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ORPHA:331176

Severe congenital neutropenia due to G6PC3 deficiency

low confidenceDisorder

Also known as: SCN due to G6PC3 deficiency · SCN4 · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency · Severe congenital neutropenia type 4 · Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome

Publications

974

Trials

1

Interventional, condition-specific

Researchers

392

Distinct authors in sample

Gene link

G6PC3

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

severe neutropenia due to G6PC3 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by increased susceptibility to recurrent, life-threatening bacterial infections, in association with typically severe neutropenia in peripheral blood and bone marrow and a prominent ectatic superficial vein pattern, resulting from recessively inherited mutations in the G6PC3 gene. Cardiac malformations (e.g. atrial septal defects, patent ductus arteriosus,valvular defects), urogenital anomalies (incl. cryptorchidism), growth and , facial dysmorphism (e.g. frontal bossing, upturned nose, malar hypoplasia), and intermittent thrombocytopenia are frequently associated.

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 (4)

autosomal recessive severe congenital neutropenia due to G6PC3 deficiency · neutropenia, severe congenital 4, autosomal recessive · severe congenital neutropenia type 4 · severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — G6PC3

  2. LiteraturePresent

    974 matched papers (712 in last 10 years) Source

  3. Phenotype characterisedPresent

    51 HPO annotations (e.g. Myopathy; Neonatal omphalitis; Increased total monocyte count) 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 trialPresent

    1 matched on ClinicalTrials.gov

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 (G6PC3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

51

Associated phenotypes · MONDO:0012930

  • Myopathy
  • Neonatal omphalitis
  • Increased total monocyte count
  • Urachus fistula
  • Varicose veins

Showing 5 of 51 — 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?

974

974 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.

974 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).

712 in the last 10 years · low confidence

Phrase hits: 50 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

392

Distinct author names in 50 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Van Schaftingen E5 papers · 2025

    Groupe de Recherches Metaboliques, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.

    Papers in Europe PMC
  2. 02
    Veiga-da-Cunha M5 papers · 2025

    Groupe de Recherches Metaboliques, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.

    Papers in Europe PMC
  3. 03
    Banka S4 papers · 2013

    Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK. Siddharth.Banka@manchester.ac.uk

    Papers in Europe PMC
  4. 04
    Chevalier N4 papers · 2023

    Groupe de Recherches Metaboliques, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.

    Papers in Europe PMC
  5. 05
    Boztug K3 papers · 2023

    Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.

    Papers in Europe PMC
  6. 06
    Mutchinick OM3 papers · 2024

    Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

    Papers in Europe PMC
  7. 07
    Newman WG3 papers · 2013
    Papers in Europe PMC
  8. 08
    Svyryd Y3 papers · 2024

    Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

    Papers in Europe PMC
  9. 09
    Adeva-Andany MM2 papers · 2016

    Nephrology Division, Hospital General Juan Cardona, c/ Pardo Bazán s/n, 15406 Ferrol, Spain madevaa@yahoo.com.

    Papers in Europe PMC
  10. 10
    Alvarez-Cardona A2 papers · 2022

    Unidad de investigacion en Inmunologia Clinica y Alergia Aguascalientes, Aguascalientes, Mexico.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 10 trials are registered for severe congenital neutropenia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: severe congenital neutropenia

10

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.

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 Severe congenital neutropenia due to G6PC3 deficiency — 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.

("Severe congenital neutropenia due to G6PC3 deficiency" OR "SCN due to G6PC3 deficiency" OR "Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency" OR "Severe congenital neutropenia type 4" OR "Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" OR "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" OR "neutropenia, severe congenital 4, autosomal recessive") OR ("G6PC3" OR "G6PC3 syndrome" OR "G6PC3-related")

Run this search on Europe PMC

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

"Severe congenital neutropenia due to G6PC3 deficiency" OR "SCN due to G6PC3 deficiency" OR "Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency" OR "Severe congenital neutropenia type 4" OR "Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" OR "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" OR "neutropenia, severe congenital 4, autosomal recessive"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"severe congenital neutropenia"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SCN4

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (974) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T14:07:05.334Z