MCID: NNS033
MIFTS: 21

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 58 6
Non-Syndromic Male Infertility Due Asthenozoospermia 58

Characteristics:

Orphanet epidemiological data:

58
non-syndromic male infertility due to sperm motility disorder
Inheritance: Autosomal recessive; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare infertility disorders


External Ids:

ICD10 via Orphanet 33 N46
Orphanet 58 ORPHA276234

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

MalaCards based summary : Non-Syndromic Male Infertility Due to Sperm Motility Disorder, also known as non-syndromic male infertility due asthenozoospermia, is related to male infertility due to sperm motility disorder and spermatogenic failure 18. An important gene associated with Non-Syndromic Male Infertility Due to Sperm Motility Disorder is CFAP251 (Cilia And Flagella Associated Protein 251). Related phenotypes are cellular and reproductive system

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

Graphical network of the top 20 diseases related to Non-Syndromic Male Infertility Due to Sperm Motility Disorder:



Diseases related to 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 AK7 ARMC2 CATSPER1 CFAP43 CFAP44 CFAP69
2 reproductive system MP:0005389 9.47 AK7 ARMC2 CATSPER1 CFAP43 CFAP44 CFAP69

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

Articles related to Non-Syndromic Male Infertility Due to Sperm Motility Disorder:

# Title Authors PMID Year
1
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. 6
23582645 2013
2
SEPT12 mutations cause male infertility with defective sperm annulus. 6
22275165 2012
3
SEPTIN12 genetic variants confer susceptibility to teratozoospermia. 6
22479503 2012
4
CATSPER-Related Male Infertility 6
20301780 2009
5
Human male infertility caused by mutations in the CATSPER1 channel protein. 6
19344877 2009

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CFAP251 NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter)SNV Pathogenic 548449 rs199671406 12:122359542-122359542 12:121921636-121921636
2 CFAP251 NM_144668.6(CFAP251):c.123del (p.Asp42fs)deletion Pathogenic 548450 rs749163856 12:122359331-122359331 12:121921425-121921425
3 DNAH1 NM_015512.5(DNAH1):c.2951del (p.Lys984fs)deletion Likely pathogenic 667021 3:52386646-52386646 3:52352630-52352630

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 cytoskeleton GO:0005856 9.95 SPAG17 SEPTIN12 DNAH17 DNAH1 CFAP44 CFAP43
2 cell projection GO:0042995 9.93 SPAG17 SEPTIN12 DNAH17 DNAH1 CFAP70 CFAP69
3 axoneme GO:0005930 9.77 DNAH17 DNAH1 CFAP70 CFAP43 CFAP251
4 motile cilium GO:0031514 9.73 SPAG17 SEPTIN12 DNAH17 DNAH1 CFAP70 CFAP69
5 sperm flagellum GO:0036126 9.65 DNAH17 DNAH1 CFAP70 CFAP65 CFAP251
6 sperm midpiece GO:0097225 9.62 SPEF2 FSIP2 CFAP69 CFAP65
7 dynein complex GO:0030286 9.48 DNAH17 DNAH1
8 outer dynein arm GO:0036157 9.46 DNAH17 CFAP70
9 cilium GO:0005929 9.44 TTC21A SPAG17 SEPTIN12 DNAH17 DNAH1 CFAP70
10 axonemal dynein complex GO:0005858 9.43 DNAH17 DNAH1

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 cell differentiation GO:0030154 9.95 TTC21A SPEF2 SLC26A8 SEPTIN12 CFAP69 CATSPER1
2 spermatogenesis GO:0007283 9.8 TTC21A SPEF2 SLC26A8 SEPTIN12 CFAP69 CATSPER1
3 cilium assembly GO:0060271 9.65 CFAP70 CFAP44 CFAP43
4 cell projection organization GO:0030030 9.63 SPAG17 CFAP43 AK7
5 epithelial cilium movement GO:0003351 9.54 SPEF2 SPAG17 DNAH1
6 cilium-dependent cell motility GO:0060285 9.5 DNAH17 DNAH1 CFAP44
7 sperm axoneme assembly GO:0007288 9.5 SPEF2 FSIP2 DNAH1 CFAP65 CFAP44 CFAP43
8 cilium movement GO:0003341 9.46 DNAH17 DNAH1 CFAP70 CFAP251
9 protein localization to cilium GO:0061512 9.43 TTC21A FSIP2
10 flagellated sperm motility GO:0030317 9.28 TTC21A SLC26A8 SEPTIN12 FSIP2 DNAH1 CFAP65

Molecular functions 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 dynein intermediate chain binding GO:0045505 9.16 DNAH17 DNAH1
2 dynein light intermediate chain binding GO:0051959 8.96 DNAH17 DNAH1
3 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.62 DNAH17 DNAH1

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

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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