OOMD3
MCID: OCY004
MIFTS: 22

Oocyte Maturation Defect 3 (OOMD3)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 3

MalaCards integrated aliases for Oocyte Maturation Defect 3:

Name: Oocyte Maturation Defect 3 57 72 29 6
Oomd3 57 72
Oocyte Maturation Defect, Type 3 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
carrier males are fertile


HPO:

31
oocyte maturation defect 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617712
OMIM Phenotypic Series 57 PS615774
MeSH 44 D007247
SNOMED-CT via HPO 68 15296000 263681008 8619003

Summaries for Oocyte Maturation Defect 3

OMIM® : 57 Oocyte maturation defect-3 is characterized by infertility, caused by absence of the zona pellucida that results in degeneration of oocytes and 'empty follicle syndrome' on in vitro fertilization procedures (Chen et al., 2017). For a discussion of genetic heterogeneity of oocyte maturation defects, see OOMD1 (615774). (617712) (Updated 20-May-2021)

MalaCards based summary : Oocyte Maturation Defect 3, also known as oomd3, is related to female infertility due to zona pellucida defect and infertility. An important gene associated with Oocyte Maturation Defect 3 is ZP3 (Zona Pellucida Glycoprotein 3), and among its related pathways/superpathways is Reproduction. Related phenotype is infertility.

UniProtKB/Swiss-Prot : 72 Oocyte maturation defect 3: An autosomal dominant infertility disorder characterized by abnormal oocytes that lack the zona pellucida, and oocytes degeneration.

Related Diseases for Oocyte Maturation Defect 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 female infertility due to zona pellucida defect 9.6 ZP3 ZP1
2 infertility 9.5 ZP3 ZP1

Symptoms & Phenotypes for Oocyte Maturation Defect 3

Human phenotypes related to Oocyte Maturation Defect 3:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
infertility
degeneration of oocytes
oocytes lack zona pellucida

Clinical features from OMIM®:

617712 (Updated 20-May-2021)

Drugs & Therapeutics for Oocyte Maturation Defect 3

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 3

Genetic Tests for Oocyte Maturation Defect 3

Genetic tests related to Oocyte Maturation Defect 3:

# Genetic test Affiliating Genes
1 Oocyte Maturation Defect 3 29 ZP3

Anatomical Context for Oocyte Maturation Defect 3

Publications for Oocyte Maturation Defect 3

Articles related to Oocyte Maturation Defect 3:

# Title Authors PMID Year
1
Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation. 57 6
30810869 2019
2
A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. 57 6
28886344 2017

Variations for Oocyte Maturation Defect 3

ClinVar genetic disease variations for Oocyte Maturation Defect 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZP3 NM_001110354.2(ZP3):c.400G>A (p.Ala134Thr) SNV Pathogenic 437933 rs1554625334 GRCh37: 7:76058919-76058919
GRCh38: 7:76429602-76429602
2 ZP3 NM_001110354.2(ZP3):c.763C>G (p.Arg255Gly) SNV Pathogenic 689403 rs1375640377 GRCh37: 7:76063404-76063404
GRCh38: 7:76434087-76434087
3 ZP1 NM_207341.3(ZP1):c.769C>T (p.Gln257Ter) SNV Pathogenic 695115 GRCh37: 11:60637891-60637891
GRCh38: 11:60870418-60870418
4 ZP3 NM_001110354.2(ZP3):c.310C>T (p.Gln104Ter) SNV Pathogenic 1032627 GRCh37: 7:76054591-76054591
GRCh38: 7:76425274-76425274

UniProtKB/Swiss-Prot genetic disease variations for Oocyte Maturation Defect 3:

72
# Symbol AA change Variation ID SNP ID
1 ZP3 p.Ala134Thr VAR_079712 rs155462533

Expression for Oocyte Maturation Defect 3

Search GEO for disease gene expression data for Oocyte Maturation Defect 3.

Pathways for Oocyte Maturation Defect 3

Pathways related to Oocyte Maturation Defect 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.51 ZP3 ZP1

GO Terms for Oocyte Maturation Defect 3

Cellular components related to Oocyte Maturation Defect 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 8.96 ZP3 ZP1
2 egg coat GO:0035805 8.62 ZP3 ZP1

Biological processes related to Oocyte Maturation Defect 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 single fertilization GO:0007338 8.96 ZP3 ZP1
2 binding of sperm to zona pellucida GO:0007339 8.62 ZP3 ZP1

Sources for Oocyte Maturation Defect 3

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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