MCID: CTS004
MIFTS: 14

Catsper-Related Male Infertility

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Catsper-Related Male Infertility

MalaCards integrated aliases for Catsper-Related Male Infertility:

Name: Catsper-Related Male Infertility 25 30 6

Classifications:



Summaries for Catsper-Related Male Infertility

MalaCards based summary : Catsper-Related Male Infertility is related to male infertility and infertility. An important gene associated with Catsper-Related Male Infertility is CATSPER1 (Cation Channel Sperm Associated 1), and among its related pathways/superpathways is Fertilization.

GeneReviews: NBK22925

Related Diseases for Catsper-Related Male Infertility

Diseases in the Male Infertility family:

Catsper-Related Male Infertility Catsper1-Related Nonsyndromic Male Infertility
Male Infertility Due to Acephalic Spermatozoa

Diseases related to Catsper-Related Male Infertility via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 male infertility 9.8 CATSPER1 CATSPER2
2 infertility 9.7 CATSPER1 CATSPER2
3 deafness-infertility syndrome 9.5 CATSPER2 STRC

Symptoms & Phenotypes for Catsper-Related Male Infertility

Drugs & Therapeutics for Catsper-Related Male Infertility

Search Clinical Trials , NIH Clinical Center for Catsper-Related Male Infertility

Genetic Tests for Catsper-Related Male Infertility

Genetic tests related to Catsper-Related Male Infertility:

# Genetic test Affiliating Genes
1 Catsper-Related Male Infertility 30 CATSPER1 CATSPER2 STRC

Anatomical Context for Catsper-Related Male Infertility

Publications for Catsper-Related Male Infertility

Articles related to Catsper-Related Male Infertility:

# Title Authors Year
1
Human male infertility caused by mutations in the CATSPER1 channel protein. ( 19344877 )
2009

Variations for Catsper-Related Male Infertility

ClinVar genetic disease variations for Catsper-Related Male Infertility:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CATSPER1 NM_053054.3(CATSPER1): c.539dupT (p.His182Profs) duplication Pathogenic rs193929390 GRCh37 Chromosome 11, 65793312: 65793312
2 CATSPER1 NM_053054.3(CATSPER1): c.539dupT (p.His182Profs) duplication Pathogenic rs193929390 GRCh38 Chromosome 11, 66025841: 66025841
3 CATSPER1 NM_053054.3(CATSPER1): c.944_948dupATGGC (p.Asp317Metfs) duplication Pathogenic rs193929391 GRCh37 Chromosome 11, 65792903: 65792907
4 CATSPER1 NM_053054.3(CATSPER1): c.944_948dupATGGC (p.Asp317Metfs) duplication Pathogenic rs193929391 GRCh38 Chromosome 11, 66025432: 66025436
5 STRC NM_153700.2(STRC): c.4219-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs748854592 GRCh38 Chromosome 15, 43604153: 43604153
6 STRC NM_153700.2(STRC): c.4219-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs748854592 GRCh37 Chromosome 15, 43896351: 43896351
7 CATSPER1 NM_053054.3(CATSPER1): c.859_860delCA (p.Gln287Alafs) deletion Uncertain significance GRCh38 Chromosome 11, 66025520: 66025521
8 CATSPER1 NM_053054.3(CATSPER1): c.859_860delCA (p.Gln287Alafs) deletion Uncertain significance GRCh37 Chromosome 11, 65792991: 65792992

Expression for Catsper-Related Male Infertility

Search GEO for disease gene expression data for Catsper-Related Male Infertility.

Pathways for Catsper-Related Male Infertility

Pathways related to Catsper-Related Male Infertility according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.51 CATSPER1 CATSPER2

GO Terms for Catsper-Related Male Infertility

Cellular components related to Catsper-Related Male Infertility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.26 CATSPER1 CATSPER2
2 motile cilium GO:0031514 9.16 CATSPER1 CATSPER2
3 cell projection GO:0042995 9.13 CATSPER1 CATSPER2 STRC
4 CatSper complex GO:0036128 8.62 CATSPER1 CATSPER2

Biological processes related to Catsper-Related Male Infertility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.4 CATSPER1 CATSPER2
2 spermatogenesis GO:0007283 9.37 CATSPER1 CATSPER2
3 regulation of ion transmembrane transport GO:0034765 9.32 CATSPER1 CATSPER2
4 calcium ion transport GO:0006816 9.26 CATSPER1 CATSPER2
5 calcium ion transmembrane transport GO:0070588 9.16 CATSPER1 CATSPER2
6 flagellated sperm motility GO:0030317 8.96 CATSPER1 CATSPER2
7 sperm-egg recognition GO:0035036 8.62 CATSPER1 CATSPER2

Molecular functions related to Catsper-Related Male Infertility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.16 CATSPER1 CATSPER2
2 calcium channel activity GO:0005262 8.96 CATSPER1 CATSPER2
3 calcium activated cation channel activity GO:0005227 8.62 CATSPER1 CATSPER2

Sources for Catsper-Related Male Infertility

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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