Interstitial lung disease: genes and variants

Genes linked to Interstitial lung disease

• SFTPC: Surfactant protein C

  It contributes to pulmonary surfactant organization and is produced specifically by alveolar type II cells. Dominant pathogenic variants can cause interstitial lung disease across infancy and adulthood, often through protein misfolding and toxic cellular stress.

  1 disease-causing and 9 uncertain variants in SFTPC are linked to Interstitial lung disease.

• TERT: Telomerase reverse transcriptase

  It extends telomeric DNA using an internal RNA template and helps counter progressive chromosome-end shortening in stem and proliferative cells. Loss-of-function variants cause telomere-biology disorders, while promoter activation and increased activity support unlimited proliferation in many cancers.

  0 disease-causing and 12 uncertain variants in TERT are linked to Interstitial lung disease.

• FGFR1: Fibroblast growth factor receptor 1

  Its fibroblast-growth-factor signaling controls proliferation, differentiation, migration, and developmental patterning in many tissues. Germline pathogenic variants can cause hypogonadotropic hypogonadism or craniosynostosis syndromes, while fusions and other activating alterations drive selected cancers.

  0 disease-causing and 0 uncertain variants in FGFR1 are linked to Interstitial lung disease.

• FGFR4: Fibroblast growth factor receptor 4

  It transmits fibroblast-growth-factor signals involved in metabolism, tissue repair, development, and cell proliferation, with FGF19 as an important metabolic ligand. Aberrant signaling can support tumor growth, and activating alterations are therapeutic targets in selected cancers.

  0 disease-causing and 0 uncertain variants in FGFR4 are linked to Interstitial lung disease.

• PDGFRA: Platelet-derived growth factor receptor alpha

  PDGF signaling through this pathway promotes proliferation, survival, and migration of mesenchymal progenitors. Activating mutations or fusions drive gastrointestinal stromal tumors and selected hematologic and solid malignancies and can create kinase-inhibitor sensitivity.

  0 disease-causing and 0 uncertain variants in PDGFRA are linked to Interstitial lung disease.

• PDGFRB: Platelet-derived growth factor receptor beta

  Its signaling supports pericytes, vascular smooth-muscle cells, and other mesenchymal lineages during growth and tissue repair. Oncogenic fusions drive myeloid neoplasms, while germline activating or loss-of-function variants can cause developmental and vascular disorders.

  0 disease-causing and 0 uncertain variants in PDGFRB are linked to Interstitial lung disease.

• ABCA3: Phospholipid-transporting ATPase ABCA3

  It transports phospholipids into lamellar bodies of alveolar type II cells, supporting pulmonary surfactant assembly and normal gas exchange. Biallelic loss-of-function variants can cause neonatal respiratory failure or childhood interstitial lung disease.

  0 disease-causing and 11 uncertain variants in ABCA3 are linked to Interstitial lung disease.

Weakly linked (only a few uncertain records): NKX2-1.

Known disease-causing variants in Interstitial lung disease

Same protein, different disease

• Surfactant metabolism dysfunction, pulmonary, 1 is also caused by SFTPC variants; they fall mostly in different places as the Interstitial lung disease variants (7 disease-causing).
• Hereditary pulmonary alveolar proteinosis is also caused by SFTPC variants; they fall mostly in different places as the Interstitial lung disease variants (4 disease-causing).

Diseases related to Interstitial lung disease

• Idiopathic pulmonary fibrosis, also linked to FGFR1, FGFR4, PDGFRA, PDGFRB and 2 more
• Non-small cell lung carcinoma, also linked to FGFR1, FGFR4, PDGFRA and PDGFRB
• Acute myeloid leukemia, also linked to PDGFRA, PDGFRB and TERT
• Colorectal cancer, also linked to FGFR1, PDGFRA and PDGFRB
• Renal cell carcinoma, also linked to FGFR1, PDGFRA and PDGFRB
• Gastrointestinal stromal tumor, also linked to PDGFRA and PDGFRB
• Hereditary pulmonary alveolar proteinosis, also linked to ABCA3 and SFTPC
• Surfactant metabolism dysfunction, pulmonary, 1, also linked to ABCA3 and SFTPC
• Hepatocellular carcinoma, also linked to PDGFRB and TERT
• Loeys-Dietz syndrome, also linked to ABCA3
• Hypogonadotropic hypogonadism 2 with or without anosmia, also linked to FGFR1
• Ovarian cancer, also linked to PDGFRA

Frequently asked questions

Which genes are linked to Interstitial lung disease?

In CATVariant, Interstitial lung disease is linked to 7 analyzed proteins: SFTPC (Surfactant protein C), TERT (Telomerase reverse transcriptase), FGFR1 (Fibroblast growth factor receptor 1), FGFR4 (Fibroblast growth factor receptor 4), PDGFRA (Platelet-derived growth factor receptor alpha), PDGFRB (Platelet-derived growth factor receptor beta) and 1 more.

How many genetic variants are linked to Interstitial lung disease?

38 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 36 are of uncertain significance or have conflicting reports.

Which uncertain variants in Interstitial lung disease look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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