RARE DISEASERESEARCH ATLAS

ORPHA:276234

Non-syndromic male infertility due to sperm motility disorder

high confidenceDisorder

Also known as: Non-syndromic male infertility due asthenozoospermia

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

5

19.9th percentile

Trials

0

Interventional, condition-specific

Researchers

41

Distinct authors in sample

Gene link

SLC26A8

Strong

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

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.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

isolated male infertility due to sperm motility disorder · non-syndromic male infertility due asthenozoospermia · nonsyndromic male infertility due to sperm motility disorder

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — SLC26A8

  2. LiteraturePresent

    5 matched papers (5 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (SLC26A8).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

5

5 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

5 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

5 in the last 10 years · high confidence · 19.9th percentile (publications denominator)

Phrase hits: 5 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

41

Distinct author names in 5 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Zhang Z2 papers · 2022

    Marine Fisheries Research Institute of Jiangsu Province, Nantong 226007, China.

    Papers in Europe PMC
  2. 02
    Agarwal A1 paper · 2021

    American Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH, United States.

    Papers in Europe PMC
  3. 03
    Alexandrescu S1 paper · 2023

    Robert's Program on Sudden Unexplained Death in Pediatrics Boston Children's Hospital Boston MA 02115 USA.

    Papers in Europe PMC
  4. 04
    Brownstein CA1 paper · 2023

    Robert's Program on Sudden Unexplained Death in Pediatrics Boston Children's Hospital Boston MA 02115 USA.

    Papers in Europe PMC
  5. 05
    Chen S1 paper · 2022

    Marine Fisheries Research Institute of Jiangsu Province, Nantong 226007, China.

    Papers in Europe PMC
  6. 06
    Darbandi S1 paper · 2021

    Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran.

    Papers in Europe PMC
  7. 07
    Douard E1 paper · 2023

    Sainte Justine Hospital Research Center Montreal Quebec H3T 1C5 Canada.

    Papers in Europe PMC
  8. 08
    Finelli R1 paper · 2021

    American Center for Reproductive Medicine, Cleveland Clinic, Cleveland, OH, United States.

    Papers in Europe PMC
  9. 09
    Gao B1 paper · 2022

    Marine Fisheries Research Institute of Jiangsu Province, Nantong 226007, China.

    Papers in Europe PMC
  10. 10
    Goldstein RD1 paper · 2023

    Robert's Program on Sudden Unexplained Death in Pediatrics Boston Children's Hospital Boston MA 02115 USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Non-syndromic male infertility due to sperm motility disorder" OR "Non-syndromic male infertility due asthenozoospermia" OR "isolated male infertility due to sperm motility disorder" OR "nonsyndromic male infertility due to sperm motility disorder"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Non-syndromic male infertility due to sperm motility disorder" OR "Non-syndromic male infertility due asthenozoospermia" OR "isolated male infertility due to sperm motility disorder" OR "nonsyndromic male infertility due to sperm motility disorder" OR "SLC26A8"

Recall-expansion terms: SLC26A8

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T11:40:34.551Z