OOMD5
MCID: OCY006
MIFTS: 14

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 58 76 6
Oomd5 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 617996
MeSH 45 D007247
SNOMED-CT via HPO 70 15296000 8619003

Summaries for Oocyte Maturation Defect 5

OMIM : 58 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). Related phenotype is infertility.

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Oocyte Maturation Defect 5:

33
# Description HPO Frequency HPO Source Accession
1 infertility 33 HP:0000789

Symptoms via clinical synopsis from OMIM:

58
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

Articles related to Oocyte Maturation Defect 5:

# Title Authors Year
1
Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. ( 29606300 )
2018

Variations for Oocyte Maturation Defect 5

UniProtKB/Swiss-Prot genetic disease variations for Oocyte Maturation Defect 5:

76
# Symbol AA change Variation ID SNP ID
1 WEE2 p.Asp234His VAR_080992

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 rs1554415096 GRCh37 Chromosome 7, 141418986: 141418986
2 WEE2 NM_001105558.1(WEE2): c.700G> C (p.Asp234His) single nucleotide variant Pathogenic rs1554415096 GRCh38 Chromosome 7, 141719186: 141719186
3 WEE2 NM_001105558.1(WEE2): c.1473dup (p.Thr493Asnfs) duplication Pathogenic rs1554416415 GRCh38 Chromosome 7, 141727384: 141727384
4 WEE2 NM_001105558.1(WEE2): c.1473dup (p.Thr493Asnfs) duplication Pathogenic rs1554416415 GRCh37 Chromosome 7, 141427184: 141427184
5 WEE2 NM_001105558.1(WEE2): c.220_223delAAAG (p.Glu75Valfs) deletion Pathogenic rs768323979 GRCh38 Chromosome 7, 141708978: 141708981
6 WEE2 NM_001105558.1(WEE2): c.220_223delAAAG (p.Glu75Valfs) deletion Pathogenic rs768323979 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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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