46 Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. most people with this disorder are born with a cleft lip and/or a cleft palate. affected individuals may have depressions (pits) near the center of the lower lip and small mounds of tissue on the lower lip. in some cases, people with popliteal pterygium syndrome have missing teeth. other features may include webs of skin on the backs of the legs across the knee joint, webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, and tissue connecting the upper and lower eyelids or the upper and lower jaw. affected individuals may also have abnormal genitals. this condition is inherited in an autosomal dominant fashion and is caused by mutations in the irf6 gene
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.