CRB
MCID: LBR001
MIFTS: 61

Leber Congenital Amaurosis (CRB) malady

Categories: Rare diseases, Genetic diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Leber Congenital Amaurosis

Aliases & Descriptions for Leber Congenital Amaurosis:

Name: Leber Congenital Amaurosis 38 12 23 50 24 25 56 42 14 69
Lca 12 23 50 24 25 14
Leber's Amaurosis 12 50 25
Congenital Amaurosis of Retinal Origin 25 69
Congenital Retinal Blindness 50 25
Amaurosis Congenita of Leber 24 56
Amaurosis, Leber Congenital 25 29
Leber's Congenital Tapetoretinal Degeneration 50
Leber Congenital Tapetoretinal Degeneration 25
Leber's Congenital Tapetoretinal Dysplasia 50
Hereditary Epithelial Dysplasia of Retina 25
Congenital Absence of the Rods and Cones 50
Amaurosis Congenita of Leber, Type 1 69
Dysgenesis Neuroepithelialis Retinae 25
Optic Atrophy, Hereditary, Leber 69
Heredoretinopathia Congenitalis 25
Leber's Congenital Amaurosis 12
Lebers Congenital Amaurosis 52
Hereditary Retinal Aplasia 25
Leber Abiotrophy 25
Leber's Disease 12
Leber Amaurosis 24
Crb 25

Characteristics:

Orphanet epidemiological data:

56
leber congenital amaurosis
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:14791
MeSH 42 D057130
SNOMED-CT 64 193413001
Orphanet 56 ORPHA65
MESH via Orphanet 43 D057130
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 70 C0339527
UMLS 69 C0339527

Summaries for Leber Congenital Amaurosis

NIH Rare Diseases : 50 leber congenital amaurosis (lca) is an eye disorder that primarily affects the retina. people with this condition typically have severe visual impairment beginning in infancy. other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. the pupils also do not react normally to light. additionally, the cornea may be cone-shaped and abnormally thin (keratoconus). franceschetti's oculo-digital sign is characteristic of leber congenital amaurosis. this sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. different subtypes have been described. the different subtypes are caused by mutations in different genes. some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities. treatment includes correction farsightedness and use of low-vision aids when possible. last updated: 3/27/2017

MalaCards based summary : Leber Congenital Amaurosis, also known as lca, is related to leber congenital amaurosis 9 and leber congenital amaurosis 10, and has symptoms including seizures, nystagmus and intellectual disability. An important gene associated with Leber Congenital Amaurosis is LCA5 (LCA5, Lebercilin), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs cysteine and acetic acid have been mentioned in the context of this disorder. Affiliated tissues include Eye and Eye, and related phenotypes are nervous system and vision/eye

Genetics Home Reference : 25 Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.

Disease Ontology : 12 A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

GeneReviews: NBK1298

Related Diseases for Leber Congenital Amaurosis

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 9 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 17
Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 6
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 3
Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 1
Leber Congenital Amaurosis 7 Aipl1-Related Leber Congenital Amaurosis
Cep290-Related Leber Congenital Amaurosis Crb1-Related Leber Congenital Amaurosis
Crx-Related Leber Congenital Amaurosis Gucy2d-Related Leber Congenital Amaurosis
Impdh1-Related Leber Congenital Amaurosis Iqcb1-Related Leber Congenital Amaurosis
Kcnj13-Related Leber Congenital Amaurosis Lca5-Related Leber Congenital Amaurosis
Lrat-Related Leber Congenital Amaurosis Nmnat1-Related Leber Congenital Amaurosis
Rd3-Related Leber Congenital Amaurosis Rdh12-Related Leber Congenital Amaurosis
Rpe65-Related Leber Congenital Amaurosis Rpgrip1-Related Leber Congenital Amaurosis
Spata7-Related Leber Congenital Amaurosis Tulp1-Related Leber Congenital Amaurosis

