Oocyte Maturation Defect 1; Oomd1

Description

The zona pellucida 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). Genetic Heterogeneity of Oocyte Maturation DefectsAlso see OOMD2 (OMIM ), caused by mutation in the TUBB8 gene (OMIM ) on chromosome 10p15; OOMD3 (OMIM ), caused by mutation in the ZP3 gene (OMIM ) on chromosome 7q11; OOMD4 (OMIM ), caused by mutation in the PATL2 gene (OMIM ) on chromosome 15q21; and OOMD5 (OMIM ), caused by mutation in the WEE2 gene (OMIM ) on chromosome 7q34.

Clinical Features

Phenotypes and symptoms related to Oocyte Maturation Defect 1; Oomd1

  • Infertility

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Oocyte Maturation Defect 1; Oomd1 Is also known as oomd.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Oocyte Maturation Defect 1; Oomd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Oocyte Maturation Defect (OOMD) via ZP1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ZP1
Specificity
100 %
Genes
100 %
Female Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BMP15, SEMA3A, SEMA3E, FOXL2, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, TAC3, TACR3, WNT4, WT1, WWOX, ZP1, ARL6 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Oocyte maturation defect.

By Centogene AG - the Rare Disease Company (Germany).

ZP1
Specificity
100 %
Genes
100 %
ZP1.

By Fulgent Genetics Fulgent Genetics (United States).

ZP1
Specificity
100 %
Genes
100 %
Phosphorus Female Infertility Panel.

By Phosphorus Diagnostics LLC (United States).

BMP15, FOXL2, STAG3, ZP1, CAPN10, THADA, NOBOX, CYP11A1, CYP17A1, CYP19A1, DENND1A, F2, F5, FMR1, FSHB, FSHR, GALT, GDF9, GNAS, GNRHR , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Female infertility genetic testing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

BMP15, ZP1, FMR1, FSHR, LHB, LHCGR
Specificity
17 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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