Susceptibility to chronic infection by Epstein-Barr virus
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 8 |
OrphanetNr: | 2566 |
OMIM Id: |
226990
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Rare viral disease
-Rare infectious disease |
Symptom Information:
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(HPO:0000246) | Sinusitis | 73 / 7739 | ||||
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(HPO:0001744) | Splenomegaly | 337 / 7739 | ||||
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(HPO:0001945) | Fever | 218 / 7739 | ||||
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(HPO:0002110) | Bronchiectasis | 73 / 7739 | ||||
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(HPO:0002090) | Pneumonia | 59 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Variable deficiency of natural killer-cell activity | 1 / 7739 | ||||
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(OMIM) | Full spectrum and titer of antibodies to EBV | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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