Disease #04187 (POF (ovarian failure, premature (POF)))

Official abbreviation POF
Name ovarian failure, premature (POF)
OMIM ID -
Inheritance -
Individuals reported having this disease 34
Phenotype entries for this disease 19
Associated with 7 genes C14orf39, FOXL2, HFM1, MCM8, NOBOX, STAG3, SYCP2L
Associated tissues -
Disease features -
Remarks -


Individuals

34 entries on 1 page. Showing entries 1 - 34.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00073649 - PubMed: Li 2016 - F no China Chinese - 0 - - POF secondary amenorrhea (HP:0000869), FSH=124 IU/L AMHR2 AMHR2 1 1 Lin Li
00073650 - PubMed: Qin 2014, PubMed: Li 2016 - F - China Chinese - 0 - - POF - AMHR2 AMHR2 1 1 Lin Li
00073651 - PubMed: Qin 2014, PubMed: Li 2016 - F - China Chinese - 0 - - POF - AMHR2 AMHR2 1 1 Lin Li
00081851 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081852 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081853 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081854 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081855 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081859 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081862 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081868 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081876 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081877 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081878 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081880 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081882 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081883 - PubMed: Ardui 2016 - F ? (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00081885 - PubMed: Ardui 2016 - F - (Belgium) - - 0 yes - POF - FMR1 FMR1 2 1 Simon Ardui
00101241 - PubMed: Li 2017 - F ? China Han Chinese - 0 - - POF . The serum FSH level of the patient who carried DelG mutation was 51.07 IU/l; LH = 27.69 IU/l; E2 (estradiol) = 82.64 pmol/l; testosterone (T) = 1.94 nmol/l; prolactin = 15.85 ng/ml. NOBOX NOBOX 1 1 Lin Li
00260885 - PubMed: Fouquet 2017 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Finland - - 0 - - POF see paper; ... FANCM FANCM 1 2 Johan den Dunnen
00265841 - - - F yes Lebanon - - 0 - - POF Premature ovarian failure NBN NBN 1 1 Alice Fiévet
00269783 - - - F no China Asian - 0 - - POF 13y-menarche, since then suffered from oligomenorrhea; 16y-amenorrhea FANCL FANCL 1 1 Yajuan Yang
00269785 - - - F no China Asian - 0 - - POF primary amenorrhea, premature ovarian failure FANCL FANCL 1 1 Yajuan Yang
00324127 - - - F no Belgium white - - - - POF primary amenorrhea and delayed puberty NOBOX NOBOX 1 4 Asma Sassi
00324129 - - - F no Belgium white - - - - POF primary amenorrhea and delayed puberty NOBOX NOBOX 1 4 Asma Sassi
00332516 FamP0001 PubMed: He 2021 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes China - - 0 - - POF see paper; ... - SYCP2L 1 1 Johan den Dunnen
00332517 FamP0005 PubMed: He 2021 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes China - - 0 - - POF see paper; ... - SYCP2L 1 1 Johan den Dunnen
00403108 family PubMed: Wang 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - 0 - - POF see paper; ... - CDKN2AIP, HFM1, LILRB3, RAI1, TTN 8 2 Johan den Dunnen
00403109 PatF32 PubMed: Wang 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - 0 - - POF see paper; ... HFM1 HFM1 2 1 Johan den Dunnen
00403114 family PubMed: AlAsiri 2015 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - 0 - - POF see paper; ..., primary amenorrhea, hypothyroidism, hypergonadotropic hypogonadism - FERMT1, MCM8 2 3 Johan den Dunnen
00403116 FamB PubMed: Tenenbaum-Rakover 2015 4-generation family, 5 affected (5F), unaffected heterozygous carrier parents/relatives F yes Israel Arab - 0 - - POF see paper; ..., delayed puberty, primary amenorrhoea, hypergonadotrophic hypogonadism, absence of ovaries, small uterus - MCM8 1 5 Johan den Dunnen
00408189 FamPatII1/2 PubMed: Chu 2021 3 generation family, 2 affected sisters (2F), 1 affected, unaffected heterozygous carrier parents F ? China - >31y 0 - - POF - - LAT 2 2 Maeve Soen
00409231 FamPatIII2 PubMed: Li 2022 3-generation family, 3 affected (3F, mother, daughter, granddaughter) F no China - >35y 0 - - POF see paper; ..., y-amenorrhea (HP:0000141), no pregnancies - FMN2 1 3 Maeve Soen
00411071 patient PubMed: Li 2022 sporadic case F - China - - 0 - - POF see paper; ..., 23y-amenorrhea, no pregnancies - FMN2 1 1 Johan den Dunnen
Legend   How to query