Anemia due to adenosine triphosphatase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 4 |
| OrphanetNr: | 1044 |
| OMIM Id: |
102800
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| ICD-10: |
D55.3 |
| 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: |
Autosomal dominant [Orphanet] |
| Age of onset: |
No data available [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of purine metabolism
-Rare genetic disease Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder -Rare genetic disease -Rare hematologic disease |
Symptom Information:
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(HPO:0001930) | Nonspherocytic hemolytic anemia | Rare [HPO:skoehler] | 10 / 7739 | |||
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(OMIM) | Infrequent nonspherocytic hemolytic anemia | 1 / 7739 | ||||
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(OMIM) | ATP-ase deficiency | 1 / 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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Additional Information:
| Clinical Description OMIM | In 2 kindreds Harvald et al. (1964) observed nonspherocytic hemolytic anemia due to deficiency of ATP-ase. At least 2 generations were affected in each family and father-son transmission was noted. |