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An asphyxiating thoracic dystrophy associated with variation in the region 15q13.
Features include: Fibular hypoplasia, Pulmonary hypoplasia, Nephritis, and Short stature and 31 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 5 | Nephritis, Reduced kidney function (renal insufficiency), Chronic kidney disease |
Biomarker and diagnostic research for asphyxiating thoracic dystrophy 1 has been reported in the published literature.
No clinical trials have been registered for asphyxiating thoracic dystrophy 1.
130 publications have been identified in PubMed for asphyxiating thoracic dystrophy 1. Research spans Case Report / Case Series (41%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 53 | 41% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
5 |
Liver scarring (fibrosis) (hepatic fibrosis), Jaundice, Polycystic liver disease |
Arms and legs | 4 | Foot polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
Lungs and breathing | 3 | Pulmonary hypoplasia, Difficulty breathing (respiratory insufficiency), Recurrent respiratory infections |
Growth and development | 1 | Short stature |
Bones and joints | 1 | Early ossification of capital femoral epiphyses |
Lab test results | 1 | Conjugated hyperbilirubinemia |
Eyes | 1 | Retinal degeneration |
Blood and immune system | 1 | Recurrent respiratory infections |
Laboratory research
29 |
22% |
Disease patterns and progression | 22 | 17% |
Research summaries | 15 | 12% |
Other research | 3 | 2% |
Clinical study results | 3 | 2% |
New treatment approaches | 3 | 2% |
Testing and diagnosis research | 2 | 2% |
Liu X (2026). [PMID: 41764505](https://pubmed.ncbi.nlm.nih.gov/41764505/). *J Cardiothorac Surg*. [Case Report / Case Series]
Alyan D (2026). [PMID: 40797369](https://pubmed.ncbi.nlm.nih.gov/40797369/). *Ophthalmic Genet*. [Case Report / Case Series]
Tang J (2026). [PMID: 42095020](https://pubmed.ncbi.nlm.nih.gov/42095020/). *Front Genet*. [Case Report / Case Series]
Yilmaz Gulec E (2026). [PMID: 42232679](https://pubmed.ncbi.nlm.nih.gov/42232679/). *Mol Syndromol*. [Epidemiology / Natural History]
Elsherbini A (2026). [PMID: 41689580](https://pubmed.ncbi.nlm.nih.gov/41689580/). *J Hand Surg Am*. [Review / Meta-Analysis]
Liu W (2026). [PMID: 41917797](https://pubmed.ncbi.nlm.nih.gov/41917797/). *J Hand Surg Eur Vol*. [Basic Science / Preclinical]
Jiang W (2026). [PMID: 42245170](https://pubmed.ncbi.nlm.nih.gov/42245170/). *Front Pediatr*. [Epidemiology / Natural History]
Minotti C (2026). [PMID: 40583039](https://pubmed.ncbi.nlm.nih.gov/40583039/). *Clin Genet*. [Case Report / Case Series]
Liang C (2026). [PMID: 41810204](https://pubmed.ncbi.nlm.nih.gov/41810204/). *Transl Pediatr*. [Case Report / Case Series]
Wang Z (2026). [PMID: 41503593](https://pubmed.ncbi.nlm.nih.gov/41503593/). *Clin Case Rep*. [Basic Science / Preclinical]