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

Sources

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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 617996

OMIM Phenotypic Series ⁵⁷ PS615774

MeSH ⁴⁴ D007247

MedGen ⁴¹ C4693865 CN238505

SNOMED-CT via HPO ⁶⁸ 15296000 258211005 8619003

Sources

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.

Sources

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

Sources

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)

Sources

Drugs & Therapeutics for Oocyte Maturation Defect 5

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

Sources

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

Sources

Anatomical Context for Oocyte Maturation Defect 5

Sources

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	Zhang Z...Sang Q	30628060	2019
2	Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. ⁶ ⁵⁷	Sang Q...Wang L	29606300	2018

Sources

Genes for Oocyte Maturation Defect 5

Genes related to Oocyte Maturation Defect 5 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	WEE2	WEE2 Oocyte Meiosis Inhibiting Kinase	Protein Coding	917.98	Molecular basis known ⁵⁷ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)
2	WEE2-AS1	WEE2 Antisense RNA 1	RNA Gene	408.46	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	29606300
3	PABPC1L	Poly(A) Binding Protein Cytoplasmic 1 Like	Protein Coding	25	Likely pathogenic ⁶
4	TUBB8	Tubulin Beta 8 Class VIII	Protein Coding	25	Likely pathogenic ⁶

Sources

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

Sources

Expression for Oocyte Maturation Defect 5

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

Sources

Pathways for Oocyte Maturation Defect 5

Sources

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

Sources for Oocyte Maturation Defect 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

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:

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

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 (2 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

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

Sources for Oocyte Maturation Defect 5