ZP1 gene related symptoms and diseases

All the information presented here about the ZP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ZP1 gene

Symptoms // Phenotype % Cases
Infertility Very Common - Between 80% and 100% cases
Empty ovarian follicle Uncommon - Between 30% and 50% cases

Rare diseases associated to ZP1 gene

Here you will find a list of rare diseases related to the ZP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FEMALE INFERTILITY DUE TO ZONA PELLUCIDA DEFECT

Description

Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.

Most common symptoms of FEMALE INFERTILITY DUE TO ZONA PELLUCIDA DEFECT

  • Infertility
  • Empty ovarian follicle


More info about FEMALE INFERTILITY DUE TO ZONA PELLUCIDA DEFECT

SOURCES: OMIM ORPHANET

OOCYTE MATURATION DEFECT 1; OOMD1

Alternate names

OOCYTE MATURATION DEFECT 1; OOMD1 Is also known as oomd

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.

Most common symptoms of OOCYTE MATURATION DEFECT 1; OOMD1

  • Infertility


More info about OOCYTE MATURATION DEFECT 1; OOMD1

SOURCES: OMIM


Potential gene panels for ZP1 gene

Oocyte Maturation Defect (OOMD) via ZP1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ZP1 gene.

More info about this panel
United States.

Female Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: BMP15 SEMA3A SEMA3E FOXL2 SOX10 SOX2 SOX3 SOX9 SRA1 SRD5A2

More info about this panel
United States.

Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1

More info about this panel
United States.

Oocyte maturation defect Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ZP1 gene.

More info about this panel
Germany.

ZP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ZP1 gene.

More info about this panel
United States.

Phosphorus Female Infertility Panel Panel

United States.

By Phosphorus Diagnostics LLC Phosphorus Female Infertility Panel that also includes the following genes: BMP15 FOXL2 STAG3 ZP1 CAPN10 THADA NOBOX CYP11A1 CYP17A1 CYP19A1

More info about this panel
United States.

Female infertility genetic testing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Female infertility genetic testing that also includes the following genes: BMP15 ZP1 FMR1 FSHR LHB LHCGR

More info about this panel
Canada.

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