MCID: NNS033
MIFTS: 25

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.77 AK7 ARMC2 CATSPER1 CFAP43 CFAP44 CFAP65
2 reproductive system MP:0005389 9.5 AK7 ARMC2 CATSPER1 CFAP43 CFAP44 CFAP65

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
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 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC26A8 NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln) SNV Pathogenic 50909 rs140210148 6:35980078-35980078 6:36012301-36012301
2 SLC26A8 NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys) SNV Pathogenic 50910 rs142724470 6:35918978-35918978 6:35951201-35951201
3 SLC26A8 NM_052961.4(SLC26A8):c.2860C>T (p.Arg954Cys) SNV Pathogenic 50911 rs398123027 6:35911730-35911730 6:35943953-35943953
4 CATSPER1 NM_053054.4(CATSPER1):c.539dup (p.His182fs) Duplication Pathogenic 4400 rs193929390 11:65793311-65793312 11:66025840-66025841
5 CATSPER1 NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs) Duplication Pathogenic 4401 rs193929391 11:65792902-65792903 11:66025431-66025432
6 CFAP251 NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) SNV Pathogenic 548449 rs199671406 12:122359542-122359542 12:121921636-121921636
7 CFAP251 NM_144668.6(CFAP251):c.123del (p.Asp42fs) Deletion Pathogenic 548450 rs749163856 12:122359331-122359331 12:121921425-121921425
8 STRC NM_153700.2(STRC):c.4219-1G>A SNV Likely pathogenic 505435 rs748854592 15:43896351-43896351 15:43604153-43604153
9 DNAH1 NM_015512.5(DNAH1):c.2951del (p.Lys984fs) Deletion Likely pathogenic 667021 rs753307279 3:52386646-52386646 3:52352630-52352630
10 SEPTIN12 NM_144605.5(SEPTIN12):c.474G>A (p.Val158=) SNV risk factor 37113 rs759991 16:4833970-4833970 16:4783969-4783969
11 SEPTIN12 NM_144605.5(SEPTIN12):c.266C>T (p.Thr89Met) SNV risk factor 37114 rs199696526 16:4836007-4836007 16:4786006-4786006
12 SEPTIN12 NM_144605.5(SEPTIN12):c.589G>A (p.Asp197Asn) SNV risk factor 37115 rs371195126 16:4833691-4833691 16:4783690-4783690
13 CATSPER1 NM_053054.4(CATSPER1):c.695A>T (p.His232Leu) SNV Uncertain significance 305443 rs149769183 11:65793156-65793156 11:66025685-66025685
14 CATSPER1 NM_053054.4(CATSPER1):c.1544-11C>T SNV Uncertain significance 305426 rs567657527 11:65789125-65789125 11:66021654-66021654
15 CATSPER1 NM_053054.4(CATSPER1):c.1748T>G (p.Ile583Ser) SNV Uncertain significance 305423 rs760223439 11:65788600-65788600 11:66021129-66021129
16 CATSPER1 NM_053054.4(CATSPER1):c.292C>T (p.Leu98=) SNV Uncertain significance 305449 rs149064120 11:65793559-65793559 11:66026088-66026088
17 CATSPER1 NM_053054.4(CATSPER1):c.*23G>A SNV Uncertain significance 305415 rs373009756 11:65784338-65784338 11:66016867-66016867
18 CATSPER1 NM_053054.4(CATSPER1):c.813T>C (p.Asp271=) SNV Uncertain significance 305440 rs371489713 11:65793038-65793038 11:66025567-66025567
19 CATSPER1 NM_053054.4(CATSPER1):c.970C>G (p.Gln324Glu) SNV Uncertain significance 305437 rs773285320 11:65792881-65792881 11:66025410-66025410
20 CATSPER1 NM_053054.4(CATSPER1):c.2064+6G>A SNV Uncertain significance 305420 rs143930161 11:65787782-65787782 11:66020311-66020311
21 CATSPER1 NM_053054.4(CATSPER1):c.2109G>A (p.Thr703=) SNV Uncertain significance 305417 rs139275824 11:65787627-65787627 11:66020156-66020156
22 CATSPER1 NM_053054.4(CATSPER1):c.402G>A (p.Gly134=) SNV Uncertain significance 305446 rs370953416 11:65793449-65793449 11:66025978-66025978
23 CATSPER1 NM_053054.4(CATSPER1):c.1069C>T (p.Arg357Trp) SNV Uncertain significance 305435 rs764233008 11:65792782-65792782 11:66025311-66025311
24 CATSPER1 NM_053054.4(CATSPER1):c.1384G>A (p.Val462Ile) SNV Uncertain significance 305432 rs768194764 11:65790365-65790365 11:66022894-66022894
25 CATSPER1 NM_053054.4(CATSPER1):c.688C>T (p.Arg230Cys) SNV Uncertain significance 305444 rs113202862 11:65793163-65793163 11:66025692-66025692
26 CATSPER1 NM_053054.4(CATSPER1):c.761G>T (p.Gly254Val) SNV Uncertain significance 305441 rs199940038 11:65793090-65793090 11:66025619-66025619
27 CATSPER1 NM_053054.4(CATSPER1):c.947G>A (p.Gly316Asp) SNV Uncertain significance 305438 rs148686517 11:65792904-65792904 11:66025433-66025433
28 CATSPER1 NM_053054.4(CATSPER1):c.1544-6C>T SNV Uncertain significance 305424 rs147398525 11:65789120-65789120 11:66021649-66021649
29 CATSPER1 NM_053054.4(CATSPER1):c.1542G>A (p.Leu514=) SNV Uncertain significance 305427 rs886048520 11:65789238-65789238 11:66021767-66021767
30 CATSPER1 NM_053054.4(CATSPER1):c.144C>T (p.His48=) SNV Uncertain significance 305450 rs112725798 11:65793707-65793707 11:66026236-66026236
31 CATSPER1 NM_053054.4(CATSPER1):c.2126-13T>C SNV Uncertain significance 305416 rs369959435 11:65786386-65786386 11:66018915-66018915
32 CATSPER1 NM_053054.4(CATSPER1):c.1544-10G>A SNV Uncertain significance 305425 rs764182570 11:65789124-65789124 11:66021653-66021653
33 CATSPER1 NM_053054.4(CATSPER1):c.1884G>A (p.Thr628=) SNV Uncertain significance 305422 rs370158610 11:65788325-65788325 11:66020854-66020854
34 CATSPER1 NM_053054.4(CATSPER1):c.333C>T (p.Tyr111=) SNV Uncertain significance 305448 rs575875557 11:65793518-65793518 11:66026047-66026047
35 CATSPER1 NM_053054.4(CATSPER1):c.*96G>A SNV Uncertain significance 305414 rs1783566 11:65784265-65784265 11:66016794-66016794
36 CATSPER1 NM_053054.4(CATSPER1):c.1195G>A (p.Gly399Arg) SNV Uncertain significance 305434 rs886048522 11:65792656-65792656 11:66025185-66025185
37 CATSPER1 NM_053054.4(CATSPER1):c.1444G>A (p.Ala482Thr) SNV Uncertain significance 305431 rs886048521 11:65789336-65789336 11:66021865-66021865
38 CATSPER1 NM_053054.4(CATSPER1):c.55G>A (p.Ala19Thr) SNV Uncertain significance 305451 rs775284326 11:65793796-65793796 11:66026325-66026325
39 CATSPER1 NM_053054.4(CATSPER1):c.1514C>T (p.Ser505Leu) SNV Uncertain significance 305428 rs74484098 11:65789266-65789266 11:66021795-66021795
40 CATSPER1 NM_053054.4(CATSPER1):c.853_854CA[3] (p.Gln287fs) Microsatellite Uncertain significance 561180 rs1565074167 11:65792991-65792992 11:66025520-66025521
