An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Symptoms Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.