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Genes (17)
Species:
human : 17 | |
| Human | LCA5 | 167691 | Leber congenital amaurosis 5 | This is the second report of LCA5 mutations causing Leber congenital amaurosis | | Human | RDH12 | 145226 | retinol dehydrogenase 12 (all-trans/9-cis/11-cis) | The demonstration that mutations in a gene previously associated with recessive Leber congenital amaurosis can also cause dominant RP illustrates the wide phenotypic variability of retinal degeneration genes Title:Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.|Association:Y|Conclusion:Interestingly, all patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia. in patients with Leber congenital amaurosis, autosomal recessive retinitis pigmentosa, and autosomal dominant/recessive cone-rod dystrophies six different variants of RDH12 were observed of which three variants were novel | | Human | NXNL1 | 115861 | nucleoredoxin-like 1 | RdCVF variants have roles in leber congenital amaurosis | | Human | CEP290 | 80184 | centrosomal protein 290kDa | findings of preserved foveal cones and visual brain anatomy in Leber congenital amaurosis with CEP290 mutations, despite blindness and rod cell death, suggest an opportunity for visual restoration of central vision in this form of inherited blindness Allelic with Senior-Loken syndrome 6 ({610189}) and Leber congenital amaurosis type X ({610142}) CEP290 mutations represent one of the most frequent causes of Leber congenital amaurosis identified so far CEP290 c.2991_1655A>G mutation frequency in Spanish non-syndromic Leber congenital amaurosis families is lower than that of other countries Allelic with Joubert syndrome 5 ({610188}) and Leber congenital amaurosis type X ({610142}) | | Human | RPGRIP1 | 57096 | retinitis pigmentosa GTPase regulator interacting protein 1 | The RPGRIP1-Lebers congenital amaurosis patient has treatment potential for a gene replacement strategy if targeted to central, but not pericentral or peripheral, retina | | Human | NUB1 | 51667 | negative regulator of ubiquitin-like proteins 1 | interaction between NUB1 and AIPL1 is affected in patients with Leber congenital amaurosis | | Human | AIPL1 | 23746 | aryl hydrocarbon receptor interacting protein-like 1 | Title:The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.|Association:Y|Conclusion:The phenotype of LCA in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset. Rod ERG abnormalities may be present in heterozygous carriers of AIPL1 mutations. CLINICAL RELEVANCE: Understanding and recognizing the phenotype of LCA may help in defining the course and severity of the disease. Identifying the gene defect is the first step in preparation for therapy since molecular diagnosis in LCA will mandate the choice of treatment. The phenotype of LCA (Leber congenital amaurosis) in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset Phenotype-genotype correlations of AIPL1-associated Leber's congenital amaurosis (LCA) interaction between NUB1 and AIPL1 is affected in patients with Leber congenital amaurosis | | Human | CRB1 | 23418 | crumbs homolog 1 (Drosophila) | Title:Mutations in the CRB1 gene cause Leber congenital amaurosis.|Association:Y|Conclusion:In our cohort of patients with LCA, coding sequence variations were observed in the CRB1 gene more frequently than in any of the other 5 known LCA-associated genes. Likely disease-causing sequence variations have now been identified in 64 (28%) of 233 subjects in this cohort. CLINICAL RELEVANCE: Molecular diagnosis can confirm and clarify the diagnosis in an increasing fraction of patients with LCA. As genotype data accumulate, clinical phenotypes associated with specific mutations may be established. This will facilitate the counseling of patients regarding their visual prognosis and the likelihood of associated systemic anomalies. Mutation disrupting the cytoplasmic domain of CRB1 is associated with Leber congenital amaurosis in arabs In human heterozygotes of CRB1 mutations (parents of offspring with Leber congenital amaurosis), distinctive regional retinal dysfunctions were found by multifocal ERG (electroretinography) measurements | | Human | LRAT | 9227 | lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) | LRAT mutations are likely a rare cause of Leber congenital amaurosis among patients from North America | | Human | TULP1 | 7287 | tubby like protein 1 | Mutation in the TULP1 gene is a rare cause of LCA/EORD (Leber congenital amaurosis or early-onset retinal degeneration | | Human | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Recessive retinitis pigmentosa and Leber congenital amaurosis are rarely if ever associated with changes in the ELOVL4 gene | | Human | RPE65 | 6121 | retinal pigment epithelium-specific protein 65kDa | Mutations in the RPE65 gene are rare in patients with leber congenital amaurosis novel mutations in patients with Leber congenital amaurosis multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa and Leber's congenital amaurosis patients Gene therapy with this protein to cure Leber congenital amaurosis; Gene therapy in Rpe65(-/-) mice at advanced-disease stages show some success RPE65 replacement in two human trials with a total of six LCA (Leber congenital amaurosis) patients were documented by visual acuity measurements | | Human | PDC | 5132 | phosducin | Phosducin mutations are not a major cause of dominant or recessive retinitis pigmentosa, Leber congenital amaurosis, or cone-rod degeneration | | Human | NRL | 4901 | neural retina leucine zipper | Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene | | Human | IMPDH1 | 3614 | IMP (inosine 5'-monophosphate) dehydrogenase 1 | Mutations in IMPDH1 account for approximately 2% of families with adRP, and de novo IMPDH1 mutations are also rare causes of isolated LCA (Leber congenital amaurosis) | | Human | GUCY2D | 3000 | guanylate cyclase 2D, membrane (retina-specific) | Leber congenital amaurosis (LCA) caused by mutant GUCY2D had only light perception but retained substantial numbers of cones and rods in the macula and far periphery Some carrier parents of patients with Leber congenital amaurosis and a GUCY2D mutation develop measurable cone and possibly rod abnormalities most consistent with a mild cone-rod dysfunction LCA (leber congenital amaurosis) is caused by the modifying effect of a heterozygous GUCY2D mutation observed against the disease background of a homozygous RPE65 mutation | | Human | CRX | 1406 | cone-rod homeobox | Title:A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.|Association:Y|Conclusion:These results strongly suggest that haploinsufficiency of CRX is not sufficient to cause a retinal disorder. Loss of function alleles of CRX appear to cause Leber congenital amaurosis through a recessive or multigenic mechanism. The frameshift mutation in CRX gene in the patient with Leber congenital amaurosis did not cause impairment in vision Transmission of the disease through three generations provides evidence that Lebers congenital amaurosis is transmitted as an autosomal dominant trait Two patients with Leber congenital amaurosis who carried heterozygously one of two novel frameshift mutations |
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