ORPHA:389
Langerhans cell histiocytosis
Synonyms: Histiocytosis X · Langerhans cell granulomatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- All ages
- Status
- active
A rare systemic disease characterized by the accumulation (usually organized in granulomas) of macrophage, bearing the features of Langerhans cells in various tissues.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Langerhans cell histiocytosis | Histiocytosis X · Langerhans cell granulomatosis |
| fr | Histiocytose langerhansienne | Granulomatose à cellules de Langerhans · Histiocytose X |
| de | Langerhans-Zell-Histiozytose | Histiozytose X · Langerhans-Zell-Granulomatose |
| es | Histiocitosis de células de Langerhans | Granulomatosis de células de Langerhans |
| it | Istiocitosi a cellule di Langerhans | Granulomatosi a cellule di Langerhans · Istiocitosi X |
| nl | Langerhanscelhistiocytose | Histiocytose X · Langerhanscelgranulomatose |
| pt | Histiocitose de células de Langerhans | Granulomatose de células de Langerhans · Histiocitose X |
| pl | Histiocytoza z komórek Langerhansa | Histiocytoza X · Ziarniniakowatość komórek Langerhansa |
| cs | Hystiocytóza z Langerhansových buněk | Histiocytóza X · Granulomatóza z Langerhansových buněk |
| uk | Гістіоцитоз клітин Лангерганса | Гістіоцитоз X · Гранулематоз з клітинами Лангерганса |
| zh | 朗格罕细胞组织细胞增生症 | 朗格汉斯细胞肉芽肿病 |
| tr | Langerhans hücreli histiyositoz | Histiyositoz X · Langerhans hücreli granülomatoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604856 | E | validated | |
| ICD-10 | C96.0 | BTNT | specific | validated |
| ICD-10 | C96.5 | BTNT | specific | validated |
| ICD-10 | C96.6 | BTNT | specific | validated |
| ICD-11 | 2B31.2 | E | specific | validated |
| ICD-11 | 2B31.20 | BTNT | specific | validated |
| ICD-11 | 2B31.2Y | BTNT | attributed | validated |
| MONDO | 0018310 | E | validated | |
| MeSH | D006646 | E | validated | |
| UMLS | C0019621 | E | validated | |
| GARD | 6858 | E | validated | |
| MedDRA | 10069698 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98289Dendritic cell tumor
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101944Rare pulmonary disease
rare respiratory diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:99870OBSOLETE: Letterer-Siwe disease referred to · inactive
- ORPHA:99871OBSOLETE: Eosinophilic granuloma referred to · inactive
- ORPHA:99872OBSOLETE: Hashimoto-Pritzker syndrome referred to · inactive
- ORPHA:99873OBSOLETE: Hand-Schüller-Christian disease referred to · inactive
- ORPHA:99874OBSOLETE: Adult pulmonary Langerhans cell histiocytosis referred to · inactive
- ORPHA:264724OBSOLETE: Langerhans cell histiocytosis specific to childhood referred to · inactive
- ORPHA:264750OBSOLETE: Langerhans cell histiocytosis specific to adulthood referred to · inactive
- ORPHA:264955OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood referred to · inactive
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Genes
2 direct · 4 via subtypes| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAP2K1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6840 | ENSG00000169032 | 176872 | 15q22.31 | mitogen-activated protein kinase kinase 1 | 26980021[PMID] |
| NRAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:7989 | ENSG00000213281 | 164790 | 1p13.2 | NRAS proto-oncogene, GTPase | 27076591[PMID] |
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| BRAF | ORPHA:687730Unifocal Langerhans cell histiocytosis | Disease-causing somatic mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 22996177[PMID] |
| BRAF | ORPHA:687733Pulmonary Langerhans cell histiocytosis | Disease-causing somatic mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 22996177[PMID] |
| BRAF | ORPHA:687738Single-system multifocal Langerhans cell histiocytosis | Disease-causing somatic mutation(s) in | Assessed | HGNC:1097 | ENSG00000157764 | 164757 | 7q34 | B-Raf proto-oncogene, serine/threonine kinase | 22996177[PMID] |
| BRAF | ORPHA:687741Multisystem Langerhans cell histiocytosis | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
27 annotations · validated 2024-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002653 | Bone pain | |
| HP:0002797 | Osteolysis | |
| Frequent (79-30%) | ||
| HP:0012735 | Cough | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0001945 | Fever | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0000988 | Skin rash | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0001251 | Ataxia | |
| HP:0000873 | Diabetes insipidus | |
| HP:0001260 | Dysarthria | |
| HP:0003249 | Genital ulcers | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0001882 | Leukopenia | |
| HP:0001268 | Mental deterioration | |
| HP:0000155 | Oral ulcer | |
| HP:0034769 | Pulmonary Langerhans cell histiocytosis | |
| HP:0034323 | Reduced circulating growth hormone concentration | |
| HP:0002108 | Spontaneous pneumothorax | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0001399 | Hepatic failure | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0030991 | Sclerosing cholangitis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32106306[PMID]_29754885[PMID]_27273725[PMID]_34105821[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/389
- This record as JSON: /data/d/389.json