MCID: LBR014
MIFTS: 48

Leber Congenital Amaurosis 4

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

Aliases & Classifications for Leber Congenital Amaurosis 4

MalaCards integrated aliases for Leber Congenital Amaurosis 4:

Name: Leber Congenital Amaurosis 4 53 12 49 71 28 14 69
Lca4 53 12 49 71
Amaurosis Congenita of Leber, Type 4 49
Leber Congenital Amaurosis Type 4 49
Retinitis Pigmentosa, Juvenile 53
Retinitis Pigmentosa 69
Cone-Rod Dystrophy 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
keratoconus, which was observed in 1 family, might be secondary to eye rubbing due to lca


HPO:

31
leber congenital amaurosis 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Leber Congenital Amaurosis 4

OMIM : 53 Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis (LCA), whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Various intermediate phenotypes between LCA and retinitis pigmentosa are known and are sometimes described as 'early-onset severe rod-cone dystrophy' or 'early-onset retinal degeneration' (Booij et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000; for cone-rod dystrophy, see 120970. (604393)

MalaCards based summary : Leber Congenital Amaurosis 4, also known as lca4, is related to cone-rod dystrophy 2 and retinitis pigmentosa, and has symptoms including reduced visual acuity, nyctalopia 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/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include bone, retina and eye, and related phenotype is vision/eye.

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 : 71 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 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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 32.5 AIPL1 CRX GUCY2D RPE65 SCAPER UNC119
2 retinitis pigmentosa 29.6 AIPL1 CA4 CRX GUCY2D PDE6A RPE65
3 retinal degeneration 29.0 AIPL1 CRX GUCY2D RPE65
4 keratoconus 28.7 AIPL1 CRX GUCY2D RPE65
5 leber congenital amaurosis 28.5 AIPL1 CRX GUCY2D NUB1 PDE6A RPE65
6 cone-rod dystrophy, x-linked, 1 12.8
7 spondylometaphyseal dysplasia with cone-rod dystrophy 12.7
8 cone-rod dystrophy, x-linked, 3 12.7
9 cone-rod dystrophy 3 12.7
10 cone-rod dystrophy 6 12.7
11 cone-rod dystrophy 9 12.7
12 cone-rod dystrophy 7 12.7
13 cone-rod dystrophy 12 12.7
14 cone-rod dystrophy and hearing loss 12.7
15 cone-rod dystrophy 8 12.7
16 cone-rod dystrophy 5 12.6
17 cone-rod dystrophy 16 12.6
18 cone-rod dystrophy 18 12.6
19 cone-rod dystrophy 19 12.6
20 cone-rod dystrophy 20 12.6
21 cone-rod dystrophy 13 12.6
22 cone-rod dystrophy 10 12.6
23 cone-rod dystrophy 11 12.6
24 cone-rod dystrophy 15 12.6
25 cone-rod dystrophy 1 12.6
26 cone-rod dystrophy, x-linked, 2 12.6
27 cone-rod dystrophy 17 12.6
28 cone-rod dystrophy 21 12.5
29 jalili syndrome 12.3
30 cone dystrophy 3 11.9
31 newfoundland rod-cone dystrophy 11.8
32 hypotrichosis, congenital, with juvenile macular dystrophy 11.5
33 leber congenital amaurosis 14 11.3
34 spondylometaphyseal dysplasia, axial 11.3
35 cleft lip-retinopathy syndrome 11.2
36 alstrom syndrome 11.1
37 leber congenital amaurosis 1 11.1
38 bardet-biedl syndrome 1 11.1
39 blue cone monochromacy 11.1
40 leber congenital amaurosis 3 11.1
41 leber congenital amaurosis 10 11.1
42 cone dystrophy 4 11.1
43 bardet-biedl syndrome 11.1
44 retinitis pigmentosa 14 11.1
45 retinitis 10.7
46 amelogenesis imperfecta 10.5
47 stargardt disease 10.4
48 radin blood group antigen 10.3
49 ataxia and polyneuropathy, adult-onset 10.3
50 danon disease 10.2

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 via clinical synopsis from OMIM:

53
Head And Neck Eyes:
poor central vision or blindness from birth
keratoconus (in some patients)
night blindness, severe
pendular nystagmus
pigment clumping
more

Clinical features from OMIM:

604393

Human phenotypes related to Leber Congenital Amaurosis 4:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 nyctalopia 31 HP:0000662
3 keratoconus 31 occasional (7.5%) HP:0000563
4 optic disc pallor 31 HP:0000543
5 attenuation of retinal blood vessels 31 HP:0007843
6 pendular nystagmus 31 HP:0012043
7 macular atrophy 31 HP:0007401
8 cone/cone-rod dystrophy 31 HP:0000548
9 undetectable light- and dark-adapted electroretinogram 31 HP:0007688

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 4:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.17 AIPL1 BOC CRX GUCY2D PDE6A RPE65

Drugs & Therapeutics for Leber Congenital Amaurosis 4

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 4

Genetic Tests for Leber Congenital Amaurosis 4

Genetic tests related to Leber Congenital Amaurosis 4:

# Genetic test Affiliating Genes
1 Leber Congenital Amaurosis 4 28 AIPL1

Anatomical Context for Leber Congenital Amaurosis 4

MalaCards organs/tissues related to Leber Congenital Amaurosis 4:

38
Bone, Retina, Eye

Publications for Leber Congenital Amaurosis 4

Articles related to Leber Congenital Amaurosis 4:

(show top 50) (show all 1482)
# Title Authors Year
1
Nonclinical Safety Evaluation of scAAV8-<i>RLBP1</i>for Treatment of<i>RLBP1</i>Retinitis Pigmentosa. ( 29359172 )
2018
2
A novel mutation in<i>PRPF31</i>, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer. ( 29375987 )
2018
3
Improved retinal and visual function following panmacular subthreshold diode micropulse laser for retinitis pigmentosa. ( 29449615 )
2018
4
Quantification of Macular Microvascular Changes in Patients With Retinitis Pigmentosa Using Optical Coherence Tomography Angiography. ( 29365150 )
2018
5
Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa. ( 29345014 )
2018
6
Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi. ( 29377744 )
2018
7
Targeted Next-Generation Sequencing Reveals a Novel Frameshift Mutation in the MERTK Gene in a Chinese Family with Retinitis Pigmentosa. ( 29437494 )
2018
8
Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa. ( 29411010 )
2018
9
Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa. ( 29305715 )
2018
10
Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing. ( 29437900 )
2018
11
A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. ( 29192808 )
2018
12
highroad Is a Carboxypetidase Induced by Retinoids to Clear Mutant Rhodopsin-1 in Drosophila Retinitis Pigmentosa Models. ( 29425495 )
2018
13
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa. ( 29411205 )
2018
14
Rasagiline delays retinal degeneration in a mouse model of retinitis pigmentosa via modulation of Bax/Bcl-2 expression. ( 29372592 )
2018
15
Coping strategies, vision-related quality of life, and emotional health in managing retinitis pigmentosa: a survey study. ( 29378559 )
2018
16
Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa. ( 29188504 )
2018
17
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa. ( 29425069 )
2018
18
HIF-1I+ stabilization reduces retinal degeneration in a mouse model of retinitis pigmentosa. ( 29295858 )
2018
19
Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations. ( 28763560 )
2017
20
Subluxated intraocular lens secondary toA retinitis pigmentosa-associated zonulopathy: August consultation #1. ( 28917417 )
2017
21
Survival analysis of visual improvement after cataract surgery in advanced retinitis pigmentosa. ( 28776592 )
2017
22
Identification of a disease-causing mutation in a Chinese patient with retinitis pigmentosa by targeted next-generation sequencing. ( 28430325 )
2017
23
Risk Factors for Posterior Subcapsular Cataract in Retinitis Pigmentosa. ( 28492871 )
2017
24
KLHL7 promotes TUT1 ubiquitination associated with nucleolar integrity: Implications for retinitis pigmentosa. ( 29032201 )
2017
25
Retrospective Analysis of Structural Disease Progression in Retinitis Pigmentosa Utilizing Multimodal Imaging. ( 28871101 )
2017
26
Dark-Adapted Chromatic Perimetry for Measuring Rod Visual Fields in Patients with Retinitis Pigmentosa. ( 28798898 )
2017
27
Optical Coherence Tomography Angiography to Estimate Retinal Blood Flow in Eyes with Retinitis Pigmentosa. ( 28406171 )
2017
28
Improving graph-based OCT segmentation for severe pathology in Retinitis Pigmentosa patients. ( 28781413 )
2017
29
Posterior microphthalmos, retinitis pigmentosa and optic disc drusen with white dots. A case report. ( 28511857 )
2017
30
Protective effect of sulforaphane against retinal degeneration in the Pde6(rd10) mouse model of retinitis pigmentosa. ( 28937835 )
2017
31
Transcorneal electrical stimulation for the treatment of retinitis pigmentosa: results from the TESOLAUK trial. ( 29354722 )
2017
32
Absence of Sigma 1 Receptor Accelerates Photoreceptor Cell Death in a Murine Model of Retinitis Pigmentosa. ( 28877319 )
2017
33
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. ( 28763557 )
2017
34
Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention. ( 27913439 )
2017
35
Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa. ( 29111861 )
2017
36
Seeing through their eyes: lived experiences of people with retinitis pigmentosa. ( 28085147 )
2017
37
Four-year nationwide incidence of retinitis pigmentosa in South Korea: a population-based retrospective study from 2011 to 2014. ( 28490561 )
2017
38
Restoration of Cone Photoreceptor Function in Retinitis Pigmentosa. ( 28900578 )
2017
39
A Nine-Year Follow-Up of Macular Complications in Retinitis Pigmentosa and Diabetes Mellitus. ( 28419400 )
2017
40
Retinal pigmentary changes in chronic uveitis mimicking retinitis pigmentosa. ( 28523457 )
2017
41
Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data. ( 28290600 )
2017
42
Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser FLVCR1 mutation. ( 28766925 )
2017
43
Cystoid Macular Edema in Retinitis Pigmentosa with Intermediate Uveitis Responded Well to Oral and Posterior Subtenon Steroid. ( 28353369 )
2017
44
Retinitis Pigmentosa Sine Pigmento Mimicking a Chiasm Disease. ( 29344059 )
2017
45
Low dose clozapine controls adult-onset psychosis associated with the neurogenic ataxia-retinitis pigmentosa (NARP) mutation. ( 28003964 )
2017
46
The unusual association of inverse retinitis pigmentosa and Fuchs' heterochromic iridocyclitis. ( 28127443 )
2017
47
Bilateral blindness with secondary retinitis pigmentosa following postoperative docetaxel and platinum combination chemotherapy in primary small-cell carcinoma of the endometrium: An unusual case report and review of the literature. ( 28413652 )
2017
48
Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing. ( 29260190 )
2017
49
Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa. ( 28053051 )
2017
50
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement. ( 28192796 )
2017

Variations for Leber Congenital Amaurosis 4

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 AIPL1 NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro) single nucleotide variant Pathogenic rs62637010 GRCh37 Chromosome 17, 6330254: 6330254
2 AIPL1 NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn) single nucleotide variant Pathogenic rs62637011 GRCh37 Chromosome 17, 6330226: 6330226
3 AIPL1 NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser) single nucleotide variant Pathogenic/Likely pathogenic rs142326926 GRCh37 Chromosome 17, 6329935: 6329935
4 AIPL1 NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter) single nucleotide variant Pathogenic rs62637014 GRCh37 Chromosome 17, 6329101: 6329101
5 AIPL1 NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs) deletion Pathogenic rs62637016 GRCh37 Chromosome 17, 6328924: 6328925
6 AIPL1 NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg) single nucleotide variant Pathogenic rs62637012 GRCh37 Chromosome 17, 6330004: 6330004
7 UNC119 NM_005148.3(UNC119): c.169A> T (p.Lys57Ter) single nucleotide variant Pathogenic rs267607166 GRCh37 Chromosome 17, 26879407: 26879407
8 SCAPER NM_020843.2(SCAPER): c.2973_2976delCAAT (p.Ile991Metfs) deletion Pathogenic GRCh38 Chromosome 15, 76471314: 76471317

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:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 8.62 GUCY2D PDE6A

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.43 AIPL1 CRX GUCY2D PDE6A RPE65 UNC119
2 circadian rhythm GO:0007623 9.32 CRX RPE65
3 retina homeostasis GO:0001895 9.26 AIPL1 RPE65
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 GUCY2D PDE6A
5 visual perception GO:0007601 9.1 AIPL1 CRX GUCY2D PDE6A RPE65 UNC119

Sources for Leber Congenital Amaurosis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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