Diseases related to Leber Congenital Amaurosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
id Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 9 34.3 AIPL1 CRB1 CRX GUCY2D LCA5 NMNAT1
2 leber congenital amaurosis 10 12.5
3 leber congenital amaurosis 12 12.5
4 leber congenital amaurosis 1 12.5
5 leber congenital amaurosis 3 12.5
6 leber congenital amaurosis 2 12.5
7 leber congenital amaurosis 4 12.4
8 leber congenital amaurosis 15 12.4
9 leber congenital amaurosis 6 12.4
10 leber congenital amaurosis 14 12.4
11 leber congenital amaurosis 8 12.4
12 leber congenital amaurosis 11 12.4
13 leber congenital amaurosis 5 12.4
14 leber congenital amaurosis 7 12.4
15 leber congenital amaurosis 13 12.4
16 leber congenital amaurosis 16 12.4
17 leber congenital amaurosis 17 12.4
18 gucy2d-related leber congenital amaurosis 12.1
19 rpe65-related leber congenital amaurosis 12.1
20 aipl1-related leber congenital amaurosis 12.1
21 nmnat1-related leber congenital amaurosis 12.1
22 iqcb1-related leber congenital amaurosis 12.0
23 kcnj13-related leber congenital amaurosis 12.0
24 impdh1-related leber congenital amaurosis 12.0
25 lca5-related leber congenital amaurosis 12.0
26 lrat-related leber congenital amaurosis 12.0
27 rd3-related leber congenital amaurosis 12.0
28 rdh12-related leber congenital amaurosis 12.0
29 rpgrip1-related leber congenital amaurosis 12.0
30 spata7-related leber congenital amaurosis 12.0
31 tulp1-related leber congenital amaurosis 12.0
32 cep290-related leber congenital amaurosis 12.0
33 crb1-related leber congenital amaurosis 12.0
34 crx-related leber congenital amaurosis 12.0
35 retinitis pigmentosa 7 and digenic 11.7
36 retinitis pigmentosa 11.4
37 senior-loken syndrome-1 11.2
38 littoral cell angioma of the spleen 11.1
39 nephronophthisis 15 11.0
40 nephronophthisis 14 11.0
41 senior-loken syndrome 5 11.0
42 nystagmus 1, congenital, x-linked 11.0
43 leber optic atrophy 11.0
44 retinitis 10.7
45 2p13.2 microdeletion syndrome 10.5 LCA5 LRAT RPE65 SPATA7
46 rpl5-related diamond-blackfan anemia 10.5 AIPL1 CRX GUCY2D RPE65 RPGRIP1
47 anophthalmia-esophageal atresia-genital abnormalities syndrome 10.4 AIPL1 CEP290 GUCY2D RPE65
48 cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 10.4 CEP290 GUCY2D RD3 RPE65
49 adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 10.4 AIPL1 CRB1 CRX GUCY2D RPE65 RPGRIP1
50 bartholin's duct cyst 10.4 CEP290 CRB1 GUCY2D LCA5 SPATA7

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis:



Diseases related to Leber Congenital Amaurosis

Symptoms & Phenotypes for Leber Congenital Amaurosis

Human phenotypes related to Leber Congenital Amaurosis:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 nystagmus 56 32 Frequent (79-30%) HP:0000639
3 intellectual disability 56 32 Occasional (29-5%) HP:0001249
4 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
5 hearing impairment 56 32 Occasional (29-5%) HP:0000365
6 cataract 56 32 Frequent (79-30%) HP:0000518
7 global developmental delay 56 32 Occasional (29-5%) HP:0001263
8 abnormality of retinal pigmentation 56 32 Very frequent (99-80%) HP:0007703
9 hemiplegia/hemiparesis 56 32 Frequent (79-30%) HP:0004374
10 abnormal electroretinogram 56 32 Frequent (79-30%) HP:0000512
11 abnormality of neuronal migration 56 32 Frequent (79-30%) HP:0002269
12 keratoconus 56 32 Frequent (79-30%) HP:0000563
13 encephalocele 56 32 Frequent (79-30%) HP:0002084
14 aplasia/hypoplasia of the cerebellar vermis 56 32 Frequent (79-30%) HP:0006817
15 severe visual impairment 56 32 Very frequent (99-80%) HP:0001141
16 abnormality of the optic disc 56 32 Very frequent (99-80%) HP:0012795

