OOMD6
MCID: OCY007
MIFTS: 8

Oocyte Maturation Defect 6 (OOMD6)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 6

MalaCards integrated aliases for Oocyte Maturation Defect 6:

Name: Oocyte Maturation Defect 6 58 6
Oomd6 58

Classifications:



External Ids:

OMIM 58 618353

Summaries for Oocyte Maturation Defect 6

OMIM : 58 Oocyte maturation defect-6 is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients (Dai et al., 2019). (618353)

MalaCards based summary : Oocyte Maturation Defect 6, is also known as oomd6. An important gene associated with Oocyte Maturation Defect 6 is ZP2 (Zona Pellucida Glycoprotein 2).

Related Diseases for Oocyte Maturation Defect 6

Symptoms & Phenotypes for Oocyte Maturation Defect 6

Clinical features from OMIM:

618353

Drugs & Therapeutics for Oocyte Maturation Defect 6

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 6

Genetic Tests for Oocyte Maturation Defect 6

Anatomical Context for Oocyte Maturation Defect 6

Publications for Oocyte Maturation Defect 6

Variations for Oocyte Maturation Defect 6

ClinVar genetic disease variations for Oocyte Maturation Defect 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZP2 NM_003460.2(ZP2): c.1695-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 16, 21211201: 21211201
2 ZP2 NM_003460.2(ZP2): c.1695-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 16, 21199880: 21199880
3 ZP2 NM_003460.2(ZP2): c.1691_1694dup (p.Cys566Trpfs) duplication Pathogenic GRCh37 Chromosome 16, 21212690: 21212693
4 ZP2 NM_003460.2(ZP2): c.1691_1694dup (p.Cys566Trpfs) duplication Pathogenic GRCh38 Chromosome 16, 21201369: 21201372

Expression for Oocyte Maturation Defect 6

Search GEO for disease gene expression data for Oocyte Maturation Defect 6.

Pathways for Oocyte Maturation Defect 6

GO Terms for Oocyte Maturation Defect 6

Sources for Oocyte Maturation Defect 6

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10 dbSNP
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17 EFO
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20 FMA
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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