LCA4
MCID: LBR014
MIFTS: 63

Leber Congenital Amaurosis 4 (LCA4)

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

Aliases & Classifications for Leber Congenital Amaurosis 4

MalaCards integrated aliases for Leber Congenital Amaurosis 4:

Name: Leber Congenital Amaurosis 4 57 12 53 75 29 6 15 73
Lca4 57 12 53 75
Amaurosis Congenita of Leber, Type 4 53
Leber Congenital Amaurosis, Type 4 40
Leber Congenital Amaurosis Type 4 53
Retinitis Pigmentosa, Juvenile 57
Retinitis Pigmentosa 73
Cone-Rod Dystrophy 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca


HPO:

32
leber congenital amaurosis 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 4

OMIM : 57 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' (Booij et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000; for cone-rod dystrophy, see 120970. (604393)

MalaCards based summary : Leber Congenital Amaurosis 4, also known as lca4, is related to cone-rod dystrophy 2 and cone-rod dystrophy 9. An important gene associated with Leber Congenital Amaurosis 4 is AIPL1 (Aryl Hydrocarbon Receptor Interacting Protein Like 1), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Drug metabolism - cytochrome P450. Affiliated tissues include eye, retina and bone, and related phenotypes are blindness and reduced visual acuity

Disease Ontology : 12 A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and has material basis in mutation in the AIPL1 gene on chromosome 17p13.

UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis 4: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Related Diseases for Leber Congenital Amaurosis 4

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3 Leber Congenital Amaurosis 4
Leber Congenital Amaurosis 5 Leber Congenital Amaurosis 9
Leber Congenital Amaurosis 12 Leber Congenital Amaurosis 10
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 11
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 16
Leber Congenital Amaurosis 17

Diseases related to Leber Congenital Amaurosis 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 34.4 AIPL1 CRX GUCY2D RPE65
2 cone-rod dystrophy 9 34.4 CRX GUCY2D
3 cone-rod dystrophy 8 34.4 CRX GUCY2D
4 retinitis pigmentosa 32.1 AIPL1 CA4 CRX GUCY2D PDE6A RPE65
5 leber congenital amaurosis 30.2 AIPL1 CRX GUCY2D NUB1 PDE6A RPE65
6 retinal degeneration 30.2 AIPL1 CRX GUCY2D RPE65
7 keratoconus 30.0 AIPL1 CRX GUCY2D RPE65
8 spondylometaphyseal dysplasia with cone-rod dystrophy 12.9
9 cone-rod dystrophy 3 12.9
10 cone-rod dystrophy 7 12.9
11 cone-rod dystrophy and hearing loss 12.8
12 cone-rod dystrophy, x-linked, 1 12.8
13 cone-rod dystrophy, x-linked, 3 12.8
14 cone-rod dystrophy 16 12.8
15 cone-rod dystrophy 5 12.8
16 cone-rod dystrophy 18 12.8
17 cone-rod dystrophy 10 12.8
18 cone-rod dystrophy 12 12.8
19 cone-rod dystrophy 19 12.8
20 cone-rod dystrophy 20 12.8
21 cone-rod dystrophy 6 12.8
22 cone-rod dystrophy 13 12.8
23 cone-rod dystrophy 11 12.8
24 cone-rod dystrophy 15 12.8
25 cone-rod dystrophy, x-linked, 2 12.7
26 cone-rod dystrophy 1 12.7
27 cone-rod dystrophy 21 12.7
28 cone-rod dystrophy 17 12.7
29 jalili syndrome 12.5
30 cone dystrophy 3 12.2
31 newfoundland rod-cone dystrophy 12.0
32 hypotrichosis, congenital, with juvenile macular dystrophy 11.6
33 leber congenital amaurosis 14 11.5
34 spondylometaphyseal dysplasia, axial 11.4
35 cleft lip-retinopathy syndrome 11.4
36 alstrom syndrome 11.3
37 leber congenital amaurosis 1 11.3
38 bardet-biedl syndrome 1 11.3
39 blue cone monochromacy 11.3
40 leber congenital amaurosis 3 11.3
41 leber congenital amaurosis 10 11.3
42 cone dystrophy 4 11.3
43 bardet-biedl syndrome 11.3
44 retinitis pigmentosa 14 11.2
45 retinal dystrophy, juvenile cataracts, and short stature syndrome 11.2
46 retinitis 10.7
47 amelogenesis imperfecta 10.6
48 spondyloepimetaphyseal dysplasia, strudwick type 10.6
49 stargardt disease 10.5
50 danon disease 10.3

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 4:



Diseases related to Leber Congenital Amaurosis 4

Symptoms & Phenotypes for Leber Congenital Amaurosis 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
pendular nystagmus
pale optic disc
macular atrophy
poor central vision or blindness from birth
keratoconus (in some patients)
more

Clinical features from OMIM:

604393

Human phenotypes related to Leber Congenital Amaurosis 4:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 blindness 32 HP:0000618
2 reduced visual acuity 32 HP:0007663
3 nyctalopia 32 HP:0000662
4 optic disc pallor 32 HP:0000543
5 keratoconus 32 occasional (7.5%) HP:0000563
6 cone/cone-rod dystrophy 32 HP:0000548
7 attenuation of retinal blood vessels 32 HP:0007843
8 pendular nystagmus 32 HP:0012043
9 macular atrophy 32 HP:0007401
10 undetectable light- and dark-adapted electroretinogram 32 HP:0007688

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 GUCY2D
2 Decreased viability GR00221-A-1 10.1 GUCY2D
3 Decreased viability GR00221-A-2 10.1 GUCY2D
4 Decreased viability GR00221-A-3 10.1 GUCY2D
5 Decreased viability GR00221-A-4 10.1 GUCY2D
6 Decreased viability GR00240-S-1 10.1 GUCY2D
7 Decreased viability GR00381-A-1 10.1 BOC PCSK7 UGT1A3 UGT1A9
8 Decreased viability GR00402-S-2 10.1 AIPL1 BOC CA4 CRX GUCY2D NUB1
9 no effect GR00402-S-1 9.58 AIPL1 BOC CA4 CRX GUCY2D NUB1

Drugs & Therapeutics for Leber Congenital Amaurosis 4

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 4

Genetic Tests for Leber Congenital Amaurosis 4

Genetic tests related to Leber Congenital Amaurosis 4:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 4 29 AIPL1

Anatomical Context for Leber Congenital Amaurosis 4

MalaCards organs/tissues related to Leber Congenital Amaurosis 4:

41
Eye, Retina, Bone, Testes, Bone Marrow, Brain, Colon

Publications for Leber Congenital Amaurosis 4

Articles related to Leber Congenital Amaurosis 4:

(show top 50) (show all 2094)
# Title Authors Year
1
Drosophila melanogaster: A Valuable Genetic Model Organism to Elucidate the Biology of Retinitis Pigmentosa. ( 30324448 )
2019
2
Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa. ( 29947567 )
2018
3
Characterization of Retinitis Pigmentosa Using Fluorescence Lifetime Imaging Ophthalmoscopy (FLIO). ( 29946494 )
2018
4
Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study. ( 29940899 )
2018
5
Quantification of Macular Microvascular Changes in Patients With Retinitis Pigmentosa Using Optical Coherence Tomography Angiography. ( 29365150 )
2018
6
Optical coherence tomography angiography of the macular microvasculature changes in retinitis pigmentosa. ( 28561452 )
2018
7
Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. ( 29800053 )
2018
8
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa. ( 29411205 )
2018
9
Patients and animal models of CNGI^1-deficient retinitis pigmentosa support gene augmentation approach. ( 29202463 )
2018
10
Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family. ( 29749994 )
2018
11
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. ( 29425069 )
2018
12
Aerobic Glycolysis Is Essential for Normal Rod Function and Controls Secondary Cone Death in Retinitis Pigmentosa. ( 29847794 )
2018
13
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene. ( 29625105 )
2018
14
Coping strategies, vision-related quality of life, and emotional health in managing retinitis pigmentosa: a survey study. ( 29378559 )
2018
15
A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family. ( 29892959 )
2018
16
Ultra-widefield imaging in Coats'-type retinitis pigmentosa. ( 29941749 )
2018
17
Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa. ( 29957067 )
2018
18
Correlation between aqueous flare and residual visual field area in retinitis pigmentosa. ( 29858180 )
2018
19
Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population. ( 29899460 )
2018
20
Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi. ( 29377744 )
2018
21
Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. ( 29087248 )
2018
22
A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa. ( 29973277 )
2018
23
Retinal Anatomy and Electrode Array Position in Retinitis Pigmentosa Patients after Argus II Implantation: an International Study. ( 29940167 )
2018
24
highroad Is a Carboxypetidase Induced by Retinoids to Clear Mutant Rhodopsin-1 in Drosophila Retinitis Pigmentosa Models. ( 29425495 )
2018
25
Expression Profiling Analysis Reveals Key MicroRNA-mRNA Interactions in Early Retinal Degeneration in Retinitis Pigmentosa. ( 29847644 )
2018
26
Eplerenone, a new treatment for an old problem: Retinitis pigmentosa with recalcitrant macular edema. ( 28624313 )
2018
27
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families. ( 29847639 )
2018
28
A splicing mutation in aryl hydrocarbon receptor associated with retinitis pigmentosa. ( 29931334 )
2018
29
Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa. ( 29345014 )
2018
30
AAV Gene Augmentation Therapy for CRB1-Associated Retinitis Pigmentosa. ( 29188511 )
2018
31
Intraobserver Repeatability and Interobserver Reproducibility of Ellipsoid Zone Measurements in Retinitis Pigmentosa. ( 29881650 )
2018
32
Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa. ( 29411010 )
2018
33
Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa. ( 29188504 )
2018
34
Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial. ( 29879277 )
2018
35
Nonclinical Safety Evaluation of scAAV8-<i>RLBP1</i>for Treatment of<i>RLBP1</i>Retinitis Pigmentosa. ( 29359172 )
2018
36
A novel mutation in<i>PRPF31</i>, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer. ( 29375987 )
2018
37
Rasagiline delays retinal degeneration in a mouse model of retinitis pigmentosa via modulation of Bax/Bcl-2 expression. ( 29372592 )
2018
38
Methodological Insights for Randomized Clinical Trials of Retinitis Pigmentosa: Lessons Learned From a Trial of Valproic Acid. ( 29879289 )
2018
39
Application of empirical Bayes methods to predict the rate of decline in ERG at the individual level among patients with retinitis pigmentosa. ( 29855067 )
2018
40
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa. ( 29437494 )
2018
41
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ( 29192808 )
2018
42
EDI-OCT evaluation of choroidal thickness in retinitis pigmentosa. ( 28604982 )
2018
43
Gene Correction Reverses Ciliopathy and Photoreceptor Loss in iPSC-Derived Retinal Organoids from Retinitis Pigmentosa Patients. ( 29874627 )
2018
44
Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing. ( 29437900 )
2018
45
Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa. ( 29305715 )
2018
46
Improved retinal and visual function following panmacular subthreshold diode micropulse laser for retinitis pigmentosa. ( 29449615 )
2018
47
Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa. ( 30291136 )
2018
48
Intraocular cytokine profile and autoimmune reactions in retinitis pigmentosa, age-related macular degeneration, glaucoma and cataract. ( 30298670 )
2018
49
Prediction of Visual Acuity After Cataract Surgery Using Optical Coherence Tomography Findings in Eyes With Retinitis Pigmentosa. ( 30114303 )
2018
50
Multimodal imaging of the carriers of choroideremia and X-linked retinitis pigmentosa. ( 30364247 )
2018

Variations for Leber Congenital Amaurosis 4

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 4:

75
# Symbol AA change Variation ID SNP ID
1 AIPL1 p.Cys239Arg VAR_010139 rs62637012
2 AIPL1 p.Arg270His VAR_067165

