Disease #05370 (INFF (infertility, female (INFF)))

Official abbreviation INFF
Name infertility, female (INFF)
OMIM ID -
Inheritance -
Individuals reported having this disease 93
Phenotype entries for this disease 91
Associated with 7 genes CDC20, EBAG9, NLRP5, OOEP, PANX1, TBPL2, ZFP36L2
Associated tissues -
Disease features -
Remarks -
Date created 2017-12-29 16:08:25 +01:00 (CET)
Date last edited N/A


Individuals

93 entries on 1 page. Showing entries 1 - 93.
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     
00147040 28965849-Fam1 PubMed: Chen 2017 2-generation family, 1 affected F - China - - - - - INFF - PATL2 PATL2 1 1 Johan den Dunnen
00147041 28965849-Fam2 PubMed: Chen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF - PATL2 PATL2 2 1 Johan den Dunnen
00147042 28965849-Fam3 PubMed: Chen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF - PATL2 PATL2 2 1 Johan den Dunnen
00147043 28965849-Fam4 PubMed: Chen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF - PATL2 PATL2 2 1 Johan den Dunnen
00147044 28965849-Fam5 PubMed: Chen 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF - PATL2 PATL2 2 1 Johan den Dunnen
00147045 28965844-Fam1 PubMed: Maddirevula 2017 6-generation family, 2 affected sisters, unaffected non-carrier parents/relatives F - China - - - - - INFF - PATL2 PATL2 1 2 Johan den Dunnen
00296618 Fam1PatIII5 PubMed: Feng 2016 4-generation family, 5 affected (5F) F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 5 Johan den Dunnen
00296619 Fam2PatII2 PubMed: Feng 2016 2-generation family, 2 affected (2F) F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 2 Johan den Dunnen
00296620 Fam3 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296621 Fam4 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296622 Fam5 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296623 Fam6 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296624 Fam7 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296625 Fam1 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296626 Fam2 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296627 Fam3 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296628 Fam4 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296629 Fam5 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296630 Fam6 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 2 Johan den Dunnen
00296631 Fam7 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296632 Fam8 PubMed: Feng 2016 2-generation family, 2 affected (2F) F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296633 Fam9 PubMed: Feng 2016 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296634 Fam1 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296635 Fam2 PubMed: Chen 2017 2-generation family, 2 affected (2F) F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 2 Johan den Dunnen
00296636 Fam3 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296637 Fam4 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296638 Fam5 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296639 Fam6 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 2 1 Johan den Dunnen
00296640 Fam7 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296641 Fam8 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296642 Fam9 PubMed: Chen 2017 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296643 Fam1 PubMed: Huang 2017 3-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296644 Fam2 PubMed: Huang 2017 3-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296645 Fam3 PubMed: Huang 2017 2-generation family, 1 affected female F - China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296646 Pat1 PubMed: Yuan 2018 2-generation family, 1 affected F no China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296647 Fam PubMed: Xiang 2018 2-generation family, 2 affected sisters, unaffected non-carrier mother F no China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296648 Fam PubMed: Wang 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296649 Fam1 PubMed: Lanuza-Lopez 2020 4-generation family, 3 affected sisters F - Mexico - - - - - INFF see paper; ... TUBB8 TUBB8 2 1 Johan den Dunnen
00296651 Fam2 PubMed: Lanuza-Lopez 2020 2-generation family, 1 affected F - Mexico - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00296653 Fam3 PubMed: Lanuza-Lopez 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Mexico - - - - - INFF see paper; ... TUBB8 TUBB8 1 1 Johan den Dunnen
