MCID: LBR014
MIFTS: 41

Leber Congenital Amaurosis 4 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 50 68 25 66
Retinitis Pigmentosa, Juvenile 50
Retinitis Pigmentosa 66
 
Cone-Rod Dystrophy 50
Lca4 68

Characteristics:

HPO:

62
leber congenital amaurosis 4:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 604393
MeSH37 D057130

Summaries for Leber Congenital Amaurosis 4

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OMIM:50 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 retinitis pigmentosa, juvenile, is related to leber congenital amaurosis and cone-rod dystrophy, and has symptoms including keratoconus, optic disc pallor and cone/cone-rod dystrophy. An important gene associated with Leber Congenital Amaurosis 4 is AIPL1 (Aryl Hydrocarbon Receptor Interacting Protein Like 1). Affiliated tissues include retina, and related mouse phenotypes are cardiovascular system and pigmentation.

UniProtKB/Swiss-Prot:68 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 88)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis30.9AIPL1, CRB1, CRX
2cone-rod dystrophy12.8
3spondylometaphyseal dysplasia with cone-rod dystrophy12.6
4cone-rod dystrophy 312.6
5cone-rod dystrophy 912.6
6cone-rod dystrophy 712.6
7cone-rod dystrophy 512.5
8cone-rod dystrophy, x-linked, 112.5
9cone-rod dystrophy 1612.5
10cone-rod dystrophy 1212.5
11cone-rod dystrophy 1512.5
12cone-rod dystrophy 1312.5
13cone-rod dystrophy 1112.5
14cone-rod dystrophy 1012.5
15cone-rod dystrophy 612.5
16cone-rod dystrophy 1812.5
17cone-rod dystrophy 2012.5
18cone-rod dystrophy 1912.5
19cone-rod dystrophy 2112.4
20cone-rod dystrophy 812.3
21cone-rod dystrophy 1712.3
22cone-rod dystrophy 112.3
23cone-rod dystrophy x-linked 212.3
24cone-rod dystrophy 412.2
25prph2-related cone-rod dystrophy12.2
26unc119-related cone-rod dystrophy12.2
27jalili syndrome12.2
28cone-rod dystropy, x-linked, 311.9
29cone dystrophy-311.7
30retinitis pigmentosa11.6
31leber congenital amaurosis 1411.3
32hypotrichosis, congenital, with juvenile macular dystrophy11.2
33retinitis pigmentosa 1411.0
34retinal dystrophy, juvenile cataracts, and short stature syndrome11.0
35leber congenital amaurosis 311.0
36retinitis10.8
37unilateral absence of a pulmonary artery10.8RP1, RPGR
38macular dystrophy, patterned, 110.8PRPH2, ROM1
39fundus pulverulentus10.6PRPH2, ROM1
40autosomal recessive congenital stationary night blindness10.6PDE6B, RHO
41muscular dystrophy-dystroglycanopathy , type b, 510.6CRX, RPGR
42rpgr-related retinitis pigmentosa10.6AIPL1, CRX
43choroidal sclerosis10.6AIPL1, PRPH2, UNC119
44refractive error10.6AIPL1, PRPH2, UNC119
45natural killer cell and glucocorticoid deficiency with dna repair defect10.5PRPH2, RHO, RP1
46amelogenesis imperfecta10.5
47combined oxidative phosphorylation deficiency 310.5PDE6B, PRPH2, RHO
48stargardt disease10.4
49bullous skin disease10.4CRB1, RHO
50methylmalonic aciduria, mut(0) type10.4BEST1, PRPH2

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



Diseases related to leber congenital amaurosis 4

Symptoms for Leber Congenital Amaurosis 4

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Symptoms by clinical synopsis from OMIM:

604393

Clinical features from OMIM:

604393

HPO human phenotypes related to Leber Congenital Amaurosis 4:

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

UMLS symptoms related to Leber Congenital Amaurosis 4:


pigmented retinopathy nos

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

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 425

Anatomical Context for Leber Congenital Amaurosis 4

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MalaCards organs/tissues related to Leber Congenital Amaurosis 4:

34
Retina

Animal Models for Leber Congenital Amaurosis 4 or affiliated genes

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MGI Mouse Phenotypes related to Leber Congenital Amaurosis 4:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1ABCA4, CRX, IFT140, PDE6B, PRPH2, RHO
2MP:00011867.8ABCA4, BEST1, C2orf71, CRB1, CRX, PDE6B
3MP:00036316.2ABCA4, AIPL1, C2orf71, CRB1, CRX, IFT140
4MP:00053915.4ABCA4, AIPL1, BEST1, C2orf71, CRB1, CRX

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:

68
id Symbol AA change Variation ID SNP ID
1AIPL1p.Cys239ArgVAR_010139rs62637012
2AIPL1p.Arg270HisVAR_067165

Clinvar genetic disease variations for Leber Congenital Amaurosis 4:

5 (show all 56)
id Gene Variation Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5PDE6BNM_000283.3(PDE6B): c.1467+1G> Csingle nucleotide variantPathogenicrs527236089GRCh37Chr 4, 652807: 652807
6PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)single nucleotide variantPathogenicrs527236088GRCh38Chr 4, 660603: 660603
7PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicrs527236097GRCh37Chr 6, 42689663: 42689663
8PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)single nucleotide variantPathogenicrs527236098GRCh37Chr 6, 42689574: 42689574
9ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicrs527236104GRCh38Chr 11, 62613612: 62613612
10RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)single nucleotide variantPathogenicrs527236103GRCh37Chr 3, 129249877: 129249877
11RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)single nucleotide variantPathogenicrs527236100GRCh37Chr 3, 129251125: 129251125
12CRXNM_000554.4(CRX): c.193G> C (p.Asp65His)single nucleotide variantPathogenicrs527236062GRCh38Chr 19, 47836335: 47836335
13NM_001077620.2(PRCD): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs527236092GRCh38Chr 17, 76540143: 76540143
14EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicrs527236065GRCh38Chr 6, 64590910: 64590910
15EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)single nucleotide variantPathogenicrs527236068GRCh37Chr 6, 64791763: 64791763
16EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)single nucleotide variantPathogenicrs527236064GRCh37Chr 6, 64488004: 64488004
17EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)single nucleotide variantPathogenicrs527236066GRCh37Chr 6, 64472506: 64472506
18EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)single nucleotide variantPathogenicrs527236067GRCh37Chr 6, 64431122: 64431122
19EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)single nucleotide variantPathogenicrs183589498GRCh37Chr 6, 64430718: 64430718
20BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)single nucleotide variantPathogenicrs372989281GRCh38Chr 11, 61958194: 61958194
21TOPORSNM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs)deletionPathogenicrs527236116GRCh37Chr 9, 32541966: 32541969
22SNRNP200NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His)single nucleotide variantPathogenicrs527236113GRCh37Chr 2, 96958828: 96958828
23SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)single nucleotide variantPathogenicrs527236114GRCh37Chr 2, 96958823: 96958823
24IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)single nucleotide variantPathogenicrs199867882GRCh37Chr 3, 100949961: 100949961
25NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicrs527236099GRCh37Chr 14, 68196025: 68196025
26USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)single nucleotide variantPathogenicrs527236119GRCh37Chr 1, 215956121: 215956121
27USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)single nucleotide variantPathogenicrs527236122GRCh37Chr 1, 215807865: 215807865
28USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)single nucleotide variantPathogenicrs201527662GRCh37Chr 1, 216419934: 216419934
29USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)single nucleotide variantPathogenicrs527236118GRCh37Chr 1, 215972456: 215972456
30PDE6BNM_000283.3(PDE6B): c.2193+1G> Asingle nucleotide variantPathogenicrs727504075GRCh37Chr 4, 658734: 658734
31RPGRNM_001034853.1(RPGR): c.2426_2427delAG (p.Glu809Glyfs)deletionPathogenicrs730882261GRCh37Chr X, 38145825: 38145826
32ABCA4NM_000350.2(ABCA4): c.2927delT (p.Leu976Argfs)deletionPathogenicrs863223338GRCh38Chr 1, 94044736: 94044736
33PDE6BNM_000283.3(PDE6B): c.1060-1G> Tsingle nucleotide variantPathogenicrs863223339GRCh37Chr 4, 650033: 650033
34RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)single nucleotide variantPathogenicrs863223340GRCh37Chr 8, 55534740: 55534740
35IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)single nucleotide variantPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
36CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)single nucleotide variantPathogenicrs863223341GRCh37Chr 1, 197398685: 197398685
37CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicrs863223342GRCh38Chr 1, 197421287: 197421287
38PANK2NM_024960.5(PANK2): c.419T> C (p.Phe140Ser)single nucleotide variantPathogenicrs863223343GRCh38Chr 20, 3912514: 3912514
39C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)single nucleotide variantPathogenicrs863223344GRCh37Chr 2, 29296416: 29296416
40NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
41PDE6BNM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter)single nucleotide variantLikely pathogenic, Pathogenicrs876657718GRCh37Chr 4, 619706: 619706
42USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
43USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
44USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
45ACACBNM_001093.3(ACACB): c.4967G> C (p.Gly1656Ala)single nucleotide variantPathogenicrs878855330GRCh38Chr 12, 109241226: 109241226
46USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
47AIPL1NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter)single nucleotide variantPathogenicrs62637014GRCh37Chr 17, 6329101: 6329101
48AIPL1NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs)deletionPathogenicrs62637016GRCh37Chr 17, 6328924: 6328925
49AIPL1NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg)single nucleotide variantPathogenicrs62637012GRCh37Chr 17, 6330004: 6330004
50UNC119NM_005148.3(UNC119): c.169A> T (p.Lys57Ter)single nucleotide variantPathogenicrs267607166GRCh37Chr 17, 26879407: 26879407
51AIPL1NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro)single nucleotide variantPathogenicrs62637010GRCh37Chr 17, 6330254: 6330254
52AIPL1NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn)single nucleotide variantPathogenicrs62637011GRCh37Chr 17, 6330226: 6330226
53AIPL1NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser)single nucleotide variantPathogenicrs142326926GRCh37Chr 17, 6329935: 6329935
54TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
55PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
56RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520

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 disc membraneGO:009738110.1ABCA4, PDE6B, RHO
2photoreceptor outer segment membraneGO:004262210.1RHO, ROM1
3photoreceptor connecting ciliumGO:00323919.7IFT140, RP1, TOPORS, USH2A
4primary ciliumGO:00723729.7C2orf71, IFT140, RPGR
5ciliary basal bodyGO:00360649.4IFT140, RPGR, TOPORS, USH2A
6photoreceptor inner segmentGO:00019179.0AIPL1, C2orf71, RHO, RP1, TULP1, USH2A
7photoreceptor outer segmentGO:00017508.5ABCA4, C2orf71, IFT140, PRPH2, RHO, RP1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1detection of light stimulusGO:000958310.6PDE6B, RHO
2retinal cone cell developmentGO:004654910.5RP1, TOPORS
3retinal rod cell developmentGO:004654810.5RP1, TOPORS
4protein localization to photoreceptor outer segmentGO:190354610.4C2orf71, TULP1
5rhodopsin mediated signaling pathwayGO:001605610.4PDE6B, RHO
6regulation of rhodopsin mediated signaling pathwayGO:002240010.4PDE6B, RHO
7sensory perception of light stimulusGO:005095310.4RHO, USH2A
8intraciliary transportGO:004207310.4IFT140, RPGR
9phototransductionGO:000760210.3RHO, UNC119
10eye photoreceptor cell developmentGO:004246210.2CRB1, TULP1
11phototransduction, visible lightGO:00076039.8ABCA4, AIPL1, PDE6B, RHO, RP1
12detection of light stimulus involved in visual perceptionGO:00509089.8BEST1, EYS, TULP1
13photoreceptor cell outer segment organizationGO:00358459.7C2orf71, IFT140, RP1, TOPORS
14response to stimulusGO:00508969.6C2orf71, CRX, RPGR, USH2A
15retina development in camera-type eyeGO:00600418.9IFT140, PDE6B, PRPH2, RHO, RP1, TULP1
16photoreceptor cell maintenanceGO:00454948.8ABCA4, RHO, RP1, TULP1, USH2A
17visual perceptionGO:00076016.6ABCA4, AIPL1, BEST1, C2orf71, CRX, PDE6B

Sources for Leber Congenital Amaurosis 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet