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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Bardet-Biedl syndrome
Summary
- Definition
- A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
- Super Class
- autosomal recessive disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 583 | BBS2 | Bardet-Biedl syndrome 2 | |
| 22994 | CEP131 | centrosomal protein 131 | |
| 27241 | BBS9 | Bardet-Biedl syndrome 9 | |
| 49855 | SCAPER | S-phase cyclin A associated protein in the ER | |
| 91147 | TMEM67 | transmembrane protein 67 | |
| 123016 | TTC8 | tetratricopeptide repeat domain 8 | |
| 221322 | TBC1D32 | TBC1 domain family member 32 |
