granulomatous disease, chronic, autosomal recessive, 5
MONDO:0030066Mondo
Findings
No curated finding names granulomatous disease, chronic, autosomal recessive, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
26 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.
- AbscessHPOHP:0025615
- 1 of 1 reported patient
- Decreased neutrophil oxidative burstHPOHP:0003203
- 3 of 3 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
- GranulomaHPOHP:0032252
- 1 of 1 reported patient
- Hemolytic anemiaHPOHP:0001878
- 1 of 1 reported patient
- LymphadenopathyHPOHP:0002716
- 1 of 1 reported patient
- Pleural effusionHPOHP:0002202
- 1 of 1 reported patient
- Recurrent pneumoniaHPOHP:0006532
- 1 of 1 reported patient
- Recurrent tonsillitisHPOHP:0011110
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- SplenomegalyHPOHP:0001744
- 1 of 1 reported patient
Show the remaining 14
- Crohn's diseaseHPOHP:0100280
- 4 of 8 reported patients
- Acute pancreatitisHPOHP:0001735
- 2 of 8 reported patients
- Anal fissureHPOHP:0012390
- 2 of 8 reported patients
- Perianal abscessHPOHP:0009789
- 2 of 8 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 1 of 8 reported patients
- HepatosplenomegalyHPOHP:0001433
- 1 of 8 reported patients
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.
- CYBC1HGNC:28672
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: granulomatous disease, chronic, autosomal recessive, 5
- Also called
- CGD5chronic granulomatous disease 5, autosomal recessiveGranulomatous Disease, Chronic, Due to Cybc1 Deficiency