ORPHA:3261
Autoimmune lymphoproliferative syndrome
Synonyms: ALPS · Canale-Smith syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune lymphoproliferative syndrome | ALPS · Canale-Smith syndrome |
| fr | Syndrome lymphoprolifératif auto-immun | ALPS · SLAI · Syndrome de Canale-Smith · Syndrome lymphoprolifératif avec auto-immunité |
| de | Autoimmun-lymphoproliferatives Syndrom | ALPS · Canale-Smith-Syndrom · FAS-Mangel |
| es | Síndrome linfoproliferativo autoinmune | ALPS · Síndrome de Canale-Smith |
| it | Sindrome linfoproliferativa autoimmune | ALPS · Sindrome di Canale-Smith |
| nl | Auto-immuun lymfoproliferatief syndroom | ALPS · Syndroom van Canale-Smith |
| pt | Síndrome linfoproliferativo autoimune | ALPS · Síndrome Canale-Smith |
| pl | Autoimmunizacyjny zespół limfoproliferacyjny | ALPS · Niedobór FAS · Zespół Canale'a i Smitha |
| cs | Autoimunitní lymfoproliferativní syndrom | ALPS · FAS deficit · Canaleův-Smithův syndrom · Canale-Smithův syndrom |
| uk | Аутоімунний лімфопроліферативний синдром | ALPS · Синдром Канале-Сміта |
| zh | 自身免疫淋巴增生综合征 | Canale-Smith 综合征 |
| tr | Otoimmün lenfoproliferatif sendrom | ALPLER · Canale-Smith sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601859 | E | validated | |
| OMIM | 603909 | BTNT | validated | |
| OMIM | 618534 | BTNT | validated | |
| ICD-10 | D47.9 | NTBT | attributed | validated |
| ICD-11 | 4A01.22 | NTBT | index | validated |
| MONDO | 0017979 | E | validated | |
| MeSH | D056735 | E | validated | |
| UMLS | C1328840 | E | validated | |
| GARD | 8686 | E | validated | |
| MedDRA | 10069521 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:171898Lymphoid hemopathy
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CASP10 | Disease-causing germline mutation(s) in | Assessed | HGNC:1500 | ENSG00000003400 | 601762 | 2q33.1 | caspase 10 | 20301287[PMID]_10412980[PMID]_17999750[PMID] |
| FAS | Disease-causing germline mutation(s) in | Assessed | HGNC:11920 | ENSG00000026103 | 134637 | 10q23.31 | Fas cell surface death receptor | 22983577[PMID]_21885602[PMID]_20301287[PMID] |
| FASLG | Disease-causing germline mutation(s) in | Assessed | HGNC:11936 | ENSG00000117560 | 134638 | 1q24.3 | Fas ligand | 20301287[PMID]_16627752[PMID]_17605793[PMID] |
| FAS | Disease-causing somatic mutation(s) in | Assessed | HGNC:11920 | ENSG00000026103 | 134637 | 10q23.31 | Fas cell surface death receptor | 22983577[PMID]_21885602[PMID]_20301287[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | 20538792[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20538792[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.
6
HPO phenotypes
72 annotations · validated 2019-04-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0002730 | Chronic noninfectious lymphadenopathy | Diagnostic criterion |
| HP:0002716 | Lymphadenopathy | |
| HP:0001744 | Splenomegaly | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0011117 | Abnormal circulating interleukin concentration | |
| HP:0030886 | Abnormal lymphocyte apoptosis | Diagnostic criterion |
| HP:0001890 | Autoimmune hemolytic anemia | Diagnostic criterion |
| HP:0001973 | Autoimmune thrombocytopenia | Diagnostic criterion |
| HP:0000978 | Bruising susceptibility | |
| HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells | Diagnostic criterion |
| HP:0002240 | Hepatomegaly | |
| HP:0001971 | Hypersplenism | |
| HP:0005404 | Increased B cell count | |
| HP:0003237 | Increased circulating IgG level | |
| HP:0010702 | Increased circulating immunoglobulin concentration | Diagnostic criterion |
| HP:0033199 | Increased circulating interleukin 10 concentration | Diagnostic criterion |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0031392 | Abnormal proportion of CD4 T cells | |
| HP:0031393 | Abnormal proportion of CD8 T cells | |
| HP:0040126 | Abnormal vitamin B12 level | Diagnostic criterion |
| HP:0003453 | Antineutrophil antibody positivity | |
| HP:0003493 | Antinuclear antibody positivity | |
| HP:0003613 | Antiphospholipid antibody positivity | |
| HP:0012191 | B-cell lymphoma | |
| HP:0030080 | Burkitt lymphoma | |
| HP:0004844 | Coombs-positive hemolytic anemia | |
| HP:0004315 | Decreased circulating IgG level | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0032218 | Decreased proportion of CD4-positive T cells | |
| HP:6000017 | Elevated circulating soluble FASL concentration | Diagnostic criterion |
| HP:6000016 | Elevated circulating vitamin B12 concentration | Diagnostic criterion |
| HP:0000099 | Glomerulonephritis | |
| HP:0012115 | Hepatitis | |
| HP:0012189 | Hodgkin lymphoma | |
| HP:0003261 | Increased circulating IgA level | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0034447 | Increased circulating interleukin 18 concentration | Diagnostic criterion |
| HP:0001880 | Increased total eosinophil count | |
| HP:0100827 | Lymphocytosis | |
| HP:0001888 | Lymphopenia | |
| HP:0012539 | Non-Hodgkin lymphoma | |
| HP:0001923 | Reticulocytosis | |
| HP:0002923 | Rheumatoid factor positive | |
| HP:0002848 | Specific anti-polysaccharide antibody deficiency | |
| HP:0012190 | T-cell lymphoma | |
| HP:0100646 | Thyroiditis | |
| HP:0001025 | Urticaria | |
| HP:0002633 | Vasculitis | |
| Very rare (<4-1%) | ||
| HP:0001369 | Arthritis | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0031020 | Bone marrow hypercellularity | |
| HP:0005528 | Bone marrow hypocellularity | |
| HP:0002583 | Colitis | |
| HP:0010619 | Fibroadenoma of the breast | |
| HP:0005263 | Gastritis | |
| HP:0002315 | Headache | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0001789 | Hydrops fetalis | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0100648 | Neoplasm of the tongue | |
| HP:0012490 | Panniculitis | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0011107 | Recurrent aphthous stomatitis | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0002725 | Systemic lupus erythematosus | |
| HP:0000854 | Thyroid adenoma | |
| HP:0002890 | Thyroid carcinoma | |
| HP:0000554 | Uveitis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 15767081[PMID]_11418480[PMID]_9028957[PMID]_8929361[PMID]_7540117[PMID]_1386609[PMID]_4165068[PMID]_20301287[PMID]_30958694[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3261
- This record as JSON: /data/d/3261.json