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 ⁵⁶ ⁷³ ²⁹ ⁶

Oomd5 ⁵⁶ ⁷³

Characteristics:

OMIM:

⁵⁶

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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 617996

OMIM Phenotypic Series ⁵⁶ PS615774

MeSH ⁴³ D007247

MedGen ⁴¹ C4693865 CN238505

SNOMED-CT via HPO ⁶⁸ 15296000 258211005 8619003

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Summaries for Oocyte Maturation Defect 5

OMIM : ⁵⁶ 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 (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.

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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	Oocyte Maturation Defect 7

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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:

⁵⁶

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

Genetic tests related to Oocyte Maturation Defect 5:

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

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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	PMID	Year
1	Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. ⁵⁶ ⁶	Sang Q...Wang L	29606300	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	WEE2 Oocyte Meiosis Inhibiting Kinase	Protein Coding	1318.11	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	29606300
2	WEE2-AS1	WEE2 Antisense RNA 1	RNA Gene	8.35	GeneCards inferred via : Variants (show sections)

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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	NM_001105558.1(WEE2):c.700G>C (p.Asp234His)	SNV	Pathogenic	545469	rs1554415096	7:141418986-141418986	7:141719186-141719186
2	WEE2	NM_001105558.1(WEE2):c.1477dup (p.Thr493fs)	duplication	Pathogenic	545470	rs1554416415	7:141427184-141427184	7:141727384-141727384
3	WEE2	NM_001105558.1(WEE2):c.220_223AAAG[1] (p.Glu75fs)	short repeat	Pathogenic	545471	rs768323979	7:141408778-141408781	7:141708978-141708981

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

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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:

HPO:

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

Genetic tests related to 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

ClinVar genetic disease variations for Oocyte Maturation Defect 5:

UniProtKB/Swiss-Prot 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