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CFTR-related disorder(CFTR-RD)

MedGen UID:: 1854862
•Concept ID:: C5924204
•: Disease or Syndrome

Synonyms:	CFTR-RD; CFTR-related condition; CFTR-related disorders
SNOMED CT:	CFTR-related disorder (1335845008); CFTR (cystic fibrosis transmembrane conductance regulator) related disorder (1335845008); Cystic fibrosis transmembrane conductance regulator-related disorder (1335845008)

Monarch Initiative:	MONDO:7770004

Definition

A disease associated with CFTR (cystic fibrosis transmembrane conductance regulator) dysfunction that does not fulfill the diagnostic criteria for cystic fibrosis (CF). CFTR-related disorders are characterized by clinical evidence of CFTR dysfunction limited to a single organ system, a sweat chloride concentration below the CF diagnostic threshold (typically less than 60 mmol/L), and CFTR genotypes that often include at least one variant not classified as CF-causing. Recognized CFTR-related disorders include congenital bilateral absence of the vas deferens (CBAVD), acute recurrent or chronic pancreatitis, and disseminated bronchiectasis. [from MONDO]

Professional guidelines

PubMed

Detection of disease-causing CFTR variants in state newborn screening programs.

McGarry ME, Ren CL, Wu R, Farrell PM, McColley SA
Pediatr Pulmonol 2023 Feb;58(2):465-474. Epub 2022 Oct 25 doi: 10.1002/ppul.26209. PMID: 36237137 Free PMC Article

ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria.

Castellani C, De Boeck K, De Wachter E, Sermet-Gaudelus I, Simmonds NJ, Southern KW; ECFS Diagnostic Network Working Group
J Cyst Fibros 2022 Nov;21(6):908-921. Epub 2022 Oct 8 doi: 10.1016/j.jcf.2022.09.011. PMID: 36220763

Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype.

Tosco A, Castaldo A, Colombo C, Claut L, Carnovale V, Iacotucci P, Lucarelli M, Cimino G, Fabrizzi B, Caporelli N, Majo F, Ciciriello F, Padoan R, Poli P, Taccetti G, Centrone C, Casciaro R, Castellani C, Salvatore D, Colangelo C, Bonomi P, Castaldo G, Terlizzi V
J Cyst Fibros 2022 Sep;21(5):850-855. Epub 2022 May 4 doi: 10.1016/j.jcf.2022.04.020. PMID: 35523714

See all (8)

Recent clinical studies

Etiology

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.

Simmonds NJ, Southern KW, De Wachter E, De Boeck K, Bodewes F, Mainz JG, Middleton PG, Schwarz C, Vloeberghs V, Wilschanski M, Bourrat E, Chalmers JD, Ooi CY, Debray D, Downey DG, Eschenhagen P, Girodon E, Hickman G, Koitschev A, Nazareth D, Nick JA, Peckham D, VanDevanter D, Raynal C, Scheers I, Waller MD, Sermet-Gaudelus I, Castellani C; ECFS Diagnostic Network Working Group
J Cyst Fibros 2024 Jul;23(4):590-602. Epub 2024 Mar 19 doi: 10.1016/j.jcf.2024.03.008. PMID: 38508949

ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.

De Wachter E, De Boeck K, Sermet-Gaudelus I, Simmonds NJ, Munck A, Naehrlich L, Barben J, Boyd C, Veen SJ, Carr SB, Fajac I, Farrell PM, Girodon E, Gonska T, Grody WW, Jain M, Jung A, Kerem E, Raraigh KS, van Koningsbruggen-Rietschel S, Waller MD, Southern KW, Castellani C; ECFS Diagnostic Network Working Group
J Cyst Fibros 2024 May;23(3):388-397. Epub 2024 Feb 22 doi: 10.1016/j.jcf.2024.01.012. PMID: 38388234

ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria.

When CFSPID becomes CF.

Ginsburg D, Wee CP, Reyes MC, Brewington JJ, Salinas DB
J Cyst Fibros 2022 Jan;21(1):e23-e27. Epub 2021 Oct 29 doi: 10.1016/j.jcf.2021.06.012. PMID: 34756682

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Nykamp K, Truty R, Riethmaier D, Wilkinson J, Bristow SL, Aguilar S, Neitzel D, Faulkner N, Aradhya S
Hum Mutat 2021 Sep;42(9):1165-1172. Epub 2021 Jul 10 doi: 10.1002/humu.24250. PMID: 34196078 Free PMC Article

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Diagnosis

Pseudo-Bartter syndrome: A CFTR-related disorder?

Rodriguez Mier N, Antoons V, Cuyx S, Santo Ramalho A, Boon M, Proesmans M, Mekahli D, Vermeulen F
J Cyst Fibros 2025 Mar;24(2):401-403. Epub 2024 Oct 31 doi: 10.1016/j.jcf.2024.10.007. PMID: 39482189

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.

ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria.

When CFSPID becomes CF.

Ginsburg D, Wee CP, Reyes MC, Brewington JJ, Salinas DB
J Cyst Fibros 2022 Jan;21(1):e23-e27. Epub 2021 Oct 29 doi: 10.1016/j.jcf.2021.06.012. PMID: 34756682

The diagnosis of cystic fibrosis.

De Boeck K, Vermeulen F, Dupont L
Presse Med 2017 Jun;46(6 Pt 2):e97-e108. Epub 2017 May 31 doi: 10.1016/j.lpm.2017.04.010. PMID: 28576637

See all (44)

Therapy

CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.

Tümmler B, Schulz A, Minso R, Alfeis N, Tamm S, Rademacher J, Ringshausen FC
Respir Res 2026 Mar 3;27(1) doi: 10.1186/s12931-026-03599-1. PMID: 41776502 Free PMC Article

Therapeutic hopes for CFTR-related recurrent pancreatitis: a case-series.

Gohy S, Le A, Sermet-Gaudelus I, De Wachter E, Lhomme A, Vermeulen F, Scheers I
J Cyst Fibros 2026 May;25(3):509-512. Epub 2026 Feb 23 doi: 10.1016/j.jcf.2026.02.008. PMID: 41735157

Evaluating the use and perceptions of cannabis and vaping post-cannabis legalisation in people with cystic fibrosis and CFTR-related disorder: survey results from a large Canadian adult cystic fibrosis clinic.

Dagenais R, Karlsen E, Lee K, Quon BS
BMJ Open Respir Res 2025 Dec 25;12(1) doi: 10.1136/bmjresp-2024-002715. PMID: 41448798 Free PMC Article

Prevalence of CFTR Pathogenic Variants in Pancreatitis: A Systematic Review and Meta-Analysis.

Jiang J, Waidyaratne G, Mussad S, Harris S, Roberts ME, Gokun Y, Freeman AJ, Han S, Hart PA, Lara LF, Lee PJ, Krishna SG, Papachristou GI, Stanich PP, Ramsey ML
Clin Transl Gastroenterol 2025 Jul 1;16(7):e00846. Epub 2025 Apr 18 doi: 10.14309/ctg.0000000000000846. PMID: 40249094 Free PMC Article

Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.

Cabrol C, Bienvenu T, Ruaud L, Girodon E, Noacco G, Delobeau M, Fanian F, Richaud-Thiriez B, Van Maldergem L, Aubin F
Acta Derm Venereol 2016 Aug 23;96(6):848-9. doi: 10.2340/00015555-2424. PMID: 27026144

See all (6)

Prognosis

Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.

Sun J, Hua L, He Y, Liu H, Liu Q, Chen M, Li J, Ye J, Fang D, Ji R, Chen Y, Yang C, Zhang J
Gene 2024 May 20;907:148190. Epub 2024 Jan 19 doi: 10.1016/j.gene.2024.148190. PMID: 38246579

Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.

Terlizzi V, Padoan R, Leonetti G, Vitullo P, Tosco A, Taccetti G, Fevola C, Ficili F, Pepe A, Poli P, Claut L, Daccò V, Salvatore D
Eur J Pediatr 2023 Dec;182(12):5275-5283. Epub 2023 Sep 19 doi: 10.1007/s00431-023-05193-9. PMID: 37725210

When CFSPID becomes CF.

Ginsburg D, Wee CP, Reyes MC, Brewington JJ, Salinas DB
J Cyst Fibros 2022 Jan;21(1):e23-e27. Epub 2021 Oct 29 doi: 10.1016/j.jcf.2021.06.012. PMID: 34756682

The diagnosis of cystic fibrosis.

De Boeck K, Vermeulen F, Dupont L
Presse Med 2017 Jun;46(6 Pt 2):e97-e108. Epub 2017 May 31 doi: 10.1016/j.lpm.2017.04.010. PMID: 28576637

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

Bergougnoux A, Viart V, Miro J, Bommart S, Molinari N, des Georges M, Claustres M, Chiron R, Taulan-Cadars M
J Cyst Fibros 2015 Sep;14(5):646-53. Epub 2015 Mar 18 doi: 10.1016/j.jcf.2015.02.012. PMID: 25797027

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Clinical prediction guides

CFTR activity in nasal potential difference of adults with idiopathic bronchiectasis.

Tümmler B, Schulz A, Minso R, Alfeis N, Tamm S, Rademacher J, Ringshausen FC
Respir Res 2026 Mar 3;27(1) doi: 10.1186/s12931-026-03599-1. PMID: 41776502 Free PMC Article

Cystic fibrosis and CFTR-related disorder with electrolyte imbalance at diagnosis: clinical features and outcome in an Italian cohort.

When CFSPID becomes CF.

Ginsburg D, Wee CP, Reyes MC, Brewington JJ, Salinas DB
J Cyst Fibros 2022 Jan;21(1):e23-e27. Epub 2021 Oct 29 doi: 10.1016/j.jcf.2021.06.012. PMID: 34756682

Non-allergic asthma as a CFTR-related disorder.

Schulz A, Tümmler B
J Cyst Fibros 2016 Sep;15(5):641-4. Epub 2015 Oct 31 doi: 10.1016/j.jcf.2015.10.011. PMID: 26526220

Should diffuse bronchiectasis still be considered a CFTR-related disorder?

See all (15)