MCID: OCY004
MIFTS: 11

Oocyte Maturation Defect 3

Categories: 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 75 6
Oomd3 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
carrier males are fertile


Classifications:



External Ids:

OMIM 57 617712
MeSH 44 D007247

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)

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).

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Oocyte Maturation Defect 3

Symptoms via clinical synopsis from OMIM:

57
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:

75
# 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 GRCh37 Chromosome 7, 76058919: 76058919
2 ZP3 NM_001110354.1(ZP3): c.400G> A (p.Ala134Thr) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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