ClinVar genetic disease variations for Leber Congenital Amaurosis 4:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 AIPL1 NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter) single nucleotide variant Pathogenic rs62637014 GRCh37 Chromosome 17, 6329101: 6329101
2 AIPL1 NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter) single nucleotide variant Pathogenic rs62637014 GRCh38 Chromosome 17, 6425781: 6425781
3 AIPL1 NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs) deletion Pathogenic rs62637016 GRCh37 Chromosome 17, 6328924: 6328925
4 AIPL1 NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs) deletion Pathogenic rs62637016 GRCh38 Chromosome 17, 6425604: 6425605
5 AIPL1 NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg) single nucleotide variant Pathogenic rs62637012 GRCh37 Chromosome 17, 6330004: 6330004
6 AIPL1 NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg) single nucleotide variant Pathogenic rs62637012 GRCh38 Chromosome 17, 6426684: 6426684
7 AIPL1 NM_014336.4(AIPL1): c.1126C> T (p.Pro376Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61757484 GRCh37 Chromosome 17, 6328809: 6328809
8 AIPL1 NM_014336.4(AIPL1): c.1126C> T (p.Pro376Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs61757484 GRCh38 Chromosome 17, 6425489: 6425489
9 AIPL1 NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro) single nucleotide variant Pathogenic rs62637010 GRCh37 Chromosome 17, 6330254: 6330254
10 AIPL1 NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro) single nucleotide variant Pathogenic rs62637010 GRCh38 Chromosome 17, 6426934: 6426934
11 AIPL1 NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn) single nucleotide variant Pathogenic rs62637011 GRCh37 Chromosome 17, 6330226: 6330226
12 AIPL1 NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn) single nucleotide variant Pathogenic rs62637011 GRCh38 Chromosome 17, 6426906: 6426906
13 AIPL1 NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser) single nucleotide variant Likely pathogenic rs142326926 GRCh37 Chromosome 17, 6329935: 6329935
14 AIPL1 NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser) single nucleotide variant Likely pathogenic rs142326926 GRCh38 Chromosome 17, 6426615: 6426615
15 AIPL1 NM_014336.4(AIPL1): c.905G> T (p.Arg302Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62637015 GRCh37 Chromosome 17, 6329030: 6329030
16 AIPL1 NM_014336.4(AIPL1): c.905G> T (p.Arg302Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs62637015 GRCh38 Chromosome 17, 6425710: 6425710
17 AIPL1 NM_014336.4(AIPL1): c.267C> T (p.Cys89=) single nucleotide variant Conflicting interpretations of pathogenicity rs62653020 GRCh37 Chromosome 17, 6337248: 6337248
18 AIPL1 NM_014336.4(AIPL1): c.267C> T (p.Cys89=) single nucleotide variant Conflicting interpretations of pathogenicity rs62653020 GRCh38 Chromosome 17, 6433928: 6433928
19 AIPL1 NM_014336.4(AIPL1): c.341C> T (p.Thr114Ile) single nucleotide variant Benign/Likely benign rs8069375 GRCh37 Chromosome 17, 6331762: 6331762
20 AIPL1 NM_014336.4(AIPL1): c.341C> T (p.Thr114Ile) single nucleotide variant Benign/Likely benign rs8069375 GRCh38 Chromosome 17, 6428442: 6428442
21 AIPL1 NM_014336.4(AIPL1): c.401A> T (p.Tyr134Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs16955851 GRCh37 Chromosome 17, 6331702: 6331702
22 AIPL1 NM_014336.4(AIPL1): c.401A> T (p.Tyr134Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs16955851 GRCh38 Chromosome 17, 6428382: 6428382
23 AIPL1 NM_014336.4(AIPL1): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 6433930: 6433930
24 AIPL1 NM_014336.4(AIPL1): c.265T> C (p.Cys89Arg) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 6337250: 6337250
25 AIPL1 NM_014336.4(AIPL1): c.238C> T (p.Arg80Trp) single nucleotide variant Uncertain significance rs748210823 GRCh38 Chromosome 17, 6433957: 6433957
26 AIPL1 NM_014336.4(AIPL1): c.238C> T (p.Arg80Trp) single nucleotide variant Uncertain significance rs748210823 GRCh37 Chromosome 17, 6337277: 6337277

Expression for Leber Congenital Amaurosis 4

Search GEO for disease gene expression data for Leber Congenital Amaurosis 4.

