CRB
MCID: LBR001
MIFTS: 83

Leber Congenital Amaurosis (CRB) malady

Eye diseases, Neuronal diseases categories

Summaries for Leber Congenital Amaurosis

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Leber congenital amaurosis 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 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. at least 13 types of this condition have been described, which are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities. last updated: 7/24/2012

MalaCards: Leber Congenital Amaurosis, also known as leber congenital amaurosis 14, is related to retinitis and retinal degeneration, and has symptoms including glaucoma, x-linked recessive inheritance and autosomal recessive inheritance. An important gene associated with Leber Congenital Amaurosis is RDH12 (retinol dehydrogenase 12 (all-trans/9-cis/11-cis)), and among its related pathways are Signaling by GPCR and Visual phototransduction. The compounds vitamin a and 11-cis-retinol have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related mouse phenotypes are nervous system and vision/eye.

Disease Ontology:8 An eye disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Genetics Home Reference:21 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.

Description from OMIM:46 204100, 204000, 610142, 611755, 612712 604537, 604393, 604232, 613341, 610612, 613428, 613464, 613575, 613581, 613582, 613617, 613731, 613750, 613756, 613758, 613767, 613769, 613794, 613801, 613809, 613810, 613827, 613861, 613862, 613983, 614180, 614181, 614494, 600132, 600138, 600852, 601414, 601718, 602594, 602772, 606068, 607921, 608133, 608380, 609913, 609923, 610282, 610359, 610599, 611131, 612095, 612165, 612572, 612943, 613194, 180100, 180104, 180105, 180210, 268000, 268025, 268060, 300029, 300155, 300424, 300605, 312600, 312612, 400004, 600059, 600105, 614500, 615233, 613660, 615434, 615565 more

GeneReviews summary for lca

Aliases & Classifications for Leber Congenital Amaurosis

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases, Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
retinitis pigmentosa:
Inheritance: Autosomal dominant,Autosomal recessive,Mitochondrial inheritance,X-linked recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

leber congenital amaurosis 8 19 42 21 10 60
leber congenital amaurosis 14 9 42 22 46 60
leber congenital amaurosis 13 9 42 22 46 60
leber's amaurosis 8 42 21
lca 19 42 21
congenital retinal blindness 42 21
leber's congenital amaurosis 8 20
retinitis pigmentosa 48 60
leber's congenital tapetoretinal degeneration 42
leber congenital tapetoretinal degeneration 21
hereditary epithelial dysplasia of retina 21
congenital absence of the rods and cones 42
congenital amaurosis of retinal origin 21
amaurosis congenita of leber, type 1 60
dysgenesis neuroepithelialis retinae 21
leber congenital amaurosis type 14 8
leber congenital amaurosis type 13 8
heredoretinopathia congenitalis 21
amaurosis congenita of leber i 8
amaurosis, leber congenital 21
lebers congenital amaurosis 44
hereditary retinal aplasia 21
leber abiotrophy 21
leber's disease 8
lca14 42
lca13 42
crb 21


Related Diseases for Leber Congenital Amaurosis

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17GeneCards, 18GeneDecks
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Diseases in the Leber Congenital Amaurosis family:

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

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

(show top 50)    (show all 469)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis31.5RHO
2retinal degeneration30.9IMPDH1, RPE65, AIPL1, NRL, PRPH2, RHO
3rhyns syndrome30.9RGR, LRAT, IMPDH1, AIPL1, NRL, PRPH2
4keratoconus30.7AIPL1
5retinal disease30.6BEST1, IMPDH1, AIPL1, NRL, PRPH2, RHO
6night blindness30.6RPE65, RPGR, PDE6B, RHO, LRAT
7congenital stationary night blindness30.3RHO, PDE6B, RPE65
8age related macular degeneration30.3RHO
9stargardt disease30.3RHO, CRX
10fundus dystrophy30.1CDHR1, AIPL1, RHO, MERTK, CRX, CRB1
11cone-rod dystrophy 230.1AIPL1, PRPH2, RHO, CRX, GUCA1B, TULP1
12fundus albipunctatus30.1PRPH2, RHO
13retinitis pigmentosa10.8
14macular retinal edema10.7
15cystoid macular edema10.7
16leber congenital amaurosis 310.7
17leber congenital amaurosis 110.6
18leber congenital amaurosis 410.6
19leber congenital amaurosis 610.6
20leber congenital amaurosis 1110.6
21leber congenital amaurosis 210.6
22leber congenital amaurosis 910.6
23leber congenital amaurosis 1510.6
24neuropathy ataxia retinitis pigmentosa syndrome10.6
25leber congenital amaurosis 1010.6
26leber congenital amaurosis 1210.6
27leber congenital amaurosis 510.6
28leber congenital amaurosis 710.6
29leber congenital amaurosis 810.6
30posterior column ataxia with retinitis pigmentosa10.5
31leber congenital amaurosis 1610.5
32leber congenital amaurosis 1710.5
33choroiditis10.5
34choroideremia10.4
35nmnat1-related leber congenital amaurosis10.4
36kcnj13-related leber congenital amaurosis10.4
37autosomal dominant disease10.4
38autosomal recessive disease10.4
39muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
40x-linked intellectual disability-retinitis pigmentosa syndrome10.4
41refsum disease10.4
42retinitis pigmentosa 310.4
43retinitis pigmentosa 1110.4
44retinitis pigmentosa 910.4
45polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
46cone-rod dystrophy10.3
47cone dystrophy10.3
48optic atrophy10.3
49retinal dystrophy, early-onset, severe10.3
50gucy2d-related leber congenital amaurosis10.3

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



Diseases related to leber congenital amaurosis

Clinical Features for Leber Congenital Amaurosis

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

204100, 204000, 610142, 611755, 612712, 604537, 604393, 604232, 613341, 610612 613428, 613464, 613575, 613581, 613582, 613617, 613731, 613750, 613756, 613758, 613767, 613769, 613794, 613801, 613809, 613810, 613827, 613861, 613862, 613983, 614180, 614181, 614494, 600132, 600138, 600852, 601414, 601718, 602594, 602772, 606068, 607921, 608133, 608380, 609913, 609923, 610282, 610359, 610599, 611131, 612095, 612165, 612572, 612943, 613194, 180100, 180104, 180105, 180210, 268000, 268025, 268060, 300029, 300155, 300424, 300605, 312600, 312612, 400004, 600059, 600105, 614500, 615233, 613660, 615434, 615565 more

Clinical synopsis from OMIM:

612712

Symptoms:

48 (show all 29)
  • glaucoma
  • x-linked recessive inheritance
  • autosomal recessive inheritance
  • autosomal dominant inheritance
  • keratoconus/keratoglobus
  • cataract/lens opacification
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • hyperinsulinism/hyperinsulinemia
  • generalized obesity
  • insulin-independent/type 2 diabetes
  • hypereflexia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • late puberty/hypogonadism/hypogenitalism
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • night blindness/hemeralopia
  • mild visual loss/impaired visual acuity
  • photophobia
  • abnormal erg/electroretinogram/electroretinography
  • nystagmus
  • broad nasal root
  • anteverted nares/nostrils
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • abnormal scarring/cheloids/hypertrophic scars
  • micropenis/small penis/agenesis
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • retinal vascular anomalies/retinal telangiectasia

Drugs & Therapeutics for Leber Congenital Amaurosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Leber Congenital Amaurosis

Drug clinical trials:

Search ClinicalTrials for Leber Congenital Amaurosis

Search NIH Clinical Center for Leber Congenital Amaurosis

Search CenterWatch for Leber Congenital Amaurosis

Genetic Tests for Leber Congenital Amaurosis

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20GeneTests, 22GTR
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Genetic tests related to Leber Congenital Amaurosis:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis20 TULP1
2 Leber Congenital Amaurosis Multi-Gene Panels20
3 Leber Congenital Amaurosis 1422
4 Leber Congenital Amaurosis 1322

