Overhydrated hereditary stomatocytosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
STOMATOCYTOSIS I POTASSIUM-SODIUM DISORDER OF ERYTHROCYTE OHS |
| Number of Symptoms | 8 |
| OrphanetNr: | 3203 |
| OMIM Id: |
185000
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| ICD-10: |
D58.8 |
| 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: | 20 families [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Stomatocytosis
-Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0005502) | Increased red cell osmotic fragility | 5 / 7739 | ||||
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(HPO:0001878) | Hemolytic anemia | 83 / 7739 | ||||
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(HPO:0004446) | Stomatocytosis | 11 / 7739 | ||||
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(HPO:0003575) | Increased intracellular sodium | 1 / 7739 | ||||
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(OMIM) | Erythrocytes uniconcave with slitlike rather than circular area of central pallor in stained preparations | 1 / 7739 | ||||
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(OMIM) | Shortened erythrocyte survival | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Absent 28-kD integral protein from red cell membranes | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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