ORPHA:2442
X-linked lymphoproliferative disease
Synonyms: Duncan disease · Purtilo syndrome · XLP
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked lymphoproliferative disease | Duncan disease · Purtilo syndrome · XLP |
| fr | Maladie lymphoproliférative liée à l'X | Maladie de Duncan · Syndrome de Purtilo · XLP |
| de | Lymphoproliferative Krankheit, X-chromosomale | X-chromosomales lymphoproliferatives Syndrom |
| es | Enfermedad linfoproliferativa ligada al cromosoma X | Enfermedad de Duncan · Síndrome de Purtilo · XLP |
| it | Malattia linfoproliferativa legata all'X | Malattia di Duncan · Sindrome di Purtilo · XLP |
| nl | X-gebonden lymfoproliferatieve aandoening | Purtilosyndroom · XLP · Ziekte van Duncan |
| pt | Doença linfoproliferativa ligada ao X | Doença de Duncan · Síndrome Purtilo · XLP |
| pl | Choroba limfoproliferacyjna sprzężona z chromosomem X | Choroba Duncana · XLP · Zespół Purtilo |
| cs | X-vázaný lymfoproliferativní syndrom | Duncanova nemoc · XLP · Purtilův syndrom |
| uk | Х-зчеплене лімфопроліферативне захворювання | Хвороба Дункана · Синдром Пуртіло · XLP |
| zh | X连锁淋巴增殖性疾病 | Purtilo综合征 |
| tr | X'e bağlı lenfoproliferatif hastalık | XLP · Duncan hastalığı · Purtilo sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300635 | BTNT | validated | |
| OMIM | 308240 | BTNT | validated | |
| ICD-11 | 4A01.22 | NTBT | index | validated |
| MONDO | 0010627 | E | validated | |
| MONDO | 10627 | E | validated | |
| MeSH | D008232 | E | validated | |
| UMLS | C0549463 | E | validated | |
| GARD | 10915 | E | validated | |
| MedDRA | 10068348 | 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 (1):
- ORPHA:664734EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature
rare genetic diseases; rare immunological diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.05 / 100 000 | Europe | Value and class | Validated | 20301580[PMID]_[EXPERT] |
| Point prevalence | <1 / 1 000 000 | 0.0347 / 100 000 | China | Value and class | Validated | 34103049[PMID] |
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
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/2442
- This record as JSON: /data/d/2442.json