Oocyte Maturation Defect 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617996

MeSH ⁴⁵ D007247

MedGen ⁴³ C4693865 CN238505

SNOMED-CT via HPO ⁷⁰ 15296000 8619003

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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.

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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

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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

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Drugs & Therapeutics for Oocyte Maturation Defect 5

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

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Genetic Tests for Oocyte Maturation Defect 5

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Anatomical Context for Oocyte Maturation Defect 5

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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 )	Sang Q...Wang L	2018

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Genes for Oocyte Maturation Defect 5

Genes related to Oocyte Maturation Defect 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	WEE2	WEE1 Homolog 2	Protein Coding	1218.28	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ GeneCards inferred via : Disorders Variants (show sections)	29606300
2	WEE2-AS1	WEE2 Antisense RNA 1	RNA Gene	8.44	GeneCards inferred via : Variants (show sections)

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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

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Expression for Oocyte Maturation Defect 5

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

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Pathways for Oocyte Maturation Defect 5

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GO Terms for Oocyte Maturation Defect 5

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Sources for Oocyte Maturation Defect 5

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Oocyte Maturation Defect 5 (OOMD5)

Aliases & Classifications for Oocyte Maturation Defect 5

MalaCards integrated aliases for Oocyte Maturation Defect 5:

Characteristics:

OMIM:

Classifications:

External Ids:

Summaries for Oocyte Maturation Defect 5

Related Diseases for Oocyte Maturation Defect 5

Diseases in the Oocyte Maturation Defect 1 family:

Symptoms & Phenotypes for Oocyte Maturation Defect 5

Human phenotypes related to Oocyte Maturation Defect 5:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Genes for Oocyte Maturation Defect 5

Genes related to Oocyte Maturation Defect 5 (1 elite genes):

Variations for Oocyte Maturation Defect 5

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

ClinVar genetic disease variations for Oocyte Maturation Defect 5:

Expression for Oocyte Maturation Defect 5

Pathways for Oocyte Maturation Defect 5

GO Terms for Oocyte Maturation Defect 5

Sources for Oocyte Maturation Defect 5