KEGG   DISEASE: H00530Help
Entry
H00530                      Disease                                

Name
Joubert syndrome
Description
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.
Category
Developmental disorder
BRITE hierarchy
Pathway
Inositol phosphate metabolism
Phosphatidylinositol signaling system
Gene
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]
Other DBs
Reference
PMID:21108387 (description, gene)
  Authors
Brugmann SA, Cordero DR, Helms JA
  Title
Craniofacial ciliopathies: A new classification for craniofacial disorders.
  Journal
Am J Med Genet A 152A:2995-3006 (2010)
Reference
PMID:20615230 (description, gene)
  Authors
Brancati F, Dallapiccola B, Valente EM
  Title
Joubert Syndrome and related disorders.
  Journal
Orphanet J Rare Dis 5:20 (2010)
Reference
PMID:19668216 (gene)
  Authors
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
  Title
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
  Journal
Nat Genet 41:1032-6 (2009)

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