MCID: NNS033
MIFTS: 13

Non-Syndromic Male Infertility Due to Sperm Motility Disorder

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

MalaCards integrated aliases for Non-Syndromic Male Infertility Due to Sperm Motility Disorder:

Name: Non-Syndromic Male Infertility Due to Sperm Motility Disorder 60 6
Non-Syndromic Male Infertility Due Asthenozoospermia 60

Characteristics:

Orphanet epidemiological data:

60
non-syndromic male infertility due to sperm motility disorder
Inheritance: Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 60  
Rare infertility disorders


External Ids:

ICD10 via Orphanet 35 N46
Orphanet 60 ORPHA276234

Summaries for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

MalaCards based summary : Non-Syndromic Male Infertility Due to Sperm Motility Disorder, is also known as non-syndromic male infertility due asthenozoospermia. An important gene associated with Non-Syndromic Male Infertility Due to Sperm Motility Disorder is WDR66 (WD Repeat Domain 66). Related phenotype is reproductive system.

Related Diseases for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

Symptoms & Phenotypes for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

MGI Mouse Phenotypes related to Non-Syndromic Male Infertility Due to Sperm Motility Disorder:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.17 AK7 CATSPER1 CFAP43 CFAP44 CFAP69 DNAH1

Drugs & Therapeutics for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

Search Clinical Trials , NIH Clinical Center for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

Genetic Tests for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

Anatomical Context for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

Publications for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

Variations for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

ClinVar genetic disease variations for Non-Syndromic Male Infertility Due to Sperm Motility Disorder:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR66 NM_144668.5(WDR66): c.331G> T (p.Glu111Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 122359542: 122359542
2 WDR66 NM_144668.5(WDR66): c.331G> T (p.Glu111Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 121921636: 121921636
3 WDR66 NM_144668.5(WDR66): c.123delA (p.Asp42Metfs) deletion Pathogenic GRCh38 Chromosome 12, 121921428: 121921428
4 WDR66 NM_144668.5(WDR66): c.123delA (p.Asp42Metfs) deletion Pathogenic GRCh37 Chromosome 12, 122359334: 122359334

Expression for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

Search GEO for disease gene expression data for Non-Syndromic Male Infertility Due to Sperm Motility Disorder.

Pathways for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

GO Terms for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

Cellular components related to Non-Syndromic Male Infertility Due to Sperm Motility Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.43 CATSPER1 DNAH1 SPAG17
2 cell projection GO:0042995 9.43 CATSPER1 CFAP43 CFAP44 DNAH1 SPAG17 WDR66
3 axoneme GO:0005930 9.33 CFAP43 DNAH1 WDR66
4 motile cilium GO:0031514 9.1 CATSPER1 CFAP43 CFAP44 DNAH1 SPAG17 WDR66

Biological processes related to Non-Syndromic Male Infertility Due to Sperm Motility Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium movement GO:0003341 9.32 DNAH1 WDR66
2 cilium-dependent cell motility GO:0060285 9.26 CFAP44 DNAH1
3 epithelial cilium movement GO:0003351 9.16 DNAH1 SPAG17
4 flagellated sperm motility GO:0030317 9.13 CATSPER1 DNAH1 SLC26A8
5 sperm axoneme assembly GO:0007288 8.8 CFAP43 CFAP44 DNAH1

Sources for Non-Syndromic Male Infertility Due to Sperm Motility Disorder

3 CDC
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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