MCID: PRM192
MIFTS: 19

Premature Ovarian Failure 8

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 8

MalaCards integrated aliases for Premature Ovarian Failure 8:

Name: Premature Ovarian Failure 8 57 75 29 6 73
Pof8 57 75
Ovarian Failure, Premature, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
premature ovarian failure 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615723
MeSH 44 D016649
SNOMED-CT via HPO 69 258211005 8913004 373717006
UMLS 73 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)

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). Affiliated tissues include ovary, and related phenotypes are primary amenorrhea and increased circulating gonadotropin level

UniProtKB/Swiss-Prot : 75 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.

Related Diseases for Premature Ovarian Failure 8

Symptoms & Phenotypes for Premature Ovarian Failure 8

Symptoms via clinical synopsis from OMIM:

57
Chest Breasts:
small or undeveloped breasts

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

Genitourinary Internal Genitalia Female:
primary amenorrhea
ovarian dysgenesis
streak ovaries on ultrasound
ovarian cancer (rare)

Neoplasia:
possible increased risk of germ-cell tumors


Clinical features from OMIM:

615723

Human phenotypes related to Premature Ovarian Failure 8:

32
# Description HPO Frequency HPO Source Accession
1 primary amenorrhea 32 HP:0000786
2 increased circulating gonadotropin level 32 HP:0000837
3 premature ovarian insufficiency 32 HP:0008209

Drugs & Therapeutics for Premature Ovarian Failure 8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inovium Ovarian Rejuvenation Trials Completed NCT03178695 Phase 1

Search 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

MalaCards organs/tissues related to Premature Ovarian Failure 8:

41
Ovary

Publications for Premature Ovarian Failure 8

Variations for Premature Ovarian Failure 8

ClinVar genetic disease variations for Premature Ovarian Failure 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STAG3 NM_012447.3(STAG3): c.561delC (p.Gln188Argfs) deletion Pathogenic rs587777267 GRCh37 Chromosome 7, 99786485: 99786485
2 STAG3 NM_012447.3(STAG3): c.561delC (p.Gln188Argfs) deletion Pathogenic rs587777267 GRCh38 Chromosome 7, 100188862: 100188862
3 STAG3 NM_001282716.1(STAG3): c.1947_1948dupCT (p.Tyr650Serfs) duplication Pathogenic rs869320765 GRCh38 Chromosome 7, 100200855: 100200856
4 STAG3 NM_001282716.1(STAG3): c.1947_1948dupCT (p.Tyr650Serfs) duplication Pathogenic rs869320765 GRCh37 Chromosome 7, 99798478: 99798479
5 STAG3 NM_012447.3(STAG3): c.1573+5G> A single nucleotide variant Pathogenic rs376787666 GRCh37 Chromosome 7, 99796995: 99796995
6 STAG3 NM_012447.3(STAG3): c.1573+5G> A single nucleotide variant Pathogenic rs376787666 GRCh38 Chromosome 7, 100199372: 100199372

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 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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