KEGG   DISEASE: Leber congenital amaurosisHelp
H00837                      Disease                                

Leber congenital amaurosis
Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA is generally inherited in an autosomal recessive manner, and caused by mutations in more than a dozen genes. Several have been demonstrated as potentially efficacious gene therapy targets.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00837  Leber congenital amaurosis
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H00837  Leber congenital amaurosis
BRITE hierarchy
hsa00230  Purine metabolism
hsa00830  Retinol metabolism
hsa04744  Phototransduction
(LCR1) GUCY2D [HSA:3000] [KO:K12321]
(LCA2) RPE65 [HSA:6121] [KO:K11158]
(LCA3) SPATA7 [HSA:55812] [KO:K19655]
(LCA4) AIPL1 [HSA:23746] [KO:K17767]
(LCA5) LCA5 [HSA:167691]
(LCA6) RPGRIP1 [HSA:57096] [KO:K16512]
(LCA7) CRX [HSA:1406] [KO:K09337]
(LCA8) CRB1 [HSA:23418] [KO:K16681]
(LCA9) NMNAT1 [HSA:64802] [KO:K06210]
(LCA10) CEP290 [HSA:80184] [KO:K16533]
(LCA11) IMPDH1 [HSA:3614] [KO:K00088]
(LCA12) RD3 [HSA:343035]
(LCA13) RDH12 [HSA:145226] [KO:K11153]
(LCA14) LRAT [HSA:9227] [KO:K00678]
(LCA15) TULP1 [HSA:7287] [KO:K19600]
(LCA16) KCNJ13 [HSA:3769] [KO:K05006]
(LCA17) GDF6 [HSA:392255] [KO:K20012]
Voretigene neparvovec [DR:D11008] (biallelic RPE65 mutated)
Other DBs
ICD-11: 9B70
ICD-10: H35.5
MeSH: D057130
OMIM: 204000 204100 604232 604393 604537 613826 613829 613835 608553 611755 613837 610612 612712 613341 613843 614186 615360
Weleber RG, Francis PJ, Trzupek KM
Leber Congenital Amaurosis
GeneReviews (1993)
Liu MM, Tuo J, Chan CC
Republished review: Gene therapy for ocular diseases.
Postgrad Med J 87:487-95 (2011)
Cideciyan AV
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
Prog Retin Eye Res 29:398-427 (2010)
Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Nat Genet 44:1035-9 (2012)

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