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ORPHA:139466

SERKAL syndrome

low confidenceDisorder

Also known as: Sex reversion-kidneys, adrenal and lung dysgenesis syndrome

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

Publications

9,625

Trials

0

Interventional, condition-specific

Researchers

424

Distinct authors in sample

Gene link

WNT4

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs

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 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 — WNT4

  2. LiteraturePresent

    9,625 matched papers (6,307 in last 10 years) Source

  3. Phenotype characterisedPresent

    32 HPO annotations (e.g. Pulmonary hypoplasia; Abnormal penis morphology; Hypospadias) 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 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 (WNT4).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

32

Associated phenotypes · MONDO:0012734

  • Pulmonary hypoplasia
  • Abnormal penis morphology
  • Hypospadias
  • Congenital diaphragmatic hernia
  • Ventricular septal defect

Showing 5 of 32 — open Monarch for the full list.

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?

9,625

9,625 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,625 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).

6,307 in the last 10 years · low confidence

Phrase hits: 65 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

424

Distinct author names in 65 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
    Hammer GD7 papers · 2025

    Endocrine Oncology Program, Center for Organogenesis, University of Michigan, 109 Zina Pitcher Place, 1528 BSRB, Ann Arbor, MI 48109-2200, USA. Electronic address: ghammer@umich.edu.

    Papers in Europe PMC
  2. 02
    Lerario AM5 papers · 2025

    Internal Medicine, Medical School, University of Michigan, 109 Zina Pitcher Place, 1860 BSRB, Ann Arbor, MI 48109, USA.

    Papers in Europe PMC
  3. 03
    Achermann JC3 papers · 2020

    UCL GOSH Institute of Child Health, London WC1N 1EH, UK.

    Papers in Europe PMC
  4. 04
    Buonocore F2 papers · 2020

    Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

    Papers in Europe PMC
  5. 05
    Cleaver O2 papers · 2023

    Dept. of Molecular Biology, Univ. of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390, USA. Electronic address: ondine.cleaver@utsouthwestern.edu.

    Papers in Europe PMC
  6. 06
    Dumontet T2 papers · 2025

    Training Program in Organogenesis, Center for Cell Plasticity and Organ Design, USA; Department of Internal Medicine, Division of Metabolism, Endocrinology, and Diabetes, USA.

    Papers in Europe PMC
  7. 07
    Finco I2 papers · 2019

    Department of Internal Medicine, Division of Metabolism, Endocrinology, and Diabetes, University of Michigan , Ann Arbor, MI , USA.

    Papers in Europe PMC
  8. 08
    Flück CE2 papers · 2023

    Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, and.

    Papers in Europe PMC
  9. 09
    Hernández-García A2 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

    Papers in Europe PMC
  10. 10
    Katoh M2 papers · 2017

    Department of Omics Network, National Cancer Center, Tokyo 104-0045, Japan.

    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 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.

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

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 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · 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).

Uncertain / not reviewed (60)

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 SERKAL syndrome — 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.

("SERKAL syndrome" OR "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" OR "46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs" OR "46,XX Sex reversal with dysgenesis of the kidneys Adrenals and lungs") OR (MESH:"Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs") OR ("WNT4" OR "WNT4 syndrome" OR "WNT4-related" OR "SERKAL" OR "SERKAL-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs

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

"SERKAL syndrome" OR "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" OR "46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs" OR "46,XX Sex reversal with dysgenesis of the kidneys Adrenals and lungs" OR "Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs"

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

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (9625) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:37:06.292Z