Recurrent infection due to specific granule deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LACTOFERRIN-DEFICIENT NEUTROPHILS NEUTROPHIL LACTOFERRIN DEFICIENCY SGD Neutrophil-specific granule deficiency |
| Number of Symptoms | 11 |
| OrphanetNr: | 169142 |
| OMIM Id: |
245480
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| ICD-10: |
D71 |
| 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 recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Functional neutrophil defect
-Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0011447) | Hyposegmentation of neutrophil nuclei | 3 / 7739 | ||||
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(HPO:0012551) | Absent neutrophil specific granules | 1 / 7739 | ||||
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(HPO:0002719) | Recurrent infections | 107 / 7739 | ||||
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(OMIM) | Increased neutrophil mitochondria and ribosomes | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Neutrophil nuclear clefts | 1 / 7739 | ||||
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(OMIM) | Low neutrophil alkaline phosphatase | 1 / 7739 | ||||
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(OMIM) | Normal degranulation of azurophil granules after phagocytosis | 1 / 7739 | ||||
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(OMIM) | Absent neutrophil lactoferrin | 1 / 7739 | ||||
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(MedDRA:10029370) | Neutrophil count normal | 1 / 7739 | ||||
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(OMIM) | Abnormal neutrophil nuclear segmentation | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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