Joubert Syndrome

About the Disease
Joubert Syndrome 1, also known as joubert syndrome, is related to joubert syndrome 3 and coach syndrome 1, and has symptoms including ataxia An important gene associated with Joubert Syndrome 1 is INPP5E (Inositol Polyphosphate-5-Phosphatase E), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. The drugs Metronidazole and Cola have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are intellectual disability and ataxia

Common Targets
HRC | SLC30A7 | RPGRIP1L | TTC21B | TMPRSS15 | SUFU | KIF7 | CPLANE1 | ARMC9 | DMKN | B9D1 | TMEM67 | DNA2 | TMEM231 | TMEM216 | ARL3 | CEP290 | MKS1 | TTC21A | CELSR2 | PZP | CCDC28B | TTN | SPTB | TCTN3 | HMCN1 | KIAA0586 | PDE6D | HYLS1 | TCTN1 | CEP41 | RANBP2 | KIAA0753 | CDHR1 | ANAPC7 | C2CD3 | CEP120 | PPP2R3A | PIBF1 | CEP164 | PRR23A | ARL13B | CSPP1 | CC2D2A | KATNIP | NPHP1 | TOGARAM1 | AHI1 | INPP5E | TCTN2 | TMEM237 | OFD1

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