granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
Findings
No curated finding names granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009309), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased neutrophil oxidative burstHPOHP:0003203
- 6 of 6 reported patients
- Liver abscessHPOHP:0100523
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NCF1HGNC:7660
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
- Also called
- chronic granulomatous disease 1, autosomal recessivechronic granulomatous disease caused by mutation in NCF1NCF1 chronic granulomatous disease