CRB
MCID: LBR001
MIFTS: 68

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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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 based summary: Leber Congenital Amaurosis, also known as leber congenital amaurosis 13, is related to keratoconus and blindness, and has symptoms including 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 Retinol metabolism and Chemical carcinogenesis. The compounds retinyl ester 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 pigmentation and vision/eye.

Disease Ontology:8 A retinal 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.

Descriptions from OMIM:46 610142, 204000, 204100, 610612, 604393 604537, 612712, 613341, 611755, 604232 more

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Aliases & Classifications for Leber Congenital Amaurosis

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Leber Congenital Amaurosis, Aliases & Descriptions:

Name: Leber Congenital Amaurosis 30 8 19 42 21 10 62
Leber Congenital Amaurosis 13 9 42 22 46 62
Leber Congenital Amaurosis 14 9 42 22 46 62
Lca 8 19 42 21
Leber's Amaurosis 8 42 21
Leber Congenital Tapetoretinal Degeneration 21 62
Hereditary Epithelial Dysplasia of Retina 21 62
Congenital Amaurosis of Retinal Origin 21 62
Dysgenesis Neuroepithelialis Retinae 21 62
Heredoretinopathia Congenitalis 21 62
Amaurosis Congenita of Leber I 8 62
Congenital Retinal Blindness 42 21
Leber's Congenital Amaurosis 8 20
Hereditary Retinal Aplasia 21 62
 
Leber Abiotrophy 21 62
Crb 21 62
Leber's Congenital Tapetoretinal Degeneration 42
Leber's Congenital Tapetoretinal Dysplasia 42
Congenital Absence of the Rods and Cones 42
Amaurosis Congenita of Leber, Type 1 62
Leber Congenital Amaurosis Type 14 8
Leber Congenital Amaurosis Type 13 8
Amaurosis, Leber Congenital 21
Lebers Congenital Amaurosis 44
Leber's Disease 8
Lca13 42
Lca14 42


Classifications:

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


External Ids:

Disease Ontology8 DOID:14791
SNOMED-CT57 193413001
MeSH34 D057130

Related Diseases for Leber Congenital Amaurosis

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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 72)
idRelated DiseaseScoreTop Affiliating Genes
1keratoconus31.2GUCY2D, AIPL1
2blindness30.3AIPL1, GUCY2D, RPE65, RPGRIP1, LCA5, CRX
3retinal degeneration29.5AIPL1, TULP1, LRAT, GUCY2D, RPE65, RPGRIP1
4retinitis11.1
5retinitis pigmentosa10.9
6leber congenital amaurosis 310.7
7leber congenital amaurosis 110.7
8leber congenital amaurosis 1010.7
9leber congenital amaurosis 410.7
10leber congenital amaurosis 610.7
11leber congenital amaurosis 1110.7
12leber congenital amaurosis 1210.7
13leber congenital amaurosis 1510.7
14leber congenital amaurosis 210.7
15leber congenital amaurosis 910.7
16leber congenital amaurosis 510.6
17leber congenital amaurosis 710.6
18leber congenital amaurosis 810.6
19leber congenital amaurosis 1610.6
20cone-rod dystrophy10.5
21gucy2d-related leber congenital amaurosis10.5
22rpe65-related leber congenital amaurosis10.5
23aipl1-related leber congenital amaurosis10.5
24optic atrophy10.4
25retinal dystrophy, early-onset, severe10.4
26rdh12-related leber congenital amaurosis10.4
27lca5-related leber congenital amaurosis10.4
28rpgrip1-related leber congenital amaurosis10.4
29crb1-related leber congenital amaurosis10.4
30crx-related leber congenital amaurosis10.4
31nmnat1-related leber congenital amaurosis10.4
32cep290-related leber congenital amaurosis10.4
33impdh1-related leber congenital amaurosis10.4
34rd3-related leber congenital amaurosis10.4
35spata7-related leber congenital amaurosis10.4
36tulp1-related leber congenital amaurosis10.4
37lrat-related leber congenital amaurosis10.4
38kcnj13-related leber congenital amaurosis10.4
39iqcb1-related leber congenital amaurosis10.4
40leber congenital amaurosis 1710.4
41stargardt disease10.3
42cataract10.3
43hepatitis10.3
44down syndrome10.3
45nephronophthisis10.3
46usher syndrome10.3
47senior-loken syndrome10.3
48joubert syndrome10.3
49metabolic acidosis10.3
50retinal disease10.3

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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Symptoms by clinical synopsis from OMIM:

612712

Clinical features from OMIM:

610142,204000,204100,610612,604393,604537,612712,613341,611755,604232

HPO human phenotypes related to Leber Congenital Amaurosis:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 retinal dystrophy HP:0000556

Drugs & Therapeutics for Leber Congenital Amaurosis

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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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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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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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MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8CRB1, CRX, LCA5, RPE65, TULP1
2MP:00053915.6ARL6, AIPL1, TULP1, LRAT, GUCY2D, RPE65
3MP:00036315.4RPE65, GUCY2D, LRAT, TULP1, AIPL1, RPGRIP1

Publications for Leber Congenital Amaurosis

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Articles related to Leber Congenital Amaurosis:

(show top 50)    (show all 247)
idTitleAuthorsYear
1
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. (24830548)
2014
2
Pathophysilogical mechanism and treatment strategies for Leber congenital amaurosis. (24664772)
2014
3
A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro. (25383945)
2014
4
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation. (24752437)
2014
5
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations. (23341016)
2013
6
Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis. (23663011)
2013
7
Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son. (24093488)
2013
8
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. (22842230)
2012
9
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation. (23344081)
2012
10
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. (21602930)
2011
11
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. (21862650)
2011
12
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
13
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects. (19584904)
2010
14
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. (20006823)
2009
15
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. (19117922)
2009
16
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. (19503738)
2009
17
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. (18209734)
2008
18
Molecular characterization of Leber congenital amaurosis in Koreans. (18682808)
2008
19
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex. (18408180)
2008
20
Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. (18484312)
2008
21
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis. (18682814)
2008
22
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. (17964524)
2007
23
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. (18055816)
2007
24
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. (17546029)
2007
25
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. (18055821)
2007
26
Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. (17960108)
2007
27
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. (17345604)
2007
28
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. (16505055)
2006
29
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (16806805)
2006
30
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. (16942444)
2006
31
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. (17032058)
2006
32
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. (16384941)
2006
33
From gene to disease; Leber congenital amaurosis (LCA)]. (16261712)
2005
34
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
35
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. (15365178)
2004
36
Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. (15322982)
2004
37
Leber congenital amaurosis associated with optic disk neovascularization and vitreous hemorrhage. (12719091)
2003
38
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
39
Visual improvement in Leber congenital amaurosis and the CRX genotype. (11910559)
2002
40
Mutations in the CRB1 gene cause Leber congenital amaurosis. (11231775)
2001
41
Recurrent keratoconus in a patient with Leber congenital amaurosis. (10832707)
2000
42
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
43
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. (9537410)
1998
44
Vision in patients with leber congenital amaurosis. (9046276)
1997
45
Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients. (8892367)
1996
46
Leber congenital amaurosis and its association with keratoconus and keratoglobus. (8195961)
1994
47
Leber Congenital Amaurosis (20301475)
1993
48
Central nervous system involvement in Leber congenital amaurosis. (1512663)
1992
49
Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis. (1338765)
1992
50
Myelination of the optic radiation in Leber congenital amaurosis. (1443398)
1992

Variations for Leber Congenital Amaurosis

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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:

