CYSTIC FIBROSIS, MODIFIER OF, 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CFM1 MECONIUM ILEUS IN CYSTIC FIBROSIS, SUSCEPTIBILITY TO, INCLUDED |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
603855
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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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0004401) | Meconium ileus | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
While most patients with cystic fibrosis (219700) suffer from pancreatic enzyme insufficiency, 10 to 15% of patients have a pancreatic-sufficient phenotype, which has been correlated with a group of mild CFTR (602421) mutations characterized by their ability to ... |