OOMD5
MCID: OCY006
MIFTS: 17
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Oocyte Maturation Defect 5 (OOMD5)
Categories:
Fetal diseases, Genetic diseases, Reproductive diseases
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MalaCards integrated aliases for Oocyte Maturation Defect 5:Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
based on a report of 4 unrelated chinese women (last curated june 2018) HPO:31Classifications: |
OMIM :
56
Oocyte maturation defect-5 is characterized by female infertility due to inability of the oocyte to exit metaphase II, resulting in fertilization failure (Sang et al., 2018).
For a discussion of genetic heterogeneity of oocyte maturation defects, see OOMD1 (615774). (617996)
MalaCards based summary : Oocyte Maturation Defect 5, is also known as oomd5. An important gene associated with Oocyte Maturation Defect 5 is WEE2 (WEE2 Oocyte Meiosis Inhibiting Kinase). Related phenotype is infertility. UniProtKB/Swiss-Prot : 73 Oocyte maturation defect 5: An autosomal recessive infertility disorder characterized by oocyte inability to exit metaphase II, resulting in fertilization failure. |
Diseases in the Oocyte Maturation Defect 1 family:
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Human phenotypes related to Oocyte Maturation Defect 5:31
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Articles related to Oocyte Maturation Defect 5:
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ClinVar genetic disease variations for Oocyte Maturation Defect 5:6
UniProtKB/Swiss-Prot genetic disease variations for Oocyte Maturation Defect 5:73
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Search
GEO
for disease gene expression data for Oocyte Maturation Defect 5.
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