OOMD10
MCID: OCY011
MIFTS: 11

Oocyte Maturation Defect 10 (OOMD10)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 10

MalaCards integrated aliases for Oocyte Maturation Defect 10:

Name: Oocyte Maturation Defect 10 57
Oomd10 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM® 57 619176
OMIM Phenotypic Series 57 PS615774

Summaries for Oocyte Maturation Defect 10

OMIM® : 57 Oocyte maturation defect-10 (OOMD10) is characterized by high rates of abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus. Morphologically normal zygotes often undergo early embryonic arrest, and surviving embryos fail to establish a successful pregnancy after implantation (Wang et al., 2020). For a discussion of genetic heterogeneity of OOMD, see OOMD1 (615774). (619176) (Updated 05-Mar-2021)

MalaCards based summary : Oocyte Maturation Defect 10, is also known as oomd10. An important gene associated with Oocyte Maturation Defect 10 is REC114 (REC114 Meiotic Recombination Protein).

Related Diseases for Oocyte Maturation Defect 10

Symptoms & Phenotypes for Oocyte Maturation Defect 10

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Female:
infertility
miscarriage
formation of multiple pronuclei during fertilization
early embryonic arrest
implantation failure

Clinical features from OMIM®:

619176 (Updated 05-Mar-2021)

Drugs & Therapeutics for Oocyte Maturation Defect 10

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 10

Genetic Tests for Oocyte Maturation Defect 10

Anatomical Context for Oocyte Maturation Defect 10

Publications for Oocyte Maturation Defect 10

Articles related to Oocyte Maturation Defect 10:

# Title Authors PMID Year
1
Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest. 57
31704776 2020

Variations for Oocyte Maturation Defect 10

Expression for Oocyte Maturation Defect 10

Search GEO for disease gene expression data for Oocyte Maturation Defect 10.

Pathways for Oocyte Maturation Defect 10

GO Terms for Oocyte Maturation Defect 10

Sources for Oocyte Maturation Defect 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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