr-2021)

Drugs & Therapeutics for Premature Ovarian Failure 8

Search Clinical Trials , NIH Clinical Center for Premature Ovarian Failure 8

Genetic Tests for Premature Ovarian Failure 8

Genetic tests related to Premature Ovarian Failure 8:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 8 29 STAG3

Anatomical Context for Premature Ovarian Failure 8

Publications for Premature Ovarian Failure 8

Articles related to Premature Ovarian Failure 8:

# Title Authors PMID Year
1
STAG3 truncating variant as the cause of primary ovarian insufficiency. 57 6
26059840 2016
2
Mutant cohesin in premature ovarian failure. 6 57
24597867 2014
3
Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure. 57
22428046 2012
4
Quality-Control Mechanism for Telomerase RNA Folding in the Cell. 61
33378677 2020
5
Structure of S. pombe telomerase protein Pof8 C-terminal domain is an xRRM conserved among LARP7 proteins. 61
33131423 2020
6
LARP7-like protein Pof8 regulates telomerase assembly and poly(A)+TERRA expression in fission yeast. 61
29422503 2018
7
Pof8 is a La-related protein and a constitutive component of telomerase in fission yeast. 61
29422664 2018
8
Autoimmunity predominates in a large South African cohort with Addison's disease of mainly European descent despite long-standing disease and is associated with HLA DQB*0201. 61
20455895 2010

Variations for Premature Ovarian Failure 8

ClinVar genetic disease variations for Premature Ovarian Failure 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAG3 NM_001282716.1(STAG3):c.562del (p.Gln188fs) Deletion Pathogenic 126427 rs587777267 GRCh37: 7:99786485-99786485
GRCh38: 7:100188862-100188862
2 STAG3 NM_001282716.1(STAG3):c.1945_1946CT[3] (p.Tyr650fs) Microsatellite Pathogenic 224903 rs869320765 GRCh37: 7:99798475-99798476
GRCh38: 7:100200852-100200853
3 STAG3 NM_001282716.1(STAG3):c.1573+5G>A SNV Pathogenic 430588 rs376787666 GRCh37: 7:99796995-99796995
GRCh38: 7:100199372-100199372
4 STAG3 NM_001282717.2(STAG3):c.2221-1G>T SNV Pathogenic 1033231 GRCh37: 7:99799408-99799408
GRCh38: 7:100201785-100201785
5 STAG3 NM_001282716.1(STAG3):c.962G>A (p.Arg321His) SNV Likely pathogenic 692153 GRCh37: 7:99794799-99794799
GRCh38: 7:100197176-100197176
6 STAG3 NM_001282717.2(STAG3):c.1571del (p.Gln524fs) Deletion Likely pathogenic 869148 GRCh37: 7:99796988-99796988
GRCh38: 7:100199365-100199365
7 STAG3 NM_001282716.1(STAG3):c.2776C>T (p.Arg926Ter) SNV Likely pathogenic 374000 rs764841861 GRCh37: 7:99801719-99801719
GRCh38: 7:100204096-100204096

Expression for Premature Ovarian Failure 8

Search GEO for disease gene expression data for Premature Ovarian Failure 8.

Pathways for Premature Ovarian Failure 8

GO Terms for Premature Ovarian Failure 8

Sources for Premature Ovarian Failure 8

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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