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 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:

MalaCards categories:
Global: Rare diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the genitourinary system

Diseases of male genital organs

Male infertility

Orphanet: ⁶⁰

Rare infertility disorders

External Ids:

ICD10 via Orphanet ³⁵ N46

Orphanet ⁶⁰ 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, 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.

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Related Diseases for 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:

⁴⁷

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

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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

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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 (11 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	WDR66	WD Repeat Domain 66	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁶⁰
2	DNAH1	Dynein Axonemal Heavy Chain 1	Protein Coding	350	Causative germline mutation ⁶⁰
3	SEPTIN12	Septin 12	Protein Coding	350	Causative germline mutation ⁶⁰
4	SLC26A8	Solute Carrier Family 26 Member 8	Protein Coding	350	Causative germline mutation ⁶⁰
5	CATSPER1	Cation Channel Sperm Associated 1	Protein Coding	350	Causative germline mutation ⁶⁰
6	FSIP2	Fibrous Sheath Interacting Protein 2	Protein Coding	350	Causative germline mutation ⁶⁰
7	SPAG17	Sperm Associated Antigen 17	Protein Coding	350	Causative germline mutation ⁶⁰
8	CFAP69	Cilia And Flagella Associated Protein 69	Protein Coding	350	Causative germline mutation ⁶⁰
9	AK7	Adenylate Kinase 7	Protein Coding	350	Causative germline mutation ⁶⁰
10	CFAP44	Cilia And Flagella Associated Protein 44	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
11	CFAP43	Cilia And Flagella Associated Protein 43	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰

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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	Variation	Type	Significance	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

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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	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

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