Neutropenia - monocytopenia - deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 4 |
| OrphanetNr: | 2690 |
| OMIM Id: |
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| ICD-10: |
D82.8 |
| 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: | No data available. |
| Inheritance: |
Autosomal recessive inheritance |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Constitutional neutropenia with extra-haematopoietic manifestations
-Rare genetic disease -Rare immune disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0004311) | Abnormality of macrophages | Very frequent [Orphanet] | 7 / 7739 | |||
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(HPO:0001874) | Abnormality of neutrophils | Very frequent [Orphanet] | 47 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Frequent [Orphanet] | 148 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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