MCID: LBR001
MIFTS: 56

Leber Congenital Amaurosis malady

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

Aliases & Classifications for Leber Congenital Amaurosis

About this section
Sources:
32LifeMap Discovery®, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 29ICD9CM, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Leber Congenital Amaurosis:

Name: Leber Congenital Amaurosis 32 10 21 45 23 12 51 65 36
Lca 10 21 45 22 23
Leber's Amaurosis 10 45 22 23
Congenital Amaurosis of Retinal Origin 23 65
Leber's Congenital Amaurosis 10 22
Amaurosis Congenita of Leber 22 51
Congenital Retinal Blindness 45 23
Leber's Congenital Tapetoretinal Degeneration 45
Leber Congenital Tapetoretinal Degeneration 23
Leber's Congenital Tapetoretinal Dysplasia 45
Hereditary Epithelial Dysplasia of Retina 23
Congenital Absence of the Rods and Cones 45
 
Dysgenesis Neuroepithelialis Retinae 23
Amaurosis Congenita of Leber, Type 1 65
Leber Congenital Amaurosis Type 13 10
Leber Congenital Amaurosis Type 14 10
Optic Atrophy, Hereditary, Leber 65
Heredoretinopathia Congenitalis 23
Lebers Congenital Amaurosis 47
Amaurosis, Leber Congenital 23
Hereditary Retinal Aplasia 23
Leber Abiotrophy 23
Leber's Disease 10
Crb 23


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
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 Ontology10 DOID:14791
MeSH36 D057130
ICD9CM29 362.76
Orphanet51 65
SNOMED-CT59 193413001
ICD10 via Orphanet28 H35.5
MESH via Orphanet37 D057130
UMLS via Orphanet66 C0339527

Summaries for Leber Congenital Amaurosis

About this section
NIH Rare Diseases:45 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 eye disease and retinitis, and has symptoms including visual impairment, optic atrophy and abnormality of retinal pigmentation. An important gene associated with Leber Congenital Amaurosis is TULP1 (Tubby Like Protein 1), and among its related pathways are the visual cycle I (vertebrates) and Vitamin A and carotenoid metabolism. Affiliated tissues include retina, eye and cerebellum, and related mouse phenotypes are pigmentation and nervous system.

Disease Ontology:10 A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Genetics Home Reference:23 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