41 CATSPER1 NM_053054.4(CATSPER1):c.1457T>A (p.Ile486Lys) SNV Uncertain significance 877855 11:65789323-65789323 11:66021852-66021852
42 CATSPER1 NM_053054.4(CATSPER1):c.1270T>C (p.Trp424Arg) SNV Uncertain significance 877856 11:65790479-65790479 11:66023008-66023008
43 CATSPER1 NM_053054.4(CATSPER1):c.310G>A (p.Ala104Thr) SNV Uncertain significance 877899 11:65793541-65793541 11:66026070-66026070
44 CATSPER1 NM_053054.4(CATSPER1):c.261C>T (p.His87=) SNV Uncertain significance 877900 11:65793590-65793590 11:66026119-66026119
45 CATSPER1 NM_053054.4(CATSPER1):c.216C>T (p.Ser72=) SNV Uncertain significance 877901 11:65793635-65793635 11:66026164-66026164
46 CATSPER1 NM_053054.4(CATSPER1):c.148G>A (p.Val50Met) SNV Uncertain significance 877902 11:65793703-65793703 11:66026232-66026232
47 CATSPER1 NM_053054.4(CATSPER1):c.145G>A (p.Gly49Ser) SNV Uncertain significance 877903 11:65793706-65793706 11:66026235-66026235
48 CATSPER1 NM_053054.4(CATSPER1):c.129C>T (p.Tyr43=) SNV Uncertain significance 877904 11:65793722-65793722 11:66026251-66026251
49 CATSPER1 NM_053054.4(CATSPER1):c.1077G>A (p.Ser359=) SNV Uncertain significance 878017 11:65792774-65792774 11:66025303-66025303
50 CATSPER1 NM_053054.4(CATSPER1):c.996G>C (p.Arg332=) SNV Uncertain significance 711064 rs114764419 11:65792855-65792855 11:66025384-66025384

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.29 TTC29 SPEF2 SPAG17 SEPTIN12 DNAH17 DNAH1
2 cytoskeleton GO:0005856 10.06 TTC29 SPAG17 SEPTIN12 DNAH17 DNAH1 CFAP70
3 motile cilium GO:0031514 10 TTC29 SPEF2 SPAG17 SEPTIN12 DNAH17 DNAH1
4 cell projection GO:0042995 9.83 TTC29 STRC SPEF2 SPAG17 SEPTIN12 DNAH17
5 sperm flagellum GO:0036126 9.8 TTC29 SPEF2 DNAH17 DNAH1 CFAP70 CFAP65
6 axoneme GO:0005930 9.77 DNAH17 DNAH1 CFAP70 CFAP43 CFAP251
7 sperm midpiece GO:0097225 9.62 SPEF2 FSIP2 CFAP69 CFAP65
8 cilium GO:0005929 9.53 TTC29 TTC21A STRC SPEF2 SPAG17 SEPTIN12
9 dynein complex GO:0030286 9.49 DNAH17 DNAH1
10 axonemal dynein complex GO:0005858 9.46 DNAH17 DNAH1
11 outer dynein arm GO:0036157 9.43 DNAH17 CFAP70

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.91 TTC21A SPEF2 SLC26A8 SEPTIN12 CFAP69 CATSPER1
2 spermatogenesis GO:0007283 9.8 TTC21A SPEF2 SLC26A8 SEPTIN12 CFAP69 CATSPER1
3 cell projection organization GO:0030030 9.71 SPAG17 CFAP65 CFAP43 AK7
4 cilium assembly GO:0060271 9.67 CFAP70 CFAP44 CFAP43
5 sperm axoneme assembly GO:0007288 9.56 SPEF2 FSIP2 DNAH1 CFAP69 CFAP65 CFAP44
6 cilium movement GO:0003341 9.55 TTC29 DNAH17 DNAH1 CFAP70 CFAP251
7 cilium-dependent cell motility GO:0060285 9.5 DNAH17 DNAH1 CFAP44
8 protein localization to cilium GO:0061512 9.48 TTC21A FSIP2
9 cilium organization GO:0044782 9.46 TTC29 ARMC2
10 epithelial cilium movement GO:0003351 9.43 SPEF2 SPAG17
11 flagellated sperm motility GO:0030317 9.32 TTC21A SLC26A8 FSIP2 DNAH1 CFAP69 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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