Cytoscape Web
Click node...

Chronic granulomatous disease
6 OMIM references -
5 associated genes
41 connected diseases
25 signs/symptoms
Disease Type of connection
X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
Baraitser-Winter syndrome
Autoimmune lymphoproliferative syndrome
Developmental malformations - deafness - dystonia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Neutrophil immunodeficiency syndrome
Autosomal recessive systemic lupus erythematosus
Common variable immunodeficiency
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Anaplastic ependymoma
X-linked epilepsy - learning disabilities - behavior disorders
Chuvash erythrocytosis
Von Hippel-Lindau disease
22q11.2 deletion syndrome
Bernard-Soulier syndrome
Fetal and neonatal alloimmune thrombocytopenia
Auriculocondylar syndrome
Bleeding diathesis due to glycoprotein VI deficiency
Burkitt lymphoma
Carnitine palmitoyl transferase 1A deficiency
Constitutional mismatch repair deficiency syndrome
Digitotalar dysmorphism
Familial isolated dilated cardiomyopathy
Familial thoracic aortic aneurysm and aortic dissection
Glycogen storage disease due to acid maltase deficiency, adult onset
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, juvenile onset
Hereditary nonpolyposis colon cancer
Left ventricular noncompaction
Lethal congenital contracture syndrome type 3
Moyamoya disease
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Precursor T-cell acute lymphoblastic leukemia
Cowden syndrome
Proteus syndrome
Severe combined immunodeficiency due to CORO1A deficiency
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Synonym(s):
- Chronic septic granulomatosis
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare immune disease
- Rare respiratory disease
- Rare skin disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
6 OMIM references -
1 MeSH reference: D006105
Very frequent
- Autosomal recessive inheritance
- Chronic obstructive pulmonary disease / COPD / obstructive respiratory syndrome
- Chronic / relapsing otitis
- Fever / chilling
- Gastric / pyloric stenosis
- Hepatomegaly / liver enlargement (excluding storage disease)
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Macules
- Malabsorption / chronic diarrhea / steatorrhea
- Mediastinal / hilar adenopathies
- Nasal congestion / sinusitis / rhinitis / rhinorrhea
- Polynuclear cells / neutrophils anomalies / neutropenia
- Repeat respiratory infections
- Skin photosensitivity
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Urticaria
- X-linked recessive inheritance

Occasional
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Eczema
- Gingivitis
- Liver / hepatic abscess
- Meningitis / meningeal syndrome
- Sepsis severe / septicemia
- Splenomegaly