Hypoparathyroidism-Retardation-Dysmorphism Syndrome, also known as sanjad-sakati syndrome,is related to sick sinus syndrome and hypoparathyroidism-intellectual disability-dysmorphism syndrome,and has symptoms including thin vermilion border, microcephaly and long philtrum. An important gene associated with Hypoparathyroidism-Retardation-Dysmorphism Syndrome is TBCE (Tubulin Folding Cofactor E), and among its related pathways are Cooperation of Prefoldin and TriC/CCTin actin and tubulin folding and Chaperonin-mediated protein folding. Affiliated tissues include eye, bone and pituitary
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.