IMMUNODEFICIENCY 17
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 8 |
OrphanetNr: | |
OMIM Id: |
615607
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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: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0002242) | Abnormality of the intestine | rare [HPO:skoehler] | 42 / 7739 | |||
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(HPO:0001508) | Failure to thrive | rare [HPO:skoehler] | 454 / 7739 | |||
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(HPO:0000964) | Eczema | 81 / 7739 | ||||
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(HPO:0001890) | Autoimmune hemolytic anemia | rare [HPO:skoehler] | 17 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | 254 / 7739 | ||||
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(HPO:0002721) | Immunodeficiency | 97 / 7739 | ||||
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(HPO:0003828) | Variable expressivity | 130 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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