OOMD5
MCID: OCY006
MIFTS: 13

Oocyte Maturation Defect 5 (OOMD5)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 5

MalaCards integrated aliases for Oocyte Maturation Defect 5:

Name: Oocyte Maturation Defect 5 57 75 6
Oomd5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 4 unrelated chinese women (last curated june 2018)


Classifications:



External Ids:

OMIM 57 617996
MedGen 42 CN238505
MeSH 44 D007247

Summaries for Oocyte Maturation Defect 5

OMIM : 57 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 (WEE1 Homolog 2).

UniProtKB/Swiss-Prot : 75 Oocyte maturation defect 5: An autosomal recessive infertility disorder characterized by oocyte inability to exit metaphase II, resulting in fertilization failure.

Related Diseases for Oocyte Maturation Defect 5

Symptoms & Phenotypes for Oocyte Maturation Defect 5

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
infertility
oocyte maturation arrest at metaphase ii
inability to form pronuclei after fertilization


Clinical features from OMIM:

617996

Drugs & Therapeutics for Oocyte Maturation Defect 5

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 5

Genetic Tests for Oocyte Maturation Defect 5

Anatomical Context for Oocyte Maturation Defect 5

Publications for Oocyte Maturation Defect 5

Variations for Oocyte Maturation Defect 5

ClinVar genetic disease variations for Oocyte Maturation Defect 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WEE2 NM_001105558.1(WEE2): c.700G> C (p.Asp234His) single nucleotide variant Pathogenic GRCh37 Chromosome 7, 141418986: 141418986
2 WEE2 NM_001105558.1(WEE2): c.700G> C (p.Asp234His) single nucleotide variant Pathogenic GRCh38 Chromosome 7, 141719186: 141719186
3 WEE2 NM_001105558.1(WEE2): c.1473dup (p.Thr493Asnfs) duplication Pathogenic GRCh38 Chromosome 7, 141727384: 141727384
4 WEE2 NM_001105558.1(WEE2): c.1473dup (p.Thr493Asnfs) duplication Pathogenic GRCh37 Chromosome 7, 141427184: 141427184
5 WEE2 NM_001105558.1(WEE2): c.220_223delAAAG (p.Glu75Valfs) deletion Pathogenic GRCh38 Chromosome 7, 141708978: 141708981
6 WEE2 NM_001105558.1(WEE2): c.220_223delAAAG (p.Glu75Valfs) deletion Pathogenic GRCh37 Chromosome 7, 141408778: 141408781

Expression for Oocyte Maturation Defect 5

Search GEO for disease gene expression data for Oocyte Maturation Defect 5.

Pathways for Oocyte Maturation Defect 5

GO Terms for Oocyte Maturation Defect 5

Sources for Oocyte Maturation Defect 5

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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31 HMDB
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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