Non-Syndromic Male Infertility Due to Sperm Motility Disorder disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the genitourinary system

Diseases of male genital organs

Male infertility

Orphanet: ⁵⁸

Rare infertility disorders

External Ids:

ICD10 via Orphanet ³³ N46

Orphanet ⁵⁸ ORPHA276234

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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

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

Diseases related to Non-Syndromic Male Infertility Due to Sperm Motility Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	male infertility due to sperm motility disorder	10.3	DNAH1 CFAP251
2	spermatogenic failure 18	10.2	DNAH1 CFAP251
3	male infertility with teratozoospermia due to single gene mutation	10.2	CFAP251 ARMC2
4	spermatogenic failure 3	10.0	SLC26A8 CFAP251
5	epithelial recurrent erosion dystrophy	9.8	SPAG17 CFAP43
6	infertility	9.8	SEPTIN12 DNAH1 CFAP251 CATSPER1
7	kartagener syndrome	9.7	DNAH17 DNAH1 AK7
8	male infertility	9.4	SEPTIN12 DNAH1 CFAP44 CFAP43 CFAP251 CATSPER1
9	primary ciliary dyskinesia	8.2	SPEF2 SPAG17 DNAH17 DNAH1 CFAP69 CFAP44

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

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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

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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

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

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

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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	Dirami T...Toure A	23582645	2013
2	SEPT12 mutations cause male infertility with defective sperm annulus. ⁶	Kuo YC...Kuo PL	22275165	2012
3	SEPTIN12 genetic variants confer susceptibility to teratozoospermia. ⁶	Lin YH...Kuo PL	22479503	2012
4	CATSPER-Related Male Infertility ⁶	Hildebrand MS...Smith RJH	20301780	2009
5	Human male infertility caused by mutations in the CATSPER1 channel protein. ⁶	Avenarius MR...Smith RJ	19344877	2009

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

Genes related to Non-Syndromic Male Infertility Due to Sperm Motility Disorder (18 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CFAP251	Cilia And Flagella Associated Protein 251	Protein Coding	758.64	Pathogenic ⁶ Causative germline mutation ⁵⁸ GeneCards inferred via : Variants (show sections)
2	DNAH1	Dynein Axonemal Heavy Chain 1	Protein Coding	358.3	Causative germline mutation ⁵⁸ GeneCards inferred via : Variants (show sections)
3	AK7	Adenylate Kinase 7	Protein Coding	350	Causative germline mutation ⁵⁸
4	ARMC2	Armadillo Repeat Containing 2	Protein Coding	350	Causative germline mutation ⁵⁸
5	CATSPER1	Cation Channel Sperm Associated 1	Protein Coding	350	Causative germline mutation ⁵⁸
6	CFAP43	Cilia And Flagella Associated Protein 43	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
7	CFAP44	Cilia And Flagella Associated Protein 44	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
8	CFAP65	Cilia And Flagella Associated Protein 65	Protein Coding	350	Causative germline mutation ⁵⁸
9	CFAP69	Cilia And Flagella Associated Protein 69	Protein Coding	350	Causative germline mutation ⁵⁸
10	CFAP70	Cilia And Flagella Associated Protein 70	Protein Coding	350	Causative germline mutation ⁵⁸
11	DNAH17	Dynein Axonemal Heavy Chain 17	Protein Coding	350	Causative germline mutation ⁵⁸
12	FSIP2	Fibrous Sheath Interacting Protein 2	Protein Coding	350	Causative germline mutation ⁵⁸
13	SEPTIN12	Septin 12	Protein Coding	350	Causative germline mutation ⁵⁸
14	SLC26A8	Solute Carrier Family 26 Member 8	Protein Coding	350	Causative germline mutation ⁵⁸
15	SPAG17	Sperm Associated Antigen 17	Protein Coding	350	Causative germline mutation ⁵⁸
16	SPEF2	Sperm Flagellar 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
17	TTC21A	Tetratricopeptide Repeat Domain 21A	Protein Coding	350	Causative germline mutation ⁵⁸
18	TTC29	Tetratricopeptide Repeat Domain 29	Protein Coding	350	Causative germline mutation ⁵⁸

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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

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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.

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

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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

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