MCID: LBR012
MIFTS: 46

Leber Congenital Amaurosis 2

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

Aliases & Classifications for Leber Congenital Amaurosis 2

MalaCards integrated aliases for Leber Congenital Amaurosis 2:

Name: Leber Congenital Amaurosis 2 57 12 53 75 29 13 6 15
Lca2 57 12 53 75
Amaurosis Congenita of Leber, Type 2 76 53
Amaurosis Congenita of Leber Ii 57 12
Leber Congenital Amaurosis, Type Ii 73
Leber Congenital Amaurosis Type Ii 75
Leber Congenital Amaurosis, Type 2 40
Leber Congenital Amaurosis Type 2 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive with at least 6 different loci


HPO:

32
leber congenital amaurosis 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 2

OMIM : 57 Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (204100)

MalaCards based summary : Leber Congenital Amaurosis 2, also known as lca2, is related to leber congenital amaurosis and acute dacryocystitis. An important gene associated with Leber Congenital Amaurosis 2 is RPE65 (RPE65, Retinoid Isomerohydrolase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. The drugs Anti-Inflammatory Agents and Interleukin 1 Receptor Antagonist Protein have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are cataract and keratoconus

Disease Ontology : 12 A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has material basis in mutation in the RPE65 gene on chromosome 1.

UniProtKB/Swiss-Prot : 75 Leber congenital amaurosis 2: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.

Wikipedia : 76 Leber\'s congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the... more...

Related Diseases for Leber Congenital Amaurosis 2

Diseases in the Leber Congenital Amaurosis family:

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

Diseases related to Leber Congenital Amaurosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 10.0
2 acute dacryocystitis 10.0 CALM1 CALM2 CALM3
3 external ear disease 10.0 CALM1 CALM2 CALM3
4 long qt syndrome 15 10.0 CALM1 CALM2 CALM3
5 otitis externa 10.0 CALM1 CALM2 CALM3
6 otomycosis 10.0 CALM1 CALM2 CALM3
7 gestational choriocarcinoma 10.0 CALM1 CALM3
8 spontaneous ocular nystagmus 10.0 CALM1 CALM2 CALM3
9 sporotrichosis 9.9 CALM1 CALM2 CALM3
10 deafness, autosomal recessive 44 9.9 CALM1 CALM2 CALM3
11 dystonia 24 9.9 CALM1 CALM2 CALM3
12 triosephosphate isomerase deficiency 9.9 CALM1 CALM2 CALM3
13 primary systemic mycosis 9.9 CALM1 CALM2 CALM3
14 clear cell acanthoma 9.9 CALM1 CALM2 CALM3
15 cardiomyopathy, dilated, 1a 9.8 CALM1 CALM2 CALM3
16 cardiomyopathy, dilated, 1p 9.8 CALM1 CALM2 CALM3
17 deafness, autosomal dominant 2a 9.8 CALM1 CALM2 CALM3
18 primary cutaneous amyloidosis 9.7 CALM1 CALM2 CALM3
19 catecholaminergic polymorphic ventricular tachycardia 9.7 CALM1 CALM2 CALM3
20 long qt syndrome 1 9.6 CALM1 CALM2 CALM3
21 long qt syndrome 9.2 CALM1 CALM2 CALM3

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 2:



Diseases related to Leber Congenital Amaurosis 2

Symptoms & Phenotypes for Leber Congenital Amaurosis 2

Symptoms via clinical synopsis from OMIM:

57
Eye:
cataract
blindness
photophobia
keratoconus
pigmentary retinopathy
more
Brain:
hypoplastic cerebellar vermis

Neuro:
mental retardation


Clinical features from OMIM:

204100

Human phenotypes related to Leber Congenital Amaurosis 2:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 cataract 32 HP:0000518
2 keratoconus 32 HP:0000563
3 pigmentary retinopathy 32 HP:0000580
4 photophobia 32 HP:0000613
5 blindness 32 HP:0000618
6 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
7 fundus atrophy 32 HP:0001099
8 intellectual disability 32 HP:0001249
9 cerebellar vermis hypoplasia 32 HP:0001320
10 eye poking 32 HP:0001483
11 reduced visual acuity 32 HP:0007663

Drugs & Therapeutics for Leber Congenital Amaurosis 2

Drugs for Leber Congenital Amaurosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Inflammatory Agents Phase 1
2 Interleukin 1 Receptor Antagonist Protein Phase 1
3 Mitogens Phase 1
4 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital Amaurosis Completed NCT00749957 Phase 1, Phase 2
2 Study of Autologous Conditioned Serum After Anterior Cruciate Ligament Reconstructive Surgery Completed NCT01037738 Phase 1
3 Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65) Recruiting NCT02946879

