Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene.
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
The documentation for bronchiectasis with or without elevated sweat chloride type 3 is limited primarily due to its rarity and the recent identification of its genetic basis. Conditions affecting fewer individuals often lack systematic clinical studies, leading to gaps in understanding their full clinical spectrum. Additionally, the phenotypic variability associated with mutations in the SCNN1G gene complicates the characterization of this condition.
For managing bronchiectasis with or without elevated sweat chloride type 3, it is advisable to seek a pulmonologist with expertise in genetic respiratory disorders. Genetic counseling may also be beneficial to understand the implications of the SCNN1G mutation for you and your family. Although there are currently no patient organizations specifically identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, consider inquiring about participation in any available natural history studies to contribute to the understanding of this condition.
Actionable guidance for navigating care for bronchiectasis with or without elevated sweat chloride 3
For managing bronchiectasis with or without elevated sweat chloride type 3, it is advisable to seek a pulmonologist with expertise in genetic respiratory disorders. Genetic counseling may also be beneficial to understand the implications of the SCNN1G mutation for you and your family. Although there are currently no patient organizations specifically identified for this condition, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, consider inquiring about participation in any available natural history studies to contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 2 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.