THROMBOCYTOPENIA WITH ELEVATED SERUM IgA AND RENAL DISEASE
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 7 |
OrphanetNr: | |
OMIM Id: |
314000
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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: |
X-linked inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000790) | Hematuria | 106 / 7739 | ||||
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(HPO:0000112) | Nephropathy | 92 / 7739 | ||||
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(HPO:0000099) | Glomerulonephritis | 13 / 7739 | ||||
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(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
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(HPO:0001892) | Abnormal bleeding | 85 / 7739 | ||||
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(HPO:0003261) | Increased IgA level | 12 / 7739 | ||||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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