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asphyxiating thoracic dystrophy 2 (ATD2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

asphyxiating thoracic dystrophy 2

MONDO:0012644

Also known as:ATD2IFT80 Jeune syndromeJeune syndrome caused by mutation in IFT80

Overview

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.

GeneticsAutosomal recessive · IFT80 (chr 3)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include: Mesomelia, Short foot, Rhizomelia, and Brachydactyly and 4 more.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Short foot, Postaxial hand polydactyly

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

IFT80 encodes intraflagellar transport 80 (777 aa). Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia Highest expression in Pituitary (41.8 TPM) and Cells Cultured fibroblasts (33.8 TPM).

Asphyxiating thoracic dystrophy 2 is caused by mutations in the IFT80 gene on chromosome 3.

IFT80 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for IFT80 is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for asphyxiating thoracic dystrophy 2.

6 publications have been identified in PubMed for asphyxiating thoracic dystrophy 2. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Clinical Trial Publication (17%).

Recent Publications

Vanden Eynde N (2026). [PMID: 41546657](https://pubmed.ncbi.nlm.nih.gov/41546657/). *Prenat Diagn*. [Review / Meta-Analysis]
Alyan D (2026). [PMID: 40797369](https://pubmed.ncbi.nlm.nih.gov/40797369/). *Ophthalmic Genet*. [Case Report / Case Series]
Pattani N (2025). [PMID: 40250984](https://pubmed.ncbi.nlm.nih.gov/40250984/). *J Med Genet*. [Epidemiology / Natural History]
Janáky M (2025). [PMID: 39846623](https://pubmed.ncbi.nlm.nih.gov/39846623/). *Vision (Basel)*. [Review / Meta-Analysis]
Chen X (2024). [PMID: 39073908](https://pubmed.ncbi.nlm.nih.gov/39073908/). *Interdiscip Cardiovasc Thorac Surg*. [Clinical Trial Publication]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611263

GARD

Genetic and Rare Diseases Info Center

GARD:15511

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

asphyxiating thoracic dystrophy 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Outcomes of Spinal Deformity Treatment in Asphyxiating Thoracic Dystrophy.

asphyxiating thoracic dystrophy 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Outcomes of Spinal Deformity Treatment in Asphyxiating Thoracic Dystrophy.