Chronic beryllium disease
Synonyms: Berylliosis · Chronic berylliosis · Chronic beryllium lung disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A pneumoconiosis, characterized by granulomatous inflammation, that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic beryllium disease | Berylliosis · Chronic berylliosis · Chronic beryllium lung disease |
| fr | Bérylliose chronique | Bérylliose · Bérylliose pulmonaire chronique |
| de | Beryllium-Krankheit, chronische | Berylliose · Berylliose, chronische · Chronische Beryllium-Lungenkrankheit |
| es | Enfermedad crónica por berilio | Beriliosis · Beriliosis crónica · Enfermedad pulmonar crónica por berilio |
| it | Malattia cronica da berillio | Berilliosi cronica · Pneumopatia cronica da berillio · Berilliosi |
| nl | Chronische berylliumziekte | Berylliose · Chronische berylliose · Chronische berylliumlongziekte |
| pt | Doença crónica por berílio | |
| pl | Przewlekla choroba berylowa | Beryloza · Przewlekła beryloza · Przewlekła beryloza płuc |
| cs | Berylióza | Chronická berylióza · Chronická berylióza plic · Otrava beryliem · Intoxikace beryliem · Beryliová granulomatóza |
| uk | Хронічна берилієва хвороба | Бериліоз · Хронічний бериліоз · Хронічна берилієва хвороба легень |
| zh | 慢性铍病 | 慢性肺尘肺病 |
| tr | Kronik berilyum hastalığı | Berilyoz · Kronik berilyoz · Kronik berilyum akciğer hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | J63.2 | E | specific | validated |
| ICD-11 | CA60.6 | E | specific | validated |
| MONDO | 0015274 | E | validated | |
| MeSH | D001607 | E | validated | |
| UMLS | C0221052 | E | validated | |
| GARD | 867 | E | validated | |
| MedDRA | 10004485 | 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:182098Pneumoconiosis
rare respiratory diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HLA-DPB1 | Major susceptibility factor in | Assessed | HGNC:4940 | ENSG00000223865 | 142858 | 6p21.32 | major histocompatibility complex, class II, DP beta 1 | 22972925[PMID] |
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
19 annotations · validated 2021-07-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002795 | Abnormal respiratory system physiology | |
| HP:0006516 | Hypersensitivity pneumonitis | |
| HP:0100326 | Immunologic hypersensitivity | |
| Frequent (79-30%) | ||
| HP:0031392 | Abnormal proportion of CD4 T cells | |
| HP:0005607 | Abnormal tracheobronchial morphology | |
| HP:0030878 | Abnormality on pulmonary function testing | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0025179 | Ground-glass opacification on pulmonary HRCT | |
| HP:0006527 | Lymphocytic interstitial pneumonia | |
| HP:0025439 | Pharyngitis | |
| HP:0030877 | Reduced FEV1/FVC ratio | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0025393 | Reticulonodular pattern on pulmonary HRCT | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0100721 | Mediastinal lymphadenopathy | |
| HP:0002206 | Pulmonary fibrosis | |
| Very rare (<4-1%) | ||
| HP:0011121 | Abnormal skin morphology | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20981472[PMID]_32768458[PMID]_25007084[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/133
- This record as JSON: /data/d/133.json