NEUTROPENIA, CHRONIC FAMILIAL
General Information (adopted from Orphanet):
Synonyms, Signs: |
LEUKOPENIA, BENIGN FAMILIAL |
Number of Symptoms | 9 |
OrphanetNr: | |
OMIM Id: |
162700
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ICD-10: |
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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 inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000230) | Gingivitis | 31 / 7739 | ||||
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(HPO:0000704) | Periodontitis | 24 / 7739 | ||||
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(HPO:0006480) | Premature loss of teeth | 23 / 7739 | ||||
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(HPO:0100759) | Clubbing of fingers | 40 / 7739 | ||||
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(HPO:0010702) | Increased antibody level in blood | 29 / 7739 | ||||
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(HPO:0001875) | Neutropenia | 83 / 7739 | ||||
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(OMIM) | Recurrent oral ulcerations | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Hyperplastic gingivitis | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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