CRB
MCID: LBR001
MIFTS: 81

Leber Congenital Amaurosis (CRB) malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories
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Summaries for Leber Congenital Amaurosis

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 blindness, and has symptoms including ophthalmoplegia/ophthalmoparesis/oculomotor palsy, night blindness/hemeralopia and abnormal scarring/cheloids/hypertrophic scars. 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 Chemical carcinogenesis and Vitamin A and carotenoid metabolism. The compounds 11-cis-retinol and vitamin a have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related mouse phenotypes are cellular and pigmentation.

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:47 613341, 611755, 204000, 604537, 610142 204100, 612712, 604232, 610612, 604393, 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, 615780, 613660, 615725, 615434, 615565 more

GeneReviews summary for lca

Aliases & Classifications for Leber Congenital Amaurosis

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49Orphanet, 62UMLS, 8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 20GeneTests, 9diseasecard, 22GTR, 47OMIM, 45Novoseek, 58SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Orphanet: 49 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

49
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 43 21 10 62
leber congenital amaurosis 14 9 43 22 47 62
leber congenital amaurosis 13 9 43 22 47 62
leber's amaurosis 8 43 21
lca 19 43 21
leber's congenital amaurosis 8 20
congenital retinal blindness 43 21
retinitis pigmentosa 49 62
leber's congenital tapetoretinal degeneration 43
leber congenital tapetoretinal degeneration 21
leber's congenital tapetoretinal dysplasia 43
hereditary epithelial dysplasia of retina 21
congenital absence of the rods and cones 43
congenital amaurosis of retinal origin 21
amaurosis congenita of leber, type 1 62
dysgenesis neuroepithelialis retinae 21
leber congenital amaurosis type 13 8
leber congenital amaurosis type 14 8
heredoretinopathia congenitalis 21
amaurosis congenita of leber i 8
lebers congenital amaurosis 45
amaurosis, leber congenital 21
hereditary retinal aplasia 21
leber abiotrophy 21
leber's disease 8
lca13 43
lca14 43
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 15 Leber Congenital Amaurosis 16
Leber Congenital Amaurosis 2 Leber Congenital Amaurosis 3
Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 6 Leber Congenital Amaurosis 7
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 9
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 493)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis31.8RHO
2blindness31.0RHO, NRL, CRB1, CRX, PDE6B, RPGR
3retinal degeneration31.0NRL, CRB1, CRX, PDE6B, RPGR, MERTK
4rhyns syndrome31.0CRX, PDE6B, RPGR, RPE65, MERTK, GUCA1B
5retinitis pigmentosa 330.9RPGR
6night blindness30.8PDE6B, ABCA4, RPE65, RPGR, RHO, LRAT
7congenital stationary night blindness30.5RHO, PDE6B, RPE65
8stargardt disease30.5ABCA4, RHO, CRX
9severe early-childhood-onset retinal dystrophy30.5LRAT, ABCA4
10age related macular degeneration30.5RHO
11usher syndrome30.5USH2A, RPGR
12cone-rod dystrophy 230.4CRX, RPGR, RPE65, GUCA1B, TULP1, ABCA4
13fundus dystrophy30.1RPGR, RPE65, MERTK, BEST1, LRAT, TULP1
14retinitis pigmentosa10.9
15cystoid macular edema10.7
16leber congenital amaurosis 310.7
17leber congenital amaurosis 110.7
18leber congenital amaurosis 410.7
19leber congenital amaurosis 610.7
20leber congenital amaurosis 1110.7
21leber congenital amaurosis 1210.7
22leber congenital amaurosis 1510.7
23leber congenital amaurosis 210.7
24leber congenital amaurosis 910.7
25leber congenital amaurosis 1010.6
26leber congenital amaurosis 510.6
27leber congenital amaurosis 710.6
28leber congenital amaurosis 810.6
29neuropathy ataxia retinitis pigmentosa syndrome10.6
30ataxia10.6
31posterior column ataxia with retinitis pigmentosa10.6
32retinitis pigmentosa 210.6
33leber congenital amaurosis 1610.5
34leber congenital amaurosis 1710.5
35choroiditis10.5
36macular dystrophy10.5
37choroideremia10.5
38keratoconus10.5
39gucy2d-related leber congenital amaurosis10.5
40rpe65-related leber congenital amaurosis10.5
41aipl1-related leber congenital amaurosis10.5
42nmnat1-related leber congenital amaurosis10.5
43kcnj13-related leber congenital amaurosis10.5
44posterior column ataxia10.5
45muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.4
46retinitis pigmentosa 1710.4
47retinitis pigmentosa 910.4
48polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.4
49x-linked intellectual disability-retinitis pigmentosa syndrome10.4
50refsum disease10.4

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



Diseases related to leber congenital amaurosis

Symptoms for Leber Congenital Amaurosis

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

612712

Clinical features from OMIM:

613341, 611755, 204000, 604537, 610142, 204100, 612712, 604232, 610612, 604393 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, 615780, 613660, 615725, 615434, 615565 more