6 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1NM_152443.2(RDH12): c.677A> G (p.Tyr226Cys)single nucleotide variantPathogenicrs28940313GRCh37Chr 14, 68195926: 68195926
2NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs)deletionPathogenicrs386834261GRCh37Chr 14, 68196055: 68196059
3RDH12NM_152443.2(RDH12): c.565C> T (p.Gln189Ter)single nucleotide variantPathogenicrs104894470GRCh37Chr 14, 68193814: 68193814
4RDH12NM_152443.2(RDH12): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicrs28940314GRCh37Chr 14, 68191267: 68191267
5RDH12NM_152443.2(RDH12): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs104894471GRCh37Chr 14, 68191305: 68191305
6RDH12NM_152443.2(RDH12): c.379G> T (p.Gly127Ter)single nucleotide variantPathogenicrs104894474GRCh37Chr 14, 68192803: 68192803
7RDH12NM_152443.2(RDH12): c.451C> A (p.His151Asn)single nucleotide variantPathogenicrs104894475GRCh37Chr 14, 68193700: 68193700
8NM_152443.2(RDH12): c.688C> G (p.Pro230Ala)single nucleotide variantPathogenicrs104894476GRCh37Chr 14, 68195937: 68195937
9RDH12NM_152443.2(RDH12): c.451C> G (p.His151Asp)single nucleotide variantPathogenicrs104894475GRCh37Chr 14, 68193700: 68193700
10RDH12NM_152443.2(RDH12): c.295C> A (p.Leu99Ile)single nucleotide variantPathogenicrs28940315GRCh37Chr 14, 68191923: 68191923
11RDH12NM_152443.2(RDH12): c.523T> C (p.Ser175Pro)single nucleotide variantPathogenicrs104894472GRCh37Chr 14, 68193772: 68193772
12RDH12NM_152443.2(RDH12): c.152T> A (p.Ile51Asn)single nucleotide variantPathogenicrs104894473GRCh37Chr 14, 68191273: 68191273
13RDH12NM_152443.2(RDH12): c.658+1G> Asingle nucleotide variantPathogenicrs387906272GRCh37Chr 14, 68193908: 68193908
14RDH12NM_152443.2(RDH12): c.464C> T (p.Thr155Ile)single nucleotide variantPathogenicrs121434337GRCh37Chr 14, 68193713: 68193713

Expression for genes affiliated with Leber Congenital Amaurosis

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Retinol metabolism60
9.9RPE65, RDH12
2
Show member pathways
9.7RDH12, RPE65, LRAT
3
Show member pathways
9.7RPE65, RDH12, LRAT
4
Show member pathways
9.7LRAT, RDH12, RPE65
59.4RDH12, RPE65, GUCY2D, LRAT
6
Show member pathways
9.4RPE65, RDH12, LRAT, GUCY2D
7
Show member pathways
9.4RDH12, LRAT, GUCY2D, RPE65
88.9NMNAT1, RDH12, GUCY2D, LRAT, RPE65

Compounds for genes affiliated with Leber Congenital Amaurosis

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1retinyl ester44 2410.8LRAT, RPE65
211-cis-retinol44 2410.6RPE65, LRAT
3retinoid449.5CRX, RPE65, LRAT
4vitamin a44 24 1111.1RDH12, RPE65, GUCY2D, LRAT, AIPL1

GO Terms for genes affiliated with Leber Congenital Amaurosis

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:0019179.6TULP1, AIPL1
2axonemeGO:0059309.4ARL6, RPGRIP1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1retinol metabolic processGO:04257210.0LRAT, RDH12
2photoreceptor cell maintenanceGO:0454949.7TULP1, LCA5, RDH12
3vitamin A metabolic processGO:0067769.6LRAT, RPE65
4retinoid metabolic processGO:0015239.6LRAT, RPE65, RDH12
5phototransduction, visible lightGO:0076039.2RDH12, RPE65, GUCY2D, AIPL1, LRAT
6eye photoreceptor cell developmentGO:0424629.0CRB1, RPGRIP1, TULP1
7retina development in camera-type eyeGO:0600418.8RD3, CRX, RPGRIP1, TULP1
8response to stimulusGO:0508968.7SPATA7, RPGRIP1, CRX, RD3
9visual perceptionGO:0076016.9RPGRIP1, GUCY2D, RPE65, TULP1, CRX, RDH12

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.7ARL6, RDH12, NMNAT1, CRB1, LCA5, RPGRIP1

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet