OOMD3
MCID: OCY004
MIFTS: 13

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 58 76 6
Oomd3 58 76
Oocyte Maturation Defect, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
carrier males are fertile


Classifications:



External Ids:

OMIM 58 617712
MeSH 45 D007247
SNOMED-CT via HPO 70 15296000 8619003

Summaries for Oocyte Maturation Defect 3

OMIM : 58 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)

MalaCards based summary : Oocyte Maturation Defect 3, is also known as oomd3. An important gene associated with Oocyte Maturation Defect 3 is ZP3 (Zona Pellucida Glycoprotein 3). Related phenotype is infertility.

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Oocyte Maturation Defect 3

Human phenotypes related to Oocyte Maturation Defect 3:

33
# Description HPO Frequency HPO Source Accession
1 infertility 33 HP:0000789

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Female:
infertility
degeneration of oocytes
oocytes lack zona pellucida

Clinical features from OMIM:

617712

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

Anatomical Context for Oocyte Maturation Defect 3

Publications for Oocyte Maturation Defect 3

Variations for Oocyte Maturation Defect 3

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

76
# Symbol AA change Variation ID SNP ID
1 ZP3 p.Ala134Thr VAR_079712

ClinVar genetic disease variations for Oocyte Maturation Defect 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZP3 NM_001110354.1(ZP3): c.400G> A (p.Ala134Thr) single nucleotide variant Pathogenic rs1554625334 GRCh37 Chromosome 7, 76058919: 76058919
2 ZP3 NM_001110354.1(ZP3): c.400G> A (p.Ala134Thr) single nucleotide variant Pathogenic rs1554625334 GRCh38 Chromosome 7, 76429602: 76429602

Expression for Oocyte Maturation Defect 3

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

Pathways for Oocyte Maturation Defect 3

GO Terms for Oocyte Maturation Defect 3

Sources for Oocyte Maturation Defect 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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