MCID: LBR001
MIFTS: 61

Leber Congenital Amaurosis malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Leber Congenital Amaurosis

About this section
Sources:
33LifeMap Discovery®, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Leber Congenital Amaurosis:

Name: Leber Congenital Amaurosis 33 11 22 46 23 24 13 52 37 66
Lca 11 22 46 23 24
Leber's Amaurosis 11 46 24
Congenital Amaurosis of Retinal Origin 24 66
Amaurosis Congenita of Leber 23 52
Congenital Retinal Blindness 46 24
Amaurosis, Leber Congenital 24 25
Leber's Congenital Tapetoretinal Degeneration 46
Leber Congenital Tapetoretinal Degeneration 24
Leber's Congenital Tapetoretinal Dysplasia 46
Hereditary Epithelial Dysplasia of Retina 24
Congenital Absence of the Rods and Cones 46
Dysgenesis Neuroepithelialis Retinae 24
 
Amaurosis Congenita of Leber, Type 1 66
Leber Congenital Amaurosis Type 14 11
Leber Congenital Amaurosis Type 13 11
Optic Atrophy, Hereditary, Leber 66
Heredoretinopathia Congenitalis 24
Leber's Congenital Amaurosis 11
Lebers Congenital Amaurosis 48
Hereditary Retinal Aplasia 24
Leber Abiotrophy 24
Leber's Disease 11
Leber Amaurosis 23
Crb 24

Characteristics:

Orphanet epidemiological data:

52
leber congenital amaurosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

Disease Ontology11 DOID:14791
MeSH37 D057130
Orphanet52 ORPHA65
SNOMED-CT60 193413001
UMLS via Orphanet67 C0339527
ICD10 via Orphanet29 H35.5
MESH via Orphanet38 D057130

Summaries for Leber Congenital Amaurosis

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NIH Rare Diseases:46 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 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. different sub-types are described, caused by mutations in different genes. some of these sub-types are also distinguished by their patterns of vision loss, and related eye abnormalities. treatment includes correction farsightedness and use of  low-vision aids when possible. last updated: 6/16/2016

MalaCards based summary: Leber Congenital Amaurosis, also known as lca, is related to senior-loken syndrome-1 and leber congenital amaurosis 12, and has symptoms including visual impairment, optic atrophy and abnormality of retinal pigmentation. An important gene associated with Leber Congenital Amaurosis is LRAT (Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol O-Acyltransferase)), 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 vision/eye.

Disease Ontology:11 A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Genetics Home Reference:24 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 NBK1298

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 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 85)
idRelated DiseaseScoreTop Affiliating Genes
1senior-loken syndrome-131.6CEP290, IFT140, IQCB1
2leber congenital amaurosis 1212.5
3leber congenital amaurosis 212.4
4leber congenital amaurosis 612.4
5leber congenital amaurosis 512.4
6leber congenital amaurosis 112.4
7leber congenital amaurosis 1412.4
8leber congenital amaurosis 1512.4
9leber congenital amaurosis 312.4
10leber congenital amaurosis 912.4
11leber congenital amaurosis 812.4
12leber congenital amaurosis 1112.4
13leber congenital amaurosis 712.4
14leber congenital amaurosis 1612.4
15leber congenital amaurosis 1012.4
16leber congenital amaurosis 1312.4
17leber congenital amaurosis 412.4
18leber congenital amaurosis 1712.3
19aipl1-related leber congenital amaurosis12.2
20gucy2d-related leber congenital amaurosis12.2
21rpe65-related leber congenital amaurosis12.2
22nmnat1-related leber congenital amaurosis12.2
23iqcb1-related leber congenital amaurosis12.1
24kcnj13-related leber congenital amaurosis12.1
25cep290-related leber congenital amaurosis12.1
26crb1-related leber congenital amaurosis12.1
27crx-related leber congenital amaurosis12.1
28impdh1-related leber congenital amaurosis12.1
29lca5-related leber congenital amaurosis12.1
30lrat-related leber congenital amaurosis12.1
31rd3-related leber congenital amaurosis12.1
32rdh12-related leber congenital amaurosis12.1
33rpgrip1-related leber congenital amaurosis12.1
34spata7-related leber congenital amaurosis12.1
35tulp1-related leber congenital amaurosis12.1
36retinitis pigmentosa 7 and digenic11.6
37leber hereditary optic neuropathy11.1
38rpgr-related retinitis pigmentosa11.0AIPL1, CRX, GUCY2D, RPE65, RPGRIP1
39bullous skin disease11.0CEP290, CRB1, GUCY2D, LCA5, SPATA7
40systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood11.0LCA5, LRAT, RPE65, SPATA7
41alk-related neuroblastoma susceptibility11.0AIPL1, CEP290, GUCY2D, RPE65
42impetigo herpetiformis11.0AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12
43leber congenital amaurosis11.0AIPL1, CRB1, CRX, GUCY2D, RPE65
44congenital muscular dystrophy with cerebellar involvement11.0
45localized scleroderma11.0CRB1, CRX, GUCY2D, RD3, RPE65, RPGRIP1
46hypertrichosis terminalis, generalized, with or without gingival hyperplasia10.9CRB1, CRX, GUCY2D
47ovarian embryonal carcinoma10.9AIPL1, CEP290, CRB1, CRX, GUCY2D, IMPDH1
48ichthyosis, congenital, autosomal recessive 310.9AIPL1, CRB1, CRX, IFT140, RPE65, TULP1
49osteopoikilosis and dacryocystitis10.9CRB1, CRX, IFT140, RPE65, TULP1
50hypertrichotic osteochondrodysplasia10.9CRB1, CRX, IFT140, RPE65, TULP1

