KEGG   DISEASE: Leber congenital amaurosis
Entry
H00837                      Disease                                

Name
Leber congenital amaurosis
  Subgroup
Leber congenital amaurosis with early-onset deafness (LCAEOD)
Description
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.
Category
Nervous system disease
Brite
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
Related
pathway
hsa00830  Retinol metabolism
hsa00230  Purine metabolism
hsa04390  Hippo signaling pathway
hsa04744  Phototransduction
Gene
(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] [KO:K24828]
(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] [KO:K25404]
(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]
(LCA18) PRPH2 [HSA:5961] [KO:K17343]
(LCA19) USP45 [HSA:85015] [KO:K11844]
(LCAEOD) TUBB4B [HSA:10383] [KO:K07375]
Drug
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 608133 618513 617879
Reference
  Authors
Weleber RG, Francis PJ, Trzupek KM
  Title
Leber Congenital Amaurosis
  Journal
GeneReviews (1993)
Reference
  Authors
Liu MM, Tuo J, Chan CC
  Title
Republished review: Gene therapy for ocular diseases.
  Journal
Postgrad Med J 87:487-95 (2011)
DOI:10.1136/pgmj.2009.174912rep
Reference
  Authors
Cideciyan AV
  Title
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
  Journal
Prog Retin Eye Res 29:398-427 (2010)
DOI:10.1016/j.preteyeres.2010.04.002
Reference
  Authors
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
  Title
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
  Journal
Nat Genet 44:1035-9 (2012)
DOI:10.1038/ng.2356
Reference
  Authors
Yi Z, Ouyang J, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q
  Title
Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis.
  Journal
J Med Genet 56:325-331 (2019)
DOI:10.1136/jmedgenet-2018-105709
Reference
  Authors
Luscan R, Mechaussier S, Paul A, Tian G, Gerard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traore M, Bras M, Pouliet A, Bessieres B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I
  Title
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
  Journal
Am J Hum Genet 101:1006-1012 (2017)
DOI:10.1016/j.ajhg.2017.10.010
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