Search NIH Clinical Center for Leber Congenital Amaurosis 2

Genetic Tests for Leber Congenital Amaurosis 2

Genetic tests related to Leber Congenital Amaurosis 2:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 2 29 RPE65

Anatomical Context for Leber Congenital Amaurosis 2

MalaCards organs/tissues related to Leber Congenital Amaurosis 2:

41
Eye, Retina

Publications for Leber Congenital Amaurosis 2

Articles related to Leber Congenital Amaurosis 2:

# Title Authors Year
1
Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. ( 23474247 )
2013

Variations for Leber Congenital Amaurosis 2

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 2:

75 (show all 25)
# Symbol AA change Variation ID SNP ID
1 RPE65 p.Leu22Pro VAR_017126 rs61751277
2 RPE65 p.Gly40Ser VAR_017127 rs61751281
3 RPE65 p.Arg44Gln VAR_017128 rs61751282
4 RPE65 p.His68Tyr VAR_017129 rs61752866
5 RPE65 p.Arg91Gln VAR_017131 rs61752873
6 RPE65 p.Tyr144Asp VAR_017133 rs61752880
7 RPE65 p.His182Tyr VAR_017134 rs61752884
8 RPE65 p.Val287Phe VAR_017135 rs281865289
9 RPE65 p.Pro363Thr VAR_017138 rs121917744
10 RPE65 p.Ala393Gly VAR_017140 rs62635773
11 RPE65 p.Glu417Gln VAR_017141 rs62636299
12 RPE65 p.Tyr431Cys VAR_018151 rs62636300
13 RPE65 p.Ala434Val VAR_034477 rs34627040
14 RPE65 p.Glu102Lys VAR_060812 rs62642584
15 RPE65 p.Glu148Asp VAR_060813 rs61752882
16 RPE65 p.Asp167Tyr VAR_060814 rs61752883
17 RPE65 p.His182Asn VAR_060815 rs61752884
18 RPE65 p.Tyr239Asp VAR_060816 rs61752896
19 RPE65 p.Cys330Tyr VAR_060818 rs61752908
20 RPE65 p.Ala393Glu VAR_060819
21 RPE65 p.Tyr435Cys VAR_060820 rs62636302
22 RPE65 p.Pro470Leu VAR_060822
23 RPE65 p.Phe70Val VAR_067160
24 RPE65 p.Arg91Pro VAR_067161 rs61752873
25 RPE65 p.His313Arg VAR_067163

ClinVar genetic disease variations for Leber Congenital Amaurosis 2:

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPE65 RPE65, 1-BP DEL, 1067A deletion Pathogenic
2 RPE65 NM_000329.2(RPE65): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs61752895 GRCh37 Chromosome 1, 68905269: 68905269
3 RPE65 NM_000329.2(RPE65): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs61752895 GRCh38 Chromosome 1, 68439586: 68439586
4 RPE65 NM_000329.2(RPE65): c.271C> T (p.Arg91Trp) single nucleotide variant Pathogenic rs61752871 GRCh37 Chromosome 1, 68910541: 68910541
5 RPE65 NM_000329.2(RPE65): c.271C> T (p.Arg91Trp) single nucleotide variant Pathogenic rs61752871 GRCh38 Chromosome 1, 68444858: 68444858
6 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh37 Chromosome 1, 68895518: 68895518
7 RPE65 NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic rs121917745 GRCh38 Chromosome 1, 68429835: 68429835
8 RPE65 NM_000329.2(RPE65): c.1102T> C (p.Tyr368His) single nucleotide variant Pathogenic rs62653011 GRCh37 Chromosome 1, 68903896: 68903896
9 RPE65 NM_000329.2(RPE65): c.1102T> C (p.Tyr368His) single nucleotide variant Pathogenic rs62653011 GRCh38 Chromosome 1, 68438213: 68438213
10 RPE65 RPE65, IVS1, G-A, +5 single nucleotide variant Pathogenic
11 RPE65 NM_000329.2(RPE65): c.907A> T (p.Lys303Ter) single nucleotide variant Pathogenic rs61752904 GRCh37 Chromosome 1, 68904716: 68904716
12 RPE65 NM_000329.2(RPE65): c.907A> T (p.Lys303Ter) single nucleotide variant Pathogenic rs61752904 GRCh38 Chromosome 1, 68439033: 68439033
13 RPE65 NM_000329.2(RPE65): c.1292A> G (p.Tyr431Cys) single nucleotide variant Pathogenic rs62636300 GRCh37 Chromosome 1, 68897011: 68897011
14 RPE65 NM_000329.2(RPE65): c.1292A> G (p.Tyr431Cys) single nucleotide variant Pathogenic rs62636300 GRCh38 Chromosome 1, 68431328: 68431328
15 RPE65 NM_000329.2(RPE65): c.11+5G> A single nucleotide variant Pathogenic rs61751276 GRCh37 Chromosome 1, 68915573: 68915573
16 RPE65 NM_000329.2(RPE65): c.11+5G> A single nucleotide variant Pathogenic rs61751276 GRCh38 Chromosome 1, 68449890: 68449890
17 RPE65 NM_000329.2(RPE65): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs61752877 GRCh37 Chromosome 1, 68910339: 68910339
18 RPE65 NM_000329.2(RPE65): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs61752877 GRCh38 Chromosome 1, 68444656: 68444656
19 RPE65 NM_000329.2(RPE65): c.149_150delTT (p.Phe50Terfs) deletion Pathogenic rs886042807 GRCh37 Chromosome 1, 68912488: 68912489
20 RPE65 NM_000329.2(RPE65): c.149_150delTT (p.Phe50Terfs) deletion Pathogenic rs886042807 GRCh38 Chromosome 1, 68446805: 68446806
21 RPE65 NM_000329.2(RPE65): c.130C> T (p.Arg44Ter) single nucleotide variant Pathogenic rs368088025 GRCh37 Chromosome 1, 68912508: 68912508
22 RPE65 NM_000329.2(RPE65): c.130C> T (p.Arg44Ter) single nucleotide variant Pathogenic rs368088025 GRCh38 Chromosome 1, 68446825: 68446825
23 RPE65 NM_000329.2(RPE65): c.1302G> A (p.Ala434=) single nucleotide variant Benign rs62636301 GRCh37 Chromosome 1, 68897001: 68897001
24 RPE65 NM_000329.2(RPE65): c.1302G> A (p.Ala434=) single nucleotide variant Benign rs62636301 GRCh38 Chromosome 1, 68431318: 68431318
25 RPE65 NM_000329.2(RPE65): c.419G> A (p.Gly140Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 68910290: 68910290
26 RPE65 NM_000329.2(RPE65): c.419G> A (p.Gly140Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 68444607: 68444607
27 RPE65 NM_000329.2(RPE65): c.215T> C (p.Phe72Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 68446740: 68446740
28 RPE65 NM_000329.2(RPE65): c.215T> C (p.Phe72Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 68912423: 68912423
29 RPE65 NM_000329.2(RPE65): c.556G> A (p.Asp186Asn) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 68906623: 68906623
30 RPE65 NM_000329.2(RPE65): c.556G> A (p.Asp186Asn) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 68440940: 68440940

Expression for Leber Congenital Amaurosis 2

Search GEO for disease gene expression data for Leber Congenital Amaurosis 2.

Pathways for Leber Congenital Amaurosis 2

Pathways related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

(show top 50) (show all 79)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 ATP2B2 CALM1 CALM2 CALM3
2
Show member pathways
12.73 ATP2B2 CALM1 CALM2 CALM3
3
Show member pathways
12.63 ATP2B2 CALM1 CALM2 CALM3
4
Show member pathways
12.48 CALM1 CALM2 CALM3
5
Show member pathways
12.46 ATP2B2 CALM1 CALM2 CALM3
6
Show member pathways
12.45 CALM1 CALM2 CALM3
7
Show member pathways
12.45 CALM1 CALM2 CALM3
8
Show member pathways
12.45 ATP2B2 CALM1 CALM2 CALM3
9
Show member pathways
12.43 CALM1 CALM2 CALM3
10
Show member pathways
12.4 CALM1 CALM2 CALM3
11
Show member pathways
12.39 CALM1 CALM2 CALM3 LMNB2
12
Show member pathways
12.34 CALM1 CALM2 CALM3
13
Show member pathways
12.33 CALM1 CALM2 CALM3
14
Show member pathways
12.32 CALM1 CALM2 CALM3
15
Show member pathways
12.32 CALM1 CALM2 CALM3
16
Show member pathways
12.3 CALM1 CALM2 CALM3
17
Show member pathways
12.29 CALM1 CALM2 CALM3
18
Show member pathways
12.28 CALM1 CALM2 CALM3
19 12.26 CALM1 CALM2 CALM3
20
Show member pathways
12.25 CALM1 CALM2 CALM3
21
Show member pathways
12.25 CALM1 CALM2 CALM3
22
Show member pathways
12.23 CALM1 CALM2 CALM3
23
Show member pathways
12.22 CALM1 CALM2 CALM3
24
Show member pathways
12.22 CALM1 CALM2 CALM3 RPE65
25
Show member pathways
12.18 CALM1 CALM2 CALM3
26
Show member pathways
12.18 ATP2B2 CALM1 CALM2 CALM3
27
Show member pathways
12.16 CALM1 CALM2 CALM3
28 12.14 CALM1 CALM2 CALM3
29
Show member pathways
12.14 ATP2B2 CALM1 CALM2 CALM3
30
Show member pathways
12.13 CALM1 CALM2 CALM3
31
Show member pathways
12.13 ATP2B2 CALM1 CALM2 CALM3
32
Show member pathways
12.12 CALM1 CALM2 CALM3
33
Show member pathways
12.1 CALM1 CALM2 CALM3
34
Show member pathways
12.08 CALM1 CALM2 CALM3
35 12.08 CALM1 CALM2 CALM3
36
Show member pathways
12.04 CALM1 CALM2 CALM3
37
Show member pathways
12.04 ATP2B2 CALM1 CALM2 CALM3
38 12.01 CALM1 CALM2 CALM3
39 12.01 CALM1 CALM2 CALM3
40
Show member pathways
11.97 CALM1 CALM2 CALM3 RPE65
41
Show member pathways
11.95 CALM1 CALM2 CALM3
42
Show member pathways
11.93 CALM1 CALM2 CALM3
43
Show member pathways
11.91 CALM1 CALM2 CALM3
44
Show member pathways
11.88 CALM1 CALM2 CALM3
45 11.86 CALM1 CALM2 CALM3
46 11.86 CALM1 CALM2 CALM3
47
Show member pathways
11.83 CALM1 CALM2 CALM3
48
Show member pathways
11.81 CALM1 CALM2 CALM3
49
Show member pathways
11.8 CALM1 CALM2 CALM3
50
Show member pathways
11.72 CALM1 CALM2 CALM3

GO Terms for Leber Congenital Amaurosis 2

Cellular components related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spindle GO:0005819 9.58 CALM1 CALM2 CALM3
2 vesicle GO:0031982 9.54 CALM1 CALM2 CALM3
3 spindle pole GO:0000922 9.5 CALM1 CALM2 CALM3
4 sarcomere GO:0030017 9.43 CALM1 CALM2 CALM3
5 spindle microtubule GO:0005876 9.33 CALM1 CALM2 CALM3
6 calcium channel complex GO:0034704 9.13 CALM1 CALM2 CALM3
7 catalytic complex GO:1902494 8.8 CALM1 CALM2 CALM3

Biological processes related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 9.77 CALM1 CALM2 CALM3
2 positive regulation of protein serine/threonine kinase activity GO:0071902 9.76 CALM1 CALM2 CALM3
3 substantia nigra development GO:0021762 9.75 CALM1 CALM2 CALM3
4 regulation of cytokinesis GO:0032465 9.74 CALM1 CALM2 CALM3
5 regulation of heart rate GO:0002027 9.73 CALM1 CALM2 CALM3
6 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.72 CALM1 CALM2 CALM3
7 positive regulation of protein autophosphorylation GO:0031954 9.71 CALM1 CALM2 CALM3
8 positive regulation of protein dephosphorylation GO:0035307 9.7 CALM1 CALM2 CALM3
9 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.69 CALM1 CALM2 CALM3
10 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.67 CALM1 CALM2 CALM3
11 regulation of cardiac muscle contraction GO:0055117 9.65 CALM1 CALM2 CALM3
12 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.63 CALM1 CALM2 CALM3
13 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.61 CALM1 CALM2 CALM3
14 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.58 CALM1 CALM2 CALM3
15 detection of calcium ion GO:0005513 9.54 CALM1 CALM2 CALM3
16 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.5 CALM1 CALM2 CALM3
17 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.43 CALM1 CALM2 CALM3
18 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.33 CALM1 CALM2 CALM3
19 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.13 CALM1 CALM2 CALM3
20 positive regulation of cyclic nucleotide metabolic process GO:0030801 8.8 CALM1 CALM2 CALM3

Molecular functions related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein domain specific binding GO:0019904 9.65 CALM1 CALM2 CALM3
2 ion channel binding GO:0044325 9.61 CALM1 CALM2 CALM3
3 disordered domain specific binding GO:0097718 9.54 CALM1 CALM2 CALM3
4 protein serine/threonine kinase activator activity GO:0043539 9.5 CALM1 CALM2 CALM3
5 titin binding GO:0031432 9.43 CALM1 CALM2 CALM3
6 calcium channel inhibitor activity GO:0019855 9.4 CALM1 CALM2
7 adenylate cyclase binding GO:0008179 9.33 CALM1 CALM2 CALM3
8 protein phosphatase activator activity GO:0072542 9.13 CALM1 CALM2 CALM3
9 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3
10 metal ion binding GO:0046872 10 ATP2B2 BLM CALM1 CALM2 CALM3 REV1

Sources for Leber Congenital Amaurosis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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