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:

 52 (show all 16)
  • hearing impairment
  • abnormal electroretinogram
  • cataract
  • keratoconus
  • nystagmus
  • severe visual impairment
  • intellectual disability
  • seizures
  • muscular hypotonia
  • global developmental delay
  • encephalocele
  • abnormality of neuronal migration
  • hemiplegia/hemiparesis
  • aplasia/hypoplasia of the cerebellar vermis
  • abnormal retinal pigmentation
  • abnormality of the optic disc

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

UMLS symptoms related to Leber Congenital Amaurosis:


ataxia, static tremor, hepatomegaly, photophobia

Drugs & Therapeutics for Leber Congenital Amaurosis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Retinol acetatePhase 197127-47-910245972
Synonyms:
13-cis-Retinyl acetate
Acetateall-trans-Retinol
Acetic acid, retinyl ester
All-trans-Retinyl acetate
All-trans-retinol acetate
All-trans-retinyl acetate
All-trans-retinylacetate
All-trans-vitamin a acetate
Crystalets
Davitan A 650
Myvak (van)
Myvax (van)
O(15)-Acetylretinol
O~15~-Acetyl-retinol
O~15~-Acetylretinol
 
RETINOL ACETATE (SEE RETINOIDPROJECTS 1 AND 3)
Retinol acetate
Retinol acetate (JP15)
Retinol, acetate
Retinol, acetate, all-trans- (8CI)
Retinol, acetate, labeled with tritium
Retinyl acetate
Trans-retinyl acetate
Trans-vitamin a acetate
Vitamin A acetate
Vitamin A1 acetate
Vitamin a acetate (tritiated)
Vitamin a acetate (van)
Vitamin a alcohol acetate
Vitamin a ester
Vitamin a, acetate
2
Vitamin ANutraceuticalPhase 145011103-57-4, 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
(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 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
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 A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
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
3retinolNutraceuticalPhase 1450
4LecithinNutraceuticalPhase 168
5
acetic acidNutraceuticalPhase 110164-19-7176
Synonyms:
ACETATE ion
Acetate
Acetic acid, glacial
Acetic acid, ion(1-)
Azetat
CH3-COO(-)
Ethanoat
Ethanoate
Ethanoic acid
 
Ethylate
Ethylic acid
Glacial acetate
Glacial acetic acid
Kyselina octova
MeCO2 anion
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid

Interventional clinical trials:

(show all 15)
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
9Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)RecruitingNCT02781480Phase 1
10Safety Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00516477Phase 1
11Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsActive, not recruitingNCT00481546Phase 1
12Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRATCompletedNCT02575430
13Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal DystrophyCompletedNCT00422721
14Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65RecruitingNCT02714816
15Inherited 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

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Genetic tests related to Leber Congenital Amaurosis:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis25 23 TULP1

Anatomical Context for Leber Congenital Amaurosis

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MalaCards organs/tissues related to Leber Congenital Amaurosis:

34
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

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MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.6CEP290, CRB1, CRX, LCA5, RPE65, TULP1
2MP:000539110.0AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D
3MP:00036319.7AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D

Publications for Leber Congenital Amaurosis

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Articles related to Leber Congenital Amaurosis:

(show top 50)    (show all 286)
idTitleAuthorsYear
1
Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes. (26427408)
2016
2
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. (27645772)
2016
3
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. (27422788)
2016
4
Review and update on the molecular basis of Leber congenital amaurosis. (25685757)
2015
5
AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. (25965394)
2015
6
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. (24830548)
2014
7
Pathophysilogical mechanism and treatment strategies for Leber congenital amaurosis. (24664772)
2014
8
A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro. (25383945)
2014
9
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation. (24752437)
2014
10
Human induced pluripotent stem cells as a tool to model a form of Leber congenital amaurosis. (23663011)
2013
11
Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290. (23411883)
2013
12
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. (22842230)
2012
13
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation. (23344081)
2012
14
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. (21862650)
2011
15
Dietary 9-cis-I^,I^-carotene fails to rescue vision in mouse models of leber congenital amaurosis. (21862692)
2011
16
Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy. (21474771)
2011
17
IQCB1 mutations in patients with leber congenital amaurosis. (20881296)
2011
18
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects. (19584904)
2010
19
Blind dogs that can see: pharmacological treatment of Leber congenital amaurosis caused by a defective visual cycle. (21060052)
2010
20
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. (20006823)
2009
21
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. (19503738)
2009
22
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India. (19753312)
2009
23
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex. (18408180)
2008
24
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. (17964524)
2007
25
Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. (17438524)
2007
26
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (16806805)
2006
27
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. (17032058)
2006
28
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA. (17249548)
2006
29
Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hm0534. (17297689)
2006
30
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. (16339905)
2005
31
Characterization of the crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis. (15851977)
2005
32
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. (15365178)
2004
33
Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. (15322982)
2004
34
The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments. (15347646)
2004
35
Thirty-year follow-up of a patient with Leber congenital amaurosis and novel RPE65 mutations. (14962443)
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
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis. (14517541)
2003
39
Implications of genetic analysis in Leber congenital amaurosis. (11231777)
2001
40
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. (11389483)
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
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis. (10090910)
1999
44
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. (9537410)
1998
45
Vision in patients with leber congenital amaurosis. (9046276)
1997
46
Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients. (8892367)
1996
47
Leber congenital amaurosis and its association with keratoconus and keratoglobus. (8195961)
1994
48
Central nervous system involvement in Leber congenital amaurosis. (1512663)
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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Clinvar genetic disease variations for Leber Congenital Amaurosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LRATLRAT, 2-BP DEL, 217ATdeletionPathogenic
2PEX1NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)single nucleotide variantPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876

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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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 outer segmentGO:000175010.7IFT140, IQCB1, TULP1
2photoreceptor connecting ciliumGO:003239110.7CEP290, IFT140, IQCB1, RPGRIP1, SPATA7
3ciliary basal bodyGO:003606410.6CEP290, IFT140, SPATA7
4nonmotile primary ciliumGO:003151310.4IFT140, RPGRIP1
5ciliumGO:000592910.4IFT140, LCA5, RPGRIP1, TULP1
6axonemeGO:000593010.3IFT140, RPGRIP1, SPATA7

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1vitamin A metabolic processGO:000677611.1LRAT, RPE65
2protein localization to photoreceptor outer segmentGO:190354611.0SPATA7, TULP1
3detection of light stimulus involved in visual perceptionGO:005090810.9RPE65, TULP1
4eye photoreceptor cell developmentGO:004246210.8CEP290, CRB1, RPGRIP1, TULP1
5retina homeostasisGO:000189510.8AIPL1, RPE65, TULP1
6retinoid metabolic processGO:000152310.7LRAT, RDH12, RPE65
7response to stimulusGO:005089610.6CRX, LRAT, RD3, RDH12, RPGRIP1, SPATA7
8retinol metabolic processGO:004257210.6LRAT, RDH12, RPE65
9cilium assemblyGO:004238410.4CEP290, IFT140, IQCB1
10retina development in camera-type eyeGO:006004110.3IFT140, IMPDH1, RD3, RPE65, RPGRIP1, TULP1
11visual perceptionGO:000760110.1AIPL1, CRX, GUCY2D, LRAT, RD3, RDH12
12photoreceptor cell maintenanceGO:004549410.0IQCB1, RDH12, SPATA7, TULP1

Sources for Leber Congenital Amaurosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet