OOMD5
MCID: OCY006
MIFTS: 23

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 73 29 6
Oomd5 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

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


HPO:

31
oocyte maturation defect 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617996
OMIM Phenotypic Series 57 PS615774
MeSH 44 D007247
SNOMED-CT via HPO 68 15296000 258211005 8619003

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) (Updated 05-Mar-2021)

MalaCards based summary : Oocyte Maturation Defect 5, also known as oomd5, is related to female infertility due to oocyte meiotic arrest and infertility. 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.

Related Diseases for Oocyte Maturation Defect 5

Diseases in the Oocyte Maturation Defect 1 family:

Oocyte Maturation Defect 2 Oocyte Maturation Defect 3
Oocyte Maturation Defect 4 Oocyte Maturation Defect 5
Oocyte Maturation Defect 6 Oocyte Maturation Defect 7
Oocyte Maturation Defect 8 Oocyte Maturation Defect 9
Oocyte Maturation Defect 10

Diseases related to Oocyte Maturation Defect 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 female infertility due to oocyte meiotic arrest 9.8 WEE2 TUBB8
2 infertility 9.7 WEE2 TUBB8
3 oocyte maturation defect 1 9.5 TUBB8 PABPC1L

Symptoms & Phenotypes for Oocyte Maturation Defect 5

Human phenotypes related to Oocyte Maturation Defect 5:

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Female:
infertility
oocyte maturation arrest at metaphase ii
inability to form pronuclei after fertilization

Clinical features from OMIM®:

617996 (Updated 05-Mar-2021)

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
Novel mutations in WEE2: Expanding the spectrum of mutations responsible for human fertilization failure. 57 6
30628060 2019
2
Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. 6 57
29606300 2018

Variations for Oocyte Maturation Defect 5

ClinVar genetic disease variations for Oocyte Maturation Defect 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WEE2-AS1 NM_001105558.1(WEE2):c.700G>C (p.Asp234His) SNV Pathogenic 545469 rs1554415096 7:141418986-141418986 7:141719186-141719186
2 WEE2-AS1 NM_001105558.1(WEE2):c.1477dup (p.Thr493fs) Duplication Pathogenic 545470 rs1554416415 7:141427183-141427184 7:141727383-141727384
3 WEE2-AS1 NM_001105558.1(WEE2):c.220_223AAAG[1] (p.Glu75fs) Microsatellite Pathogenic 545471 rs768323979 7:141408778-141408781 7:141708978-141708981
4 WEE2-AS1 NM_001105558.1(WEE2):c.1228C>T (p.Arg410Trp) SNV Pathogenic 977295 7:141424832-141424832 7:141725032-141725032
5 WEE2-AS1 NM_001105558.1(WEE2):c.1221G>A (p.Glu407=) SNV Pathogenic 977296 7:141424075-141424075 7:141724275-141724275
6 WEE2-AS1 NM_001105558.1(WEE2):c.598C>T (p.Arg200Ter) SNV Pathogenic 977297 7:141418884-141418884 7:141719084-141719084
7 TUBB8 NM_177987.2(TUBB8):c.763G>A (p.Val255Met) SNV Likely pathogenic 694522 rs782269374 10:93569-93569 10:47629-47629
8 PABPC1L NM_001372179.1(PABPC1L):c.77T>A (p.Met26Lys) SNV Likely pathogenic 812689 20:43538861-43538861 20:44910220-44910220

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

73
# 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

Biological processes related to Oocyte Maturation Defect 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitotic cell cycle GO:0000278 8.96 WEE2 TUBB8
2 oocyte maturation GO:0001556 8.62 TUBB8 PABPC1L

Sources for Oocyte Maturation Defect 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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