MUCUS INSPISSATION OF RESPIRATORY TRACT
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 14 |
| OrphanetNr: | |
| OMIM Id: |
253240
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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 recessive 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:0000246) | Sinusitis | 73 / 7739 | ||||
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(HPO:0100760) | Clubbing of toes | 24 / 7739 | ||||
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(HPO:0001217) | Clubbing | 39 / 7739 | ||||
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(HPO:0100759) | Clubbing of fingers | 40 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0002110) | Bronchiectasis | 73 / 7739 | ||||
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(HPO:0006541) | Chronic obstructive airway disease from birth | 1 / 7739 | ||||
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(HPO:0002205) | Recurrent respiratory infections | 254 / 7739 | ||||
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(HPO:0100750) | Atelectasis | 17 / 7739 | ||||
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(OMIM) | Abnormal mucus | 1 / 7739 | ||||
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(OMIM) | Normal sweat electrolytes | 3 / 7739 | ||||
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(OMIM) | No gastrointestinal symptoms | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Normal pancreas | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Perlman et al. (1975) observed 2 sibs, with first-cousin parents, who had chronic obstructive airway disease from birth. Abnormal mucus of the respiratory tract seemed to be the primary defect. The clinical picture in some ways resembled that ... |