OOMD9
MCID: OCY010
MIFTS: 14

Oocyte Maturation Defect 9 (OOMD9)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 9

MalaCards integrated aliases for Oocyte Maturation Defect 9:

Name: Oocyte Maturation Defect 9 57 6
Oomd9 57

Characteristics:

OMIM®:

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


HPO:

31
oocyte maturation defect 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 619011
OMIM Phenotypic Series 57 PS615774
SNOMED-CT via HPO 68 258211005 6738008

Summaries for Oocyte Maturation Defect 9

OMIM® : 57 Oocyte maturation defect-9 (OOMD9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed (Zhang et al., 2020). For a discussion of genetic heterogeneity of OOMD, see OOMD1 (615774). (619011) (Updated 05-Mar-2021)

MalaCards based summary : Oocyte Maturation Defect 9, is also known as oomd9. An important gene associated with Oocyte Maturation Defect 9 is TRIP13 (Thyroid Hormone Receptor Interactor 13). Related phenotypes are female infertility and oocyte arrest at metaphase i

Related Diseases for Oocyte Maturation Defect 9

Symptoms & Phenotypes for Oocyte Maturation Defect 9

Human phenotypes related to Oocyte Maturation Defect 9:

31
# Description HPO Frequency HPO Source Accession
1 female infertility 31 very rare (1%) HP:0008222
2 oocyte arrest at metaphase i 31 very rare (1%) HP:0031516
3 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
oocyte meiotic arrest at metaphase i
abnormal zygotic cleavage (in some patients)

Clinical features from OMIM®:

619011 (Updated 05-Mar-2021)

Drugs & Therapeutics for Oocyte Maturation Defect 9

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 9

Genetic Tests for Oocyte Maturation Defect 9

Anatomical Context for Oocyte Maturation Defect 9

Publications for Oocyte Maturation Defect 9

Articles related to Oocyte Maturation Defect 9:

# Title Authors PMID Year
1
Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest. 57 6
32473092 2020

Variations for Oocyte Maturation Defect 9

ClinVar genetic disease variations for Oocyte Maturation Defect 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIP13 NM_004237.4(TRIP13):c.77A>G (p.His26Arg) SNV Pathogenic 977641 5:893190-893190 5:893075-893075
2 TRIP13 NM_004237.4(TRIP13):c.518G>A (p.Arg173Gln) SNV Pathogenic 977642 5:901529-901529 5:901414-901414
3 TRIP13 NM_004237.4(TRIP13):c.907G>A (p.Glu303Lys) SNV Pathogenic 977643 5:911998-911998 5:911883-911883
4 TRIP13 NM_004237.4(TRIP13):c.592A>G (p.Ile198Val) SNV Pathogenic 977644 5:904319-904319 5:904204-904204
5 TRIP13 NM_004237.4(TRIP13):c.739G>A (p.Val247Met) SNV Pathogenic 977645 5:908169-908169 5:908054-908054

Expression for Oocyte Maturation Defect 9

Search GEO for disease gene expression data for Oocyte Maturation Defect 9.

Pathways for Oocyte Maturation Defect 9

GO Terms for Oocyte Maturation Defect 9

Sources for Oocyte Maturation Defect 9

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
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