OOMD1
MCID: OCY001
MIFTS: 38

Oocyte Maturation Defect (OOMD1) malady

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Oocyte Maturation Defect

Aliases & Descriptions for Oocyte Maturation Defect:

Name: Oocyte Maturation Defect 54 24 69
Oocyte Maturation Defect 1 66 29
Female Infertility Due to Zona Pellucida Defect 56
Infertility, Female 42
Oomd1 66
Oomd 66

Characteristics:

Orphanet epidemiological data:

56
female infertility due to zona pellucida defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

HPO:

32
oocyte maturation defect:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare infertility disorders


External Ids:

OMIM 54 615774
Orphanet 56 ORPHA404466
ICD10 via Orphanet 34 N97.8
MedGen 40 CN186706
MeSH 42 D007247
ICD10 33 N97

Summaries for Oocyte Maturation Defect

OMIM : 54 The zona pellucida is a glycoprotein matrix that surrounds oocytes and has an average thickness of 17 micrometers. It... (615774) more...

MalaCards based summary : Oocyte Maturation Defect, also known as oocyte maturation defect 1, is related to oocyte maturation defect 2 and female infertility of uterine origin, and has symptoms including infertility An important gene associated with Oocyte Maturation Defect 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 Metformin and Selenium have been mentioned in the context of this disorder. Affiliated tissues include uterus, and related phenotypes are endocrine/exocrine gland and reproductive system

UniProtKB/Swiss-Prot : 66 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

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



Diseases related to Oocyte Maturation Defect

Symptoms & Phenotypes for Oocyte Maturation Defect

Symptoms by clinical synopsis from OMIM:

615774

Clinical features from OMIM:

615774

Human phenotypes related to Oocyte Maturation Defect:

32
id Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789

MGI Mouse Phenotypes related to Oocyte Maturation Defect:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.35 BMP15 CGA CYP19A1 FST ZP1
2 reproductive system MP:0005389 9.02 BMP15 CGA CYP19A1 FST ZP1

Drugs & Therapeutics for Oocyte Maturation Defect

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

(show top 50) (show all 650)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
2
Selenium Approved, Vet_approved Phase 4,Phase 2 7782-49-2
3
Ganirelix Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 123246-29-7, 124904-93-4 25081094
4
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Early Phase 1 137-58-6 3676
5
Leuprolide Approved, Investigational Phase 4,Phase 3 53714-56-0 3911 657181
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 50-02-2 5743
7
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-28-2 5757 53477783
8
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 57-83-0 5994
9
Cetrorelix Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 120287-85-6 16129715 25074887
10
Letrozole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 112809-51-5 3902
11
Menotropins Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 61489-71-2 5360545
12
Buserelin Approved Phase 4,Phase 3,Phase 1,Phase 2 57982-77-1
13
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
14
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 2180-92-9, 38396-39-3 2474
15
Goserelin Approved Phase 4,Phase 3 65807-02-5 47725 5311128
16
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
17
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-18-4 6010
18
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-22-0 6013
19
Diclofenac Approved, Vet_approved Phase 4,Phase 3 15307-86-5 3033
20
Lenograstim Approved Phase 4,Phase 3,Phase 2,Phase 1 135968-09-1
21
Menthol Approved Phase 4,Phase 3,Phase 1,Phase 2,Early Phase 1 2216-51-5 16666
22
Clindamycin Approved, Vet_approved Phase 4,Phase 3 18323-44-9 29029
23
Misoprostol Approved Phase 4,Phase 3,Phase 2 59122-46-2 5282381
24
Oxytocin Approved, Vet_approved Phase 4,Phase 2,Phase 1 50-56-6 439302 53477758
25
Zinc Approved Phase 4,Phase 2,Phase 3 7440-66-6 32051 23994
26
Chlorhexidine Approved, Vet_approved Phase 4,Phase 3,Phase 2 55-56-1 9552079 2713
27
Povidone-iodine Approved Phase 4,Phase 3,Phase 2 25655-41-8
28
Acetaminophen Approved Phase 4,Phase 3 103-90-2 1983
29
Tamoxifen Approved Phase 4,Phase 3 10540-29-1 2733526
30
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
31
Medroxyprogesterone acetate Approved, Investigational Phase 4,Phase 3 71-58-9
32
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
33
Heparin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 9005-49-6 772 46507594
34
Danazol Approved Phase 4,Phase 2 17230-88-5 28417
35
Desogestrel Approved Phase 4 54024-22-5 40973
36
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3 9004-61-9 53477741 24759
37
Nafarelin Approved Phase 4 76932-56-4 16129618 25077649
38
Acetylcysteine Approved, Investigational Phase 4,Phase 1 616-91-1 12035
39
Azithromycin Approved Phase 4 83905-01-5 55185 53477736 447043
40
Cefixime Approved Phase 4 79350-37-1 54362 5362065
41
Tramadol Approved, Investigational Phase 4,Phase 3 27203-92-5 33741
42
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
43
Cabergoline Approved Phase 4,Phase 2,Phase 3,Phase 1 81409-90-7 54746
44
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-61-6, 62-31-7 681
45
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
46
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
47
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
48
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
49
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
50
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755

Interventional clinical trials:

(show top 50) (show all 1714)
id Name Status NCT ID Phase
1 Long Acting FSH Plus Antagonist Versus Daily FSH Plus Antagonist Versus Short Agonist Protocol in Poor Responders Undergoing IVF Unknown status NCT02070198 Phase 4
2 Comparison of Assisted Reproductive Technology (ART) Outcomes Between Two Protocols of Induction of Ovulation in Patients With Hypogonadotropic Hypogonadism Unknown status NCT02140515 Phase 4
3 Endometrial Scratching During Laproscopic Ovarian Drilling in Subfertile PCOS Women Unknown status NCT02140398 Phase 4
4 Intrauterine Injection of Human Chorionic Gonadotropin Before Embryo Transfer in Women With Previous IVF Failure Unknown status NCT02329197 Phase 4
5 IUI vs. IVF/ICSI in Women Aged 38-42 Years: a Prospective Randomized Controlled Trial. Unknown status NCT01992731 Phase 4
6 Strategies for Ovulation Induction in Anovulatory Infertile Patients With PCOS Unknown status NCT00461643 Phase 4
7 The Effect of LH-Priming During Early Follicular Phase in IVF Treatment. Unknown status NCT00334425 Phase 4
8 Selenium Supplementation in Pregnancy Unknown status NCT01465867 Phase 4
9 Physical Activity and ARTs Unknown status NCT01892111 Phase 4
10 Ovarian Stimulation: Inositol and Melatonin Unknown status NCT01267604 Phase 4
11 Type of Gonadotropin and Embryo Kinetics of Development Unknown status NCT02402192 Phase 4
12 Metformin in Step-down Regimen Versus Conventional Low Dose Step-up Protocol in Patients With PCOS Undergoing IVF Unknown status NCT01438190 Phase 4
13 Prophylactic Lidocaine Spray for Pain Alleviation in Women Undergoing Osmotic Dilator Insertion for Second Trimester Dilatation and Evacuation Unknown status NCT02097017 Phase 4
14 Comparison of the Long GnRH Agonist Protocol and the Flexible GnRH Antagonist Protocol of Ovarian Stimulation Unknown status NCT00417183 Phase 4
15 Study of Dual Trigger Ovulation in Oocyte Donors Unknown status NCT01443546 Phase 4
16 Ovulation Induction With Clomiphene Citrate and Dexamethasone Unknown status NCT01856062 Phase 4
17 Comparison Between Natural and Artificial Cycle in Recipient Oocyte Patients Unknown status NCT01353846 Phase 4
18 Luteal Phase Support With Progesterone Versus Estrogen and Progesterone on Pregnancy Rates Unknown status NCT01237535 Phase 4
19 Negative Pressure Wound Therapy After Cesarean Delivery Unknown status NCT01637870 Phase 4
20 Corifollitropin Alfa Versus Follitropin Beta in High Responders Unknown status NCT02471677 Phase 4
21 Comparison of Ovarian Mild Stimulation and Controlled Ovarian Stimulation in Poor Ovarian Responders Unknown status NCT01926210 Phase 4
22 Intrauterine Insemination and Luteal Fase Support Unknown status NCT01826747 Phase 4
23 Comparison Between hCG and GnRH Agonist for Ovulation Induction in Patients With High Response to IVF Drugs Unknown status NCT00415792 Phase 4
24 Treatment of Infertility by Collagen Scaffold Loaded With Autologous Bone Marrow Stem Cells Unknown status NCT02204358 Phase 4
25 Surgical Ovarian Drilling Versus Hormonal Treatment for Infertility Associated to PolyCystic Ovaries Syndrome (PCOS) Unknown status NCT00378729 Phase 4
26 Home Usage of Conception Kit Instructions Unknown status NCT00326651 Phase 4
27 Multicenter, Randomized, Open Label, Parallel Study to Evaluate the Efficacy & Safety of IVF-M HP Inj. vs. Menopur® Inj. Completed NCT02458768 Phase 4
28 Severe LH Suppressed Patients After Administration of a GnRH Antagonist Completed NCT01936077 Phase 4
29 There is a Value of Luteinizing Hormone Predictive of in Vitro Fertilization Treatment Outcome in Antagonist Protocols? Completed NCT02328924 Phase 4
30 Impact of Clomiphene Citrate Administration During the Early Luteal Phase on Endocrine Profile in IVF Cycles Completed NCT01791751 Phase 4
31 Microflare Protocol in Poor Responders Completed NCT02185326 Phase 4
32 IVF/ICSI Protocols in Poor Responders With Growth Hormone Completed NCT01897324 Phase 4
33 Antagonist Protocol in Poor Responders Completed NCT02195947 Phase 4
34 Efficacy of Embryo Transfer Procedure Guided by Transvaginal Ultrasound Versus Abdominal Ultrasound in Oocytes Recipients Completed NCT01137461 Phase 4
35 Metformin Versus Acarbose Treatment in Infertile Overweight Women With Polycystic Ovary Syndrome (PCOS) Completed NCT01279512 Phase 4
36 Efficacy and Safety of R-hLH (Luveris ®) Priming Prior to R-HFSH Treatment in Infertile Women Undergoing IVF-ET Completed NCT00441324 Phase 4
37 Endometrial Shedding Prior to Ovulation Induction Pilot Study Completed NCT02340013 Phase 4
38 Progesterone Serum Levels in Subfertile Female Patients Undergoing in Vitro Fertilisation (IVF) Completed NCT01225835 Phase 4
39 PCOSMIC Trial - PolyCystic Ovary Syndrome, Metformin for Infertility With Clomiphene Completed NCT00795808 Phase 4
40 Comparison of Crinone 8% Intravaginal Gel and IM Progesterone Supplementation for In Vitro Fertilization (IVF) Completed NCT00656201 Phase 4
41 The Effect of Ethinyl Estradiol on Polycystic Ovary Syndrome Women Undergoing Intrauterine Insemination Completed NCT01219101 Phase 4
42 Sexual Absorption of Vaginal Progesterone Completed NCT01959464 Phase 4
43 Ovarian Stimulation and Intrauterine Insemination in Women With Polycystic Ovarian Syndrome Completed NCT01675843 Phase 4
44 A Study to Compare the Safety and Efficacy of Cetrotide® 3 Milligram (mg) Versus Antagon™ in Women Undergoing Ovarian Stimulation Completed NCT00298025 Phase 4
45 Sucrose Analgesia for the Reduction of Pain During Retinopathy of Prematurity Screening Completed NCT00921544 Phase 4
46 Safety and Efficacy of a Pre-defined, Fixed Dose of Gonal-f Pen Based on Subject Baseline Characteristics in Subjects Undergoing IVF Completed NCT00249834 Phase 4
47 MENOPUR® Versus FOLLISTIM® Completed NCT00802360 Phase 4
48 Role of Laparoscopy in Unexplained Infertility Completed NCT00886041 Phase 4
49 Study to Examine Effect of Recombinant Luteinizing Hormone (r-Lh) and Recombinant Human Chorionic Gonadotropin (r-hCG) for Ovarian Stimulation in Assisted Reproduction Techniques (ART) Completed NCT01339299 Phase 4
50 Lipoic Acid Supplementation in IVF Completed NCT03023514 Phase 4

Search NIH Clinical Center for Oocyte Maturation Defect

Cochrane evidence based reviews: infertility, female

Genetic Tests for Oocyte Maturation Defect

Genetic tests related to Oocyte Maturation Defect:

id Genetic test Affiliating Genes
1 Oocyte Maturation Defect 1 29
2 Oocyte Maturation Defect 24 ZP1

Anatomical Context for Oocyte Maturation Defect

MalaCards organs/tissues related to Oocyte Maturation Defect:

39
Uterus

Publications for Oocyte Maturation Defect

Variations for Oocyte Maturation Defect

ClinVar genetic disease variations for Oocyte Maturation Defect:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ZP1 NM_207341.3(ZP1): c.1169_1176delTTTTCCCA (p.Ile390Thrfs) deletion Pathogenic rs587777362 GRCh37 Chromosome 11, 60640691: 60640698

Expression for Oocyte Maturation Defect

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

Pathways for Oocyte Maturation Defect

GO Terms for Oocyte Maturation Defect

Sources for Oocyte Maturation Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....