Symptoms:

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

Drugs & Therapeutics for Leber Congenital Amaurosis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Leber Congenital Amaurosis

Search NIH Clinical Center 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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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Leber Congenital Amaurosis:

33
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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37MGI
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MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538410.3ARL6, IMPDH1, RDH12, RHO, PDE6B, MERTK
2MP:000118610.2ABCA4, RHO, CRB1, PDE6B, RPE65, MERTK
3MP:000539110.0ARL6, ABCA4, TULP1, LRAT, USH2A, GUCA1B
4MP:00036319.9USH2A, PDE6B, RPGR, RPE65, MERTK, LRAT
5MP:00053859.9RHO, PDE6B, CRX, MERTK, TULP1, ABCA4

Publications for Leber Congenital Amaurosis

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52PubMed
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Articles related to Leber Congenital Amaurosis:

(show top 50)    (show all 227)
idTitleAuthorsYear
1
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations. (23341016)
2013
2
Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis. (23663011)
2013
3
Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son. (24093488)
2013
4
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. (22842230)
2012
5
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation. (23344081)
2012
6
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. (21602930)
2011
7
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. (21862650)
2011
8
Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency. (21671801)
2011
9
Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis. (21880665)
2011
10
Dietary 9-cis-I^,I^-carotene fails to rescue vision in mouse models of leber congenital amaurosis. (21862692)
2011
11
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects. (19584904)
2010
12
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. (20805370)
2010
13
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. (20006823)
2009
14
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. (19117922)
2009
15
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. (19503738)
2009
16
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. (18209734)
2008
17
Molecular characterization of Leber congenital amaurosis in Koreans. (18682808)
2008
18
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex. (18408180)
2008
19
Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. (18484312)
2008
20
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis. (18682814)
2008
21
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. (17964524)
2007
22
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. (18055816)
2007
23
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. (17546029)
2007
24
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. (18055821)
2007
25
Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. (17960108)
2007
26
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. (17345604)
2007
27
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. (16505055)
2006
28
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (16806805)
2006
29
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. (16942444)
2006
30
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. (17032058)
2006
31
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. (16384941)
2006
32
From gene to disease; Leber congenital amaurosis (LCA)]. (16261712)
2005
33
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype- phenotype correlations as a strategy for molecular diagnosis. (15024725)
2004
34
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. (15365178)
2004
35
Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. (15322982)
2004
36
Leber congenital amaurosis associated with optic disk neovascularization and vitreous hemorrhage. (12719091)
2003
37
Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene. (12552256)
2003
38
Visual improvement in Leber congenital amaurosis and the CRX genotype. (11910559)
2002
39
Mutations in the CRB1 gene cause Leber congenital amaurosis. (11231775)
2001
40
Recurrent keratoconus in a patient with Leber congenital amaurosis. (10832707)
2000
41
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
42
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. (9537410)
1998
43
Vision in patients with leber congenital amaurosis. (9046276)
1997
44
Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients. (8892367)
1996
45
Leber congenital amaurosis and its association with keratoconus and keratoglobus. (8195961)
1994
46
Leber Congenital Amaurosis (20301475)
1993
47
Central nervous system involvement in Leber congenital amaurosis. (1512663)
1992
48
Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis. (1338765)
1992
49
Myelination of the optic radiation in Leber congenital amaurosis. (1443398)
1992
50
Leber congenital amaurosis in an infant with Down syndrome. (1387515)
1992

Variations for Leber Congenital Amaurosis

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis:

64 (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

Clinvar genetic disease variations for Leber Congenital Amaurosis:

1 (show all 27)
id Gene Name Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5NM_152443.2(RDH12): c.677A> G (p.Tyr226Cys)single nucleotide variantPathogenicrs28940313GRCh37Chr 14, 68195926: 68195926
6NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs)deletionPathogenicrs386834261GRCh37Chr 14, 68196055: 68196059
7RDH12NM_152443.2(RDH12): c.565C> T (p.Gln189Ter)single nucleotide variantPathogenicrs104894470GRCh37Chr 14, 68193814: 68193814
8RDH12NM_152443.2(RDH12): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicrs28940314GRCh37Chr 14, 68191267: 68191267
9RDH12NM_152443.2(RDH12): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs104894471GRCh37Chr 14, 68191305: 68191305
10RDH12NM_152443.2(RDH12): c.379G> T (p.Gly127Ter)single nucleotide variantPathogenicrs104894474GRCh37Chr 14, 68192803: 68192803
11RDH12NM_152443.2(RDH12): c.451C> A (p.His151Asn)single nucleotide variantPathogenicrs104894475GRCh37Chr 14, 68193700: 68193700
12NM_152443.2(RDH12): c.688C> G (p.Pro230Ala)single nucleotide variantPathogenicrs104894476GRCh37Chr 14, 68195937: 68195937
13RDH12NM_152443.2(RDH12): c.451C> G (p.His151Asp)single nucleotide variantPathogenicrs104894475GRCh37Chr 14, 68193700: 68193700
14RDH12NM_152443.2(RDH12): c.295C> A (p.Leu99Ile)single nucleotide variantPathogenicrs28940315GRCh37Chr 14, 68191923: 68191923
15RDH12NM_152443.2(RDH12): c.523T> C (p.Ser175Pro)single nucleotide variantPathogenicrs104894472GRCh37Chr 14, 68193772: 68193772
16RDH12NM_152443.2(RDH12): c.152T> A (p.Ile51Asn)single nucleotide variantPathogenicrs104894473GRCh37Chr 14, 68191273: 68191273
17RDH12NM_152443.2(RDH12): c.658+1G> Asingle nucleotide variantPathogenicrs387906272GRCh37Chr 14, 68193908: 68193908
18RDH12NM_152443.2(RDH12): c.464C> T (p.Thr155Ile)single nucleotide variantPathogenicrs121434337GRCh37Chr 14, 68193713: 68193713
19RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
20USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
21USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
22USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
23USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
24TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
25PEX1NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)single nucleotide variantPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876
26PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
27RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520

