cystic fibrosis
Findings
No curated finding names cystic fibrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations.
Definition from the Mondo Disease Ontology (MONDO:0009061), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated sweat chlorideHPOHP:0012236
- 77 of 77 reported patients
- Very frequent (80% to 99% of cases)
- BronchiectasisHPOHP:0002110
- 106 of 111 reported patients
- Very frequent (80% to 99% of cases)
- Absent vas deferensHPOHP:0012873
- Very frequent (80% to 99% of cases)
- Airway obstructionHPOHP:0006536
- Very frequent (80% to 99% of cases)
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 11 of 27 reported patients
- Very frequent (80% to 99% of cases)
Genes
19 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CFTRHGNC:1884
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
- CEACAM3HGNC:1815
- Supportive · Orphanet · Autosomal recessive · 2025
- CEACAM6HGNC:1818
- Supportive · Orphanet · Autosomal recessive · 2025
- DCTN4HGNC:15518
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: cystic fibrosis
- Also called
- CFcystic fibrosis lung disease, modifier ofmucoviscidosispseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis