MCID: FML266
MIFTS: 13

Female Infertility Due to Zona Pellucida Defect

Categories: Reproductive diseases, Rare diseases

Aliases & Classifications for Female Infertility Due to Zona Pellucida Defect

MalaCards integrated aliases for Female Infertility Due to Zona Pellucida Defect:

Name: Female Infertility Due to Zona Pellucida Defect 59

Characteristics:

Orphanet epidemiological data:

59
female infertility due to zona pellucida defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 59  
Rare infertility disorders


External Ids:

Orphanet 59 ORPHA404466
ICD10 via Orphanet 34 N97.8

Summaries for Female Infertility Due to Zona Pellucida Defect

MalaCards based summary : Female Infertility Due to Zona Pellucida Defect is related to ovarian disease and infertility. An important gene associated with Female Infertility Due to Zona Pellucida Defect is ZP1 (Zona Pellucida Glycoprotein 1), and among its related pathways/superpathways are Fertilization and Ovarian Infertility Genes. Related phenotypes are endocrine/exocrine gland and reproductive system

Related Diseases for Female Infertility Due to Zona Pellucida Defect

Diseases in the Female Infertility Due to Zona Pellucida Defect family:

Female Infertility Due to Oocyte Meiotic Arrest

Diseases related to Female Infertility Due to Zona Pellucida Defect via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ovarian disease 8.9 ZP1 ZP3
2 infertility 8.5 ZP1 ZP2 ZP3

Symptoms & Phenotypes for Female Infertility Due to Zona Pellucida Defect

MGI Mouse Phenotypes related to Female Infertility Due to Zona Pellucida Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.13 ZP1 ZP2 ZP3
2 reproductive system MP:0005389 8.8 ZP2 ZP3 ZP1

Drugs & Therapeutics for Female Infertility Due to Zona Pellucida Defect

Search Clinical Trials , NIH Clinical Center for Female Infertility Due to Zona Pellucida Defect

Genetic Tests for Female Infertility Due to Zona Pellucida Defect

Anatomical Context for Female Infertility Due to Zona Pellucida Defect

Publications for Female Infertility Due to Zona Pellucida Defect

Variations for Female Infertility Due to Zona Pellucida Defect

ClinVar genetic disease variations for Female Infertility Due to Zona Pellucida Defect:

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

Expression for Female Infertility Due to Zona Pellucida Defect

Search GEO for disease gene expression data for Female Infertility Due to Zona Pellucida Defect.

Pathways for Female Infertility Due to Zona Pellucida Defect

Pathways related to Female Infertility Due to Zona Pellucida Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.69 ZP1 ZP2 ZP3
2 10.46 ZP2 ZP3

GO Terms for Female Infertility Due to Zona Pellucida Defect

Cellular components related to Female Infertility Due to Zona Pellucida Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.13 ZP1 ZP2 ZP3
2 extracellular matrix GO:0031012 8.8 ZP1 ZP2 ZP3

Biological processes related to Female Infertility Due to Zona Pellucida Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 single fertilization GO:0007338 9.13 ZP1 ZP2 ZP3
2 binding of sperm to zona pellucida GO:0007339 8.8 ZP1 ZP2 ZP3

Molecular functions related to Female Infertility Due to Zona Pellucida Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 acrosin binding GO:0032190 8.62 ZP2 ZP3

Sources for Female Infertility Due to Zona Pellucida Defect

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
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37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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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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