UMLS symptoms related to Leber Congenital Amaurosis:


ataxia, static tremor, photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 RDH12 RPE65 RPGRIP1 SPATA7 TULP1 AIPL1
2 vision/eye MP:0005391 9.53 AIPL1 CEP290 CRB1 CRX GDF6 GUCY2D
3 pigmentation MP:0001186 9.43 CEP290 CRB1 CRX LCA5 RPE65 TULP1

Drugs & Therapeutics for Leber Congenital Amaurosis

Drugs for Leber Congenital Amaurosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 cysteine Nutraceutical Phase 1, Phase 2
2
acetic acid Approved, Nutraceutical Phase 1 64-19-7 176
3
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 11103-57-4, 68-26-8 445354
4 Adjuvants, Immunologic Phase 1
5 Micronutrients Phase 1
6 Protective Agents Phase 1
7
Retinol acetate Phase 1 127-47-9 10245972
8 Retinol palmitate Phase 1
9 Trace Elements Phase 1
10 Vitamins Phase 1
11 Lecithin Nutraceutical Phase 1
12 retinol Nutraceutical Phase 1

Interventional clinical trials:

(show all 18)
id Name Status NCT ID Phase
1 Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00999609 Phase 3
2 Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2
3 Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis Completed NCT00643747 Phase 1, Phase 2
4 Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) Recruiting NCT02946879 Phase 1, Phase 2
5 Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis Active, not recruiting NCT00749957 Phase 1, Phase 2
6 Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2 Active, not recruiting NCT01208389 Phase 1, Phase 2
7 Study to Evaluate QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Not yet recruiting NCT03140969 Phase 1, Phase 2
8 Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations Unknown status NCT00821340 Phase 1
9 Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01) Completed NCT01521793 Phase 1
10 Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Mutations Completed NCT01014052 Phase 1
11 Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) Recruiting NCT02781480 Phase 1
12 Safety Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00516477 Phase 1
13 Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations Active, not recruiting NCT00481546 Phase 1
14 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266
15 Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT Completed NCT02575430
16 Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy Completed NCT00422721
17 Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65 Recruiting NCT02714816
18 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Leber Congenital Amaurosis

Cochrane evidence based reviews: leber congenital amaurosis

Genetic Tests for Leber Congenital Amaurosis

Genetic tests related to Leber Congenital Amaurosis:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 29 24 TULP1

Anatomical Context for Leber Congenital Amaurosis

MalaCards organs/tissues related to Leber Congenital Amaurosis:

39
Retina, Eye, Testes, Pineal, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Leber Congenital Amaurosis:
id Tissue Anatomical CompartmentCell Relevance
1 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
2 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease

Publications for Leber Congenital Amaurosis

Articles related to Leber Congenital Amaurosis:

(show top 50) (show all 297)
id Title Authors Year
1
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. ( 28095138 )
2017
2
Available Evidence on Leber Congenital Amaurosis and Gene Therapy. ( 27686653 )
2017
3
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. ( 28109959 )
2017
4
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations. ( 28212877 )
2017
5
Peripapillary sparing in RDH12-associated Leber congenital amaurosis. ( 28513254 )
2017
6
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. ( 28471114 )
2017
7
Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. ( 28510626 )
2017
8
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. ( 28453600 )
2017
9
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. ( 27102010 )
2016
10
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis inA a large kindred. ( 27475985 )
2016
11
Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis. ( 27225770 )
2016
12
A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis. ( 27116508 )
2016
13
Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese. ( 27672588 )
2016
14
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands. ( 27375279 )
2016
15
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65. ( 27653967 )
2016
16
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. ( 26820066 )
2016
17
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. ( 27645772 )
2016
18
Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas. ( 27881908 )
2016
19
Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration. ( 27010695 )
2016
20
A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1). ( 26427419 )
2016
21
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. ( 27203561 )
2016
22
Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes. ( 26427408 )
2016
23
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. ( 27422788 )
2016
24
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. ( 27506978 )
2016
25
CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis. ( 27427859 )
2016
26
Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options. ( 26872607 )
2016
27
Personalized models reveal mechanistic and therapeutic insights into CEP290-associated Leber congenital amaurosis. ( 27868047 )
2016
28
Diagnostic application of an extensive gene panel for leber congenital amaurosis with severe genetic heterogeneity. ( 25445212 )
2015
29
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. ( 26097748 )
2015
30
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. ( 26147992 )
2015
31
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. ( 26010121 )
2015
32
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature. ( 26464178 )
2015
33
AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. ( 25965394 )
2015
34
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). ( 25921210 )
2015
35
A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing. ( 25988908 )
2015
36
Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes. ( 26165328 )
2015
37
Review and update on the molecular basis of Leber congenital amaurosis. ( 25685757 )
2015
38
Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis. ( 25416279 )
2015
39
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation. ( 26061163 )
2015
40
The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium. ( 25799540 )
2015
41
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. ( 26047050 )
2015
42
Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis. ( 26650897 )
2015
43
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. ( 26626312 )
2015
44
Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients. ( 26529047 )
2015
45
Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. ( 25752820 )
2015
46
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. ( 26018082 )
2015
47
Exudative vasculopathy in a child with Leber congenital amaurosis. ( 24767827 )
2014
48
A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis. ( 25096270 )
2014
49
Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes. ( 25148430 )
2014
50
Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. ( 24547928 )
2014

