Premature Ovarian Failure 8; Pof8

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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 (OMIM ).

Genes related to Premature Ovarian Failure 8; Pof8

STAG3
CASTOR3

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Premature Ovarian Failure 8; Pof8

Neoplasm
Carcinoma
Amenorrhea
Primary amenorrhea
Premature ovarian insufficiency
Ovarian neoplasm
Increased circulating gonadotropin level
Gonadoblastoma
Dysgerminoma
Choriocarcinoma

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Premature Ovarian Failure 8; Pof8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Female Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...) View the complete list with 84 more genes Panel complete gene list BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6, WDR11, CBX2, SPRY4, PROKR2, MCM8, TRIM32, IL17RD, PSMC3IP, ARX, PROK2, BBS7, TTC8, HFM1, PADI6, CHD7, CLPP, MCM9, RSPO1, LHX4, NOBOX, FEZF1, FIGLA, MAMLD1, CYP11A1, CYP17A1, CYP19A1, BBS10, BBS12, CCDC141, SOHLH1, DHH, SYCE1, DMRT1, DMRT2, NSMF, NUP107, BBS9, DUSP6, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, AIRE, FGF17, FGF8, FGFR1, FGFR2, FLRT3, AKR1C4, FSHB, FSHR, GALT, GNRH1, GNRHR, KISS1R, HESX1, HFE, HS6ST1, HSD17B3, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MKKS, NR0B1, NR3C1, NR5A1, PCSK1, ATRX, AXL, POR, PRLR, PROP1, BBS1, BBS2, BBS4, BBS5 Specificity 1 % Genes 50 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...) View the complete list with 187 more genes Panel complete gene list ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC, TAC3, TACR3, TAF4B, TBX15, HNF1B, TEX11, MED12, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX, ZP1, ARL6, FBXL4, WDR11, SLC26A8, ZEB2, CBX2, SPRY4, SETBP1, PROKR2, TOE1, TP63, PCNT, MCM8, SUN5, TRIM32, ZFPM2, UBR1, FIG4, CATSPER1, IL17RD, CDKN1C, PSMC3IP, ARX, SYCP3, HHAT, PROK2, GRIP1, BBS7, KLHL10, CFTR, FRAS1, CHD4, PLCZ1, EVC2, TTC8, HFM1, B3GLCT, PADI6, CHD7, TWIST2, CLPP, BCOR, ZMYND15, CUL7, ICK, MCM9, RSPO1, GALNTL5, LHX4, WDR60, NOBOX, FEZF1, NANOS1, FAT4, CREBBP, FIGLA, FREM2, CFAP44, MAMLD1, CYB5A, CYP11A1, CYP11B1, CYP17A1, CYP19A1, TMEM70, BBS10, SEPT12, BBS12, CFAP43, CCDC141, ESCO2, SOHLH1, CCNQ, DHCR24, DHCR7, DHH, SYCE1, SPECC1L, WDR35, EPG5, DMRT1, DMRT2, DNAH1, DYNC2H1, DNMT3B, NSMF, NUP107, SPATA16, BBS9, DUSP6, TRAIP, BNC2, EFNB1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EVC, AIRE, FGF10, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FLNA, FLRT3, AKR1C4, FSHB, FSHR, GALT, GATA4, GLI3, GNRH1, GNRHR, GPC3, KISS1R, ADGRG2, AMH, AMHR2, HBA1, HCCS, HESX1, HFE, RIPK4, HOXA13, HOXA4, HOXB6, HS6ST1, HSD17B3, HSD17B4, HSD3B2, INSL3, IRF6, ANOS1, KISS1, AR, LEP, LEPR, LHB, LHCGR, LHX3, LMNA, MAP3K1, MID1, MKKS, MKS1, NEK1, ATF3, NPAS2, NR0B1, NR3C1, NR5A1, OPHN1, PCSK1, PDE4D, PEX1, ATRX, PITX2, AXL, POR, PICK1, PRLR, PROP1, PTDSS1, PTPN11, BBS1, BBS2, BBS4, BBS5, RBBP8 Specificity 1 % Genes 50 %
Premature Ovarian Failure (POF) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BMP15, FOXL2, STAG3, MCM8, PSMC3IP, HFM1, CLPP, MCM9, NOBOX, FIGLA, CYP17A1, CYP19A1, SOHLH1, EIF2B2, EIF2B4, EIF2B5, AIRE, FSHR, GALT, LMNA , (...) View the complete list with 1 more genes Panel complete gene list BMP15, FOXL2, STAG3, MCM8, PSMC3IP, HFM1, CLPP, MCM9, NOBOX, FIGLA, CYP17A1, CYP19A1, SOHLH1, EIF2B2, EIF2B4, EIF2B5, AIRE, FSHR, GALT, LMNA, NR5A1 Specificity 5 % Genes 50 %
Premature Ovarian Failure via STAG3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). STAG3 Specificity 100 % Genes 50 %
STAG3. By Fulgent Genetics Fulgent Genetics (United States). STAG3 Specificity 100 % Genes 50 %
Phosphorus Female Infertility Panel. By Phosphorus Diagnostics LLC (United States). BMP15, FOXL2, STAG3, ZP1, CAPN10, THADA, NOBOX, CYP11A1, CYP17A1, CYP19A1, DENND1A, F2, F5, FMR1, FSHB, FSHR, GALT, GDF9, GNAS, GNRHR , (...) View the complete list with 6 more genes Panel complete gene list BMP15, FOXL2, STAG3, ZP1, CAPN10, THADA, NOBOX, CYP11A1, CYP17A1, CYP19A1, DENND1A, F2, F5, FMR1, FSHB, FSHR, GALT, GDF9, GNAS, GNRHR, KISS1R, LHCGR, SERPINC1, NR5A1, PROC, PROS1 Specificity 4 % Genes 50 %

You can get up to -2 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; MMSDHD CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 COSTELLO SYNDROME; CSTLO LEUKODYSTROPHY, HYPOMYELINATING, 10; HLD10 PAROXYSMAL EXTREME PAIN DISORDER EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT