Autoimmune lymphoproliferative syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ALPS FAS deficiency Canale-Smith syndrome |
| Number of Symptoms | 27 |
| OrphanetNr: | 3261 |
| OMIM Id: |
601859
603909 614470 |
| ICD-10: |
D72.8 |
| UMLs: |
C1328840 |
| MeSH: |
D056735 |
| MedDRA: |
10069521 |
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | > 500 cases [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Immunodeficiency syndrome with autoimmunity
-Rare genetic disease -Rare immune disease Lymphoid hemopathy -Rare hematologic disease -Rare oncologic disease Lymphoproliferative syndrome -Rare genetic disease -Rare immune disease -Rare oncologic disease |
Symptom Information:
|
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(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
|
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(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
|
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(HPO:0001025) | Urticaria | 73 / 7739 | ||||
|
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(HPO:0002633) | Vasculitis | 12 / 7739 | ||||
|
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(HPO:0004844) | Coombs-positive hemolytic anemia | 5 / 7739 | ||||
|
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(HPO:0003237) | Increased IgG level | 5 / 7739 | ||||
|
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(HPO:0003261) | Increased IgA level | 12 / 7739 | ||||
|
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(HPO:0001880) | Eosinophilia | 35 / 7739 | ||||
|
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(HPO:0002853) | Increased proportion of HLA DR+ and CD57+ T cells | 3 / 7739 | ||||
|
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(HPO:0001891) | Iron deficiency anemia | 22 / 7739 | ||||
|
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(HPO:0003496) | Increased IgM level | 8 / 7739 | ||||
|
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(HPO:0001973) | Autoimmune thrombocytopenia | 18 / 7739 | ||||
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(HPO:0001904) | Autoimmune neutropenia | 5 / 7739 | ||||
|
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(HPO:0002845) | Increased number of peripheral CD3+ T cells | 3 / 7739 | ||||
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(HPO:0002972) | Reduced delayed hypersensitivity | 7 / 7739 | ||||
|
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(HPO:0002731) | Decreased lymphocyte apoptosis | 4 / 7739 | ||||
|
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(HPO:0001890) | Autoimmune hemolytic anemia | 17 / 7739 | ||||
|
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(HPO:0002851) | Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors | 3 / 7739 | ||||
|
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(HPO:0003453) | Antineutrophil antibody positivity | 3 / 7739 | ||||
|
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(HPO:0002730) | Chronic noninfectious lymphadenopathy | 3 / 7739 | ||||
|
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(HPO:0002923) | Rheumatoid factor positive | 5 / 7739 | ||||
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(HPO:0003262) | Smooth muscle antibody positivity | 3 / 7739 | ||||
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(HPO:0003454) | Platelet antibody positive | 4 / 7739 | ||||
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(HPO:0003613) | Antiphospholipid antibody positivity | 4 / 7739 | ||||
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(HPO:0002729) | Follicular hyperplasia | 5 / 7739 | ||||
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(HPO:0003493) | Antinuclear antibody positivity | 15 / 7739 | ||||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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