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Condition report · Respiratory

Familial Pulmonary Fibrosis

Inherited forms of lung scarring (pulmonary fibrosis), most often linked to genes that maintain telomeres, the protective ends of chromosomes, and less often to surfactant-protein genes. Telomere-related forms can also affect the bone marrow and liver.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

Telomere-related Pulmonary Fibrosis and/or Bone Marrow Failure

Variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN can cause progressive pulmonary fibrosis in adulthood, sometimes together with bone marrow failure or liver disease.

What a diagnosis changes

Knowing can prompt earlier lung monitoring and treatment, screening for blood and liver involvement, care with immunosuppressive drugs around transplant, and careful selection of related donors.

Genes analysed

Includes 9 related subtypes ↓
  • pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
  • pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
  • pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
  • pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
  • pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
  • pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
  • pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
  • pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
  • pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
MONDO:0000148

Interstitial Lung Disease 1 (SFTPA1-related)

Autosomal dominant

Variants in the surfactant protein A1 gene (SFTPA1) can cause familial pulmonary fibrosis, and in some families lung cancer.

Genes analysed

Also known as

ILD1

MONDO:0030608OMIM 619611MedGen 1794231

Interstitial Lung Disease 2 (SFTPA2-related)

Autosomal dominant

Variants in the surfactant protein A2 gene (SFTPA2) can cause familial pulmonary fibrosis, and in some families lung cancer.

Genes analysed

Also known as

fibrocystic pulmonary dysplasia; fibrosing alveolitis, cryptogenic; idiopathic pulmonary fibrosis, familial; interstitial pneumonitis, usual; pulmonary fibrosis, idiopathic

MONDO:0800497OMIM 178500MedGen 1794136

Limitations

  • SFTPA1 and SFTPA2 are closely related, near-identical genes, so short-read sequencing can misplace reads between them and some variants may be missed or need confirmation.
  • Whole genome sequencing cannot measure telomere length, which is often used alongside genetic testing to assess telomere-related disease.

Other respiratory conditions

All conditions →

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