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 male infertility with teratozoospermia due to single gene mutation. An important gene associated with Non-Syndromic Male Infertility Due to Sperm Motility Disorder is SEPTIN12 (Septin 12). 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 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A8 NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln) SNV Pathogenic 50909 rs140210148 GRCh37: 6:35980078-35980078
GRCh38: 6:36012301-36012301
2 SLC26A8 NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys) SNV Pathogenic 50910 rs142724470 GRCh37: 6:35918978-35918978
GRCh38: 6:35951201-35951201
3 SLC26A8 NM_052961.4(SLC26A8):c.2860C>T (p.Arg954Cys) SNV Pathogenic 50911 rs398123027 GRCh37: 6:35911730-35911730
GRCh38: 6:35943953-35943953
4 CATSPER1 NM_053054.4(CATSPER1):c.539dup (p.His182fs) Duplication Pathogenic 4400 rs193929390 GRCh37: 11:65793311-65793312
GRCh38: 11:66025840-66025841
5 CATSPER1 NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs) Duplication Pathogenic 4401 rs193929391 GRCh37: 11:65792902-65792903
GRCh38: 11:66025431-66025432
6 CFAP251 NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) SNV Pathogenic 548449 rs199671406 GRCh37: 12:122359542-122359542
GRCh38: 12:121921636-121921636
7 CFAP251 NM_144668.6(CFAP251):c.123del (p.Asp42fs) Deletion Pathogenic 548450 rs749163856 GRCh37: 12:122359331-122359331
GRCh38: 12:121921425-121921425
8 SLC26A8 NM_052961.4(SLC26A8):c.1444C>T (p.Gln482Ter) SNV Pathogenic 998271 GRCh37: 6:35930320-35930320
GRCh38: 6:35962543-35962543
9 SEPTIN12 NM_144605.5(SEPTIN12):c.610C>T (p.Arg204Ter) SNV Pathogenic 1032445 GRCh37: 16:4833670-4833670
GRCh38: 16:4783669-4783669
10 CATSPER1 NM_053054.4(CATSPER1):c.2033del (p.Leu678fs) Deletion Pathogenic 1033025 GRCh37: 11:65787819-65787819
GRCh38: 11:66020348-66020348
11 STRC NM_153700.2(STRC):c.4219-1G>A SNV Likely pathogenic 505435 rs748854592 GRCh37: 15:43896351-43896351
GRCh38: 15:43604153-43604153
12 DNAH1 NM_015512.5(DNAH1):c.2951del (p.Lys984fs) Deletion Likely pathogenic 667021 rs753307279 GRCh37: 3:52386646-52386646
GRCh38: 3:52352630-52352630
13 SEPTIN12 NM_144605.5(SEPTIN12):c.474G>A (p.Val158=) SNV risk factor 37113 rs759991 GRCh37: 16:4833970-4833970
GRCh38: 16:4783969-4783969
14 SEPTIN12 NM_144605.5(SEPTIN12):c.266C>T (p.Thr89Met) SNV risk factor 37114 rs199696526 GRCh37: 16:4836007-4836007
GRCh38: 16:4786006-4786006
15 SEPTIN12 NM_144605.5(SEPTIN12):c.589G>A (p.Asp197Asn) SNV risk factor 37115 rs371195126 GRCh37: 16:4833691-4833691
GRCh38: 16:4783690-4783690
16 CATSPER1 NM_053054.4(CATSPER1):c.695A>T (p.His232Leu) SNV Uncertain significance 305443 rs149769183 GRCh37: 11:65793156-65793156
GRCh38: 11:66025685-66025685
17 CATSPER1 NM_053054.4(CATSPER1):c.1544-11C>T SNV Uncertain significance 305426 rs567657527 GRCh37: 11:65789125-65789125
GRCh38: 11:66021654-66021654
18 CATSPER1 NM_053054.4(CATSPER1):c.1748T>G (p.Ile583Ser) SNV Uncertain significance 305423 rs760223439 GRCh37: 11:65788600-65788600
GRCh38: 11:66021129-66021129
19 CATSPER1 NM_053054.4(CATSPER1):c.292C>T (p.Leu98=) SNV Uncertain significance 305449 rs149064120 GRCh37: 11:65793559-65793559
GRCh38: 11:66026088-66026088
20 CATSPER1 NM_053054.4(CATSPER1):c.*23G>A SNV Uncertain significance 305415 rs373009756 GRCh37: 11:65784338-65784338
GRCh38: 11:66016867-66016867
21 CATSPER1 NM_053054.4(CATSPER1):c.813T>C (p.Asp271=) SNV Uncertain significance 305440 rs371489713 GRCh37: 11:65793038-65793038
GRCh38: 11:66025567-66025567
22 CATSPER1 NM_053054.4(CATSPER1):c.970C>G (p.Gln324Glu) SNV Uncertain significance 305437 rs773285320 GRCh37: 11:65792881-65792881
GRCh38: 11:66025410-66025410
23 CATSPER1 NM_053054.4(CATSPER1):c.2064+6G>A SNV Uncertain significance 305420 rs143930161 GRCh37: 11:65787782-65787782
GRCh38: 11:66020311-66020311
24 CATSPER1 NM_053054.4(CATSPER1):c.2109G>A (p.Thr703=) SNV Uncertain significance 305417 rs139275824 GRCh37: 11:65787627-65787627
GRCh38: 11:66020156-66020156
25 CATSPER1 NM_053054.4(CATSPER1):c.402G>A (p.Gly134=) SNV Uncertain significance 305446 rs370953416 GRCh37: 11:65793449-65793449