00303240 Fam1 PubMed: Zheng 2020, Journal: Zheng 2020 2-generation family, 1 affected, unaffected carrier parents F - China - - - - - INFF see paper; ... BTG4 BTG4 1 1 Johan den Dunnen
00303241 Fam2 PubMed: Zheng 2020, Journal: Zheng 2020 2-generation family, 1 affected, unaffected carrier parents F - China - - - - - INFF see paper; ... BTG4 BTG4 1 1 Johan den Dunnen
00303242 Fam3 PubMed: Zheng 2020, Journal: Zheng 2020 2-generation family, 1 affected, unaffected carrier parents F - China - - - - - INFF see paper; ... BTG4 BTG4 1 1 Johan den Dunnen
00303243 Fam4 PubMed: Zheng 2020, Journal: Zheng 2020 2-generation family, 1 affected, unaffected carrier parents F - China - - - - - INFF see paper; ... BTG4 BTG4 1 1 Johan den Dunnen
00303258 Fam1 PubMed: Zhang 2020, Journal: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives - yes China - - - - - INFF see paper; ... TRIP13 TRIP13 1 1 Johan den Dunnen
00303259 Fam2 PubMed: Zhang 2020, Journal: Zhang 2020 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents - - China - - - - - INFF see paper; ... TRIP13 TRIP13 1 1 Johan den Dunnen
00303260 Fam3 PubMed: Zhang 2020, Journal: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives - - China - - - - - INFF see paper; ... TRIP13 TRIP13 2 1 Johan den Dunnen
00303261 Fam4 PubMed: Zhang 2020, Journal: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives - - China - - - - - INFF see paper; ... TRIP13 TRIP13 2 1 Johan den Dunnen
00315870 Fam1 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected parents F yes China - - - - - INFF see paper; ..., female infertility CDC20 CDC20 1 1 Johan den Dunnen
00315871 Fam2 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected parents F yes China - - - - - INFF see paper; ..., female infertility CDC20 CDC20 1 1 Johan den Dunnen
00315872 Fam3 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., female infertility CDC20 CDC20 2 1 Johan den Dunnen
00315873 Fam4 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., female infertility CDC20 CDC20 2 1 Johan den Dunnen
00315874 Fam5 PubMed: Zhao 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., female infertility CDC20 CDC20 2 1 Johan den Dunnen
00385990 Pat1 PubMed: Furui 1994 - F - Japan - - - - - INFF see paper; ..., infertility, immunologically anomalous LH LHB LHB 2 1 Johan den Dunnen
00385991 Pat2 PubMed: Furui 1994 - F - Japan - - - - - INFF see paper; ..., infertility, immunologically anomalous LH LHB LHB 2 1 Johan den Dunnen
00385992 Pat3 PubMed: Furui 1994 - F - Japan - - - - - INFF see paper; ..., infertility, immunologically anomalous LH LHB LHB 2 1 Johan den Dunnen
00386400 patient Journal: Liu 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., primary ovarian insufficiency, normal menstrual cycle, elevated FSH plasma levels around the postmenopausal range, normal antral follicle count, normal anti-Müllerian hormone levels; after two failed ovulation cycles, became pregnant in the third IVF cycle and delivered a healthy girl at term DNAH1 DNAH1 1 1 Johan den Dunnen
00401290 Fam1 PubMed: Sang 2019 4-generation family, 3 affected sisters, unaffected carrier father F - China - - - - - INFF see paper; ... - PANX1 1 3 Johan den Dunnen
00401291 Fam2 PubMed: Sang 2019 3-generation family, 1 affected sisters, unaffected carrier father F - China - - - - - INFF see paper; ... - PANX1 1 1 Johan den Dunnen
00401292 Fam3 PubMed: Sang 2019 5-generation family, 3 affected, unaffected carrier father F - China - - - - - INFF see paper; ..., regular menstrual cycles, normal sex hormone concentrations, IVF oocytes died - PANX1 1 3 Johan den Dunnen
00401293 Fam4 PubMed: Sang 2019 2-generation family, 1 affected F - China - - - - - INFF see paper; ... - PANX1 1 1 Johan den Dunnen
00416011 Pat1 PubMed: Zheng 2022, Journal: Zheng 2022 3 generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes China - - - - - INFF see paper; ..., recurrent preimplantation embryo developmental arrest - ZFP36L2 1 1 Johan den Dunnen
00416012 Pat2 PubMed: Zheng 2022, Journal: Zheng 2022 - F yes China - - - - - INFF see paper; ..., recurrent preimplantation embryo developmental arrest - ZFP36L2 2 1 Johan den Dunnen
00431305 patient PubMed: Chen 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China - - - - - INFF see paper; ..., primary ovarian insufficiency, resistant ovary syndrome; 15y-menarche, irregular menstrual cycles (15-180d) - FSHR 2 1 Johan den Dunnen
00431310 patient PubMed: Meduri 2003 adopted F - Germany white - - - - INFF see paper; ..., infertility, delayed puberty, primary amenorrhea FSHR FSHR 1 1 Johan den Dunnen
