RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:137893

Male infertility due to large-headed multiflagellar polyploid spermatozoa

low confidenceSubtype of disorder

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

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

Publications

1,469

Trials

0

Interventional, condition-specific

Researchers

282

Distinct authors in sample

Gene link

AURKC, DNAH8

Definitive

Readiness

4/6

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.”

4/6 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

    1,469 matched papers (1,083 in last 10 years) Source

  3. Phenotype characterisedPresent

    3 HPO annotations (e.g. Male infertility; Macrozoospermia; Multiflagellar spermatozoa) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 108 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)

3

Associated phenotypes · MONDO:0009461

  • Male infertility
  • Macrozoospermia
  • Multiflagellar spermatozoa

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,469

1,469 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,469 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,083 in the last 10 years · low confidence

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). 108 trials are registered for male infertility, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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

Broader category: male infertility

108

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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Male infertility due to large-headed multiflagellar polyploid spermatozoa — check Associations / patient organisations on that page.

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") OR (MESH:"Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa") OR ("AURKC" OR "AURKC syndrome" OR "AURKC-related" OR "DNAH8" OR "DNAH8 syndrome" OR "DNAH8-related")

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"

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; 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
  • Publication count (1469) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T07:31:29.571Z