MCID: FML266
MIFTS: 14

Female Infertility Due to Zona Pellucida Defect

Categories: Endocrine diseases, Rare diseases, Reproductive 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 58

Characteristics:

Orphanet epidemiological data:

58
female infertility due to zona pellucida defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare infertility disorders


External Ids:

ICD10 via Orphanet 33 N97.8
Orphanet 58 ORPHA404466

Summaries for Female Infertility Due to Zona Pellucida Defect

MalaCards based summary : Female Infertility Due to Zona Pellucida Defect is related to premature ovarian failure 1 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

Symptoms & Phenotypes for Female Infertility Due to Zona Pellucida Defect

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

45
# 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 ZP1 ZP2 ZP3

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

Articles related to Female Infertility Due to Zona Pellucida Defect:

# Title Authors PMID Year
1
Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation. 6
30810869 2019
2
Mutant ZP1 in familial infertility. 6
24670168 2014

Variations for Female Infertility Due to Zona Pellucida Defect

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 ZP3 ZP2 ZP1
2 10.46 ZP3 ZP2

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 9.33 ZP3 ZP2 ZP1
2 collagen-containing extracellular matrix GO:0062023 9.13 ZP3 ZP2 ZP1
3 egg coat GO:0035805 8.8 ZP3 ZP2 ZP1

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 ZP3 ZP2 ZP1
2 binding of sperm to zona pellucida GO:0007339 8.8 ZP3 ZP2 ZP1

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 8.96 ZP3 ZP2
2 structural constituent of egg coat GO:0035804 8.62 ZP3 ZP2

Sources for Female Infertility Due to Zona Pellucida Defect

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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