OOMD6
MCID: OCY007
MIFTS: 18

Oocyte Maturation Defect 6 (OOMD6)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 6

MalaCards integrated aliases for Oocyte Maturation Defect 6:

Name: Oocyte Maturation Defect 6 57 72 29 6
Oomd6 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
homozygous males are fertile


HPO:

31
oocyte maturation defect 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618353
OMIM Phenotypic Series 57 PS615774
MeSH 44 D007247
SNOMED-CT via HPO 68 258211005 6738008

Summaries for Oocyte Maturation Defect 6

OMIM® : 57 Oocyte maturation defect-6 (OOMD6) is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida (ZP) in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients (Dai et al., 2019). For a discussion of genetic heterogeneity of OOMD, see OOMD1 (615774). (618353) (Updated 05-Apr-2021)

MalaCards based summary : Oocyte Maturation Defect 6, is also known as oomd6. An important gene associated with Oocyte Maturation Defect 6 is ZP2 (Zona Pellucida Glycoprotein 2). Related phenotypes are female infertility and thin zona pellucida

UniProtKB/Swiss-Prot : 72 Oocyte maturation defect 6: An autosomal recessive infertility disorder characterized by oocyte fertilization failure, due to defective sperm-binding to an abnormally thin zona pellucida in patient oocytes.

Related Diseases for Oocyte Maturation Defect 6

Symptoms & Phenotypes for Oocyte Maturation Defect 6

Human phenotypes related to Oocyte Maturation Defect 6:

31
# Description HPO Frequency HPO Source Accession
1 female infertility 31 HP:0008222
2 thin zona pellucida 31 HP:0020157

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
primary infertility
degeneration of oocytes
fertilization failure
oocytes have thin or absent zona pellucida
ineffective sperm binding to defective zona pellucida

Clinical features from OMIM®:

618353 (Updated 05-Apr-2021)

Drugs & Therapeutics for Oocyte Maturation Defect 6

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 6

Genetic Tests for Oocyte Maturation Defect 6

Genetic tests related to Oocyte Maturation Defect 6:

# Genetic test Affiliating Genes
1 Oocyte Maturation Defect 6 29 ZP2

Anatomical Context for Oocyte Maturation Defect 6

Publications for Oocyte Maturation Defect 6

Articles related to Oocyte Maturation Defect 6:

# Title Authors PMID Year
1
Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation. 6 57
30810869 2019
2
ZP2 pathogenic variants cause in vitro fertilization failure and female infertility. 57 6
29895852 2019
3
Additive-effect pattern of both ZP2 and ZP3 in human and mouse. 57
29094202 2017
4
ZP2 heterozygous mutation in an infertile woman. 57
28971300 2017
5
Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility. 57
28646452 2017

Variations for Oocyte Maturation Defect 6

ClinVar genetic disease variations for Oocyte Maturation Defect 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZP2 NM_003460.2(ZP2):c.1695-2A>G SNV Pathogenic 619596 rs1156454797 GRCh37: 16:21211201-21211201
GRCh38: 16:21199880-21199880
2 ZP2 NM_003460.2(ZP2):c.1691_1694dup (p.Cys566fs) Duplication Pathogenic 619597 rs1567212569 GRCh37: 16:21212689-21212690
GRCh38: 16:21201368-21201369
3 ZP2 NM_003460.2(ZP2):c.1115G>C (p.Cys372Ser) SNV Pathogenic 689402 rs755714246 GRCh37: 16:21213597-21213597
GRCh38: 16:21202276-21202276

Expression for Oocyte Maturation Defect 6

Search GEO for disease gene expression data for Oocyte Maturation Defect 6.

Pathways for Oocyte Maturation Defect 6

GO Terms for Oocyte Maturation Defect 6

Sources for Oocyte Maturation Defect 6

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