LCA4
MCID: LBR014
MIFTS: 44

Leber Congenital Amaurosis 4 (LCA4) malady

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

Aliases & Classifications for Leber Congenital Amaurosis 4

Aliases & Descriptions for Leber Congenital Amaurosis 4:

Name: Leber Congenital Amaurosis 4 54 12 50 66 14 69
Lca4 12 50 66
Leber Congenital Amaurosis Type 4 50 29
Amaurosis Congenita of Leber, Type 4 50
Retinitis Pigmentosa, Juvenile 54
Retinitis Pigmentosa 69
Cone-Rod Dystrophy 54

Characteristics:

HPO:

32
leber congenital amaurosis 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 604393
Disease Ontology 12 DOID:0110332
ICD10 33 H35.5
MeSH 42 D057130

Summaries for Leber Congenital Amaurosis 4

OMIM : 54 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and... (604393) more...

MalaCards based summary : Leber Congenital Amaurosis 4, also known as lca4, is related to cone-rod dystrophy and cone-rod dystrophy 3, and has symptoms including reduced visual acuity, keratoconus and optic disc pallor. An important gene associated with Leber Congenital Amaurosis 4 is AIPL1 (Aryl Hydrocarbon Receptor Interacting Protein Like 1), and among its related pathways/superpathways are Phototransduction and the visual cycle I (vertebrates). Affiliated tissues include bone, retina and eye, and related phenotypes are nervous system and pigmentation

Disease Ontology : 12 A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and has material basis in mutation in the AIPL1 gene on chromosome 17p13.

UniProtKB/Swiss-Prot : 66 Leber congenital amaurosis 4: 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.

Related Diseases for Leber Congenital Amaurosis 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 92)
id Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 12.8
2 cone-rod dystrophy 3 12.6
3 spondylometaphyseal dysplasia with cone-rod dystrophy 12.6
4 cone-rod dystrophy 9 12.6
5 cone-rod dystrophy 7 12.6
6 cone-rod dystrophy, x-linked, 1 12.6
7 cone-rod dystrophy 16 12.5
8 cone-rod dystrophy 5 12.5
9 cone-rod dystrophy 20 12.5
10 cone-rod dystrophy 19 12.5
11 cone-rod dystrophy 18 12.5
12 cone-rod dystrophy 13 12.5
13 cone-rod dystrophy 12 12.5
14 cone-rod dystrophy 11 12.5
15 cone-rod dystrophy 15 12.5
16 cone-rod dystrophy 10 12.5
17 cone-rod dystrophy 6 12.5
18 cone-rod dystrophy 21 12.4
19 cone-rod dystrophy 1 12.4
20 cone-rod dystrophy 17 12.4
21 cone-rod dystrophy 8 12.4
22 x-linked cone-rod dystrophy 2 12.4
23 jalili syndrome 12.2
24 cone-rod dystrophy 4 12.1
25 cone-rod dystrophy, aipl1-related 12.1
26 cone-rod dystrophy, prph2-related 12.1
27 cone-rod dystrophy, unc119-related 12.1
28 cone-rod dystropy, x-linked, 3 12.0
29 cone dystrophy-3 11.9
30 newfoundland rod-cone dystrophy 11.7
31 retinitis pigmentosa 11.5
32 hypotrichosis, congenital, with juvenile macular dystrophy 11.3
33 leber congenital amaurosis 14 11.2
34 leber congenital amaurosis 10 11.0
35 bardet-biedl syndrome 11.0
36 alstrom syndrome 11.0
37 leber congenital amaurosis 3 11.0
38 leber congenital amaurosis 1 11.0
39 cone dystrophy 4 11.0
40 bardet-biedl syndrome 1 11.0
41 blue cone monochromacy 11.0
42 retinitis 10.7
43 amelogenesis imperfecta 10.4
44 stargardt disease 10.3
45 leber congenital amaurosis 10.3
46 ataxia 10.2
47 retinal degeneration 10.1
48 myopia 10.1
49 danon disease 10.1
50 megaloblastic anemia 10.1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 4:



Diseases related to Leber Congenital Amaurosis 4

Symptoms & Phenotypes for Leber Congenital Amaurosis 4

Symptoms by clinical synopsis from OMIM:

604393

Clinical features from OMIM:

604393

Human phenotypes related to Leber Congenital Amaurosis 4:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 keratoconus 32 HP:0000563
3 optic disc pallor 32 HP:0000543
4 attenuation of retinal blood vessels 32 HP:0007843
5 pendular nystagmus 32 HP:0012043
6 cone/cone-rod dystrophy 32 HP:0000548
7 nyctalopia 32 HP:0000662
8 undetectable light- and dark-adapted electroretinogram 32 HP:0007688
9 macular atrophy 32 HP:0007401

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 4:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.55 AIPL1 CRX RHO RP1 RPE65
2 pigmentation MP:0001186 9.26 RHO RPE65 BEST1 CRX
3 vision/eye MP:0005391 9.1 AIPL1 BEST1 CRX RHO RP1 RPE65

Drugs & Therapeutics for Leber Congenital Amaurosis 4

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2
2 Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA) Recruiting NCT02781480 Phase 1
3 Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 Mutations Active, not recruiting NCT00481546 Phase 1
4 Safety Study in Subjects With Leber Congenital Amaurosis Active, not recruiting NCT00516477 Phase 1
5 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266

Search NIH Clinical Center for Leber Congenital Amaurosis 4

Genetic Tests for Leber Congenital Amaurosis 4

Genetic tests related to Leber Congenital Amaurosis 4:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 4 29

Anatomical Context for Leber Congenital Amaurosis 4

MalaCards organs/tissues related to Leber Congenital Amaurosis 4:

39
Bone, Retina, Eye

Publications for Leber Congenital Amaurosis 4

Variations for Leber Congenital Amaurosis 4

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 4:

66
id Symbol AA change Variation ID SNP ID
1 AIPL1 p.Cys239Arg VAR_010139 rs62637012
2 AIPL1 p.Arg270His VAR_067165

ClinVar genetic disease variations for Leber Congenital Amaurosis 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 AIPL1 NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter) single nucleotide variant Pathogenic rs62637014 GRCh37 Chromosome 17, 6329101: 6329101
2 AIPL1 NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs) deletion Pathogenic rs62637016 GRCh37 Chromosome 17, 6328924: 6328925
3 AIPL1 NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg) single nucleotide variant Pathogenic rs62637012 GRCh37 Chromosome 17, 6330004: 6330004
4 UNC119 NM_005148.3(UNC119): c.169A> T (p.Lys57Ter) single nucleotide variant Pathogenic rs267607166 GRCh37 Chromosome 17, 26879407: 26879407
5 AIPL1 NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro) single nucleotide variant Pathogenic rs62637010 GRCh37 Chromosome 17, 6330254: 6330254
6 AIPL1 NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn) single nucleotide variant Pathogenic rs62637011 GRCh37 Chromosome 17, 6330226: 6330226
7 AIPL1 NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser) single nucleotide variant Pathogenic/Likely pathogenic rs142326926 GRCh37 Chromosome 17, 6329935: 6329935

Expression for Leber Congenital Amaurosis 4

Search GEO for disease gene expression data for Leber Congenital Amaurosis 4.

Pathways for Leber Congenital Amaurosis 4

GO Terms for Leber Congenital Amaurosis 4

Cellular components related to Leber Congenital Amaurosis 4 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 RHO RP1
2 photoreceptor inner segment GO:0001917 8.8 AIPL1 RHO RP1

Biological processes related to Leber Congenital Amaurosis 4 according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 circadian rhythm GO:0007623 9.51 CRX RPE65
2 retinoid metabolic process GO:0001523 9.49 RHO RPE65
3 retina homeostasis GO:0001895 9.48 AIPL1 RPE65
4 photoreceptor cell maintenance GO:0045494 9.46 RHO RP1
5 response to light stimulus GO:0009416 9.43 RHO RPE65
6 retina development in camera-type eye GO:0060041 9.43 RHO RP1 RPE65
7 response to stimulus GO:0050896 9.43 AIPL1 BEST1 CRX RHO RP1 RPE65
8 detection of light stimulus involved in visual perception GO:0050908 9.4 BEST1 RPE65
9 retina morphogenesis in camera-type eye GO:0060042 9.37 RP1 RPE65
10 phototransduction, visible light GO:0007603 9.33 AIPL1 RHO RP1
11 cellular response to light stimulus GO:0071482 9.32 RHO RP1
12 visual perception GO:0007601 9.1 AIPL1 BEST1 CRX RHO RP1 RPE65

Sources for Leber Congenital Amaurosis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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