PSEUDOHYPERKALEMIA CARDIFF
General Information (adopted from Orphanet):
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Synonyms, Signs:
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CRYOHYDROCYTOSIS
STOMATOCYTOSIS, COLD-SENSITIVE
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Number of Symptoms
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4
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OrphanetNr:
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OMIM Id:
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185020
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0004446)
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Stomatocytosis |
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11 / 7739
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2
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(HPO:0001878)
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Hemolytic anemia |
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83 / 7739
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3
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(OMIM)
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Cold-sensitive hemolysis prevented by reduced pH or increased ATP |
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1 / 7739
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4
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(OMIM)
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Increased autohemolysis and increased osmotic fragility at 5 degrees compared to 37 degrees C |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |