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CATSPER-Related Male Infertility(SPGF7)

MedGen UID:
414478
Concept ID:
C2751811
Disease or Syndrome
Synonyms: CATSPER1-related male infertility; CATSPER1-related nonsyndromic male infertility; MALE INFERTILITY, NONSYNDROMIC, AUTOSOMAL RECESSIVE; SPERMATOGENIC FAILURE 7; SPGF7
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Genes: STRC; CATSPER2; CATSPER1
Cytogenetic locations: 11q13.1; 15q15.3
OMIM: 612997

Disease characteristics

Excerpted from the GeneReview: CATSPER-Related Male Infertility
CATSPER-related male infertility results from abnormalities in sperm and can be either CATSPER-related nonsyndromic male infertility (NSMI) or the deafness-infertility syndrome (DIS) when associated with non-progressive prelingual sensorineural hearing loss. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  GeneReview Scope  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Michael S Hildebrand  |  Matthew R Avenarius  |  Richard JH Smith   view full author information

Additional description

From GHR
CATSPER1-related nonsyndromic male infertility is a condition that affects the function of sperm, leading to an inability to father children. Males with this condition produce sperm that have decreased movement (motility). Affected men may also produce a smaller than usual number of sperm cells or sperm cells that are abnormally shaped. Men with CATSPER1-related nonsyndromic male infertility do not have any other symptoms related to this condition.  http://ghr.nlm.nih.gov/condition/catsper1-related-nonsyndromic-male-infertility

Clinical features

Oligospermia
MedGen UID:
504604
Concept ID:
CN000745
Finding
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
Reduced sperm motility
MedGen UID:
489663
Concept ID:
CN167933
Finding
An abnormal reduction in the mobility of ejaculated sperm.

Recent clinical studies

Diagnosis

Hildebrand MS, Avenarius MR, Fellous M, Zhang Y, Meyer NC, Auer J, Serres C, Kahrizi K, Najmabadi H, Beckmann JS, Smith RJ
Eur J Hum Genet 2010 Nov;18(11):1178-84. Epub 2010 Jul 21 doi: 10.1038/ejhg.2010.108. [Epub ahead of print] PMID: 20648059Free PMC Article

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