MCID: LBR001
MIFTS: 50

Leber Congenital Amaurosis malady

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

Aliases & Classifications for Leber Congenital Amaurosis

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 24GTR, 47Novoseek, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Leber Congenital Amaurosis:

Name: Leber Congenital Amaurosis 32 10 21 45 22 23 12 51 36 65
Lca 10 21 45 22 23
Leber's Amaurosis 10 45 23
Congenital Amaurosis of Retinal Origin 23 65
Amaurosis Congenita of Leber 22 51
Congenital Retinal Blindness 45 23
Leber Amaurosis 22 24
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
Amaurosis Congenita of Leber, Type 1 65
 
Dysgenesis Neuroepithelialis Retinae 23
Leber Congenital Amaurosis Type 14 10
Leber Congenital Amaurosis Type 13 10
Optic Atrophy, Hereditary, Leber 65
Heredoretinopathia Congenitalis 23
Leber's Congenital Amaurosis 10
Amaurosis, Leber Congenital 23
Lebers Congenital Amaurosis 47
Hereditary Retinal Aplasia 23
Leber Abiotrophy 23
Leber's Disease 10
Crb 23

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

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Disease Ontology10 DOID:14791
MeSH36 D057130
Orphanet51 65
SNOMED-CT59 193413001
UMLS via Orphanet66 C0339527
ICD10 via Orphanet28 H35.5
MESH via Orphanet37 D057130
UMLS65 C0339527, C2931258, C3540662

Summaries for Leber Congenital Amaurosis

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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 senior-loken syndrome-1 and leukemia, 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 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 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 251)
idRelated DiseaseScoreTop Affiliating Genes
1senior-loken syndrome-131.8CEP290, IFT140, RPGRIP1
2leukemia31.3AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D
3influenza31.2AIPL1, CRB1, CRX, GUCY2D, RD3, RPE65
4leber congenital amaurosis 312.8
5leber congenital amaurosis 212.8
6leber congenital amaurosis 612.8
7leber congenital amaurosis 512.8
8leber congenital amaurosis 112.8
9leber congenital amaurosis 912.8
10leber congenital amaurosis 1112.8
11leber congenital amaurosis 1212.8
12leber congenital amaurosis 1012.8
13leber congenital amaurosis 1412.8
14leber congenital amaurosis 1512.8
15leber congenital amaurosis 412.8
16leber congenital amaurosis 812.8
17leber congenital amaurosis 712.8
18leber congenital amaurosis 1612.8
19leber congenital amaurosis 1312.8
20leber congenital amaurosis 1712.7
21nmnat1-related leber congenital amaurosis12.6
22iqcb1-related leber congenital amaurosis12.5
23aipl1-related leber congenital amaurosis12.5
24cep290-related leber congenital amaurosis12.5
25crb1-related leber congenital amaurosis12.5
26crx-related leber congenital amaurosis12.5
27gucy2d-related leber congenital amaurosis12.5
28impdh1-related leber congenital amaurosis12.5
29kcnj13-related leber congenital amaurosis12.5
30lca5-related leber congenital amaurosis12.5
31lrat-related leber congenital amaurosis12.5
32rd3-related leber congenital amaurosis12.5
33rdh12-related leber congenital amaurosis12.5
34rpe65-related leber congenital amaurosis12.5
35rpgrip1-related leber congenital amaurosis12.5
36spata7-related leber congenital amaurosis12.5
37tulp1-related leber congenital amaurosis12.5
38retinitis pigmentosa 7 and digenic12.0
39leber hereditary optic neuropathy11.5
40rpe65-related retinitis pigmentosa10.7AIPL1, CRX, GUCY2D, RPE65, RPGRIP1
41alk-positive large b-cell lymphoma10.7LCA5, LRAT, RPE65, SPATA7
42aipl1-related retinitis pigmentosa10.7AIPL1, CEP290, GUCY2D, RPE65
43fundus dystrophy10.6CEP290, CRB1, LCA5, SPATA7
44deficiency anemia10.6CRB1, CRX, LRAT, RPE65
45embryonal testis carcinoma10.6AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12
46keratopathy10.6AIPL1, CRB1, CRX, GUCY2D
47naegeli-franceschetti-jadassohn syndrome10.6AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1
48bullous skin disease10.6AIPL1, CEP290, CRB1, CRX, GUCY2D, LCA5
49andersen syndrome10.6CRB1, CRX, GUCY2D
50ichthyosis, congenital, autosomal recessive 210.6AIPL1, RPE65

