Oocyte Maturation Defect 1 (OOMD1)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 1

MalaCards integrated aliases for Oocyte Maturation Defect 1:

Name: Oocyte Maturation Defect 1 57 72 29 6
Infertility, Female 44 39
Female Infertility 17 32
Oomd1 57 72
Oomd 57 72
Oocyte Maturation Defect, Type 1 39
Oocyte Maturation Defect 70



57 (Updated 05-Apr-2021)
autosomal recessive


oocyte maturation defect 1:
Inheritance autosomal recessive inheritance


External Ids:

OMIM® 57 615774
OMIM Phenotypic Series 57 PS615774
MeSH 44 D007247
ICD10 32 N97 N97.9
SNOMED-CT via HPO 68 15296000 258211005 8619003
UMLS 70 C4014291

Summaries for Oocyte Maturation Defect 1

OMIM® : 57 The zona pellucida (ZP) is a glycoprotein matrix that surrounds oocytes and has an average thickness of 17 micrometers. It is vital for the production of oocytes in early development, for fertilization, and for protection of early embryos before implantation. Absence of the zona pellucida in OOMD1 results in sterility (summary by Huang et al., 2014). (615774) (Updated 05-Apr-2021)

MalaCards based summary : Oocyte Maturation Defect 1, also known as infertility, female, is related to oocyte maturation defect 5 and anovulation. An important gene associated with Oocyte Maturation Defect 1 is ZP1 (Zona Pellucida Glycoprotein 1), and among its related pathways/superpathways are Metabolism of steroid hormones and Transcription_Role of VDR in regulation of genes involved in osteoporosis. The drugs Enoxaparin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include uterus, ovary and pituitary, and related phenotypes are infertility and endocrine/exocrine gland

UniProtKB/Swiss-Prot : 72 Oocyte maturation defect 1: An infertility disorder caused by defective oocyte maturation that results in abnormal eggs lacking a zona pellucida. Affected females have normal menstrual cycles and sex hormone levels, no obstruction in the fallopian tubes or abnormalities of the uterus or adnexa.

Related Diseases for Oocyte Maturation Defect 1

Diseases in the Oocyte Maturation Defect 1 family:

Oocyte Maturation Defect 2 Oocyte Maturation Defect 3
Oocyte Maturation Defect 4 Oocyte Maturation Defect 5
Oocyte Maturation Defect 6 Oocyte Maturation Defect 7
Oocyte Maturation Defect 8 Oocyte Maturation Defect 9
Oocyte Maturation Defect 10

Diseases related to Oocyte Maturation Defect 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 oocyte maturation defect 5 31.4 TUBB8 PABPC1L
2 anovulation 30.0 CYP19A1 CGA BMP15
3 polycystic ovary syndrome 30.0 FST CYP19A1 CGA
4 amenorrhea 30.0 CYP19A1 BMP15
5 ectopic pregnancy 29.9 FST CGA
6 46 xx gonadal dysgenesis 29.9 STAG3 BMP15
7 premature menopause 29.3 STAG3 FST CYP19A1 BMP15
8 ovarian hyperstimulation syndrome 29.1 CYP19A1 CGA BMP15
9 ovarian disease 29.0 STAG3 CYP19A1 CGA BMP15
10 infertility 28.5 ZP1 TUBB8 STAG3 CYP19A1 CGA BMP15
11 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 11.4
12 rare female infertility due to hypothalamic-pituitary-gonadal axis disorder 11.4
13 rare female infertility due to gonadal dysgenesis 11.3
14 rare female infertility due to a congenital hypogonadotropic hypogonadism 11.3
15 female infertility due to zona pellucida defect 11.2
16 rare female infertility due to an implantation defect 11.2
17 female infertility due to an implantation defect of genetic origin 11.2
18 rare female infertility due to an anomaly of ovarian function of genetic origin 11.2
19 rare female infertility due to oocyte maturation defect 11.2
20 rare female infertility due to an anomaly of ovarian function 11.2
21 female infertility of uterine origin 11.1
22 rare genetic female infertility 11.1
23 rare female infertility due to adrenal disorder of genetic origin 11.1
24 rare female infertility due to an adrenal disorder 11.1
25 female infertility due to oocyte meiotic arrest 11.1
26 rare female infertility 11.1
27 blepharophimosis, ptosis, and epicanthus inversus 11.0
28 frasier syndrome 11.0
29 preimplantation embryonic lethality 1 11.0
30 oocyte maturation defect 3 10.9
31 oocyte maturation defect 6 10.9
32 oocyte maturation defect 7 10.9
33 oocyte maturation defect 8 10.9
34 oocyte maturation defect 9 10.9
35 oocyte maturation defect 10 10.9
36 endometriosis 10.7
37 pelvic inflammatory disease 10.4
38 chlamydia 10.3
39 hyperprolactinemia 10.3
40 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
41 adenomyosis 10.2
42 hyperandrogenism 10.2
43 leiomyoma 10.2
44 salpingitis 10.2
45 uterine anomalies 10.1
46 cervicitis 10.1
47 myofibroma 10.1
48 body mass index quantitative trait locus 11 10.0
49 body mass index quantitative trait locus 9 10.0
50 body mass index quantitative trait locus 8 10.0

Graphical network of the top 20 diseases related to Oocyte Maturation Defect 1:

Diseases related to Oocyte Maturation Defect 1

Symptoms & Phenotypes for Oocyte Maturation Defect 1

Human phenotypes related to Oocyte Maturation Defect 1:

# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
absence of oocyte zona pellucida

Clinical features from OMIM®:

615774 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Oocyte Maturation Defect 1:

# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.5 BMP15 CGA CYP19A1 FST PABPC1L STAG3
2 reproductive system MP:0005389 9.17 BMP15 CGA CYP19A1 FST PABPC1L STAG3

Drugs & Therapeutics for Oocyte Maturation Defect 1

Drugs for Oocyte Maturation Defect 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 226)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Enoxaparin Approved Phase 4 9005-49-6 772
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
Metformin Approved Phase 4 657-24-9 4091 14219
Liraglutide Approved Phase 4 204656-20-2 44147092
Acetaminophen Approved Phase 4 103-90-2 1983
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
Cabergoline Approved Phase 4 81409-90-7 54746
Dydrogesterone Approved, Investigational, Withdrawn Phase 4 152-62-5 9051
Ethiodized oil Approved, Investigational Phase 4 8008-53-5
Isoniazid Approved, Investigational Phase 4 54-85-3 3767
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
14 Anticoagulants Phase 4
15 Fibrinolytic Agents Phase 4
16 Platelet Aggregation Inhibitors Phase 4
17 Purinergic P2Y Receptor Antagonists Phase 4
18 Antioxidants Phase 4
19 Protective Agents Phase 4
20 Estrogen Receptor Modulators Phase 4
21 Calciferol Phase 4
22 Pharmaceutical Solutions Phase 4
23 Hypoglycemic Agents Phase 4
24 Androgens Phase 4
25 Antipyretics Phase 4
26 Neurotransmitter Agents Phase 4
27 Dopamine Agents Phase 4
28 Dopamine agonists Phase 4
29 Antiparkinson Agents Phase 4
30 Anti-Infective Agents Phase 4
31 Anti-Bacterial Agents Phase 4
32 Antimetabolites Phase 4
33 Lipid Regulating Agents Phase 4
34 Antitubercular Agents Phase 4
35 Hypolipidemic Agents Phase 4
Inositol Approved, Investigational, Withdrawn Phase 3 87-89-8
Norgestrel Approved Phase 2, Phase 3 6533-00-2 13109
Acetylcysteine Approved, Investigational Phase 3 616-91-1 12035
Saw palmetto Approved, Experimental, Investigational Phase 3
Orlistat Approved, Investigational Phase 3 96829-58-2 3034010
Simethicone Approved Phase 3 8050-81-5
Tacrolimus Approved, Investigational Phase 3 104987-11-3 6473866 445643 439492
Desogestrel Approved Phase 3 54024-22-5 40973
Cetrorelix Approved, Investigational Phase 3 120287-85-6 25074887 16129715
Rifapentine Approved, Investigational Phase 3 61379-65-5 6323497
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 5881
48 Antidotes Phase 3
49 Expectorants Phase 3
50 N-monoacetylcystine Phase 3

Interventional clinical trials:

(show top 50) (show all 323)
# Name Status NCT ID Phase Drugs
1 An Interventional Study to Assess the Efficacy and Safety of Gonapure® in Multifollicular Stimulation in Egyptian Women Undergoing IVF/ICSI Unknown status NCT03057574 Phase 4 Follitropin Alfa
2 The Effect of Intracervical Lidocaine Versus Intramuscular Diclofenac for Pain Relief During Hysterosalpingography Among Infertile Women In A Tertiary Hospital In Kano: A Randomized Controlled Trial Unknown status NCT02918812 Phase 4 Intracervical lidocaine;Intramuscular Diclofenac
3 Long Acting FSH Plus GnRH Antagonist Versus Daily FSH Plus GnRH Antagonist Versus Short Agonist Regimens in Poor Responder Patients Undergoing IVF: a Randomized Study. Unknown status NCT02070198 Phase 4 Long acting FSH and GnRH antagonist;Daily FSH and GnRH antagonist;Triptorelin and recombinant FSH
4 Transdermal Testosterone for Poor Responders Undergoing IVF Unknown status NCT03078569 Phase 4 Testosterone gel
5 Follicular Fluid, Serum Endocrine Profile Following Stimulation With Recombinant Gonadotropins or Highly Purified Human Menopausal Gonadotropin During GnRH-antagonist Protocol Unknown status NCT02992808 Phase 4 recombinant gonadotropins;HP-HMG
6 The Effectiveness and Safety of the Early Follicular Phase Prolonged Down-regulation Protocol for Controlled Ovarian Hyperstimulation: a Randomized, Paralleled, Controlled, Multicenter Trial Unknown status NCT03809221 Phase 4 Triptorelin acetate
7 Effects of Clomiphene Citrate Ovulation Induction on Frozen Embryo Transfer Unknown status NCT03309436 Phase 4 Clomiphene Citrate protocol
8 Comparison Between Effect of Enoxaparin and Clopidogrel on Improving Pregnancy Rate in ICSI Unknown status NCT02696330 Phase 4 clopidogrel;enoxaparin;placebo
9 Double Ovarian Stimulation as Accumulation Strategy for Older Infertile Patients With Suboptimal Ovarian Response in Assisted Reproductive Treatment Unknown status NCT03400722 Phase 4 Pergoveris;Clomiphene
10 A Randomized, the Second-generation Non-ionic Monomer Contrast Parallel Control, Multicenter Clinical Study to Evaluate the Imaging Diagnostic Quality and Fertility Promoting Effect of Ethiodized Poppyseed Oil in Hysterosalpingography of Infertile Patients. Unknown status NCT03370575 Phase 4 ethiodized poppyseed oil;the second-generation non-ionic monomer contrast
11 Prospective Randomized Phase IV Study Comparing the Effect of Adding Clomiphencitrate Versus Placebo to a High Dose Versus a Minimal Dose GnRH Antagonist Protocol on the Number of Oocytes Collected From Women That Are Poor Responders Completed NCT01577472 Phase 4 High Dose Clomiphencitrat;Low Dose Clomiphencitrat;High Dose Placebo;Low dose Placebo
12 To Define the Individual Need of Exogenous LH During Ovarian Stimulation for Severe LH Suppressed Patients After Administration of a GnRH Antagonist Completed NCT01936077 Phase 4 Recombinant LH (Luveris)
13 There is a Cut Off Value of Luteinizing Hormone Predictive of in Vitro Fertilization Treatment Outcome? A Randomized Controlled Trial in Fixed Versus Flexible Gonadotropin-releasing Hormone Antagonist Protocols. Completed NCT02328924 Phase 4
14 Which is the Best IVF/ICSI Protocol to be Used in Poor Responders Receiving Growth Hormone as an Adjuvant Treatment ? A Prospective Randomized Study Completed NCT01897324 Phase 4 Growth hormone (Norditropin, Novo nordisk)
15 Impact of Clomiphene Citrate Administration During the Early Luteal Phase on Endocrine Profile in Agonist Triggered GnRH Antagonist in Vitro Fertilization Cycles. Phase IV, Single-centre, Open-label, Controlled Clinical Trial. Completed NCT01791751 Phase 4 Clomifene Citrate
16 Does the Addition of Growth Hormone to the Invitro Fertilization/ Intracytoplasmic Sperm Injection Antagonist Protocol Improve Outcome in Poor Responders? A Randomized Controlled Trial Completed NCT02195947 Phase 4 Growth Hormone
17 Growth Hormone Co-treatment With the Microflare Stimulation Protocol in IVF/ICSI, Can it be a New Hope for Poor Responders? Completed NCT02185326 Phase 4 Growth hormone (Norditropin, Novo nordisk)
18 Comparative Randomized, Single Dose, Parallel, Triple-blinded Study in Infertile Females to Evaluate Biosimilarity of IM Injection of Human Chorionic Gonadotrophin After Parenteral Administration of Treatment A TEST Product Epifasi 5000 I.U. Ampoules (EIPICO PHARMA, EGYPT) and Treatment B REFERENCE Product Pregnyl 5000 I.U. Ampoules (Baxter Pharmaceutical Solutions for Organon, USA) Completed NCT04605107 Phase 4 Epifasi: Human chorionic gonadotrophin;Pregnyl: Human chorionic gonadotrophin
19 A Protocol for a Randomized, Controlled Study to Compare the Use of Gonodotropin-releasing Hormone Agonist Triptoreline (Gonapeptyl®) for Luteal Phase Support Versus Natural Luteal Phase in the Insemination Cycles Completed NCT03115307 Phase 4 Triptorelin
20 Efficacy of Growth Hormone Supplementation With Gonadotrophins in IVF/ICSI for Poor Responders; a Randomized Controlled Trial Completed NCT03759301 Phase 4 Growth Hormones Somatropin Recombinant;Placebo saline solution
21 Open Randomized Study Comparing Clinical Efficacy of Corifollitropin Alfa (Elonva) in Combination With Menotropin (Merional) With Follitropin and Lutropin Alfa (Pergoveris) for Ovarian Stimulation in Expected Suboptimal Responders Completed NCT03177538 Phase 4 Corifollitropin alfa and menotropin;Follitropin alfa and lutropin alfa
22 Effect of Some Antioxidants on the Conception Rate in Poor Responders in IVF Cycles (a Randomized Controlled Trial) Completed NCT03085030 Phase 4 Antioxidant Formula;Placebo
23 Oral Dydrogesterone Versus Micronized Vaginal Progesterone for Luteal Phase Support in In Vitro Fertilisation (IVF)/ IntraCytoplasmic Sperm Injection (ICSI): Pharmacokinetics and the Impact on the Endometrium, the Microbiota of the Genital Tract and the Peripheral Immunology. Double Blind Crossover Study. Completed NCT03677336 Phase 4 Dydrogesterone Oral Tablet;Micronized progesterone;Placebo Dydrogesterone oral tablet;Placebo Micronized progesterone
24 A Multicenter, Randomized, Open Label, Parallel Study to Evaluate the Efficacy & Safety of s.c. Administration of IVF-M HP Inj. Versus Menopur® Inj. in Infertility Women Undergoing Controlled Ovarian Hyperstimulation for Assisted Reproductive Technologies (ART) Such as in Vitro Fertilization-embryo Transfer (IVF-ET) Completed NCT02458768 Phase 4 IVF-M HP Inj.;Menopur® Inj.
25 Effects of Vitamin D Supplements on Pregnancy Outcomes in Embriyo Transfer Cycles Completed NCT03890458 Phase 4 DEVIT-3
26 Modulating the Vaginal Microbiome After Implantation Failure A Randomized Placebo Controlled Study of Vaginal Lactobacilli Supplements Completed NCT03843112 Phase 4 Vivag Plus;Placebo - Cap
27 The Effect of Liraglutide on Pregnancy Rates in Obese Women With PCOS Undergoing in Vitro Fertilization: a Pilot Randomized Study Completed NCT03353948 Phase 4 MET;COMBI
28 A Randomized Controlled Study to Compare the Outcome of Two Protocols Used to Prepare the Endometrium for Frozen Embryo Transfer Completed NCT04507022 Phase 4 Estradiol Valerate;Progesterone;Aromatase inhibitor
29 Prospective Randomised Clinical Study on Pharmacogenetics of Gonadotropin Receptors in Relation to Pregnancy and Life Birth Rate as Well as Unwanted Side Effects Such as Ovarian Hyper Stimulation Syndrome During Assisted Reproduction. Recruiting NCT03737253 Phase 4 Follitropin alpha;Menotropin
30 Eight Weeks of Androgen Priming by hCG Before IVF/ICSI in Women With Low Ovarian Reserve Recruiting NCT04643925 Phase 4 Ovitrelle
31 Assessing Efficacy of IV Acetaminophen for Perioperative Pain Control for Oocyte Retrieval: a Randomized, Double Blind, Placebo-controlled Trial Recruiting NCT03073980 Phase 4 IV Acetaminophen;PO Acetaminophen
32 How do Different Ovarian Stimulation Protocols Affect Endometrial Receptivity During a Fresh In-vitro Fertilization Attempt Recruiting NCT03755973 Phase 4 CFA;rFSH
33 Cabergoline Before or After Oocyte Collection for Follicular Resolution Recruiting NCT04096027 Phase 4 Cabergoline Pill
34 Comparison of Oral Dydrogesterone Versus Micronized Vaginal Progesterone for Luteal Phase Support in Frozen-thawed Embryo Transfer Cycles: a Randomized Controlled Trial Recruiting NCT04124913 Phase 4 Dydrogesterone 10 MG Oral Tablet;Progesterone Vaginal Gel [Crinone]
35 Live Birth After Additional Tubal Flushing With Oil-based Contrast Versus no Additional Flushing: a Randomised, Multicentre, Parallel Group Pragmatic Trial in Infertile Women With at Least One Patent Tube at Hysterosalpingo-foam Sonography Not yet recruiting NCT04379973 Phase 4 Lipiodol Ultra Fluide®
36 Vaginal Isonicotinic Acid Hydrazide (INH) Prior to Diagnostic Office Hysteroscopy in Primarily Infertile Patients: a Randomized Controlled Trial Not yet recruiting NCT04500522 Phase 4 INH;Placebo
37 Exploratory Study on the Impact of Different Doses and Route of Administration of Exogenous Progesterone in Artificial Endometrial Preparation Cycles on Endometrial Structure and Function Not yet recruiting NCT04499131 Phase 4 Progesterone
38 Dydrogesterone Versus Micronized Vaginal Progesterone (MVP) for Luteal Phase Support (LPS) in Hormone Replacement Therapy (HRT) Frozen Embryo Transfer (FET) Cycles. Not yet recruiting NCT04758871 Phase 4 Dydrogesterone 10 MG Oral Tablet;Micronized progesterone
39 Endometrial Preparation Using Letrozole Compared to Artificial Cycle for Frozen Embryo Transfer in PCOS Patients Withdrawn NCT04002635 Phase 4 Letrozole;estradiol valerate
40 Prospective Randomized Trial on the Level of Anti-Mullerian Hormone (AMH) in Women Undergoing Controlled Ovarian Stimulation for IVFwith Gonadotropins. Unknown status NCT02237781 Phase 2, Phase 3 Gonadotropins
41 Prospective Randomized Trial on the Effect of Clomiphene Citrate Administration in Women With Poor Ovarian Reserve Undergoing Controlled Ovarian Stimulation for IVF. Impact on Stimulation Characteristics and Pregnancy Outcome. Unknown status NCT02237755 Phase 2, Phase 3 Clomiphene citrate;Gonadotropins
42 Impact of Gonadotrophin Releasing Hormone Analogues on Oocyte and Embryo Quality in Intracytoplasmic Sperm Injection Cycles. Unknown status NCT03139474 Phase 2, Phase 3 Gonadotropin-Releasing Hormone Analogue;Gonadotropin releasing hormone antagonist
43 Efficacy of Combined Letrozole-metformin in Comparison With Letrozole Only in Clomiphene Resistant Infertile Women With Polycystic Ovarian Syndrome Unknown status NCT03135301 Phase 3 letrozole plus metformin;letrozole
44 Is Early Preparation With GnRh Agonists Injection on D-1 of Menses of Hormonal Replacement Cycle Improves Pregnancy Rate in Women With Impaired Ovulation and Undergoing Frozen-Thawed Embryo Transfer? A Randomized Controlled Study Unknown status NCT03353883 Phase 2, Phase 3 Triptorelin SR
45 Pretreatment With Myo-inositol in Hyperandrogenic PCOS Patients Undergoing ART: a Randomized Controlled Trial Unknown status NCT03767569 Phase 3 Myo-inositol;Folic Acid
46 A Clinical Study to Assess the Effectiveness of Homeopathic Treatment in Female Infertility Completed NCT02175498 Phase 3 Homoeopathic medicines
47 Effect of N-Acetyl Cysteine on Expression of HOXA Cluster Genes in Endometrium of Women With Recurrent Implantation Failure (RIF) During Implantation Window: a Double-blinded Randomized Research Completed NCT03862586 Phase 3 N-acetyl cysteine;Placebos
48 A Double-Blind, Double-Dummy, Randomized, Two-arm, Multicenter Study Comparing the Efficacy, Safety and Tolerability of Oral Dydrogesterone 30 mg Daily Versus Intravaginal Micronized Progesterone Capsules 600 mg Daily for Luteal Support in In-Vitro Fertilization (Lotus I) Completed NCT01850030 Phase 3 Dydrogesterone 30 mg;Micronized Progesterone 600 mg;Placebo progesterone;Placebo dydrogesterone
49 A Randomized, Open-label, Two-arm, Multicenter Study Comparing the Efficacy, Safety and Tolerability of Oral Dydrogesterone 30 mg Daily Versus Crinone 8% Intravaginal Progesterone Gel 90 mg Daily for Luteal Support in In-Vitro Fertilization (LOTUS II) Completed NCT02491437 Phase 3 Dydrogesterone 30 mg;intravaginal progesterone gel 90 mg
50 A Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of Three Dosage Strengths of Pulsatile GnRH Administered Intravenously or Subcutaneously (Via Portable Infusion Pump) Compared to Oral Treatment With Clomiphene Citrate in Anovulatory or Oligoovulatory Infertile Females Completed NCT00296465 Phase 2, Phase 3 Pulsatile gonadotropin-releasing hormone (GnRH);Clomiphene Citrate;Placebo Pulsatile GnRH;Placebo Clomiphene Citrate

Search NIH Clinical Center for Oocyte Maturation Defect 1

Cochrane evidence based reviews: infertility, female

Genetic Tests for Oocyte Maturation Defect 1

Genetic tests related to Oocyte Maturation Defect 1:

# Genetic test Affiliating Genes
1 Oocyte Maturation Defect 1 29 ZP1

Anatomical Context for Oocyte Maturation Defect 1

MalaCards organs/tissues related to Oocyte Maturation Defect 1:

Uterus, Ovary, Pituitary, Thyroid, Bone Marrow, Bone, Cortex

Publications for Oocyte Maturation Defect 1

Articles related to Oocyte Maturation Defect 1:

(show top 50) (show all 51)
# Title Authors PMID Year
Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation. 57 6
30810869 2019
Mutant ZP1 in familial infertility. 6 57
24670168 2014
Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment. 6
32063091 2020
Factors Associated with In Vitro Fertilization Live Birth Outcome: A Comparison of Different Classification Methods. 61
33687166 2021
Top 10 priorities for future infertility research: an international consensus development study. 61
33272617 2021
Top 10 priorities for future infertility research: an international consensus development study†  ‡. 61
33252677 2020
Azoospermia Secondary to a Novel X-Autosomal Reciprocal Translocation: 46,Y, t(X:16)(p22.1:p11.2). 61
32236419 2020
Urologic conditions associated with malignancy. 61
30611645 2020
Prediction of in vitro fertilization outcome at different antral follicle count thresholds combined with female age, female cause of infertility, and ovarian response in a prospective cohort of 8269 women. 61
31593108 2019
Impact of infertility and infertility treatments on quality of life and levels of anxiety and depression in women undergoing in vitro fertilization. 61
30612477 2019
The Risk of Psychiatric Morbidity and Course of Distress in Males Undergoing Infertility Evaluation Is Affected by Their Factor of Infertility. 61
30819064 2019
ICSI does not increase the cumulative live birth rate in non-male factor infertility. 61
29897449 2018
Major depression, antidepressant use, and male and female fertility. 61
29778387 2018
Neonatal Genistein Exposure and Glucocorticoid Signaling in the Adult Mouse Uterus. 61
29624291 2018
Positive effect of probiotic Lactobacillus plantarum in reversing LPS-induced infertility in a mouse model. 61
26872701 2016
Causes of Sterility in Bosnia-Herzegovina Population. 61
26244044 2015
Assisted reproductive technology and the risk of preterm birth among primiparas. 61
25707336 2015
Analysis of the serum reproductive system related autoantibodies of infertility patients in Tianjin region of China. 61
26550366 2015
microRNA 376a regulates follicle assembly by targeting Pcna in fetal and neonatal mouse ovaries. 61
24686458 2014
A randomized clinical trial to determine optimal infertility treatment in older couples: the Forty and Over Treatment Trial (FORT-T). 61
24796764 2014
Birth characteristics in a clinical sample of women seeking infertility treatment: a case-control study. 61
24613821 2014
Telomere lengths in human pronuclei, oocytes and spermatozoa. 61
23519357 2013
Elective single blastocyst transfer is more suitable for normal responders than for high responders. 61
23769570 2013
Hormone profile of menopausal women in Havana. 61
22580548 2012
Preservation of fertility in females treated for cancer. 61
22904668 2012
Markers of genital tuberculosis in infertility. 61
22159927 2011
De novo exceptional complex chromosomal rearrangement in a healthy fertile male: case report and review of the literature. 61
21851937 2011
Permanent oviduct posteriorization after neonatal exposure to the phytoestrogen genistein. 61
21810550 2011
Unexplained infertility: overall ongoing pregnancy rate and mode of conception. 61
21163857 2011
Fertility preservation. 61
21193655 2011
Effect of body mass index on in vitro fertilization outcomes in women. 61
21234174 2010
Metabolic syndrome and urologic diseases. 61
21234260 2010
Aromatase inhibitors for female infertility: a systematic review of the literature. 54
19909585 2009
[Effects of bushen zhuyun recipe on protein expressions of estrogen receptor, progesterone receptor and integrin alpha5 and beta3 in endometrium of rats at the implantation stage]. 61
19852297 2009
Aromatase gene (CYP19A1) variants, female infertility and ovarian stimulation outcome: a preliminary report. 54
19549443 2009
Male infertility, female fertility and extrapair copulations. 61
19344430 2009
Prospective longitudinal cohort study on cumulative 5-year delivery and adoption rates among 1338 couples initiating infertility treatment. 61
19136480 2009
Female infertility and disrupted angiogenesis are actions of specific follistatin isoforms. 54
17932109 2008
A unique preovulatory expression pattern plays a key role in the physiological functions of BMP-15 in the mouse. 54
16818886 2006
2003 American Urological Association Gallup survey: physician practice patterns, cryosurgery/brachytherapy, male infertility, female urology and insurance/professional liability. 61
15126822 2004
Analysis of factors influencing pregnancy rates in homologous intrauterine insemination. 61
15136095 2004
Y Chromosome Infertility 61
20301513 2002
Embryo score is a better predictor of pregnancy than the number of transferred embryos or female age. 61
11239536 2001
Cryptorchidism in mice mutant for Insl3. 61
10391220 1999
Do human eggs attract spermatozoa? 61
10333729 1999
Overexpression of mouse follistatin causes reproductive defects in transgenic mice. 61
9440814 1998
The prognosis for live birth among untreated infertile couples. 61
7789569 1995
Confounding variables affecting in vitro fertilization success: a decade of experience. 61
7670279 1995
Serum beta-human chorionic gonadotropin, estradiol and progesterone as early predictors of pathologic pregnancy. 54
1373448 1992
Roxithromycin treatment of mouse chlamydial salpingitis and protective effect on fertility. 61
2039193 1991

Variations for Oocyte Maturation Defect 1

ClinVar genetic disease variations for Oocyte Maturation Defect 1:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZP1 NM_207341.3(ZP1):c.1169_1176del (p.Ile390fs) Deletion Pathogenic 127200 rs587777362 GRCh37: 11:60640688-60640695
GRCh38: 11:60873215-60873222
2 ZP1 NM_207341.3(ZP1):c.1708G>A (p.Val570Met) SNV Pathogenic 689404 rs763617076 GRCh37: 11:60642655-60642655
GRCh38: 11:60875182-60875182
3 ZP1 NM_207341.3(ZP1):c.1430+1G>T SNV Pathogenic 689405 rs1590594990 GRCh37: 11:60641038-60641038
GRCh38: 11:60873565-60873565
4 ZP1 NM_207341.3(ZP1):c.1775-8T>C SNV Pathogenic 689406 rs1307369466 GRCh37: 11:60642979-60642979
GRCh38: 11:60875506-60875506
5 ZP1 NM_207341.4(ZP1):c.1338_1341del (p.Asp447fs) Deletion Pathogenic 1033696 GRCh37: 11:60640942-60640945
GRCh38: 11:60873469-60873472
6 ZP1 NM_207341.4(ZP1):c.1655-1G>T SNV Pathogenic 1033697 GRCh37: 11:60642601-60642601
GRCh38: 11:60875128-60875128
7 TUBB8 NM_177987.2(TUBB8):c.763G>A (p.Val255Met) SNV Likely pathogenic 694522 rs782269374 GRCh37: 10:93569-93569
GRCh38: 10:47629-47629
8 PABPC1L NM_001372179.1(PABPC1L):c.77T>A (p.Met26Lys) SNV Likely pathogenic 812689 GRCh37: 20:43538861-43538861
GRCh38: 20:44910220-44910220
9 ZP1 NM_207341.3(ZP1):c.1168del (p.Ile390fs) Deletion Likely pathogenic 812693 GRCh37: 11:60640690-60640690
GRCh38: 11:60873217-60873217
10 STAG3 NM_001282716.1(STAG3):c.2776C>T (p.Arg926Ter) SNV Likely pathogenic 374000 rs764841861 GRCh37: 7:99801719-99801719
GRCh38: 7:100204096-100204096
11 TUBB8 NM_177987.2(TUBB8):c.600T>G (p.Phe200Leu) SNV Uncertain significance 522599 rs148025238 GRCh37: 10:93732-93732
GRCh38: 10:47792-47792

Expression for Oocyte Maturation Defect 1

Search GEO for disease gene expression data for Oocyte Maturation Defect 1.

Pathways for Oocyte Maturation Defect 1

GO Terms for Oocyte Maturation Defect 1

Biological processes related to Oocyte Maturation Defect 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.16 FST BMP15
2 female gonad development GO:0008585 8.96 FST CYP19A1
3 oocyte maturation GO:0001556 8.62 TUBB8 PABPC1L

Sources for Oocyte Maturation Defect 1

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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