ORPHA:379
Chronic granulomatous disease
Synonyms: CGD · Chronic septic granulomatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic granulomatous disease | CGD · Chronic septic granulomatosis |
| fr | Granulomatose chronique | CGD · Granulomatose septique chronique |
| de | Granulomatose, chronische | CGD · Chronische septische Granulomatose |
| es | Enfermedad granulomatosa crónica | CGD · Granulomatosis séptica crónica |
| it | Malattia granulomatosa cronica | CGD · Granulomatosi settica cronica |
| nl | Chronische granulomateuze ziekte | CGD · Chronische septische granulomatose |
| pt | Doença granulomatosa crónica | |
| pl | Przewlekła choroba ziarniniakowa | CGD · Przewlekła septyczna choroba ziarniniakowa |
| cs | Chronická granulomatóza | CGD · Chronická septická granulomatóza · Chronická granulomatózní choroba |
| uk | Хронічна гранулематозна хвороба | CGD · Хронічний септичний гранулематоз |
| zh | 慢性肉芽肿病 | 慢性脓毒性肉芽肿病 |
| tr | Kronik granülomatöz hastalığı | CGD · Kronik septik granülomatoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 233690 | BTNT | validated | |
| OMIM | 233700 | BTNT | validated | |
| OMIM | 233710 | BTNT | validated | |
| OMIM | 306400 | BTNT | validated | |
| OMIM | 613960 | BTNT | validated | |
| OMIM | 618935 | BTNT | validated | |
| ICD-10 | D71 | NTBT | inclusion | validated |
| ICD-11 | 4A00.0Y | NTBT | index | validated |
| MONDO | 0018305 | E | validated | |
| MeSH | D006105 | E | validated | |
| UMLS | C0018203 | E | validated | |
| GARD | 6100 | E | validated | |
| MedDRA | 10008906 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:674896Non-syndromic congenital phagocyte functional defect
rare genetic diseases; rare immunological diseases - ORPHA:522504Rare genetic disorder of the visual organs
rare genetic diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:264714Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
rare respiratory diseases; rare transplant-related disorders - ORPHA:280926Systemic diseases with anterior uveitis
rare ophthalmic disorders - ORPHA:280933Systemic diseases with panuveitis
rare ophthalmic disorders - ORPHA:280930Systemic diseases with posterior uveitis
rare ophthalmic disorders
No children.
4
Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYBC1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28672 | ENSG00000178927 | 618334 | 17q25.3 | cytochrome b-245 chaperone 1 | 30361506[PMID] |
| CYBA | Disease-causing germline mutation(s) in | Assessed | HGNC:2577 | ENSG00000051523 | 608508 | 16q24.2 | cytochrome b-245 alpha chain | 22876374[PMID] |
| CYBB | Disease-causing germline mutation(s) in | Assessed | HGNC:2578 | ENSG00000165168 | 300481 | Xp21.1-p11.4 | cytochrome b-245 beta chain | 22876374[PMID] |
| NCF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7660 | ENSG00000158517 | 608512 | 7q11.23 | neutrophil cytosolic factor 1 | 22876374[PMID] |
| NCF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7661 | ENSG00000116701 | 608515 | 1q25.3 | neutrophil cytosolic factor 2 | 22876374[PMID] |
| NCF4 | Disease-causing germline mutation(s) in | Assessed | HGNC:7662 | ENSG00000100365 | 601488 | 22q12.3 | neutrophil cytosolic factor 4 | 22876374[PMID] |
5
Prevalence and incidence
27 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.46 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Worldwide | Class only | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | United States | Value and class | Validated | 10844935[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | United States | Class only | Not yet validated | 10844935[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 / 100 000 | United Kingdom | Value and class | Validated | 18410635[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | United Kingdom | Class only | Validated | 18410635[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.57 / 100 000 | France | Value and class | Validated | 20700078[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | France | Class only | Validated | 20700078[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.22 / 100 000 | Sweden | Value and class | Validated | 8645957[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Sweden | Class only | Validated | 8645957[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Italy | Value and class | Validated | 18037347[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Italy | Class only | Validated | 18037347[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Denmark | Value and class | Validated | 18708296[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Denmark | Class only | Validated | 18708296[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.48 / 100 000 | Netherlands | Value and class | Validated | 18708296[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Netherlands | Class only | Validated | 18708296[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.08 / 100 000 | Australia | Value and class | Validated | 9314356[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.35 / 100 000 | Japan | Value and class | Validated | 10530081[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Japan | Class only | Validated | 10530081[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 / 100 000 | Korea, Republic of | Value and class | Validated | 22787376[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Korea, Republic of | Class only | Validated | 22787376[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.99 / 100 000 | Latin America | Value and class | Validated | 17191150[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Latin America | Class only | Validated | 17191150[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.53 / 100 000 | Israel | Value and class | Validated | 18708296[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Israel | Class only | Validated | 18708296[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001874 | Abnormality of neutrophils | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0001945 | Fever | |
| HP:0002240 | Hepatomegaly | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0012733 | Macule | |
| HP:0002024 | Malabsorption | |
| HP:0100721 | Mediastinal lymphadenopathy | |
| HP:0000388 | Otitis media | |
| HP:0002021 | Pyloric stenosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000246 | Sinusitis | |
| HP:0002575 | Tracheoesophageal fistula | |
| Occasional (29-5%) | ||
| HP:0000964 | Eczematoid dermatitis | |
| HP:0000230 | Gingivitis | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0100523 | Liver abscess | |
| HP:0001287 | Meningitis | |
| HP:0100806 | Sepsis | |
| HP:0200042 | Skin ulcer | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/379
- This record as JSON: /data/d/379.json