GRANULOMATOUS DISEASE, CHRONIC, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, VARIANT, INCLUDED
CHRONIC GRANULOMATOUS DISEASE, ATYPICAL, INCLUDED
CGD
CHRONIC GRANULOMATOUS DISEASE, X-LINKED CYTOCHROME b-POSITIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED, INCLUDED
CYTOCHROME b-NEGATIVE GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
Number of Symptoms 43
OrphanetNr:
OMIM Id: 306400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002755) Osteomyelitis due to immunodeficiency 5 / 7739
2
 (HPO:0005224) Rectal abscess 10 / 7739
3
 (HPO:0001400) Hepatic abscesses due to immunodeficiency 4 / 7739
4
 (HPO:0002240) Hepatomegaly 467 / 7739
5
 (HPO:0001744) Splenomegaly 337 / 7739
6
 (HPO:0007417) Discoid lupus erythematosus 6 / 7739
7
 (HPO:0000976) Eczematoid dermatitis 22 / 7739
8
 (HPO:0005406) Recurrent bacterial skin infections 7 / 7739
9
 (HPO:0003203) Negative nitroblue tetrazolium reduction test 4 / 7739
10
 (HPO:0002955) Granulomatosis 6 / 7739
11
 (HPO:0002723) Absence of bactericidal oxidative 'respiratory burst' in phagocytes 4 / 7739
12
 (HPO:0003514) Deficiency or absence of cytochrome b(-245) 2 / 7739
13
 (HPO:0003206) Decreased activity of NADPH oxidase 8 / 7739
14
 (HPO:0006532) Recurrent pneumonia 48 / 7739
15
 (HPO:0002740) Recurrent E. coli infections 4 / 7739
16
 (HPO:0002726) Recurrent Staphylococcus aureus infections 5 / 7739
17
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
18
 (HPO:0002716) Lymphadenopathy 129 / 7739
19
 (HPO:0002841) Recurrent fungal infections 16 / 7739
20
 (HPO:0003553) Cellulitis due to immunodeficiency 4 / 7739
21
 (HPO:0002741) Recurrent Serratia marcescens infections 4 / 7739
22
 (HPO:0002842) Recurrent Burkholderia cepacia infections 4 / 7739
23
 (HPO:0002742) Recurrent Klebsiella infections 4 / 7739
24
 (HPO:0002724) Recurrent Aspergillus infections 4 / 7739
25
 (HPO:0002840) Lymphadenitis 7 / 7739
26
 (OMIM) Serratia marcescens infections 4 / 7739
27
 (MedDRA:10003486) Aspergillus infections 4 / 7739
28
 (OMIM) Deficiency or absence of p91-phox (300481) protein 2 / 7739
29
 (OMIM) Discoid lupus in carriers or adults with mild disease 4 / 7739
30
 (OMIM) Dermatitis, infectious, due to immunodeficiency Impetigo 3 / 7739
31
 (OMIM) Staphylococcus aureus infections 4 / 7739
32
 (HPO:0003621) Juvenile onset 105 / 7739
33
 (OMIM) Perirectal abscesses due to immunodeficiency 4 / 7739
34
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
35
 (OMIM) Biopsy shows lipid-laden macrophages 4 / 7739
36
 (OMIM) Deficiency or absence of p22-phox (608508) protein 2 / 7739
37
 (MedDRA:10023455) Klebsiella infections 4 / 7739
38
 (OMIM) Abscess formation in any organ 4 / 7739
39
 (OMIM) Pneumonia due to immunodeficiency 4 / 7739
40
 (OMIM) Tissue biopsy shows granulomas 4 / 7739
41
 (OMIM) Burkholderia cepacia infections 4 / 7739
42
 (MedDRA:10061259) Klebsiella infection 4 / 7739
43
 (MedDRA:10074171) Aspergillus infection 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase ...
Clinical Description OMIM Dinauer et al. (2001) suggested that Janeway et al. (1954) first noted CGD in a patient with hypergammaglobulinemia associated with severe recurrent and chronic nonspecific infections, but did not distinguish the disorder as a distinct entity. Berendes et ...
Molecular genetics OMIM In a patient with cytochrome b-positive X-linked CGD, Dinauer et al. (1989) identified a mutation in the gene encoding the cytochrome b heavy chain (CYBB; 300481.0001). In 6 patients with X-linked CGD, both cytochrome b-negative and cytochrome b-positive ...