ORPHA:331176
Severe congenital neutropenia due to G6PC3 deficiency
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
50
46.2th percentile
Trials
2
Interventional, condition-specific
Researchers
392
Distinct authors in sample
Gene link
G6PC3
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012930
- OMIM:612541
- UMLS:C2751630
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — G6PC3
- LiteraturePresent
50 matched papers (34 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 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)
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?
50
50 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.
50 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).
34 in the last 10 years · medium confidence · 46.2th percentile (publications denominator)
Phrase hits: 50 · MeSH hits: 0
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.
- 01Van Schaftingen E5 papers · 2025
Groupe de Recherches Metaboliques, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
Papers in Europe PMC - 02Veiga-da-Cunha M5 papers · 2025
Groupe de Recherches Metaboliques, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
Papers in Europe PMC - 03Banka 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 - 04Chevalier N4 papers · 2023
Groupe de Recherches Metaboliques, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.
Papers in Europe PMC - 05Boztug K3 papers · 2023
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Papers in Europe PMC - 06Mutchinick OM3 papers · 2024
Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Papers in Europe PMC - 07Newman WG3 papers · 2013Papers in Europe PMC
- 08Svyryd Y3 papers · 2024
Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.
Papers in Europe PMC - 09Adeva-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 - 10Alvarez-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?
2
interventional trials for this specific condition
2 interventional trials 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 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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.
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 2026-07-26This 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"
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" OR "G6PC3"
Recall-expansion terms: G6PC3
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 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, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T14:07:05.334Z