Pathways for Leber Congenital Amaurosis 4

Pathways related to Leber Congenital Amaurosis 4 according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.15 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
2
Show member pathways
12.76 RPE65 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7
3 12.51 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
4
Show member pathways
12.28 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
5 12.1 UGT1A1 UGT1A3 UGT1A6 UGT1A7 UGT1A9 UGT2B7
6
Show member pathways
11.98 GUCY2D PDE6A RPE65
7
Show member pathways
11.79 UGT1A1 UGT1A3 UGT1A9 UGT2B7
8 11.74 GUCY2D PDE6A RPE65
9
Show member pathways
11.74 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A8 UGT1A9
10
Show member pathways
11.63 UGT1A1 UGT1A6 UGT1A9 UGT2B7
11 11.51 UGT1A1 UGT1A3 UGT1A6 UGT1A7 UGT1A9
12
Show member pathways
11.4 UGT1A10 UGT1A3 UGT1A8 UGT2B7
13
Show member pathways
11.38 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
14
Show member pathways
11.32 UGT1A1 UGT1A8 UGT2B7
15 11.3 UGT1A1 UGT1A3 UGT1A6 UGT1A9
16
Show member pathways
11.27 UGT1A1 UGT1A3 UGT1A6 UGT1A8 UGT1A9 UGT2B7
17 11.14 GUCY2D PDE6A RPE65
18
Show member pathways
10.99 UGT1A1 UGT1A9
19
Show member pathways
10.97 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
20 10.96 UGT1A10 UGT1A3 UGT1A6 UGT1A8 UGT1A9 UGT2B7
21 10.86 UGT1A3 UGT1A9 UGT2B7
22
Show member pathways
10.79 UGT1A9 UGT2B7
23 10.27 UGT1A1 UGT2B7

GO Terms for Leber Congenital Amaurosis 4

Cellular components related to Leber Congenital Amaurosis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.81 RPE65 SLC35A2 UGT1A1 UGT1A10 UGT1A3 UGT1A6
2 endoplasmic reticulum membrane GO:0005789 9.56 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
3 photoreceptor disc membrane GO:0097381 9.37 GUCY2D PDE6A
4 intracellular membrane-bounded organelle GO:0043231 9.28 RPE65 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7
5 integral component of membrane GO:0016021 10.13 BOC CA4 GUCY2D PCSK7 SLC35A2 UGT1A1
6 membrane GO:0016020 10.13 BOC CA4 GUCY2D PCSK7 PDE6A RPE65

Biological processes related to Leber Congenital Amaurosis 4 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.89 AIPL1 CRX GUCY2D PDE6A RPE65
2 visual perception GO:0007601 9.77 AIPL1 CRX GUCY2D PDE6A RPE65
3 retinoic acid metabolic process GO:0042573 9.72 UGT1A1 UGT1A3 UGT1A7 UGT1A8 UGT1A9
4 cellular glucuronidation GO:0052695 9.7 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A9
5 steroid metabolic process GO:0008202 9.69 UGT1A1 UGT1A8 UGT2B7
6 negative regulation of catalytic activity GO:0043086 9.65 UGT1A1 UGT1A7 UGT1A8
7 flavone metabolic process GO:0051552 9.65 UGT1A1 UGT1A10 UGT1A7 UGT1A8 UGT1A9
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.58 AIPL1 GUCY2D PDE6A
9 drug metabolic process GO:0017144 9.52 UGT1A1 UGT1A7
10 flavonoid glucuronidation GO:0052696 9.5 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
11 coumarin metabolic process GO:0009804 9.46 UGT1A7 UGT1A8
12 negative regulation of steroid metabolic process GO:0045939 9.43 UGT1A1 UGT1A8
13 xenobiotic glucuronidation GO:0052697 9.17 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8

Molecular functions related to Leber Congenital Amaurosis 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.95 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
2 transferase activity, transferring glycosyl groups GO:0016757 9.92 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
3 protein heterodimerization activity GO:0046982 9.91 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
4 glucuronosyltransferase activity GO:0015020 9.86 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
5 retinoic acid binding GO:0001972 9.76 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
6 enzyme inhibitor activity GO:0004857 9.61 UGT1A1 UGT1A7 UGT1A8
7 transferase activity, transferring hexosyl groups GO:0016758 9.56 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
8 steroid binding GO:0005496 9.48 UGT1A1 UGT1A8
9 UDP-glycosyltransferase activity GO:0008194 9.23 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8
10 transferase activity GO:0016740 10.06 UGT1A1 UGT1A10 UGT1A3 UGT1A6 UGT1A7 UGT1A8

Sources for Leber Congenital Amaurosis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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62 PubMed
64 QIAGEN
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