Joubert syndrome

Joubert syndrome and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. Joubert syndrome is associated with retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Most of the causative genes encode cilium-related proteins.

Developmental disorder

AHI1 (mutation) [HSA:54806] [KO:K16740]
NPHP1 (deletion) [HSA:4867]
CEP290 (mutation) [HSA:80184] [KO:K16533]
TMEM67 (mutation) [HSA:91147]
RPGRIP1L (mutation) [HSA:23322] [KO:K16550]
ARL13B (mutation) [HSA:200894] [KO:K07962]
CC2D2A (mutation) [HSA:57545]
OFD1 (mutation) [HSA:8481] [KO:K16480]
TMEM216 (mutation) [HSA:51259]
INPP5E (mutation) [HSA:56623] [KO:K01099]

PMID:21108387 (description, gene)

Brugmann SA, Cordero DR, Helms JA

Craniofacial ciliopathies: A new classification for craniofacial disorders.

Am J Med Genet A 152A:2995-3006 (2010)

PMID:20615230 (description, gene)

Brancati F, Dallapiccola B, Valente EM

Joubert Syndrome and related disorders.

Orphanet J Rare Dis 5:20 (2010)

PMID:19668216 (gene)

Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Nat Genet 41:1032-6 (2009)