SOLUTE CARRIER FAMILY 4 (ANION EXCHANGER), MEMBER 1
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 8 |
OrphanetNr: | |
OMIM Id: |
109270
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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:0001744) | Splenomegaly | 337 / 7739 | ||||
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(HPO:0005502) | Increased red cell osmotic fragility | 5 / 7739 | ||||
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(HPO:0004445) | Elliptocytosis | 15 / 7739 | ||||
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(HPO:0004446) | Stomatocytosis | 11 / 7739 | ||||
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(HPO:0001923) | Reticulocytosis | 28 / 7739 | ||||
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(HPO:0001927) | Acanthocytosis | 11 / 7739 | ||||
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(HPO:0002904) | Hyperbilirubinemia | 32 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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