OOMD5
MCID: OCY006
MIFTS: 17

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 74 29 6
Oomd5 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
oocyte maturation defect 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

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). Related phenotype is infertility.

UniProtKB/Swiss-Prot : 74 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:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789

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

Genetic tests related to Oocyte Maturation Defect 5:

# Genetic test Affiliating Genes
1 Oocyte Maturation Defect 5 29 WEE2

Anatomical Context for Oocyte Maturation Defect 5

Publications for Oocyte Maturation Defect 5

Articles related to Oocyte Maturation Defect 5:

# Title Authors PMID Year
1
Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. 8 71
29606300 2018

Variations for Oocyte Maturation Defect 5

ClinVar genetic disease variations for Oocyte Maturation Defect 5:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 WEE2 NM_001105558.1(WEE2): c.700G> C (p.Asp234His) single nucleotide variant Pathogenic rs1554415096 7:141418986-141418986 7:141719186-141719186
2 WEE2 NM_001105558.1(WEE2): c.1477dup (p.Thr493fs) duplication Pathogenic rs1554416415 7:141427184-141427184 7:141727384-141727384
3 WEE2 NM_001105558.1(WEE2): c.220_223delAAAG short repeat Pathogenic rs768323979 7:141408778-141408781 7:141708978-141708981

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

74
# Symbol AA change Variation ID SNP ID
1 WEE2 p.Asp234His VAR_080992 rs155441509

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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