MCID: OCY001
MIFTS: 12

Oocyte Maturation Defect

Categories: Genetic diseases, Reproductive diseases, Rare diseases

Aliases & Classifications for Oocyte Maturation Defect

MalaCards integrated aliases for Oocyte Maturation Defect:

Name: Oocyte Maturation Defect 24 69

Classifications:



Summaries for Oocyte Maturation Defect

MalaCards based summary : Oocyte Maturation Defect is related to oocyte maturation defect 1 and oocyte maturation defect 2. An important gene associated with Oocyte Maturation Defect is ZP1 (Zona Pellucida Glycoprotein 1). The drugs Methyltestosterone and Testosterone have been mentioned in the context of this disorder.

Related Diseases for Oocyte Maturation Defect

Diseases in the Oocyte Maturation Defect family:

Oocyte Maturation Defect 2 Oocyte Maturation Defect 1

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

id Related Disease Score Top Affiliating Genes
1 oocyte maturation defect 1 12.4
2 oocyte maturation defect 2 12.4
3 aortic valve prolapse 9.5 TUBB8 ZP1
4 ostm1-related autosomal recessive osteopetrosis 9.2 TUBB8 ZP1

Symptoms & Phenotypes for Oocyte Maturation Defect

Drugs & Therapeutics for Oocyte Maturation Defect

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

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 1, Phase 2 58-18-4 6010
2
Testosterone Approved, Investigational Phase 1, Phase 2 58-22-0 6013
3
Dehydroepiandrosterone Approved, Nutraceutical Phase 1, Phase 2 53-43-0 9860744
4 Adjuvants, Immunologic Phase 1, Phase 2
5 Anabolic Agents Phase 1, Phase 2
6 Androgens Phase 1, Phase 2
7 Antineoplastic Agents, Hormonal Phase 1, Phase 2
8 Hormone Antagonists Phase 1, Phase 2
9 Hormones Phase 1, Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
11 Testosterone 17 beta-cypionate Phase 1, Phase 2
12
Testosterone enanthate Phase 1, Phase 2 315-37-7 9416
13 Testosterone undecanoate Phase 1, Phase 2
14 DHEA (Dehydroepiandrosterone) Nutraceutical Phase 1, Phase 2
15 Phytosterol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
2 Effect of Testosterone Treatment on Embryo Quality Recruiting NCT01662466 Phase 1, Phase 2 Testosterone cream (0.5mg per gram);Placebo
3 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
4 Human MATER and Idiopathic Infertility Completed NCT00361816
5 Single Center, Prospective Controlled Pilot Study of the OvaPrime Procedure Recruiting NCT03021915
6 In Vitro Follicle Activation Active, not recruiting NCT02496598 Follicle Activation

Search NIH Clinical Center for Oocyte Maturation Defect

Genetic Tests for Oocyte Maturation Defect

Genetic tests related to Oocyte Maturation Defect:

id Genetic test Affiliating Genes
1 Oocyte Maturation Defect 24 ZP1

Anatomical Context for Oocyte Maturation Defect

Publications for Oocyte Maturation Defect

Variations for Oocyte Maturation Defect

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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