Pulmonary Langerhans cell histiocytosis
Synonyms: Single-system pulmonary Langerhans cell histiocytosis · Single-system pulmonary histiocytosis X · PLCH · Single-system Langerhans cell granulomatosis
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
A form of Langerhans cell histiocytosis characterized by interstitial changes in the lung tissue, manifesting as a variable combination of cellular inflammation, cystic, and fibrotic lesions. Patients can have symptoms like dyspnea, cough and fever but most of them are asymptomatic, and they may undergo spontaneous remission. It is predominantly observed in young smokers or ex-smokers.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary Langerhans cell histiocytosis | Single-system pulmonary Langerhans cell histiocytosis · Single-system pulmonary histiocytosis X · PLCH · Single-system Langerhans cell granulomatosis |
| fr | Histiocytose langerhansienne pulmonaire | Granulomatose à cellules de Langerhans de type pulmonaire · Histiocytose X pulmonaire · Histiocytose à cellules pulmonaires de Langerhans |
| de | Langerhans-Zell-Histiozytose, pulmonale | Histiozytose X, pulmonale · Langerhans-Zell-Granulomatose, pulmonale · PLCH |
| es | Histiocitosis pulmonar de células de Langerhans | Granulomatosis de células de Langerhans monosistémica · HPCL · Histiocitosis pulmonar X monosistémica · Histiocitosis pulmonar de células de Langerhans monosistémica · PLCH |
| it | Pulmonary Langerhans cell histiocytosis | |
| nl | Pulmonale langerhanscelhistiocytose | PLCH · Unisystemische pulmonale histiocytose X · Unisystemische pulmonale langerhanscelgranulomatose · Unisystemische pulmonale langerhanscelhistiocytose |
| pt | Histiocitose pulmonar de células Langerhans | Granulomatose de células Langerhans unissistémica · Histiocitose X pulmonar unissistémica · Histiocitose pulmonar de células Langerhans unissistémica · PLCH |
| pl | Płucna histiocytoza z komórek Langerhansa | = en |
| cs | Plicní histiocytóza z Langerhansových buněk | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C96.5 | NTBT | attributed | not yet 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:389Langerhans cell histiocytosis
rare respiratory diseases; rare hematological diseases; rare systemic and rheumatological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BRAF | Disease-causing somatic mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 22996177[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/687733
- This record as JSON: /data/d/687733.json