ORPHA:3162
Sézary syndrome
Synonyms: Sézary lymphoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adult
- Status
- active
Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sézary syndrome | Sézary lymphoma |
| fr | Syndrome de Sézary | Lymphome de Sézary |
| de | Sézary-Syndrom | Sézary-Lymphom |
| es | Síndrome de Sezary | Linfoma de Sezary |
| it | Sindrome di Sézary | Linfoma di Sézary |
| nl | Syndroom van Sézary | Sézary-lymfoom |
| pt | Síndrome Sezary | Linfoma de Sezary |
| pl | Zespół Sezary'ego | Chłoniak Sézary'ego |
| cs | Sézaryho syndrom | Sézaryho lymfom |
| uk | Синдром Сезарі | Лімфома Сезарі |
| zh | Súzary综合征 | Sézary 淋巴瘤 |
| tr | Sézary sendromu | Sézary lenfoma |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C84.1 | NTBT | attributed | validated |
| ICD-11 | 2B02 | E | specific | validated |
| MONDO | 0017844 | E | validated | |
| MeSH | D012751 | E | validated | |
| UMLS | C0036920 | E | validated | |
| GARD | 7629 | E | validated | |
| MedDRA | 10040493 | 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:178551Aggressive primary cutaneous T-cell lymphoma
rare skin diseases; rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFRSF1B | Disease-causing somatic mutation(s) in | Assessed | HGNC:11917 | ENSG00000028137 | 191191 | 1p36.22 | TNF receptor superfamily member 1B | 26258847[PMID] |
| CD28 | Part of a fusion gene in | Assessed | HGNC:1653 | ENSG00000178562 | 186760 | 2q33.2 | CD28 molecule | 26258847[PMID] |
| CTLA4 | Part of a fusion gene in | Assessed | HGNC:2505 | ENSG00000163599 | 123890 | 2q33.2 | cytotoxic T-lymphocyte associated protein 4 | 26258847[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.02 / 100 000 | United States | Value and class | Validated | 17638728[PMID]_National Cancer OTHERitute[OTHER]_ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.012 / 100 000 | Norway | Value and class | Validated | 18808419[PMID]_ ORPHANET_[EXPERT] |
| 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.
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HPO phenotypes
29 annotations · validated 2024-09-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002843 | Abnormal T cell morphology | |
| HP:0004332 | Abnormal lymphocyte morphology | |
| HP:0012192 | Cutaneous T-cell lymphoma | |
| HP:0000958 | Dry skin | |
| HP:0001019 | Erythroderma | |
| HP:0100725 | Lichenification | |
| HP:0002716 | Lymphadenopathy | |
| HP:0002665 | Lymphoma | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0000989 | Pruritus | |
| Frequent (79-30%) | ||
| HP:0001596 | Alopecia | |
| HP:0002240 | Hepatomegaly | |
| HP:0002721 | Immunodeficiency | |
| HP:0033221 | Increased CD4:CD8 ratio | |
| HP:0008404 | Nail dystrophy | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0010701 | Abnormal immunoglobulin level | |
| HP:0002103 | Abnormality of the pleura | |
| HP:0025143 | Chills | |
| HP:0000656 | Ectropion | |
| HP:0000969 | Edema | |
| HP:0100758 | Gangrene | |
| HP:0002045 | Hypothermia | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0025144 | Shivering | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001337 | Tremor | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 27704468[PMID]_30525758[PMID]_32017375[PMID]_37105561[PMID]_29763049[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3162
- This record as JSON: /data/d/3162.json