About this section

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 Aipl1-Related Leber Congenital Amaurosis
Cep290-Related Leber Congenital Amaurosis Crb1-Related Leber Congenital Amaurosis
Crx-Related Leber Congenital Amaurosis Gucy2d-Related Leber Congenital Amaurosis
Impdh1-Related Leber Congenital Amaurosis Iqcb1-Related Leber Congenital Amaurosis
Kcnj13-Related Leber Congenital Amaurosis Lca5-Related Leber Congenital Amaurosis
Lrat-Related Leber Congenital Amaurosis Nmnat1-Related Leber Congenital Amaurosis
Rd3-Related Leber Congenital Amaurosis Rdh12-Related Leber Congenital Amaurosis
Rpe65-Related Leber Congenital Amaurosis Rpgrip1-Related Leber Congenital Amaurosis
Spata7-Related Leber Congenital Amaurosis Tulp1-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 114)
idRelated DiseaseScoreTop Affiliating Genes
1eye disease31.6GUCY2D, KCNJ13
2retinitis11.1
3retinitis pigmentosa10.9
4leber congenital amaurosis 110.9
5leber congenital amaurosis 210.9
6leber congenital amaurosis 310.9
7leber congenital amaurosis 610.8
8leber congenital amaurosis 1110.8
9leber congenital amaurosis 1210.8
10leber congenital amaurosis 1010.8
11leber congenital amaurosis 410.8
12leber congenital amaurosis 710.8
13leber congenital amaurosis 910.8
14leber congenital amaurosis 810.8
15leber congenital amaurosis 1410.8
16leber congenital amaurosis 1510.8
17leber congenital amaurosis 510.8
18leber congenital amaurosis 1610.7
19leber congenital amaurosis 1310.7
20retinal degeneration10.7
21retinal disease10.7
22spiradenoma10.7
23globe disease10.7
24leber congenital amaurosis 1710.7
25cone-rod dystrophy10.7
26viral infectious disease10.6
27nmnat1-related leber congenital amaurosis10.6
28keratoconus10.6
29hereditary retinal dystrophy10.6
30eye degenerative disease10.6
31fundus dystrophy10.6
32aipl1-related leber congenital amaurosis10.6
33gucy2d-related leber congenital amaurosis10.6
34rpe65-related leber congenital amaurosis10.6
35retinitis pigmentosa 7 and digenic10.5
36cep290-related leber congenital amaurosis10.5
37crb1-related leber congenital amaurosis10.5
38crx-related leber congenital amaurosis10.5
39impdh1-related leber congenital amaurosis10.5
40iqcb1-related leber congenital amaurosis10.5
41kcnj13-related leber congenital amaurosis10.5
42lca5-related leber congenital amaurosis10.5
43lrat-related leber congenital amaurosis10.5
44rd3-related leber congenital amaurosis10.5
45rdh12-related leber congenital amaurosis10.5
46rpgrip1-related leber congenital amaurosis10.5
47spata7-related leber congenital amaurosis10.5
48tulp1-related leber congenital amaurosis10.5
49retinitis pigmentosa autosomal recessive10.5
50rpe65-related retinitis pigmentosa10.4AIPL1, CRX, GUCY2D, RPE65, RPGRIP1

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



Diseases related to leber congenital amaurosis

Symptoms for Leber Congenital Amaurosis

About this section

Symptoms:

 51 (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 abnormality of 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

About this section

Drugs for Leber Congenital Amaurosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Aapproved, nutraceuticalPhase 138611103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Chocola a
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
2Retinol palmitatePhase 1386
3retinolNutraceuticalPhase 1386
4LecithinNutraceuticalPhase 157

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Safety and Efficacy Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00999609Phase 3
2Safety Study of RPE65 Gene Therapy to Treat Leber Congenital AmaurosisCompletedNCT00643747Phase 1, Phase 2
3Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65CompletedNCT01496040Phase 1, Phase 2
4Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital AmaurosisActive, not recruitingNCT00749957Phase 1, Phase 2
5Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2Active, not recruitingNCT01208389Phase 1, Phase 2
6Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)CompletedNCT01521793Phase 1
7Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) MutationsCompletedNCT01014052Phase 1
8Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 MutationsRecruitingNCT00821340Phase 1
9Safety Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00516477Phase 1
10Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsActive, not recruitingNCT00481546Phase 1
11Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal DystrophyCompletedNCT00422721
12Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRATRecruitingNCT02575430
13Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940

Search NIH Clinical Center for Leber Congenital Amaurosis


Cochrane evidence based reviews: Leber Congenital Amaurosis

Genetic Tests for Leber Congenital Amaurosis

About this section

Genetic tests related to Leber Congenital Amaurosis:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis22 TULP1

Anatomical Context for Leber Congenital Amaurosis

About this section

MalaCards organs/tissues related to Leber Congenital Amaurosis:

33
Retina, Eye, Cerebellum, Pineal, Testes, 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

About this section

MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.7CEP290, CRB1, CRX, LCA5, RPE65, TULP1
2MP:000363110.1AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D
3MP:000539110.0AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D

Publications for Leber Congenital Amaurosis

About this section

Articles related to Leber Congenital Amaurosis:

(show top 50)    (show all 268)
idTitleAuthorsYear
1
Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes. (26427408)
2016
2
Review and update on the molecular basis of Leber congenital amaurosis. (25685757)
2015
3
AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. (25965394)
2015
4
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. (24830548)
2014
5
Pathophysilogical mechanism and treatment strategies for Leber congenital amaurosis. (24664772)
2014
6
A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro. (25383945)
2014
7
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation. (24752437)
2014
8
Leber Congenital Amaurosis Caused by Mutations in RPGRIP1. (25414380)
2014
9
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations. (23341016)
2013
10
Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis. (23663011)
2013
11
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. (22842230)
2012
12
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. (21602930)
2011
13
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. (21862650)
2011
14
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
15
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects. (19584904)
2010
16
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. (20006823)
2009
17
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. (19117922)
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
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis. (18682814)
2008
23
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. (17964524)
2007
24
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. (18055816)
2007
25
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. (17546029)
2007
26
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. (18055821)
2007
27
Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. (17960108)
2007
28
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. (17345604)
2007
29
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. (16505055)
2006
30
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (16806805)
2006
31
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. (16942444)
2006
32
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. (17032058)
2006
33
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. (16384941)
2006
34
From gene to disease; Leber congenital amaurosis (LCA)]. (16261712)
2005
35
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
36
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. (15365178)
2004
37
Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. (15322982)
2004
38
Leber congenital amaurosis associated with optic disk neovascularization and vitreous hemorrhage. (12719091)
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

About this section

Clinvar genetic disease variations for Leber Congenital Amaurosis:

5 (show all 76)
id Gene Variation Type Significance SNP ID Assembly Location
1RPE65RPE65, 1-BP DEL, 1067AdeletionPathogenic
2RD3NM_183059.2(RD3): c.296+1G> Asingle nucleotide variantPathogenicrs386834260GRCh37Chr 1, 211654461: 211654461
3CEP290NM_025114.3(CEP290): c.2249T> G (p.Leu750Ter)single nucleotide variantPathogenicrs137852833GRCh37Chr 12, 88505097: 88505097
4CEP290CEP290, 5-BP DEL, 1260TAAAGdeletionPathogenic
5USH2ANM_206933.2(USH2A): c.14243C> T (p.Ser4748Phe)single nucleotide variantLikely pathogenicrs527236126GRCh38Chr 1, 215650692: 215650692
6IMPDH1NM_000883.3(IMPDH1): c.568C> T (p.Arg190Trp)single nucleotide variantPathogenicrs121912553GRCh37Chr 7, 128040882: 128040882
7IMPDH1NM_000883.3(IMPDH1): c.849T> G (p.Asn283Lys)single nucleotide variantPathogenicrs121912554GRCh37Chr 7, 128040174: 128040174
8CEP290NM_025114.3(CEP290): c.1711+1G> Asingle nucleotide variantPathogenicrs587783009GRCh37Chr 12, 88512259: 88512259
9CEP290NM_025114.3(CEP290): c.2248_2249delTT (p.Leu750Thrfs)deletionPathogenicrs587783010GRCh38Chr 12, 88111320: 88111321
10RPGRIP1NM_020366.3(RPGRIP1): c.1892A> T (p.His631Leu)single nucleotide variantPathogenicrs535922252GRCh38Chr 14, 21324747: 21324747
11RPGRIP1NM_020366.3(RPGRIP1): c.3565_3571delCGAAGGC (p.Arg1189Glyfs)deletionPathogenicrs587783012GRCh37Chr 14, 21813304: 21813310
12CRB1NM_201253.2(CRB1): c.998G> A (p.Gly333Asp)single nucleotide variantPathogenicrs587783015GRCh38Chr 1, 197356840: 197356840
13CEP290NM_025114.3(CEP290): c.6869dupA (p.Asn2290Lysfs)duplicationPathogenicrs587783017GRCh37Chr 12, 88449444: 88449444
14RPGRIP1NM_020366.3(RPGRIP1): c.832C> T (p.Arg278Ter)single nucleotide variantPathogenicrs587783018GRCh37Chr 14, 21775921: 21775921
15RPGRIP1NM_020366.3(RPGRIP1): c.2356C> T (p.Gln786Ter)single nucleotide variantPathogenicrs587783019GRCh38Chr 14, 21325372: 21325372
16RD3NM_183059.2(RD3): c.180C> A (p.Tyr60Ter)single nucleotide variantPathogenicrs762631020GRCh37Chr 1, 211654578: 211654578
17RD3NM_183059.2(RD3): c.112C> T (p.Arg38Ter)single nucleotide variantPathogenicrs786205148GRCh37Chr 1, 211654646: 211654646
18RD3NM_183059.2(RD3): c.137_138delAG (p.Glu46Alafs)deletionPathogenicrs786205149GRCh37Chr 1, 211654620: 211654621
19RD3NM_183059.2(RD3): c.136G> T (p.Glu46Ter)single nucleotide variantPathogenicrs786205150GRCh37Chr 1, 211654622: 211654622
20RPGRIP1RPGRIP1, 1-BP DEL, 1007A (rs61751266)deletionPathogenic
21CEP290NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs)deletionPathogenicrs766608755GRCh37Chr 12, 88508921: 88508924
22CEP290NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs)deletionPathogenicrs758329611GRCh37Chr 12, 88453716: 88453716
23TULP1NM_003322.4(TULP1): c.725_728delCCAA (p.Pro242Glnfs)deletionPathogenicrs771723580GRCh37Chr 6, 35477080: 35477083
24RDH12NM_152443.2(RDH12): c.677A> G (p.Tyr226Cys)single nucleotide variantPathogenicrs28940313GRCh37Chr 14, 68195926: 68195926
25RDH12NM_152443.2(RDH12): c.806_810delCCCTG (p.Ala269Glyfs)deletionPathogenicrs386834261GRCh37Chr 14, 68196055: 68196059
26RDH12NM_152443.2(RDH12): c.565C> T (p.Gln189Ter)single nucleotide variantPathogenicrs104894470GRCh37Chr 14, 68193814: 68193814
27RDH12NM_152443.2(RDH12): c.146C> T (p.Thr49Met)single nucleotide variantPathogenicrs28940314GRCh37Chr 14, 68191267: 68191267
28RDH12NM_152443.2(RDH12): c.184C> T (p.Arg62Ter)single nucleotide variantPathogenicrs104894471GRCh37Chr 14, 68191305: 68191305
29RDH12NM_152443.2(RDH12): c.379G> T (p.Gly127Ter)single nucleotide variantPathogenicrs104894474GRCh37Chr 14, 68192803: 68192803
30RDH12NM_152443.2(RDH12): c.451C> A (p.His151Asn)single nucleotide variantPathogenicrs104894475GRCh37Chr 14, 68193700: 68193700
31RDH12NM_152443.2(RDH12): c.688C> G (p.Pro230Ala)single nucleotide variantPathogenicrs104894476GRCh37Chr 14, 68195937: 68195937
32RDH12NM_152443.2(RDH12): c.451C> G (p.His151Asp)single nucleotide variantPathogenicrs104894475GRCh37Chr 14, 68193700: 68193700
33RDH12NM_152443.2(RDH12): c.295C> A (p.Leu99Ile)single nucleotide variantPathogenicrs28940315GRCh37Chr 14, 68191923: 68191923
34RDH12NM_152443.2(RDH12): c.523T> C (p.Ser175Pro)single nucleotide variantPathogenicrs104894472GRCh37Chr 14, 68193772: 68193772