Variations for Leber Congenital Amaurosis

ClinVar genetic disease variations for Leber Congenital Amaurosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LCA5 NM_181714.3(LCA5): c.835C> T (p.Gln279Ter) single nucleotide variant Pathogenic rs121918165 GRCh37 Chromosome 6, 80203353: 80203353
2 PEX1 NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp) single nucleotide variant Pathogenic rs61750420 GRCh37 Chromosome 7, 92130876: 92130876
3 CRX NM_000554.5(CRX): c.648delC (p.Ser216Argfs) deletion Likely pathogenic rs869312175 GRCh38 Chromosome 19, 47839715: 47839715

Expression for Leber Congenital Amaurosis

Search GEO for disease gene expression data for Leber Congenital Amaurosis.

Pathways for Leber Congenital Amaurosis

GO Terms for Leber Congenital Amaurosis

Cellular components related to Leber Congenital Amaurosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.73 CEP290 IFT140 IQCB1 LCA5
2 cell projection GO:0042995 9.73 CEP290 IFT140 LCA5 RPGRIP1 SPATA7 TULP1
3 ciliary basal body GO:0036064 9.54 CEP290 IFT140 SPATA7
4 axoneme GO:0005930 9.5 IFT140 RPGRIP1 SPATA7
5 non-motile cilium GO:0097730 9.4 IFT140 RPGRIP1
6 cilium GO:0005929 9.35 CEP290 IFT140 LCA5 RPGRIP1 TULP1
7 photoreceptor outer segment GO:0001750 9.33 IFT140 IQCB1 TULP1
8 photoreceptor connecting cilium GO:0032391 9.02 CEP290 IFT140 IQCB1 RPGRIP1 SPATA7

Biological processes related to Leber Congenital Amaurosis according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.65 LRAT RDH12 RPE65
2 retina development in camera-type eye GO:0060041 9.65 IFT140 RD3 RPE65 RPGRIP1 TULP1
3 response to stimulus GO:0050896 9.65 AIPL1 CRX GUCY2D LRAT RD3 RDH12
4 photoreceptor cell maintenance GO:0045494 9.62 IQCB1 RDH12 SPATA7 TULP1
5 retina homeostasis GO:0001895 9.58 AIPL1 RPE65 TULP1
6 retinol metabolic process GO:0042572 9.54 LRAT RDH12 RPE65
7 detection of light stimulus involved in visual perception GO:0050908 9.49 RPE65 TULP1
8 vitamin A metabolic process GO:0006776 9.46 LRAT RPE65
9 eye photoreceptor cell development GO:0042462 9.46 CEP290 CRB1 RPGRIP1 TULP1
10 protein localization to photoreceptor outer segment GO:1903546 9.43 SPATA7 TULP1
11 visual perception GO:0007601 9.32 AIPL1 CRX GUCY2D LRAT RD3 RDH12

Sources for Leber Congenital Amaurosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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