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ORPHA:137893

Male infertility due to large-headed multiflagellar polyploid spermatozoa

high confidenceSubtype of disorder

Also known as: Macrocephalic sperm head syndrome · Male infertility due to macrozoospermia

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

38

37.8th percentile

Trials

0

Interventional, condition-specific

Researchers

282

Distinct authors in sample

Gene link

AURKC, DNAH8

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

SPGF5 · macrocephalic sperm head syndrome · macrozoospermia with multiflagellar polyploid spermatozoa · male infertility due to large-headed multiflagellar polyploid spermatozoa · male infertility due to macrozoospermia · male infertility with large-headed, multiflagellar, polyploid spermatozoa · spermatogenic failure 5 · spermatogenic failure type 5

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.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — AURKC, DNAH8

  2. LiteraturePresent

    38 matched papers (21 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 trialPartial

    None under the specific name; 105 for broader category male infertility

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 (AURKC, DNAH8).

GenCC classification: Definitive.

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?

38

38 papers have ever been published on this condition (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.

38 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).

21 in the last 10 years · high confidence · 37.8th percentile (publications denominator)

Phrase hits: 38 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

282

Distinct author names in 38 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
    Vialard F4 papers · 2021

    GIG, EA7404, Université Versailles St Quentin en Yvelines, Montigny le Bretonneux, France.

    Papers in Europe PMC
  2. 02
    Bertelli M3 papers · 2023

    MAGI EUREGIO, Bolzano, Italy; MAGI'S LAB, Rovereto (TN), Italy; EBTNA-LAB, Rovereto (TN), Italy. matteo.bertelli@assomagi.org.

    Papers in Europe PMC
  3. 03
    Guthauser B3 papers · 2016

    Department of Reproductive Biology, Centre Hospitalier de Dreux, Dreux, France. brunoguthauser@hotmail.com

    Papers in Europe PMC
  4. 04
    Albert M2 papers · 2010
    Papers in Europe PMC
  5. 05
    Ars E2 papers · 2019

    Molecular Biology Laboratory, Fundació Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain.

    Papers in Europe PMC
  6. 06
    Brahem S2 papers · 2012

    Department of Cytogenetic and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia. brahemsonia@yahoo.fr

    Papers in Europe PMC
  7. 07
    Calogero AE2 papers · 2023

    Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy. aldo.calogero@unict.it.

    Papers in Europe PMC
  8. 08
    Cannarella R2 papers · 2023

    Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

    Papers in Europe PMC
  9. 09
    Chianese C2 papers · 2019

    Department of Experimental and Clinical Biomedical Sciences, University of Florence and Centre of Excellence DeNothe, Florence, Italy; Molecular Biology Laboratory, Fundació Puigvert, Universitat Autonoma de Barcelona, Barcelona, Spain.

    Papers in Europe PMC
  10. 10
    Elghezal H2 papers · 2012
    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). 105 trials are registered for male infertility, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

105 interventional trials matched male infertility, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: male infertility

105

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

"Male infertility due to large-headed multiflagellar polyploid spermatozoa" OR "Macrocephalic sperm head syndrome" OR "Male infertility due to macrozoospermia" OR "SPGF5" OR "macrozoospermia with multiflagellar polyploid spermatozoa" OR "male infertility with large-headed, multiflagellar, polyploid spermatozoa" OR "spermatogenic failure 5" OR "spermatogenic failure type 5"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa

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

"Male infertility due to large-headed multiflagellar polyploid spermatozoa" OR "Macrocephalic sperm head syndrome" OR "Male infertility due to macrozoospermia" OR "SPGF5" OR "macrozoospermia with multiflagellar polyploid spermatozoa" OR "male infertility with large-headed, multiflagellar, polyploid spermatozoa" OR "spermatogenic failure 5" OR "spermatogenic failure type 5" OR "AURKC" OR "DNAH8" OR "male infertility with teratozoospermia due to single gene mutation"

Recall-expansion terms: AURKC, DNAH8, male infertility with teratozoospermia due to single gene mutation

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

Parent-category trials query:

"male infertility"

Query health: suspect — strategies attempted: phrase, mesh, 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 2026-07-27T07:31:29.571Z