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Non-syndromic male infertility

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Non-syndromic male infertility due to sperm motility disorder

ORPHA:276234Disease

Also called Non-syndromic male infertility due asthenozoospermia

What it is

Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present.

Key facts

Age of onset
Adult
Inheritance
Autosomal recessive
Classified as
Disease

Genes

ACTL9Disease-causing germline mutation(s)
AK7Disease-causing germline mutation(s)
AK9Disease-causing germline mutation(s)
AKAP4Disease-causing germline mutation(s) (loss of function)
ARMC2Disease-causing germline mutation(s)
CATSPER1Disease-causing germline mutation(s)
CFAP251Disease-causing germline mutation(s)
CFAP43Disease-causing germline mutation(s) (loss of function)
CFAP44Disease-causing germline mutation(s) (loss of function)
CFAP65Disease-causing germline mutation(s)
CFAP69Disease-causing germline mutation(s)
CFAP70Disease-causing germline mutation(s)
DNAH1Disease-causing germline mutation(s)
DNAH17Disease-causing germline mutation(s)
DNALI1Disease-causing germline mutation(s)
DRC1Disease-causing germline mutation(s) (loss of function)
FSIP2Disease-causing germline mutation(s)
SEPTIN12Disease-causing germline mutation(s)
SLC26A8Disease-causing germline mutation(s)
SPAG17Disease-causing germline mutation(s)
SPEF2Disease-causing germline mutation(s) (loss of function)
SSX1Disease-causing germline mutation(s)
TEKT3Disease-causing germline mutation(s)
TTC21ADisease-causing germline mutation(s)
TTC29Disease-causing germline mutation(s)
USP26Disease-causing germline mutation(s)

ICD-10 codes

N46filed under a broader ICD-10 category — shared with 6 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Male Infertility

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0017173OMIM 301099OMIM 301101OMIM 606766OMIM 612997OMIM 614822OMIM 617576OMIM 617592OMIM 617593OMIM 617959OMIM 617965OMIM 618152OMIM 618153OMIM 618429OMIM 618433OMIM 618643OMIM 618664OMIM 618670OMIM 618745OMIM 618751OMIM 620277OMIM 620354OMIM 620705UMLS C0403811

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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