Expression for genes affiliated with Leber Congenital Amaurosis

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2BioGPS, 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:
50PathCards, 30KEGG, 60Thomson Reuters, 51PharmGKB, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN
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Pathways related to Leber Congenital Amaurosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.4RDH12, RPE65, LRAT
2
Show member pathways
10.4LRAT, RPE65, RDH12
3
Show member pathways
Retinol metabolism60
10.4RDH12, RHO, RPE65
4
Show member pathways
10.3ABCA4, LRAT, RPE65, RHO, RDH12
5
Show member pathways
10.3LRAT, GUCA1B, RPE65, PDE6B, RHO, RDH12
610.3LRAT, GUCA1B, RPE65, PDE6B, RHO, RDH12
7
Show member pathways
10.3RDH12, ABCA4, LRAT, GUCA1B, RPE65, PDE6B
810.3ABCA4, LRAT, GUCA1B, RPE65, PDE6B, RHO
9
Show member pathways
10.3ABCA4, LRAT, GUCA1B, RPE65, PDE6B, RHO

Compounds for genes affiliated with Leber Congenital Amaurosis

About this section
Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
See all sources

Compounds related to Leber Congenital Amaurosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
111-cis-retinol45 2411.5RHO, RPE65, LRAT, ABCA4
2vitamin a45 24 1112.5ABCA4, LRAT, RPE65, RHO, RDH12
3retinoid4510.4RHO, CRX, RPE65, LRAT, ABCA4
4retinyl ester45 2411.4RPE65, LRAT
5isotretinoin45 1111.4RHO, LRAT
6cgmp45 2911.4GUCA1B, RPGR, PDE6B, RHO
7guanylate4510.3GUCA1B, CRB1, RHO
8leucine4510.0RHO, NRL, CRX, PDE6B

GO Terms for genes affiliated with Leber Congenital Amaurosis

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segment membraneGO:06034210.4RDH12, RHO
2photoreceptor disc membraneGO:09738110.3RHO, PDE6B, GUCA1B, ABCA4
3photoreceptor outer segmentGO:00175010.2TULP1, MERTK, RPGR, RHO
4photoreceptor inner segmentGO:00191710.1RHO, GUCA1B, TULP1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1eye photoreceptor cell developmentGO:04246210.6RPGR, CRB1, TULP1
2retina development in camera-type eyeGO:06004110.6TULP1, MERTK, PDE6B, CRX, RHO
3response to stimulusGO:05089610.6SPATA7, USH2A, NRL, RPGR, CRX
4retinoid metabolic processGO:00152310.6RDH12, RHO, ABCA4, LRAT, RPE65
5photoreceptor cell maintenanceGO:04549410.6ABCA4, TULP1, USH2A, RDH12
6regulation of rhodopsin gene expressionGO:00746810.6NRL, RPE65
7phototransduction, visible lightGO:00760310.5RDH12, RPE65, RHO, PDE6B, ABCA4, LRAT
8regulation of rhodopsin mediated signaling pathwayGO:02240010.5GUCA1B, RHO, PDE6B
9vitamin A metabolic processGO:00677610.5RPE65, LRAT
10rhodopsin mediated signaling pathwayGO:01605610.5GUCA1B, RHO, PDE6B
11retinol metabolic processGO:04257210.4LRAT, RDH12
12cell-cell signalingGO:00726710.4CRB1, MERTK, GUCA1B
13positive regulation of phagocytosisGO:05076610.3TULP1, MERTK
14visual perceptionGO:00760110.3RDH12, IMPG2, ARL6, NRL, CRX, PDE6B
15phagocytosisGO:00690910.1MERTK, TULP1

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551510.1TULP1, USH2A, MERTK, RPGR, CRB1, NRL
2leucine zipper domain bindingGO:04352210.1CRX, NRL

Products for genes affiliated with Leber Congenital Amaurosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leber Congenital Amaurosis

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet