MCID: OCY003
MIFTS: 32

Oocyte Maturation Defect 1

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Oocyte Maturation Defect 1

MalaCards integrated aliases for Oocyte Maturation Defect 1:

Name: Oocyte Maturation Defect 1 57 75 29 6
Infertility, Female 44 40
Oomd1 57 75
Oomd 57 75
Oocyte Maturation Defect, Type 1 40
Oocyte Maturation Defect 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
oocyte maturation defect 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615774
MeSH 44 D007247
ICD10 33 N97
SNOMED-CT via HPO 69 258211005 15296000 8619003
UMLS 73 C4014291

Summaries for Oocyte Maturation Defect 1

OMIM : 57 The zona pellucida is a glycoprotein matrix that surrounds oocytes and has an average thickness of 17 micrometers. It is vital for the production of oocytes in early development, for fertilization, and for protection of early embryos before implantation. Absence of the zona pellucida in OOMD1 results in sterility (summary by Huang et al., 2014). (615774)

MalaCards based summary : Oocyte Maturation Defect 1, also known as infertility, female, is related to infertility and anovulation. An important gene associated with Oocyte Maturation Defect 1 is ZP1 (Zona Pellucida Glycoprotein 1), and among its related pathways/superpathways are Metabolism of steroid hormones and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include uterus and skin, and related phenotypes are infertility and endocrine/exocrine gland

UniProtKB/Swiss-Prot : 75 Oocyte maturation defect 1: An infertility disorder caused by defective oocyte maturation that results in abnormal eggs lacking a zona pellucida. Affected females have normal menstrual cycles and sex hormone levels, no obstruction in the fallopian tubes or abnormalities of the uterus or adnexa.

Related Diseases for Oocyte Maturation Defect 1

Graphical network of the top 20 diseases related to Oocyte Maturation Defect 1:



Diseases related to Oocyte Maturation Defect 1

Symptoms & Phenotypes for Oocyte Maturation Defect 1

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
infertility
absence of oocyte zona pellucida


Clinical features from OMIM:

615774

Human phenotypes related to Oocyte Maturation Defect 1:

32
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789

MGI Mouse Phenotypes related to Oocyte Maturation Defect 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.35 BMP15 CGA CYP19A1 FST ZP1
2 reproductive system MP:0005389 9.02 BMP15 CGA CYP19A1 FST ZP1

Drugs & Therapeutics for Oocyte Maturation Defect 1

Search Clinical Trials , NIH Clinical Center for Oocyte Maturation Defect 1

Cochrane evidence based reviews: infertility, female

Genetic Tests for Oocyte Maturation Defect 1

Genetic tests related to Oocyte Maturation Defect 1:

# Genetic test Affiliating Genes
1 Oocyte Maturation Defect 1 29 ZP1

Anatomical Context for Oocyte Maturation Defect 1

MalaCards organs/tissues related to Oocyte Maturation Defect 1:

41
Uterus, Skin

Publications for Oocyte Maturation Defect 1

Articles related to Oocyte Maturation Defect 1:

# Title Authors Year
1
Skin tag (acrochordon) on labium majus in an infertile female. ( 22980625 )
2012
2
Male infertility, female fertility and extrapair copulations. ( 19344430 )
2009
3
The association of anovulation and endometriosis in the infertile female. ( 2619687 )
1989
4
Endometriosis and anovulation: a coexisting problem in the infertile female. ( 1275031 )
1976

Variations for Oocyte Maturation Defect 1

ClinVar genetic disease variations for Oocyte Maturation Defect 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZP1 NM_207341.3(ZP1): c.1169_1176delTTTTCCCA (p.Ile390Thrfs) deletion Pathogenic rs587777362 GRCh37 Chromosome 11, 60640691: 60640698
2 ZP1 NM_207341.3(ZP1): c.1169_1176delTTTTCCCA (p.Ile390Thrfs) deletion Pathogenic rs587777362 GRCh38 Chromosome 11, 60873218: 60873225
3 STAG3 NM_001282717.1(STAG3): c.2776C> T (p.Arg926Ter) single nucleotide variant Likely pathogenic rs764841861 GRCh38 Chromosome 7, 100204096: 100204096
4 STAG3 NM_001282717.1(STAG3): c.2776C> T (p.Arg926Ter) single nucleotide variant Likely pathogenic rs764841861 GRCh37 Chromosome 7, 99801719: 99801719
5 TUBB8 NM_177987.2(TUBB8): c.600T> G (p.Phe200Leu) single nucleotide variant Uncertain significance rs148025238 GRCh37 Chromosome 10, 93732: 93732
6 TUBB8 NM_177987.2(TUBB8): c.600T> G (p.Phe200Leu) single nucleotide variant Uncertain significance rs148025238 GRCh38 Chromosome 10, 47792: 47792

Expression for Oocyte Maturation Defect 1

Search GEO for disease gene expression data for Oocyte Maturation Defect 1.

Pathways for Oocyte Maturation Defect 1

GO Terms for Oocyte Maturation Defect 1

Cellular components related to Oocyte Maturation Defect 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 8.92 BMP15 CGA FST ZP1

Sources for Oocyte Maturation Defect 1

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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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