Aspergillosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare infectious disease caused by inhalation of the opportunistic fungus <i>aspergillus</i> that can lead to the following manifestations: allergic bronchopulmonary aspergillosis (ABPA), aspergilloma, chronic necrotizing pulmonary aspergillosis (CNPA), and invasive aspergillosis (IA). Aspergilloma occurs in patients with cavitary lung disease and results in a fungal mass with variable clinical presentations from asymptomatic to life-threatening (massive hemoptysis). CNPA manifests as subacute pneumonia in patients with underlying disease. IA is disseminated aspergillosis that eventually invades other organs. Cutaneous aspergillosis is usually the dermatological manifestation of IA that manifests as erythematous-to-violaceous plaques or papules, often characterized by a central necrotic ulcer or eschar.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aspergillosis | |
| fr | Aspergillose | |
| de | Aspergillose | |
| es | Aspergilosis | |
| it | Aspergillosi | |
| nl | Aspergillose | |
| pt | Aspergilose | |
| pl | Aspergiloza | |
| cs | Aspergilóza | |
| uk | Аспергільоз | |
| zh | 曲霉菌病 | |
| tr | Aspergilloz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614079 | BTNT | validated | |
| ICD-10 | B44.0 | BTNT | specific | validated |
| ICD-10 | B44.1 | BTNT | specific | validated |
| ICD-10 | B44.2 | BTNT | specific | validated |
| ICD-10 | B44.7 | BTNT | specific | validated |
| ICD-10 | B44.8 | BTNT | specific | validated |
| ICD-10 | B44.9 | BTNT | specific | validated |
| ICD-11 | 1F20 | E | specific | validated |
| ICD-11 | 1F20.0 | BTNT | specific | validated |
| ICD-11 | 1F20.1 | BTNT | specific | validated |
| MONDO | 0005657 | E | validated | |
| MeSH | D001228 | E | validated | |
| UMLS | C0004030 | E | validated | |
| GARD | 5856 | E | validated | |
| MedDRA | 10003488 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:163591Rare mycosis
rare infectious diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
56 annotations · validated 2020-04-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012735 | Cough | |
| HP:0020153 | Positive blood 1,3 beta glucan test | |
| Frequent (79-30%) | ||
| HP:0032016 | Abnormal sputum | |
| HP:0030878 | Abnormality on pulmonary function testing | |
| HP:0100749 | Chest pain | |
| HP:0006528 | Chronic lung disease | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0001945 | Fever | |
| HP:0025179 | Ground-glass opacification on pulmonary HRCT | |
| HP:0002105 | Hemoptysis | |
| HP:0002721 | Immunodeficiency | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0032177 | Parenchymal consolidation | |
| HP:0002113 | Pulmonary infiltrates | |
| Occasional (29-5%) | ||
| HP:0002031 | Abnormal esophagus morphology | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0002099 | Asthma | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0000620 | Dacryocystitis | |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations | |
| HP:0002094 | Dyspnea | |
| HP:0002315 | Headache | |
| HP:0004377 | Hematological neoplasm | |
| HP:0012115 | Hepatitis | |
| HP:0006516 | Hypersensitivity pneumonitis | |
| HP:0100326 | Immunologic hypersensitivity | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0020103 | Invasive pulmonary aspergillosis | |
| HP:0000491 | Keratitis | |
| HP:0011355 | Localized skin lesion | |
| HP:0001742 | Nasal congestion | |
| HP:0200026 | Ocular pain | |
| HP:0002102 | Pleuritis | |
| HP:0002090 | Pneumonia | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0031417 | Rhinorrhea | |
| HP:0000246 | Sinusitis | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0005607 | Abnormal tracheobronchial morphology | |
| HP:0011314 | Abnormality of long bone morphology | |
| HP:0002693 | Abnormality of the skull base | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0002110 | Bronchiectasis | |
| HP:0004302 | Functional motor deficit | |
| HP:0002383 | Infectious encephalitis | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0001287 | Meningitis | |
| HP:0002754 | Osteomyelitis | |
| HP:0000629 | Periorbital fullness | |
| HP:0002202 | Pleural effusion | |
| HP:0001250 | Seizure | |
| HP:0001297 | Stroke | |
| HP:0011450 | Unusual CNS infection | |
| HP:0011531 | Vitritis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 21881144[PMID]_26897064[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1163
- This record as JSON: /data/d/1163.json