IFT140 encodes intraflagellar transport 140 (1,462 aa). Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Highest expression in Thyroid (59.8 TPM) and Testis (47.9 TPM).

Short-rib thoracic dysplasia 9 with or without polydactyly is associated with mutations in the IFT140 gene on chromosome 16.

IFT140 is classified as a druggable target with score 0.0.

Genetic testing for IFT140 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 9 with or without polydactyly has been reported in the published literature.

Phenotype severity distribution: 67 always present features, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for short-rib thoracic dysplasia 9 with or without polydactyly.

206 publications have been identified in PubMed for short-rib thoracic dysplasia 9 with or without polydactyly. Research spans Case Report / Case Series (41%), Epidemiology / Natural History (22%), and Basic Science / Preclinical (16%).

Recent Publications

• Minotti C (2026). [PMID: 40583039](https://pubmed.ncbi.nlm.nih.gov/40583039/). *Clin Genet*. [Case Report / Case Series]

• Mokhtari A (2026). [PMID: 40842263](https://pubmed.ncbi.nlm.nih.gov/40842263/). *Clin Genet*. [Basic Science / Preclinical]

• Liu X (2026). [PMID: 41764505](https://pubmed.ncbi.nlm.nih.gov/41764505/). *J Cardiothorac Surg*. [Epidemiology / Natural History]

• Abola MV (2026). [PMID: 41037671](https://pubmed.ncbi.nlm.nih.gov/41037671/). *J Pediatr Orthop*. [Epidemiology / Natural History]

• Khan H (2026). [PMID: 41786235](https://pubmed.ncbi.nlm.nih.gov/41786235/). *Bone*. [Basic Science / Preclinical]

• Tang J (2026). [PMID: 42095020](https://pubmed.ncbi.nlm.nih.gov/42095020/). *Front Genet*. [Gene Therapy / Novel Therapeutics]

• Romo-Aguas JC (2026). [PMID: 42022048](https://pubmed.ncbi.nlm.nih.gov/42022048/). *Ophthalmol Sci*. [Epidemiology / Natural History]

• Liu W (2026). [PMID: 41917797](https://pubmed.ncbi.nlm.nih.gov/41917797/). *J Hand Surg Eur Vol*. [Basic Science / Preclinical]

• Liu Y (2026). [PMID: 41982962](https://pubmed.ncbi.nlm.nih.gov/41982962/). *Transl Pediatr*. [Case Report / Case Series]

• Yu W (2026). [PMID: 42027034](https://pubmed.ncbi.nlm.nih.gov/42027034/). *J Hand Surg Eur Vol*. [Case Report / Case Series]