Neutropenia, lethal congenital, with eosinophilia

Summary

Neutropenia, lethal congenital, with eosinophilia (MONDO:0009754) is a disease. A subtype of autosomal dominant severe congenital neutropenia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	neutropenia, lethal congenital, with eosinophilia
Mondo ID	MONDO:0009754
MeSH	C564943
OMIM	257100
UMLS	C1850381
MedGen	338037
GARD	0006107
Is cancer (heuristic)	no

Also known as: lethal congenital neutropenia with eosinophilia · neutropenia lethal congenital with eosinophilia · neutropenia, lethal congenital, with eosinophilia

Disease family

This is a subtype of autosomal dominant severe congenital 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › autosomal dominant severe congenital neutropenia › neutropenia, lethal congenital, with eosinophilia

Related subtypes (2): neutropenia, severe congenital, 2, autosomal dominant, neutropenia, severe congenital, 1, autosomal dominant

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: 0.