OOMD8
MCID: OCY009
MIFTS: 14

Oocyte Maturation Defect 8 (OOMD8)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 8

MalaCards integrated aliases for Oocyte Maturation Defect 8:

Name: Oocyte Maturation Defect 8 57 6
Oomd8 57

Characteristics:

OMIM®:

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

Miscellaneous:
based on a report of 4 unrelated chinese women (last curated august 2020)


HPO:

31
oocyte maturation defect 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 619009
OMIM Phenotypic Series 57 PS615774
SNOMED-CT via HPO 68 258211005 6738008

Summaries for Oocyte Maturation Defect 8

OMIM® : 57 Oocyte maturation defect-8 (OOMD8) is characterized by female infertility due to failure of the fertilized ovum to undergo zygotic cleavage (Zheng et al., 2020). For a discussion of genetic heterogeneity of OOMD, see OOMD1 (615774). (619009) (Updated 05-Mar-2021)

MalaCards based summary : Oocyte Maturation Defect 8, is also known as oomd8. An important gene associated with Oocyte Maturation Defect 8 is BTG4 (BTG Anti-Proliferation Factor 4). Related phenotypes are female infertility and zygotic cleavage failure

Related Diseases for Oocyte Maturation Defect 8

Symptoms & Phenotypes for Oocyte Maturation Defect 8

Human phenotypes related to Oocyte Maturation Defect 8:

31
# Description HPO Frequency HPO Source Accession
1 female infertility 31 very rare (1%) HP:0008222
2 zygotic cleavage failure 31 very rare (1%) HP:0033336

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Female:
infertility
zygotic cleavage failure

Clinical features from OMIM®:

619009 (Updated 05-Mar-2021)

Drugs & Therapeutics for Oocyte Maturation Defect 8

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 8

Genetic Tests for Oocyte Maturation Defect 8

Anatomical Context for Oocyte Maturation Defect 8

Publications for Oocyte Maturation Defect 8

Articles related to Oocyte Maturation Defect 8:

# Title Authors PMID Year
1
Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility. 57 6
32502391 2020

Variations for Oocyte Maturation Defect 8

ClinVar genetic disease variations for Oocyte Maturation Defect 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BTG4 NM_017589.4(BTG4):c.166G>A (p.Ala56Thr) SNV Pathogenic 977514 11:111369336-111369336 11:111498611-111498611
2 BTG4 NM_017589.4(BTG4):c.73C>T (p.Gln25Ter) SNV Pathogenic 977515 11:111369429-111369429 11:111498704-111498704
3 BTG4 NM_017589.4(BTG4):c.1A>G (p.Met1Val) SNV Pathogenic 977516 11:111369501-111369501 11:111498776-111498776
4 BTG4 NM_017589.4(BTG4):c.475_478del (p.Ile159fs) Deletion Pathogenic 977517 11:111367968-111367971 11:111497243-111497246

Expression for Oocyte Maturation Defect 8

Search GEO for disease gene expression data for Oocyte Maturation Defect 8.

Pathways for Oocyte Maturation Defect 8

GO Terms for Oocyte Maturation Defect 8

Sources for Oocyte Maturation Defect 8

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....