00431313 patient PubMed: Nakamura 2008 - F - Japan - - - - - INFF see paper; ..., primary amenorrhea, moderately developed secondary sex characteristics, normal sized ovaries, small antral follicles FSHR FSHR 3 1 Johan den Dunnen
00446588 2105 - - F yes Egypt - - - - - INFF elevated LH and FSH; severely decreased AMH; small ovaries - CCDC79 1 1 Rima Slim
00446590 - - - F yes Lebanon - - - - - INFF 4-5 years of infertility Very early miscarriage from a spontaneous pregnancy CCDC79 CCDC79 1 1 Rima Slim
00452998 patient PubMed: Yalcin 2025 - F no Egypt - - - - - INFF see paper; ..., primary infertility, 4 early miscarriages, 1 failed attempt of intracytoplasmic sperm injection NLRP2 NLRP2 3 1 Rima Slim
00454558 - - - F - Egypt - - - - - INFF - MEIOB MEIOB 1 1 Rima Slim
00457387 FamPat1 PubMed: Mu 2019 3-generation family, 1 affected, unaffected parents F yes China - - - - - INFF see paper; ... - NLRP2 1 1 Johan den Dunnen
00457388 FamPat2 PubMed: Mu 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ... - NLRP2 2 1 Johan den Dunnen
00457389 FamPat3 PubMed: Mu 2019 3-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ... - NLRP2 2 1 Johan den Dunnen
00457390 FamPat4 PubMed: Mu 2019 3-generation family, 1 affected, unaffected parents F - China - - - - - INFF see paper; ... - NLRP2 2 1 Johan den Dunnen
00457391 FamPat5 PubMed: Mu 2019 3-generation family, 1 affected, unaffected parents F - China - - - - - INFF see paper; ... - NLRP2 2 1 Johan den Dunnen
00457392 Fam6PatII1 PubMed: Mu 2019 2-generation family, 2 affected sisters, unaffected parents F - China - - - - - INFF see paper; ... - NLRP5 2 2 Johan den Dunnen
00457393 Fam6PatII2 PubMed: Mu 2019 sister F - China - - - - - INFF see paper; ... - NLRP5 2 1 Johan den Dunnen
00457394 FamPat7 PubMed: Mu 2019 3-generation family, 1 affected, unaffected parents F - China - - - - - INFF see paper; ... - NLRP5 2 1 Johan den Dunnen
00457440 Pat1 PubMed: Huang 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes China - - - - - INFF see paper; ..., oocyte maturation arrest at the germinal vesicle stage - NLRP5 1 1 Johan den Dunnen
00457441 Pat2 PubMed: Huang 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother/sister F no China - - - - - INFF see paper; ..., infertility due to oocyte maturation arrest - PATL2 2 1 Johan den Dunnen
00457443 Fam2 PubMed: Tong 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment - NLRP5 2 1 Johan den Dunnen
00457444 Fam3 PubMed: Tong 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment - NLRP5 2 1 Johan den Dunnen
00457445 Fam4Pat4 PubMed: Tong 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment - NLRP5 2 2 Johan den Dunnen
00457446 Fam4Pat5 PubMed: Tong 2022 sister F - China - - - - - INFF see paper; ..., 33y-history of spontaneous abortion; 43y-preimplantation embryonic arrest during assisted reproductive technology treatment - NLRP5 2 1 Johan den Dunnen
00457447 Fam1 PubMed: Tong 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment - OOEP 2 1 Johan den Dunnen
00457829 cases Journal: Ruotsalainen 2024 genome-wide association study 22,849 women with infertility F - - - - - - - INFF - - TBPL2 1 1 Johan den Dunnen
00457830 cases Journal: Ruotsalainen 2024 analysis 4 affected females F - Finland - - - - - INFF only 4 homozygous women had children, all received infertility treatment TBPL2 TBPL2 1 1 Johan den Dunnen
00457988 FamPatIV1/2 PubMed: Yao 2022 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F yes China - - - - - INFF see paper; ..., 14y/13y-menarche, irregular menstrual cycles, no amenorrhea; 19y/22y-abortion; atrophic ovaries, few or no follicles - SPATA22 1 4 Johan den Dunnen
00464628 2246_Case1 - 2-generation family, 2 affected sisters; sister (ID:00464630) has primary infertility and recurrent ICSI failure. F yes Egypt - - - - - INFF - TUBB8 TUBB8 1 2 Rima Slim
00464630 2250_Case1 - sister (ID:00464628) has seven years of primary infertility, normal karyotype, and recurrent failed ICSI. F yes Egypt - - - - - INFF Female infertility (HP:0008222) TUBB8 TUBB8 1 1 Rima Slim
00464631 1887_Case2 - - F ? Palestine - - - - - INFF Female infertility (HP:0008222) PATL2 PATL2 1 1 Rima Slim
00464632 2244_Case3 - - F yes Egypt - - - - - INFF - CCDC39 CCDC39 1 1 Rima Slim
00464636 2336_Case4 - - F yes Egypt - - - - - INFF Female infertility (HP:0008222) STAG3 STAG3 1 1 Rima Slim
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.