Recurrent infections - inflammatory syndrome due to zinc metabolism disorder
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYPERZINCEMIA, FAMILIAL DYSALBUMINEMIC HYPERZINCEMIA AND HYPERCALPROTECTINEMIA, INCLUDED ALBUMIN BINDING OF ZINC, ELEVATED Hyperzincemia and hypercalprotectinemia |
| Number of Symptoms | 5 |
| OrphanetNr: | 251523 |
| OMIM Id: |
194470
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| ICD-10: |
E83.2 |
| 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: |
[Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of zinc metabolism
-Rare genetic disease Functional neutrophil defect -Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(OMIM) | Elevated plasma zinc | 1 / 7739 | ||||
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(OMIM) | Increased zinc binding to albumin | 1 / 7739 | ||||
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(OMIM) | Copper and iron not increased | 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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