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

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Aliases & Descriptions for Leber Congenital Amaurosis 4:

Name: Leber Congenital Amaurosis 4 52 11 48 70 13 68
Lca4 11 48 70
Leber Congenital Amaurosis Type 4 48 27
Amaurosis Congenita of Leber, Type 4 48
 
Retinitis Pigmentosa, Juvenile 52
Retinitis Pigmentosa 68
Cone-Rod Dystrophy 52

Characteristics:

HPO:

64
leber congenital amaurosis 4:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 604393
Disease Ontology11 DOID:0110332
ICD1030 H35.5
MeSH39 D057130

Summaries for Leber Congenital Amaurosis 4

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OMIM:52 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 optic disc pallor, cone/cone-rod dystrophy and keratoconus. An important gene associated with Leber Congenital Amaurosis 4 is AIPL1 (Aryl Hydrocarbon Receptor Interacting Protein Like 1), and among its related pathways are Phototransduction and Development_Thrombopoetin signaling via JAK-STAT pathway. Affiliated tissues include retina, bone and eye, and related mouse phenotypes are pigmentation and nervous system.

Disease Ontology:11 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:70 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

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

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1cone-rod dystrophy12.8
2cone-rod dystrophy 312.6
3spondylometaphyseal dysplasia with cone-rod dystrophy12.6
4cone-rod dystrophy 912.6
5cone-rod dystrophy 712.6
6cone-rod dystrophy, x-linked, 112.6
7cone-rod dystrophy 1612.5
8cone-rod dystrophy 512.5
9cone-rod dystrophy 1812.5
10cone-rod dystrophy 2012.5
11cone-rod dystrophy 1912.5
12cone-rod dystrophy 1212.5
13cone-rod dystrophy 1512.5
14cone-rod dystrophy 1312.5
15cone-rod dystrophy 1112.5
16cone-rod dystrophy 1012.5
17cone-rod dystrophy 612.5
18cone-rod dystrophy 2112.4
19cone-rod dystrophy 812.4
20cone-rod dystrophy 1712.4
21cone-rod dystrophy 112.4
22x-linked cone-rod dystrophy 212.4
23jalili syndrome12.2
24cone-rod dystrophy 412.1
25cone-rod dystrophy, aipl1-related12.1
26cone-rod dystrophy, prph2-related12.1
27cone-rod dystrophy, unc119-related12.1
28cone-rod dystropy, x-linked, 312.0
29cone dystrophy-311.9
30newfoundland rod-cone dystrophy11.7
31retinitis pigmentosa11.5
32hypotrichosis, congenital, with juvenile macular dystrophy11.3
33leber congenital amaurosis 1411.2
34alstrom syndrome11.0
35cone dystrophy 411.0
36bardet-biedl syndrome 111.0
37leber congenital amaurosis 1011.0
38leber congenital amaurosis 311.0
39leber congenital amaurosis 111.0
40blue cone monochromacy11.0
41bardet-biedl syndrome11.0
42retinitis10.7
43amelogenesis imperfecta10.4
44stargardt disease10.3
45leber congenital amaurosis10.3
46ataxia10.2
47danon disease10.1
48myopia10.1
49megaloblastic anemia10.1
50retinal degeneration10.1

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

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Symptoms by clinical synopsis from OMIM:

604393

Clinical features from OMIM:

604393

Human phenotypes related to Leber Congenital Amaurosis 4:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 optic disc pallor64 HP:0000543
2 cone/cone-rod dystrophy64 HP:0000548
3 keratoconus64 HP:0000563
4 nyctalopia64 HP:0000662
5 macular atrophy64 HP:0007401
6 reduced visual acuity64 HP:0007663
7 undetectable light- and dark-adapted electroretinogram64 HP:0007688
8 attenuation of retinal blood vessels64 HP:0007843
9 pendular nystagmus64 HP:0012043

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 4 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1BEST1, CRX, RHO, RPE65
2MP:00036318.4AIPL1, CRX, RHO, RP1, RPE65
3MP:00053917.1AIPL1, BEST1, CRX, RHO, RP1, RPE65

Drugs & Therapeutics for Leber Congenital Amaurosis 4

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65CompletedNCT01496040Phase 1, Phase 2
2Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)RecruitingNCT02781480Phase 1
3Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsActive, not recruitingNCT00481546Phase 1
4Safety Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00516477Phase 1
5Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.CompletedNCT02970266

Search NIH Clinical Center for Leber Congenital Amaurosis 4

Genetic Tests for Leber Congenital Amaurosis 4

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Genetic tests related to Leber Congenital Amaurosis 4:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 427

Anatomical Context for Leber Congenital Amaurosis 4

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MalaCards organs/tissues related to Leber Congenital Amaurosis 4:

36
Retina, Bone, Eye

Publications for Leber Congenital Amaurosis 4

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Variations for Leber Congenital Amaurosis 4

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

70
id Symbol AA change Variation ID SNP ID
1AIPL1p.Cys239ArgVAR_010139rs62637012
2AIPL1p.Arg270HisVAR_067165

Clinvar genetic disease variations for Leber Congenital Amaurosis 4:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AIPL1NM_ 014336.4(AIPL1): c.834G> A (p.Trp278Ter)SNVPathogenicrs62637014GRCh37Chr 17, 6329101: 6329101
2AIPL1NM_ 014336.4(AIPL1): c.1010_ 1011delAG (p.Glu337Alafs)deletionPathogenicrs62637016GRCh37Chr 17, 6328924: 6328925
3AIPL1NM_ 014336.4(AIPL1): c.715T> C (p.Cys239Arg)SNVPathogenicrs62637012GRCh37Chr 17, 6330004: 6330004
4AIPL1NM_ 014336.4(AIPL1): c.589G> C (p.Ala197Pro)SNVPathogenicrs62637010GRCh37Chr 17, 6330254: 6330254
5AIPL1NM_ 014336.4(AIPL1): c.617T> A (p.Ile206Asn)SNVPathogenicrs62637011GRCh37Chr 17, 6330226: 6330226
6AIPL1NM_ 014336.4(AIPL1): c.784G> A (p.Gly262Ser)SNVPathogenic/ Likely pathogenicrs142326926GRCh37Chr 17, 6329935: 6329935

Expression for genes affiliated with Leber Congenital Amaurosis 4

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

Pathways for genes affiliated with Leber Congenital Amaurosis 4

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GO Terms for genes affiliated with Leber Congenital Amaurosis 4

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:00019179.1AIPL1, RHO, RP1
2photoreceptor outer segmentGO:00017509.0RHO, RP1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1circadian rhythmGO:000762310.2CRX, RPE65
2retina homeostasisGO:000189510.2AIPL1, RPE65
3detection of light stimulus involved in visual perceptionGO:005090810.1BEST1, RPE65
4response to light stimulusGO:000941610.0RHO, RPE65
5retinoid metabolic processGO:00015239.9RHO, RPE65
6retina morphogenesis in camera-type eyeGO:00600429.7RP1, RPE65
7cellular response to light stimulusGO:00714829.7RHO, RP1
8photoreceptor cell maintenanceGO:00454949.7RHO, RP1
9phototransduction, visible lightGO:00076039.3AIPL1, RHO, RP1
10retina development in camera-type eyeGO:00600419.1RHO, RP1, RPE65
11response to stimulusGO:00508967.8AIPL1, BEST1, CRX, RHO, RP1, RPE65
12visual perceptionGO:00076017.1AIPL1, BEST1, CRX, RHO, RP1, RPE65

Sources for Leber Congenital Amaurosis 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet