MCID: LBR001
MIFTS: 58

Leber Congenital Amaurosis malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Aliases & Classifications for Leber Congenital Amaurosis

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Sources:
30LifeMap Discovery®, 9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Leber Congenital Amaurosis, Aliases & Descriptions:

Name: Leber Congenital Amaurosis 30 9 19 41 21 11 47 60
Lca 9 19 41 21
Leber's Amaurosis 9 41 21
Congenital Amaurosis of Retinal Origin 21 60
Congenital Retinal Blindness 41 21
Leber's Congenital Amaurosis 9 20
Amaurosis Congenita of Leber 41 47
Leber's Congenital Tapetoretinal Degeneration 41
Leber Congenital Tapetoretinal Degeneration 21
Leber's Congenital Tapetoretinal Dysplasia 41
Hereditary Epithelial Dysplasia of Retina 21
Congenital Absence of the Rods and Cones 41
 
Amaurosis Congenita of Leber, Type 1 60
Dysgenesis Neuroepithelialis Retinae 21
Leber Congenital Amaurosis Type 13 9
Leber Congenital Amaurosis Type 14 9
Optic Atrophy, Hereditary, Leber 60
Heredoretinopathia Congenitalis 21
Amaurosis, Leber Congenital 21
Lebers Congenital Amaurosis 43
Hereditary Retinal Aplasia 21
Leber Abiotrophy 21
Leber's Disease 9
Crb 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
leber congenital amaurosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:14791
MeSH33 D057130
ICD9CM27 362.76
Orphanet47 65
SNOMED-CT55 193413001
MESH via Orphanet34 D057130
ICD10 via Orphanet26 H35.5
UMLS via Orphanet61 C0339527

Summaries for Leber Congenital Amaurosis

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NIH Rare Diseases:41 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 lca, is related to leber congenital amaurosis 14 and leber congenital amaurosis 17, and has symptoms including visual impairment, optic atrophy and abnormal retinal pigmentation. An important gene associated with Leber Congenital Amaurosis is LCA5 (Leber congenital amaurosis 5), and among its related pathways are Retinol metabolism and the visual cycle I (vertebrates). The compounds nicotinamide and retinyl ester have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and cerebellum, and related mouse phenotypes are pigmentation and vision/eye.

Disease Ontology:9 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.

GeneReviews summary for lca

Related Diseases for Leber Congenital Amaurosis

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Diseases in the Leber Congenital Amaurosis family:

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

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

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis 1431.6AIPL1, LRAT
2leber congenital amaurosis 1731.5GDF6
3keratoconus31.4GUCY2D, AIPL1
4blindness31.0CRB1, CRX, LCA5, RPGRIP1, RPE65, CEP290
5cone-rod dystrophy31.0AIPL1, TULP1, GUCY2D, RPE65, CRX, RPGRIP1
6nephronophthisis30.7CEP290, RPGRIP1, IQCB1
7retinal degeneration30.6AIPL1, TULP1, LRAT, GUCY2D, CEP290, RPE65
8retinitis pigmentosa autosomal recessive30.0IMPDH1, AIPL1, TULP1, RDH12, CRB1, CRX
9retinitis11.1
10retinitis pigmentosa10.9
11leber congenital amaurosis 310.8
12leber congenital amaurosis 610.8
13leber congenital amaurosis 110.8
14leber congenital amaurosis 910.7
15leber congenital amaurosis 210.7
16leber congenital amaurosis 1210.7
17leber congenital amaurosis 1510.7
18leber congenital amaurosis 1110.7
19leber congenital amaurosis 410.7
20leber congenital amaurosis 810.7
21leber congenital amaurosis 510.7
22leber congenital amaurosis 1010.7
23leber congenital amaurosis 710.7
24leber congenital amaurosis 1610.7
25leber congenital amaurosis 1310.7
26gucy2d-related leber congenital amaurosis10.6
27rpe65-related leber congenital amaurosis10.6
28aipl1-related leber congenital amaurosis10.6
29rdh12-related leber congenital amaurosis10.5
30lca5-related leber congenital amaurosis10.5
31rpgrip1-related leber congenital amaurosis10.5
32crb1-related leber congenital amaurosis10.5
33crx-related leber congenital amaurosis10.5
34nmnat1-related leber congenital amaurosis10.5
35cep290-related leber congenital amaurosis10.5
36impdh1-related leber congenital amaurosis10.5
37rd3-related leber congenital amaurosis10.5
38spata7-related leber congenital amaurosis10.5
39tulp1-related leber congenital amaurosis10.5
40lrat-related leber congenital amaurosis10.5
41kcnj13-related leber congenital amaurosis10.5
42iqcb1-related leber congenital amaurosis10.5
43keratoconus 110.4
44seckel syndrome10.3CEP290, IQCB1
45senior-loken syndrome 510.3
46enhanced s-cone syndrome10.3
47nystagmus 1, congenital, x-linked10.3
48senior-loken syndrome-110.3
49retinitis pigmentosa 7 and digenic10.3
50stargardt 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:

 47 (show all 16)
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • autosomal recessive inheritance
  • keratoconus/keratoglobus
  • cataract/lens opacification
  • abnormal erg/electroretinogram/electroretinography
  • nystagmus
  • encephalocele/exencephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hypotonia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hearing loss/hypoacusia/deafness
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Leber Congenital Amaurosis:

(show all 15)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 optic atrophy hallmark (90%) HP:0000648
3 abnormal retinal pigmentation hallmark (90%) HP:0007703
4 abnormal electroretinogram typical (50%) HP:0000512
5 cataract typical (50%) HP:0000518
6 nystagmus typical (50%) HP:0000639
7 seizures typical (50%) HP:0001250
8 muscular hypotonia typical (50%) HP:0001252
9 encephalocele typical (50%) HP:0002084
10 abnormality of neuronal migration typical (50%) HP:0002269
11 hemiplegia/hemiparesis typical (50%) HP:0004374
12 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
13 decreased corneal thickness typical (50%) HP:0100689
14 hearing impairment occasional (7.5%) HP:0000365
15 cognitive impairment occasional (7.5%) HP:0100543

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

Anatomical Context for Leber Congenital Amaurosis

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MalaCards organs/tissues related to Leber Congenital Amaurosis:

31
Retina, Eye, Cerebellum, Testes, Pineal, Brain

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Leber Congenital Amaurosis:
id 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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.7CRB1, CRX, LCA5, RPE65, CEP290, TULP1
2MP:00053918.3RD3, GDF6, AIPL1, TULP1, LRAT, GUCY2D
3MP:00036318.1CEP290, GUCY2D, LRAT, TULP1, AIPL1, GDF6

Publications for Leber Congenital Amaurosis

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Articles related to Leber Congenital Amaurosis:

(show top 50)    (show all 255)
idTitleAuthorsYear
1
Review and update on the molecular basis of Leber congenital amaurosis. (25685757)
2015
2
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. (24830548)
2014
3
Pathophysilogical mechanism and treatment strategies for Leber congenital amaurosis. (24664772)
2014
4
A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro. (25383945)
2014
5
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation. (24752437)
2014
6
Leber Congenital Amaurosis Caused by Mutations in RPGRIP1. (25414380)
2014
7
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations. (23341016)
2013
8
Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis. (23663011)
2013
9
Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son. (24093488)
2013
10
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. (22842230)
2012
11
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. (21602930)
2011
12
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. (21862650)
2011
13
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
14
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects. (19584904)
2010
15
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. (20006823)
2009
16
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. (19117922)
2009
17
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. (19503738)
2009
18
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. (18209734)
2008
19
Molecular characterization of Leber congenital amaurosis in Koreans. (18682808)
2008
20
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex. (18408180)
2008
21
Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. (18484312)
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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Clinvar genetic disease variations for Leber Congenital Amaurosis:

6 (show all 67)
id Gene Variation Type Significance SNP ID Assembly Location
1RPE65RPE65, 1-BP DEL, 1067AdeletionPathogenic
2RPE65NM_000329.2(RPE65): c.700C> T (p.Arg234Ter)single nucleotide variantPathogenicrs61752895GRCh37Chr 1, 68905269: 68905269
3RD3NM_183059.2(RD3): c.296+1G> Asingle nucleotide variantPathogenicrs386834260GRCh37Chr 1, 211654461: 211654461
4CEP290NM_025114.3(CEP290): c.2991+1655A> Gsingle nucleotide variantPathogenicrs281865192GRCh37Chr 12, 88494960: 88494960
5CEP290NM_025114.3(CEP290): c.2249T> G (p.Leu750Ter)single nucleotide variantPathogenicrs137852833GRCh37Chr 12, 88505097: 88505097
6CEP290CEP290, 5-BP DEL, 1260TAAAGdeletionPathogenic
7CRB1NM_201253.2(CRB1): c.1576C> T (p.Arg526Ter)single nucleotide variantPathogenicGRCh37Chr 1, 197390534: 197390534
8IMPDH1NM_000883.3(IMPDH1): c.568C> T (p.Arg190Trp)single nucleotide variantPathogenicrs121912553GRCh37Chr 7, 128040882: 128040882
9IMPDH1NM_000883.3(IMPDH1): c.849T> G (p.Asn283Lys)single nucleotide variantPathogenicrs121912554GRCh37Chr 7, 128040174: 128040174
10NM_152443.2(RDH12): c.677A> G (p.Tyr226Cys)single nucleotide variantPathogenicrs28940313GRCh37Chr 14, 68195926: 68195926
11NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs)deletionPathogenicrs386834261GRCh37Chr 14, 68196055: 68196059
12RDH12NM_152443.2(RDH12): c.565C> T (p.Gln189Ter)single nucleotide variantPathogenicrs104894470GRCh37Chr 14, 68193814: 68193814
13RDH12NM_152443.2(RDH12): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicrs28940314GRCh37Chr 14, 68191267: 68191267
14RDH12NM_152443.2(RDH12): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs104894471GRCh37Chr 14, 68191305: 68191305
15RDH12NM_152443.2(RDH12): c.379G> T (p.Gly127Ter)single nucleotide variantPathogenicrs104894474GRCh37Chr 14, 68192803: 68192803
16RDH12NM_152443.2(RDH12): c.451C> A (p.His151Asn)single nucleotide variantPathogenicrs104894475GRCh37Chr 14, 68193700: 68193700
17NM_152443.2(RDH12): c.688C> G (p.Pro230Ala)single nucleotide variantPathogenicrs104894476GRCh37Chr 14, 68195937: 68195937
18RDH12NM_152443.2(RDH12): c.451C> G (p.His151Asp)single nucleotide variantPathogenicrs104894475GRCh37Chr 14, 68193700: 68193700
19RDH12NM_152443.2(RDH12): c.295C> A (p.Leu99Ile)single nucleotide variantPathogenicrs28940315GRCh37Chr 14, 68191923: 68191923
20RDH12NM_152443.2(RDH12): c.523T> C (p.Ser175Pro)single nucleotide variantPathogenicrs104894472GRCh37Chr 14, 68193772: 68193772
21RDH12NM_152443.2(RDH12): c.152T> A (p.Ile51Asn)single nucleotide variantPathogenicrs104894473GRCh37Chr 14, 68191273: 68191273
22RDH12NM_152443.2(RDH12): c.658+1G> Asingle nucleotide variantPathogenicrs387906272GRCh37Chr 14, 68193908: 68193908
23RDH12NM_152443.2(RDH12): c.464C> T (p.Thr155Ile)single nucleotide variantPathogenicrs121434337GRCh37Chr 14, 68193713: 68193713
24RPE65NM_000329.2(RPE65): c.907A> T (p.Lys303Ter)single nucleotide variantPathogenicrs61752904GRCh37Chr 1, 68904716: 68904716
25RPE65NM_000329.2(RPE65): c.1292A> G (p.Tyr431Cys)single nucleotide variantPathogenicrs62636300GRCh37Chr 1, 68897011: 68897011
26GDF6NM_001001557.2(GDF6): c.595G> A (p.Ala199Thr)single nucleotide variantPathogenicrs387906794GRCh37Chr 8, 97157564: 97157564
27TULP1NM_003322.4(TULP1): c.1204G> T (p.Glu402Ter)single nucleotide variantPathogenicrs387906835GRCh37Chr 6, 35471534: 35471534
28TULP1NM_003322.4(TULP1): c.1198C> T (p.Arg400Trp)single nucleotide variantPathogenicrs387906836GRCh37Chr 6, 35471540: 35471540
29TULP1NM_003322.4(TULP1): c.1102G> T (p.Gly368Trp)single nucleotide variantPathogenicrs387906837GRCh37Chr 6, 35473528: 35473528
30TULP1TULP1, 6-BP DUP, NT1593duplicationPathogenic
31NM_002242.4(KCNJ13): c.496C> T (p.Arg166Ter)single nucleotide variantPathogenicrs387906858GRCh37Chr 2, 233633488: 233633488
32NM_002242.4(KCNJ13): c.722T> C (p.Leu241Pro)single nucleotide variantPathogenicrs143607153GRCh37Chr 2, 233633262: 233633262
33NMNAT1NM_022787.3(NMNAT1): c.838T> C (p.Ter280Gln)single nucleotide variantPathogenicrs387907290GRCh37Chr 1, 10042757: 10042757
34NMNAT1NM_022787.3(NMNAT1): c.619C> T (p.Arg207Trp)single nucleotide variantPathogenicrs142968179GRCh37Chr 1, 10042538: 10042538
35NMNAT1NM_022787.3(NMNAT1): c.769G> A (p.Glu257Lys)single nucleotide variantPathogenicrs150726175GRCh37Chr 1, 10042688: 10042688
36NMNAT1NM_022787.3(NMNAT1): c.817A> G (p.Asn273Asp)single nucleotide variantPathogenicrs387907291GRCh37Chr 1, 10042736: 10042736
37NMNAT1NM_022787.3(NMNAT1): c.451G> T (p.Val151Phe)single nucleotide variantPathogenicrs387907292GRCh37Chr 1, 10042370: 10042370
38NMNAT1NMNAT1, TRP169TERundetermined variantPathogenic
39NMNAT1NM_022787.3(NMNAT1): c.710G> T (p.Arg237Leu)single nucleotide variantPathogenicrs368062092GRCh37Chr 1, 10042629: 10042629
40NMNAT1NM_022787.3(NMNAT1): c.457C> G (p.Leu153Val)single nucleotide variantPathogenicrs387907293GRCh37Chr 1, 10042376: 10042376
41NMNAT1NM_022787.3(NMNAT1): c.25G> A (p.Val9Met)single nucleotide variantPathogenicrs387907294GRCh37Chr 1, 10032156: 10032156
42RPGRIP1RPGRIP1, 1-BP DEL, ASP1176deletionPathogenic
43RPGRIP1NM_020366.3(RPGRIP1): c.194G> A (p.Trp65Ter)single nucleotide variantPathogenicrs137853124GRCh37Chr 14, 21762944: 21762944
44RPGRIP1RPGRIP1, 1-BP INS, GLN893insertionPathogenic
45RPGRIP1RPGRIP1, 1-BP DEL, LYS342deletionPathogenic
46RPGRIP1NM_020366.3(RPGRIP1): c.3341A> G (p.Asp1114Gly)single nucleotide variantPathogenicrs17103671GRCh37Chr 14, 21811196: 21811196
47RPGRIP1RPGRIP1, 3-BP DEL, 3835GAGdeletionPathogenic
48CRB1NM_201253.2(CRB1): c.3299T> G (p.Ile1100Arg)single nucleotide variantPathogenicrs62635659GRCh37Chr 1, 197404292: 197404292
49CRB1NM_201253.2(CRB1): c.3997G> T (p.Glu1333Ter)single nucleotide variantPathogenicrs137853136GRCh37Chr 1, 197411414: 197411414
50GDF6GDF6, GLU292ASPsingle nucleotide variantPathogenic
51GDF6NM_001001557.2(GDF6): c.169G> C (p.Asp57His)single nucleotide variantPathogenicrs397514725GRCh37Chr 8, 97172752: 97172752
52GUCY2DNM_000180.3(GUCY2D): c.3233_3236dupACCA (p.His1079Glnfs)duplicationPathogenicrs386834239GRCh37Chr 17, 7919769: 7919772
53CRXNM_000554.4(CRX): c.529delG (p.Ala177Leufs)deletionPathogenicrs61748449GRCh37Chr 19, 48342853: 48342853
54CRXCRX, 2-BP DEL, GLU168deletionPathogenic
55CRXCRX, 1-BP DEL, GLY217deletionPathogenic
56CRXNM_000554.4(CRX): c.268C> T (p.Arg90Trp)single nucleotide variantPathogenicrs104894673GRCh37Chr 19, 48342592: 48342592
57CRXCRX, 1-BP DEL, 520GdeletionPathogenic
58PEX1NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)single nucleotide variantPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876
59GDF6NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)single nucleotide variantPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413
60GUCY2DNM_000180.3(GUCY2D): c.1694T> C (p.Phe565Ser)single nucleotide variantPathogenicrs61749755GRCh37Chr 17, 7912849: 7912849
61GUCY2DGUCY2D, 1-BP DEL, 460CdeletionPathogenic
62GUCY2DGUCY2D, 1-BP DEL, 693CdeletionPathogenic
63GUCY2DGUCY2D, 1-BP DEL, 2943GdeletionPathogenic
64LCA5NM_181714.3(LCA5): c.1151delC (p.Pro384Glnfs)deletionPathogenicrs386834252GRCh37Chr 6, 80198881: 80198881
65LCA5NM_181714.3(LCA5): c.1476dupA (p.Pro493Thrfs)duplicationPathogenicrs386834253GRCh37Chr 6, 80197339: 80197339
66LCA5NM_181714.3(LCA5): c.835C> T (p.Gln279Ter)single nucleotide variantPathogenicrs121918165GRCh37Chr 6, 80203353: 80203353
67LCA5NM_181714.3: c.-1688_-298+207del1598deletionPathogenicGRCh37Chr 6, 80246626: 80248223

Expression for genes affiliated with Leber Congenital Amaurosis

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Retinol metabolism58
10.2RPE65, RDH12
2
Show member pathways
10.0LRAT, RDH12, RPE65
3
Show member pathways
10.0RDH12, RPE65, LRAT
4
Show member pathways
10.0RPE65, RDH12, LRAT
5
Show member pathways
9.9RDH12, LRAT, GUCY2D, RPE65
6
Show member pathways
9.9RPE65, RDH12, LRAT, GUCY2D
79.9RDH12, RPE65, GUCY2D, LRAT
89.7NMNAT1, RDH12, GUCY2D, LRAT, RPE65

Compounds for genes affiliated with Leber Congenital Amaurosis

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Sources:
43Novoseek, 12DrugBank, 24HMDB
See all sources

Compounds related to Leber Congenital Amaurosis according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1nicotinamide43 1211.2IMPDH1, NMNAT1
2retinyl ester43 2411.1RPE65, LRAT
311-cis-retinol43 2411.0LRAT, RPE65
4vitamin a43 24 1211.8RDH12, RPE65, GUCY2D, LRAT, AIPL1
5retinoid439.7CRX, RPE65, LRAT

GO Terms for genes affiliated with Leber Congenital Amaurosis

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:003239110.1IQCB1, CEP290
2photoreceptor inner segmentGO:000191710.0TULP1, AIPL1
3photoreceptor outer segmentGO:00017509.8IQCB1, TULP1
4cytoplasmGO:00057379.1PEX1, TULP1, NUB1, CEP290, IQCB1, LCA5

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1establishment or maintenance of cell polarityGO:000716310.2CRB1, CEP290
2eye photoreceptor cell developmentGO:004246210.1CRB1, RPGRIP1, CEP290, TULP1
3vitamin A metabolic processGO:000677610.0LRAT, RPE65
4retinoid metabolic processGO:000152310.0RDH12, RPE65, LRAT
5photoreceptor cell maintenanceGO:004549410.0RDH12, LCA5, IQCB1, TULP1
6retina development in camera-type eyeGO:006004110.0TULP1, CEP290, RPGRIP1, CRX, RD3
7response to stimulusGO:00508969.9SPATA7, RPGRIP1, CRX, RD3
8phototransduction, visible lightGO:00076039.8AIPL1, LRAT, GUCY2D, RPE65, RDH12
9retinol metabolic processGO:00425729.8RDH12, LRAT
10visual perceptionGO:00076019.2RD3, AIPL1, SPATA7, TULP1, LRAT, GUCY2D

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055158.7RDH12, PEX1, TULP1, NUB1, CEP290, IQCB1

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet