Comparative

OMIA group 1794

Cystic fibrosis

The chain reaches the human disease cystic fibrosis, which Mondo defines as: “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.”

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

  1. Animal disease

    Reached

    OMIA records it in 4 species entries marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.91.

  5. Drugs

    Reached

    12 ChEMBL drugs, 6 approved. At least one has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

cystic fibrosis

67.0 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.91 32.0 of 35
Drugs A drug has reached approved for this disease 25.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes Both routes found this disease 10.0 of 10
Species 0 naturally occurring species entries marked as a defect. 4 genetically engineered entries are not counted 0.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species Scientific name OMIA entry A defect
domestic ferret Genetically engineered, not naturally occurring. Not counted in the score. Mustela putorius furo OMIA:001794-9669 Yes
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:001794-9823 Yes
rabbit Genetically engineered, not naturally occurring. Not counted in the score. Oryctolagus cuniculus OMIA:001794-9986 Yes
sheep Genetically engineered, not naturally occurring. Not counted in the score. Ovis aries OMIA:001794-9940 Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species Animal gene Human gene Ortholog
domestic ferret CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) NCBI Gene 101672484 Ensembl does not know this NCBI Gene identifier.
pig CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) NCBI Gene 403154 CFTR Ensembl one to one
rabbit CFTR CF transmembrane conductance regulator NCBI Gene 100009471 CFTR Ensembl one to one
sheep CFTR cystic fibrosis transmembrane conductance regulator NCBI Gene 443347 CFTR Ensembl one to one

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

Mondo disease Name Found by
MONDO:0009061 cystic fibrosis 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. Both routes

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene Human disease Score Evidence Kinds of evidence
CFTR cystic fibrosis 0.91 18,298 Literature 0.99 Known drug 0.99 Genetic association 0.95 Affected pathway 0.93 Genetic literature 0.86 Animal model 0.56

Drugs

A drug acts on CFTR and has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Elexacaftor CFTR positive modulator Approved Approved for cystic fibrosis
Ivacaftor CFTR activator; positive modulator Approved Approved for cystic fibrosis
Lumacaftor CFTR stabiliser Approved Approved for cystic fibrosis
Tezacaftor CFTR positive modulator Approved Approved for cystic fibrosis
Vanzacaftor CFTR positive modulator Approved Approved for cystic fibrosis
Bamocaftor CFTR positive modulator Phase 3 Phase 3 for cystic fibrosis
Galicaftor CFTR positive modulator Phase 2 Phase 2 for cystic fibrosis
Navocaftor CFTR positive modulator Phase 2 Phase 2 for cystic fibrosis
Olacaftor CFTR positive modulator Phase 2 Phase 2 for cystic fibrosis
Icenticaftor CFTR activator Phase 2 Phase 1/2 for cystic fibrosis
Crofelemer CFTR inhibitor Approved No
Iowh-032 CFTR inhibitor Phase 2 No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.