Constitutional neutropenia

disease

On this page

Also known as congenital neutropeniagenetic infantile agranulocytosisinfantile genetic agranulocytosisKostmann diseaseKostmann neutropeniaKostmann syndrome

Summary

Constitutional neutropenia (MONDO:0015134) is a disease (an umbrella term covering 13 Mondo subtypes) and 5 clinical trials. Top therapeutic interventions include fludarabine phosphate. A subtype of neutropenia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

Umbrella term: 13 Mondo subtypes
Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	constitutional neutropenia
Mondo ID	MONDO:0015134
Orphanet	101987
ICD-11	87096615
NCIT	C61242
UMLS	C3805116
MedGen	1785816
GARD	0019809
Is cancer (heuristic)	no

Also known as: congenital neutropenia · genetic infantile agranulocytosis · infantile genetic agranulocytosis · Kostmann disease · Kostmann neutropenia · Kostmann syndrome

Data availability: 3 cell lines.

Disease family

This is a subtype of neutropenia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › immune system disorder › leukocyte disorder › leukopenia › agranulocytosis › neutropenia › constitutional neutropenia

Subtypes (13): cyclic hematopoiesis, Chediak-Higashi syndrome, Cohen syndrome, glycogen storage disease Ib, Lichtenstein syndrome, Barth syndrome, poikiloderma with neutropenia, Griscelli syndrome type 2, Hermansky-Pudlak syndrome 2, primary immunodeficiency syndrome due to p14 deficiency, neutropenia-monocytopenia-deafness syndrome, severe congenital neutropenia, WHIM syndrome 1

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE2	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03333486	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer
NCT07066085	EARLY_PHASE1	RECRUITING	Serial Blood Count Study
NCT06999954	Not specified	RECRUITING	Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
NCT00244010	Not specified	COMPLETED	Partially Matched Stem Cell Transplantation for Patients With Refractory Severe Aplastic Anemia or Refractory Cytopenias
NCT02866162	Not specified	COMPLETED	Screening for Genes in Patients With Congenital Neutropenia

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
FLUDARABINE PHOSPHATE	4	1

Drugs: Fludarabine Phosphate