Anatomical Context for Leber Congenital Amaurosis

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Leber Congenital Amaurosis:

32
Retina, Eye, Testes, Pineal, Brain

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Leber Congenital Amaurosis:
id TissueAnatomical CompartmentCell Relevance
1 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
2 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease

Animal Models for Leber Congenital Amaurosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.6MERTK, RHO, PRPH2, NRL, AIPL1, CRX
2MP:000539110.5RPE65, BEST1, RGR, LRAT, CDHR1, AIPL1
3MP:000118610.2PRPH2, RPE65, TULP1, PDE6B, CRB1, CRX

Publications for Leber Congenital Amaurosis

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50PubMed
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Articles related to Leber Congenital Amaurosis:

(show top 50)    (show all 231)
idTitleAuthorsYear
1
Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis. (23663011)
2013
2
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. (23946133)
2013
3
Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis. (23661368)
2013
4
AAV-mediated gene therapy in the guanylate cyclase (RetGC1/RetGC2) double knockout mouse model of Leber congenital amaurosis. (23210611)
2013
5
Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family. (23443024)
2013
6
Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy]. (23351689)
2013
7
Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290. (23343883)
2012
8
Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients. (22812667)
2012
9
Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients. (22509104)
2012
10
Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis. (21169527)
2011
11
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. (21850168)
2011
12
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects. (19584904)
2010
13
Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. (20384479)
2010
14
RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. (21078983)
2010
15
Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. (19959640)
2010
16
Novel human pathological mutations. Gene symbol: RPE65. Disease: Leber congenital amaurosis. (21488244)
2010
17
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. (19117922)
2009
18
CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis. (19407021)
2009
19
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex. (18408180)
2008
20
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. (18774912)
2008
21
Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa. (18079693)
2007
22
Novel TULP1 mutation causing Leber congenital amaurosis or early onset retinal degeneration. (17962469)
2007
23
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. (16505055)
2006
24
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. (17032058)
2006
25
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. (16909394)
2006
26
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of Leber congenital amaurosis. (16936081)
2006
27
Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis. (16643894)
2006
28
Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis. (16250670)
2005
29
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). (15765048)
2005
30
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. (16123401)
2005
31
The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments. (15347646)
2004
32
Thirty-year follow-up of a patient with Leber congenital amaurosis and novel RPE65 mutations. (14962443)
2004
33
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. (15249368)
2004
34
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis. (14517541)
2003
35
Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis. (12208271)
2002
36
The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina. (11929855)
2002
37
Molecular genetics of Leber congenital amaurosis. (12015276)
2002
38
Implications of genetic analysis in Leber congenital amaurosis. (11231777)
2001
39
Screening for CRX gene mutations in Chinese patients with Leber congenital amaurosis and mutational phenotype. (11449318)
2001
40
Recurrent keratoconus in a patient with Leber congenital amaurosis. (10832707)
2000
41
Mutations in a new photoreceptor-pineal gene on 17p cause leber congenital amaurosis. Nat gen 2000;24:79-83 (10927016)
2000
42
Mutational analysis and clinical correlation in Leber congenital amaurosis. (11035546)
2000
43
A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13. (10711674)
2000
44
A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan. (10636733)
1999
45
Vision in patients with leber congenital amaurosis. (9046276)
1997
46
New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis. (9268092)
1997
47
Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients. (8892367)
1996
48
Leber congenital amaurosis and its association with keratoconus and keratoglobus. (8195961)
1994
49
Leber Congenital Amaurosis (20301475)
1993
50
The optic disc in Leber congenital amaurosis. (1512668)
1992

Genetic Variations for Leber Congenital Amaurosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Leber Congenital Amaurosis:

62 (show all 11)
id Symbol AA change Variation ID SNP ID
1LRATp.Ser175ArgVAR_018386
2RDH12p.Thr49MetVAR_020858rs28940314
3RDH12p.Ile51AsnVAR_020859
4RDH12p.Leu99IleVAR_020860rs28940315
5RDH12p.His151AspVAR_020861
6RDH12p.His151AsnVAR_020862
7RDH12p.Ser175ProVAR_020863
8RDH12p.Tyr226CysVAR_020864rs28940313
9RDH12p.Pro230AlaVAR_020865
10RDH12p.Gly76ArgVAR_064166
11RDH12p.Ala126ValVAR_064169

Expression for genes affiliated with Leber Congenital Amaurosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leber Congenital Amaurosis

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

Pathways for genes affiliated with Leber Congenital Amaurosis

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Sources:
53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore
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Compounds for genes affiliated with Leber Congenital Amaurosis

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Leber Congenital Amaurosis according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1vitamin a44 11 2412.8RPE65, RDH12, RHO, AIPL1, LRAT, RGR
211-cis-retinol44 2411.7RGR, LRAT, RHO, RPE65
3retinoid4410.7RPE65, CRX, RHO, LRAT, RGR
4cgmp44 2811.7RPGR, PDE6B, GUCA1B, RHO
5retinyl ester44 2411.7LRAT, RPE65
6guanylate4410.6GUCA1B, CRB1, RHO
7sildenafil citrate5910.5PDE6G, PDE6B
8leucine4410.5NRL, RHO, CRX, PDE6B
9cilostamide59 44 2812.5PDE6G, PDE6B
10(r)-(-)-rolipram5910.4PDE6G, PDE6B
11isotretinoin44 1111.2LRAT, RHO

GO Terms for genes affiliated with Leber Congenital Amaurosis

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16Gene Ontology
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Cellular components related to Leber Congenital Amaurosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:09738110.6RHO, GUCA1B, PDE6B, PDE6G
2photoreceptor outer segmentGO:00175010.5RPGR, TULP1, MERTK, RHO
3photoreceptor outer segment membraneGO:04262210.5CDHR1, RHO
4photoreceptor inner segmentGO:00191710.4AIPL1, RHO, TULP1
5photoreceptor inner segment membraneGO:06034210.2RHO, RDH12

Biological processes related to Leber Congenital Amaurosis according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00760110.9BEST1, RPE65, RPGR, TULP1, PDE6G, PDE6B
2phototransduction, visible lightGO:00760310.8RPE65, PDE6G, PDE6B, RDH12, GUCA1B, RHO
3retina development in camera-type eyeGO:06004110.8TULP1, PDE6B, CRX, MERTK, RHO, PRPH2
4regulation of rhodopsin mediated signaling pathwayGO:02240010.8PDE6G, PDE6B, GUCA1B, RHO
5response to stimulusGO:05089610.8RPGR, CRX, NRL, SPATA7
6retinoid metabolic processGO:00152310.7RPE65, RDH12, RHO, LRAT
7rhodopsin mediated signaling pathwayGO:01605610.7RHO, GUCA1B, PDE6B, PDE6G
8eye photoreceptor cell developmentGO:04246210.7CRB1, TULP1, RPGR
9photoreceptor cell maintenanceGO:04549410.7TULP1, RDH12, CDHR1
10regulation of rhodopsin gene expressionGO:00746810.6NRL, RPE65
11vitamin A metabolic processGO:00677610.6LRAT, RPE65
12protein-chromophore linkageGO:01829810.5RGR, RHO
13retinol metabolic processGO:04257210.5RDH12, LRAT
14phagocytosisGO:00690910.5MERTK, TULP1
15phototransductionGO:00760210.4RGR, TULP1
16positive regulation of phagocytosisGO:05076610.2MERTK, TULP1

Molecular functions related to Leber Congenital Amaurosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:04755510.5PDE6B, PDE6G
2photoreceptor activityGO:00988110.4RGR, RHO
3leucine zipper domain bindingGO:04352210.2NRL, CRX

Products for genes affiliated with Leber Congenital Amaurosis

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Sources for Leber Congenital Amaurosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet