chronic granulomatous disease
Findings
No curated finding names chronic granulomatous disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.
Definition from the Mondo Disease Ontology (MONDO:0018305), read 2026-09-29. CC BY 4.0.
Features
22 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.
- Abnormality of neutrophilsHPOHP:0001874
- Very frequent (80% to 99% of cases)
- Chronic pulmonary obstructionHPOHP:0006510
- Very frequent (80% to 99% of cases)
- Cutaneous photosensitivityHPOHP:0000992
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- Hypermelanotic maculeHPOHP:0001034
- Very frequent (80% to 99% of cases)
- MaculeHPOHP:0012733
- Very frequent (80% to 99% of cases)
- MalabsorptionHPOHP:0002024
- Very frequent (80% to 99% of cases)
- Mediastinal lymphadenopathyHPOHP:0100721
- Very frequent (80% to 99% of cases)
- Otitis mediaHPOHP:0000388
- Very frequent (80% to 99% of cases)
- Pyloric stenosisHPOHP:0002021
- Very frequent (80% to 99% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Very frequent (80% to 99% of cases)
Show the remaining 10
- SinusitisHPOHP:0000246
- Very frequent (80% to 99% of cases)
- Tracheoesophageal fistulaHPOHP:0002575
- Very frequent (80% to 99% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Occasional (5% to 29% of cases)
- GingivitisHPOHP:0000230
- Occasional (5% to 29% of cases)
- Inflammatory abnormality of the eyeHPOHP:0100533
- Occasional (5% to 29% of cases)
- Liver abscessHPOHP:0100523
- Occasional (5% to 29% of cases)
Genes
6 genes
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.
- CYBAHGNC:2577
- Supportive · Orphanet · Autosomal recessive · 2021
- CYBBHGNC:2578
- Supportive · Orphanet · Autosomal recessive · 2021
- CYBC1HGNC:28672
- Supportive · Orphanet · Autosomal recessive · 2021
- NCF1HGNC:7660
- Supportive · Orphanet · Autosomal recessive · 2021
- NCF2HGNC:7661
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (7)
- granulomatous disease with defect in neutrophil chemotaxis
- granulomatous disease, chronic, autosomal recessive, 5
- granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
- granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
- granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3
- granulomatous disease, chronic, X-linked
Other names
2 names
Resolves to: chronic granulomatous disease
- Also called
- CGDchronic septic granulomatosis