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CATSPER1-related non syndromic male infertility
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive cutis laxa type 1
Lethal arteriopathy syndrome due to FBLN4 deficiency
Isolated ectopia lentis
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare infertility
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CATSPER1 Q8NEC5606389
No signs/symptoms info available.