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:

 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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Aapproved, nutraceuticalPhase 141311103-57-4, 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 1413
3retinolNutraceuticalPhase 1413
4LecithinNutraceuticalPhase 163

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
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
11Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)Not yet recruitingNCT02781480Phase 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 Amaurosis22 TULP1

Anatomical Context for Leber Congenital Amaurosis

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MalaCards organs/tissues related to Leber Congenital Amaurosis:

33
Retina, Eye, Cerebellum, Endothelial, Brain, Lung, Heart

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.4CEP290, CRB1, CRX, LCA5, RPE65, TULP1
2MP:000363110.0AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D
3MP:00053919.7AIPL1, 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 270)
idTitleAuthorsYear
1
Recommendations for treatment of lymphomatoid papulosis with methotrexate: a report from the Dutch Cutaneous Lymphoma Group. (25998985)
2015
2
Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia. (26059562)
2015
3
STK33 overexpression in hypopharyngeal squamous cell carcinoma: possible role in tumorigenesis. (25603720)
2015
4
Resistin 420C/G gene polymorphism on circulating resistin, metabolic risk factors and insulin resistance in adult women. (25088792)
2014
5
Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings. (23385635)
2013
6
Sequential treatment of advanced-stage lung adenocarcinoma harboring wild-type EGFR gene: second-line pemetrexed followed by third-line erlotinib versus the reverse sequence. (23898110)
2013
7
Factors predicting long-term survival in colorectal cancer patients with a normal preoperative serum level of carcinoembryonic antigen. (23765330)
2013
8
Serum cystatin C and tubular urinary enzymes as biomarkers of renal dysfunction in type 2 diabetes mellitus. (23966807)
2013
9
Babesiosis among elderly Medicare beneficiaries, United States, 2006-2008. (22257500)
2012
10
Histone deacetylase inhibitors control the transcription and alternative splicing of prohibitin in thyroid tumor cells. (21152868)
2011
11
Multidisciplinary approach in management of placenta accreta. (21482389)
2011
12
Clinical reasoning and decision making in clinical practice: a boy with fatigue and abdominal pain]. (19785903)
2009
13
Knee resistance during passive stretch in patients with hypertonia. (19428544)
2009
14
Splenic marginal zone lymphoma: Clinical clustering of immunoglobulin heavy chain repertoires. (19250848)
2009
15
Tricyclic indole and dihydroindole derivatives as new inhibitors of soluble guanylate cyclase. (19560917)
2009
16
Myocardial calcinosis in chronic renal failure. (22470643)
2009
17
Human oligodendrocytes from embryonic stem cells: conserved SHH signaling networks and divergent FGF effects. (19363151)
2009
18
Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV. (18833191)
2008
19
Appendiceal mucocoeles and pseudomyxoma peritonei. (17511043)
2007
20
Serum IL-1beta levels are associated with the presence of erosions in recent onset rheumatoid arthritis. (18078614)
2007
21
Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison study. (17618834)
2007
22
Methemoglobinemia induced by exposure to topical benzocaine for an awake nasal intubation--a case report. (17694687)
2007
23
Urolithins, ellagic acid-derived metabolites produced by human colonic microflora, exhibit estrogenic and antiestrogenic activities. (16506809)
2006
24
Respiratory aspects of Riley-Day Syndrome: familial dysautonomia. (16798585)
2006
25
Nicorandil reduces myocardial no-reflow by protection of endothelial function via the activation of KATP channel. (16824503)
2006
26
Early CT signs in patients with acute middle cerebral artery occlusion: incidence of contrast staining and haemorrhagic transformations after intra-arterial reperfusion therapy. (16439221)
2006
27
Lung adenocarcinoma global profiling identifies type II transforming growth factor-beta receptor as a repressor of invasiveness. (15976377)
2005
28
Alpha-1 antitrypsin deficiency diagnosed in an 86-year-old-man. (15845118)
2005
29
Cloning and pharmacological characterization of the cat urotensin-II receptor (UT). (15763543)
2005
30
The prognostic importance of urinase type plasminogen activators (uPA) and plasminogen activator inhibitors (PAI-1) in the primary resection of oral squamous cell carcinoma]. (15138855)
2004
31
Secretion of cytokines and growth factors into autosomal dominant polycystic kidney disease liver cyst fluid. (15382115)
2004
32
Soluble receptor (DcR3) and cellular inhibitor of apoptosis-2 (cIAP-2) protect human cytotrophoblast cells against LIGHT-mediated apoptosis. (15215185)
2004
33
Presence of cortistatin in the human pancreas. (14669820)
2003
34
West syndrome--new therapeutic approach]. (15637997)
2001
35
Growth hormone receptor is expressed in human breast cancer. (11290538)
2001
36
The human homolog of Saccharomyces cerevisiae Mcm10 interacts with replication factors and dissociates from nuclease-resistant nuclear structures in G(2) phase. (11095689)
2000
37
Bell's palsy and HSV-1 infection. (10514225)
1999
38
The effect of varying molar ratios of potassium-magnesium citrate on thiazide-induced hypokalemia and magnesium loss. (9824785)
1998
39
Traumatic carotid artery dissection of restrained driver and thoracic aorta transection of unrestrained passenger in a motor vehicle accident: case report. (9314324)
1997
40
Association study of bipolar disorder with candidate genes involved in catecholamine neurotransmission: DRD2, DRD3, DAT1, and TH genes. (8950413)
1996
41
NADPH diaphorase activity in activated astrocytes representing inducible nitric oxide synthase. (8782615)
1996
42
Quenching of the tyrosyl free radical of ribonucleotide reductase by nitric oxide. Relationship to cytostasis induced in tumor cells by cytotoxic macrophages. (7520445)
1994
43
Prostaglandin E2 differentially modulates cytokine secretion profiles of human T helper lymphocytes. (8390534)
1993
44
The association of bronchiolitis obliterans organizing pneumonia, systemic lupus erythematosus, and Hunner's cystitis. (8339671)
1993
45
Preparation of peptide mixture with high Fischer ratio from protein hydrolysate by adsorption on activated carbon. (1369246)
1992-1993
46
Cultured astrocytes express mRNA for peptidylglycine-alpha-amidating monooxygenase, a neuropeptide processing enzyme. (1467983)
1992
47
Mechanism of neutrophil activation by an unopsonized inflammatory particulate. Monosodium urate crystals induce pertussis toxin-insensitive hydrolysis of phosphatidylinositol 4,5-bisphosphate. (1645760)
1991
48
The coronary-subclavian steal syndrome: report of a case and recommendations for prevention and management. (2898238)
1988
49
The Stickler syndrome (hereditary arthroophthalmopathy). (776247)
1975
50

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
1USH2ANM_206933.2(USH2A): c.14243C> T (p.Ser4748Phe)single nucleotide variantLikely pathogenicrs527236126GRCh38Chr 1, 215650692: 215650692
2CLUAP1NM_015041.2(CLUAP1): c.817C> T (p.Leu273Phe)single nucleotide variantPathogenicrs751218423GRCh37Chr 16, 3573261: 3573261
3CRXNM_000554.4(CRX): c.648delC (p.Ser216Argfs)deletionLikely pathogenicrs869312175GRCh38Chr 19, 47839715: 47839715
4LRATLRAT, 2-BP DEL, 217ATdeletionPathogenic
5PEX1NM_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 connecting ciliumGO:003239110.4CEP290, IFT140, RPGRIP1

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

idNameGO IDScoreTop Affiliating Genes
1retinol metabolic processGO:004257210.9LRAT, RPE65
2protein localization to photoreceptor outer segmentGO:190354610.9SPATA7, TULP1
3eye photoreceptor cell developmentGO:004246210.7CEP290, CRB1
4response to stimulusGO:005089610.5RD3, RDH12, RPGRIP1
5visual perceptionGO:000760110.4LRAT, RDH12, RPE65
6retinoid metabolic processGO:000152310.3RDH12, RPE65

Sources for Leber Congenital Amaurosis

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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