SPECTRIN, BETA, ERYTHROCYTIC
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 7 |
OrphanetNr: | |
OMIM Id: |
182870
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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:0000952) | Jaundice | 105 / 7739 | ||||
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(HPO:0004444) | Spherocytosis | 6 / 7739 | ||||
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(HPO:0004839) | Pyropoikilocytosis | 2 / 7739 | ||||
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(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
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(HPO:0004445) | Elliptocytosis | 15 / 7739 | ||||
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(HPO:0002904) | Hyperbilirubinemia | 32 / 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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