35RDH12NM_152443.2(RDH12): c.152T> A (p.Ile51Asn)single nucleotide variantPathogenicrs104894473GRCh37Chr 14, 68191273: 68191273
36RDH12NM_152443.2(RDH12): c.658+1G> Asingle nucleotide variantPathogenicrs387906272GRCh37Chr 14, 68193908: 68193908
37RDH12NM_152443.2(RDH12): c.464C> T (p.Thr155Ile)single nucleotide variantPathogenicrs121434337GRCh37Chr 14, 68193713: 68193713
38CRXNM_000554.4(CRX): c.124G> A (p.Glu42Lys)single nucleotide variantLikely pathogenicGRCh38Chr 19, 47836266: 47836266
39NM_002242.4(KCNJ13): c.458C> T (p.Thr153Ile)single nucleotide variantLikely pathogenicGRCh37Chr 2, 233635615: 233635615
40GDF6NM_001001557.2(GDF6): c.595G> A (p.Ala199Thr)single nucleotide variantPathogenicrs387906794GRCh37Chr 8, 97157564: 97157564
41TULP1NM_003322.4(TULP1): c.1204G> T (p.Glu402Ter)single nucleotide variantPathogenicrs387906835GRCh37Chr 6, 35471534: 35471534
42TULP1NM_003322.4(TULP1): c.1198C> T (p.Arg400Trp)single nucleotide variantPathogenicrs387906836GRCh37Chr 6, 35471540: 35471540
43TULP1NM_003322.4(TULP1): c.1102G> T (p.Gly368Trp)single nucleotide variantPathogenicrs387906837GRCh37Chr 6, 35473528: 35473528
44TULP1TULP1, 6-BP DUP, NT1593duplicationPathogenic
45NM_002242.4(KCNJ13): c.496C> T (p.Arg166Ter)single nucleotide variantPathogenicrs387906858GRCh37Chr 2, 233633488: 233633488
46NM_002242.4(KCNJ13): c.722T> C (p.Leu241Pro)single nucleotide variantPathogenicrs143607153GRCh37Chr 2, 233633262: 233633262
47NMNAT1NM_022787.3(NMNAT1): c.838T> C (p.Ter280Gln)single nucleotide variantPathogenicrs387907290GRCh37Chr 1, 10042757: 10042757
48NMNAT1NM_022787.3(NMNAT1): c.619C> T (p.Arg207Trp)single nucleotide variantPathogenicrs142968179GRCh37Chr 1, 10042538: 10042538
49NMNAT1NM_022787.3(NMNAT1): c.769G> A (p.Glu257Lys)single nucleotide variantPathogenicrs150726175GRCh37Chr 1, 10042688: 10042688
50NMNAT1NM_022787.3(NMNAT1): c.817A> G (p.Asn273Asp)single nucleotide variantPathogenicrs387907291GRCh37Chr 1, 10042736: 10042736
51NMNAT1NM_022787.3(NMNAT1): c.451G> T (p.Val151Phe)single nucleotide variantPathogenicrs387907292GRCh37Chr 1, 10042370: 10042370
52NMNAT1NMNAT1, TRP169TERundetermined variantPathogenic
53NMNAT1NM_022787.3(NMNAT1): c.710G> T (p.Arg237Leu)single nucleotide variantPathogenicrs368062092GRCh37Chr 1, 10042629: 10042629
54NMNAT1NM_022787.3(NMNAT1): c.457C> G (p.Leu153Val)single nucleotide variantPathogenicrs387907293GRCh37Chr 1, 10042376: 10042376
55NMNAT1NM_022787.3(NMNAT1): c.25G> A (p.Val9Met)single nucleotide variantPathogenicrs387907294GRCh37Chr 1, 10032156: 10032156
56RPGRIP1RPGRIP1, 1-BP DEL, ASP1176deletionPathogenic
57RPGRIP1NM_020366.3(RPGRIP1): c.194G> A (p.Trp65Ter)single nucleotide variantPathogenicrs137853124GRCh37Chr 14, 21762944: 21762944
58RPGRIP1RPGRIP1, 1-BP INS, GLN893insertionPathogenic
59RPGRIP1RPGRIP1, 1-BP DEL, LYS342deletionPathogenic
60RPGRIP1RPGRIP1, 3-BP DEL, 3835GAGdeletionPathogenic
61LRATLRAT, 2-BP DEL, 217ATdeletionPathogenic
62CRB1NM_201253.2(CRB1): c.3997G> T (p.Glu1333Ter)single nucleotide variantPathogenicrs137853136GRCh37Chr 1, 197411414: 197411414
63GDF6GDF6, GLU292ASPsingle nucleotide variantPathogenic
64GDF6NM_001001557.2(GDF6): c.169G> C (p.Asp57His)single nucleotide variantPathogenicrs397514725GRCh37Chr 8, 97172752: 97172752
65GUCY2DNM_000180.3(GUCY2D): c.3233_3236dupACCA (p.His1079Glnfs)duplicationPathogenicrs386834239GRCh37Chr 17, 7919769: 7919772
66CRXCRX, 2-BP DEL, GLU168deletionPathogenic
67CRXCRX, 1-BP DEL, GLY217deletionPathogenic
68CRXCRX, 1-BP DEL, 520GdeletionPathogenic
69PEX1NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)single nucleotide variantPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876
70GDF6NM_001001557.2(GDF6): c.746C> A (p.Ala249Glu)single nucleotide variantPathogenicrs121909352GRCh37Chr 8, 97157413: 97157413
71GUCY2DGUCY2D, 1-BP DEL, 460CdeletionPathogenic
72GUCY2DGUCY2D, 1-BP DEL, 693CdeletionPathogenic
73GUCY2DGUCY2D, 1-BP DEL, 2943GdeletionPathogenic
74LCA5NM_181714.3(LCA5): c.1151delC (p.Pro384Glnfs)deletionPathogenicrs386834252GRCh37Chr 6, 80198881: 80198881
75LCA5NM_181714.3(LCA5): c.1476dupA (p.Pro493Thrfs)duplicationPathogenicrs386834253GRCh37Chr 6, 80197339: 80197339
76LCA5NM_181714.3(LCA5): c.-1688_-298+207del1598deletionPathogenicGRCh37Chr 6, 80246626: 80248223

Expression for genes affiliated with Leber Congenital Amaurosis

About this section
Search GEO for disease gene expression data for Leber Congenital Amaurosis.

Pathways for genes affiliated with Leber Congenital Amaurosis

About this section

GO Terms for genes affiliated with Leber Congenital Amaurosis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:000175010.6CEP290, IQCB1, TULP1
2ciliumGO:000592910.4LCA5, RPGRIP1, TULP1
3photoreceptor connecting ciliumGO:003239110.4CEP290, IQCB1, RPGRIP1, SPATA7
4axonemeGO:000593010.4LCA5, RPGRIP1, SPATA7

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1vitamin A metabolic processGO:000677611.0LRAT, RPE65
2detection of light stimulus involved in visual perceptionGO:005090810.9RPE65, TULP1
3protein localization to photoreceptor outer segmentGO:190354610.9SPATA7, TULP1
4establishment or maintenance of cell polarityGO:000716310.8CEP290, CRB1
5eye photoreceptor cell developmentGO:004246210.8CEP290, CRB1, RPGRIP1, TULP1
6retina development in camera-type eyeGO:006004110.7CEP290, CRX, IMPDH1, RD3, RPE65, RPGRIP1
7response to stimulusGO:005089610.6CRX, RD3, RPGRIP1, SPATA7
8retinoid metabolic processGO:000152310.6LRAT, RDH12, RPE65
9photoreceptor cell maintenanceGO:004549410.5CEP290, IQCB1, LCA5, RDH12, SPATA7, TULP1
10phototransduction, visible lightGO:000760310.4AIPL1, GUCY2D, LRAT, RDH12, RPE65
11retinol metabolic processGO:004257210.4LRAT, RDH12, RPE65
12retina homeostasisGO:000189510.3AIPL1, RPE65, TULP1
13visual perceptionGO:000760110.2AIPL1, CRX, GUCY2D, LRAT, RD3, RDH12

Sources for Leber Congenital Amaurosis

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet