ORPHA:687730
Unifocal Langerhans cell histiocytosis
Synonyms: Unifocal Langerhans cell granulomatosis · Unifocal histiocytosis X
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Unifocal Langerhans cell histiocytosis | Unifocal Langerhans cell granulomatosis · Unifocal histiocytosis X |
| fr | Histiocytose langerhansienne unifocale | Granulomatose à cellules de Langerhans unifocale · Histiocytose X unifocale |
| de | Langerhans-Zell-Histiozytose, unifokale | Histiozytose X, unifokale · Langerhans-Zell-Granulomatose, unifokale |
| es | Histiocitosis de células de Langerhans unifocal | Granulomatosis de células de Langerhans unifocal · Histiocitosis X unifocal |
| it | Unifocal Langerhans cell histiocytosis | |
| nl | Unifocale langerhanscelhistiocytose | Unifocale histiocytose X · Unifocale langerhanscelgranulomatose |
| pt | Histiocitose unifocal de células Langerhans | Granulomatose unifocal de células Langerhans · Histiocitose X unifocal |
| pl | Jednoogniskowa histiocytoza z komórek Langerhansa | = en |
| cs | Unifokální histiocytóza z Langerhansových buněk | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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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.
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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] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/687730
- This record as JSON: /data/d/687730.json