GRCh38: 11:66025978-66025978
26 CATSPER1 NM_053054.4(CATSPER1):c.1069C>T (p.Arg357Trp) SNV Uncertain significance 305435 rs764233008 GRCh37: 11:65792782-65792782
GRCh38: 11:66025311-66025311
27 CATSPER1 NM_053054.4(CATSPER1):c.1384G>A (p.Val462Ile) SNV Uncertain significance 305432 rs768194764 GRCh37: 11:65790365-65790365
GRCh38: 11:66022894-66022894
28 CATSPER1 NM_053054.4(CATSPER1):c.688C>T (p.Arg230Cys) SNV Uncertain significance 305444 rs113202862 GRCh37: 11:65793163-65793163
GRCh38: 11:66025692-66025692
29 CATSPER1 NM_053054.4(CATSPER1):c.761G>T (p.Gly254Val) SNV Uncertain significance 305441 rs199940038 GRCh37: 11:65793090-65793090
GRCh38: 11:66025619-66025619
30 CATSPER1 NM_053054.4(CATSPER1):c.947G>A (p.Gly316Asp) SNV Uncertain significance 305438 rs148686517 GRCh37: 11:65792904-65792904
GRCh38: 11:66025433-66025433
31 CATSPER1 NM_053054.4(CATSPER1):c.1544-6C>T SNV Uncertain significance 305424 rs147398525 GRCh37: 11:65789120-65789120
GRCh38: 11:66021649-66021649
32 CATSPER1 NM_053054.4(CATSPER1):c.1542G>A (p.Leu514=) SNV Uncertain significance 305427 rs886048520 GRCh37: 11:65789238-65789238
GRCh38: 11:66021767-66021767
33 CATSPER1 NM_053054.4(CATSPER1):c.144C>T (p.His48=) SNV Uncertain significance 305450 rs112725798 GRCh37: 11:65793707-65793707
GRCh38: 11:66026236-66026236
34 CATSPER1 NM_053054.4(CATSPER1):c.2126-13T>C SNV Uncertain significance 305416 rs369959435 GRCh37: 11:65786386-65786386
GRCh38: 11:66018915-66018915
35 CATSPER1 NM_053054.4(CATSPER1):c.1544-10G>A SNV Uncertain significance 305425 rs764182570 GRCh37: 11:65789124-65789124
GRCh38: 11:66021653-66021653
36 CATSPER1 NM_053054.4(CATSPER1):c.1884G>A (p.Thr628=) SNV Uncertain significance 305422 rs370158610 GRCh37: 11:65788325-65788325
GRCh38: 11:66020854-66020854
37 CATSPER1 NM_053054.4(CATSPER1):c.333C>T (p.Tyr111=) SNV Uncertain significance 305448 rs575875557 GRCh37: 11:65793518-65793518
GRCh38: 11:66026047-66026047
38 CATSPER1 NM_053054.4(CATSPER1):c.*96G>A SNV Uncertain significance 305414 rs1783566 GRCh37: 11:65784265-65784265
GRCh38: 11:66016794-66016794
39 CATSPER1 NM_053054.4(CATSPER1):c.1195G>A (p.Gly399Arg) SNV Uncertain significance 305434 rs886048522 GRCh37: 11:65792656-65792656
GRCh38: 11:66025185-66025185
40 CATSPER1 NM_053054.4(CATSPER1):c.1444G>A (p.Ala482Thr) SNV Uncertain significance 305431 rs886048521 GRCh37: 11:65789336-65789336
GRCh38: 11:66021865-66021865
41 CATSPER1 NM_053054.4(CATSPER1):c.55G>A (p.Ala19Thr) SNV Uncertain significance 305451 rs775284326 GRCh37: 11:65793796-65793796
GRCh38: 11:66026325-66026325
42 CATSPER1 NM_053054.4(CATSPER1):c.1514C>T (p.Ser505Leu) SNV Uncertain significance 305428 rs74484098 GRCh37: 11:65789266-65789266
GRCh38: 11:66021795-66021795
43 CATSPER1 NM_053054.4(CATSPER1):c.853_854CA[3] (p.Gln287fs) Microsatellite Uncertain significance 561180 rs1565074167 GRCh37: 11:65792991-65792992
GRCh38: 11:66025520-66025521
44 CATSPER1 NM_053054.4(CATSPER1):c.1457T>A (p.Ile486Lys) SNV Uncertain significance 877855 GRCh37: 11:65789323-65789323
GRCh38: 11:66021852-66021852
45 CATSPER1 NM_053054.4(CATSPER1):c.1270T>C (p.Trp424Arg) SNV Uncertain significance 877856 GRCh37: 11:65790479-65790479
GRCh38: 11:66023008-66023008
46 CATSPER1 NM_053054.4(CATSPER1):c.310G>A (p.Ala104Thr) SNV Uncertain significance 877899 GRCh37: 11:65793541-65793541
GRCh38: 11:66026070-66026070
47 CATSPER1 NM_053054.4(CATSPER1):c.261C>T (p.His87=) SNV Uncertain significance 877900 GRCh37: 11:65793590-65793590
GRCh38: 11:66026119-66026119
48 CATSPER1 NM_053054.4(CATSPER1):c.216C>T (p.Ser72=) SNV Uncertain significance 877901 GRCh37: 11:65793635-65793635
GRCh38: 11:66026164-66026164
49 CATSPER1 NM_053054.4(CATSPER1):c.148G>A (p.Val50Met) SNV Uncertain significance 877902 GRCh37: 11:65793703-65793703
GRCh38: 11:66026232-66026232
50 CATSPER1 NM_053054.4(CATSPER1):c.145G>A (p.Gly49Ser) SNV Uncertain significance 877903 GRCh37: 11:65793706-65793706
GRCh38: 11:66026235-66026235

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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