OOMD7
MCID: OCY008
MIFTS: 16

Oocyte Maturation Defect 7 (OOMD7)

Categories: Fetal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 7

MalaCards integrated aliases for Oocyte Maturation Defect 7:

Name: Oocyte Maturation Defect 7 56 73 6
Oomd7 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on a report of 8 patients in 4 chinese families (last curated august 2019)


HPO:

31
oocyte maturation defect 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 618550
OMIM Phenotypic Series 56 PS615774
MeSH 43 D007247
MedGen 41 CN262218
SNOMED-CT via HPO 68 263681008 6738008

Summaries for Oocyte Maturation Defect 7

OMIM : 56 Oocyte maturation defect-7 (OOMD7) is characterized by infertility due to oocyte death, which may occur before or after fertilization (Sang et al., 2019). For a discussion of genetic heterogeneity of oocyte maturation defects, see OOMD1 (615774). (618550)

MalaCards based summary : Oocyte Maturation Defect 7, is also known as oomd7. An important gene associated with Oocyte Maturation Defect 7 is PANX1 (Pannexin 1). Related phenotypes are female infertility and increased oocyte death

UniProtKB/Swiss-Prot : 73 Oocyte maturation defect 7: An autosomal dominant infertility disorder due to oocyte degeneration and death, which may occur before or after fertilization.

Related Diseases for Oocyte Maturation Defect 7

Symptoms & Phenotypes for Oocyte Maturation Defect 7

Human phenotypes related to Oocyte Maturation Defect 7:

31
# Description HPO Frequency HPO Source Accession
1 female infertility 31 HP:0008222
2 increased oocyte death 31 HP:0032571

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Female:
primary infertility
oocyte degeneration
oocyte death before and/or after fertilization

Clinical features from OMIM:

618550

Drugs & Therapeutics for Oocyte Maturation Defect 7

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 7

Genetic Tests for Oocyte Maturation Defect 7

Anatomical Context for Oocyte Maturation Defect 7

Publications for Oocyte Maturation Defect 7

Articles related to Oocyte Maturation Defect 7:

# Title Authors PMID Year
1
A pannexin 1 channelopathy causes human oocyte death. 56 6
30918116 2019

Variations for Oocyte Maturation Defect 7

ClinVar genetic disease variations for Oocyte Maturation Defect 7:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PANX1 NM_015368.4(PANX1):c.1174C>T (p.Gln392Ter)SNV Pathogenic 689421 11:93913396-93913396 11:94180230-94180230
2 PANX1 NM_015368.4(PANX1):c.1040G>C (p.Cys347Ser)SNV Pathogenic 689422 11:93913262-93913262 11:94180096-94180096
3 PANX1 NM_015368.4(PANX1):c.1036A>G (p.Lys346Glu)SNV Pathogenic 689423 11:93913258-93913258 11:94180092-94180092
4 PANX1 NM_015368.4(PANX1):c.62_70del (p.Thr21_Pro23del)deletion Pathogenic 689424 11:93862532-93862540 11:94129366-94129374

UniProtKB/Swiss-Prot genetic disease variations for Oocyte Maturation Defect 7:

73
# Symbol AA change Variation ID SNP ID
1 PANX1 p.Lys346Glu VAR_083163
2 PANX1 p.Cys347Ser VAR_083164

Expression for Oocyte Maturation Defect 7

Search GEO for disease gene expression data for Oocyte Maturation Defect 7.

Pathways for Oocyte Maturation Defect 7

GO Terms for Oocyte Maturation Defect 7

Sources for Oocyte Maturation Defect 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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