MCID: LBR014
MIFTS: 47

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 51 11 47 69 67
Lca4 11 47 69
Leber Congenital Amaurosis Type 4 47 26
Amaurosis Congenita of Leber, Type 4 47
 
Retinitis Pigmentosa, Juvenile 51
Retinitis Pigmentosa 67
Cone-Rod Dystrophy 51

Characteristics:

HPO:

63
leber congenital amaurosis 4:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 604393
Disease Ontology11 DOID:0110332
ICD1029 H35.5
MeSH38 D057130

Summaries for Leber Congenital Amaurosis 4

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OMIM:51 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 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), and among its related pathways are Phototransduction and Visual Cycle in Retinal Rods. 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:69 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 101)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis30.6AIPL1, 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, x-linked, 112.5
8cone-rod dystrophy 1612.5
9cone-rod dystrophy 512.5
10cone-rod dystrophy 2012.5
11cone-rod dystrophy 1212.5
12cone-rod dystrophy 1512.5
13cone-rod dystrophy 1312.5
14cone-rod dystrophy 1112.5
15cone-rod dystrophy 1812.4
16cone-rod dystrophy 1912.4
17cone-rod dystrophy 1012.4
18cone-rod dystrophy 612.4
19cone-rod dystrophy 2112.4
20cone-rod dystrophy 812.2
21cone-rod dystrophy 1712.2
22cone-rod dystrophy 112.2
23jalili syndrome12.2
24cone-rod dystrophy x-linked 212.1
25cone-rod dystrophy 412.1
26cone-rod dystrophy, aipl1-related12.1
27cone-rod dystrophy, prph2-related12.1
28cone-rod dystrophy, unc119-related12.1
29cone-rod dystropy, x-linked, 312.0
30cone dystrophy-311.9
31retinitis pigmentosa11.5
32leber congenital amaurosis 1411.2
33hypotrichosis, congenital, with juvenile macular dystrophy11.1
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
41retinitis10.7
42macular dystrophy, patterned, 110.7PRPH2, ROM1
43unilateral absence of a pulmonary artery10.7RP1, RPGR
44autosomal recessive congenital stationary night blindness10.6PDE6B, RHO
45fundus pulverulentus10.6PRPH2, ROM1
46natural killer cell and glucocorticoid deficiency with dna repair defect10.5PRPH2, RHO, RP1
47choroidal sclerosis10.5AIPL1, PRPH2, UNC119
48combined oxidative phosphorylation deficiency 310.5PDE6B, PRPH2, RHO
49refractive error10.5AIPL1, PRPH2, UNC119
50branchiootorenal spectrum disorders10.5BEST1, ROM1

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

Human phenotypes related to Leber Congenital Amaurosis 4:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 keratoconus63 rare (5%) HP:0000563
2 optic disc pallor63 HP:0000543
3 cone/cone-rod dystrophy63 HP:0000548
4 nyctalopia63 HP:0000662
5 macular atrophy63 HP:0007401
6 reduced visual acuity63 HP:0007663
7 undetectable light- and dark-adapted electroretinogram63 HP:0007688
8 attenuation of retinal blood vessels63 HP:0007843
9 pendular nystagmus63 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
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 426

Anatomical Context for Leber Congenital Amaurosis 4

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MalaCards organs/tissues related to Leber Congenital Amaurosis 4:

35
Retina, Bone, Eye

Animal Models for Leber Congenital Amaurosis 4 or affiliated genes

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MGI Mouse Phenotypes related to Leber Congenital Amaurosis 4:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.5ABCA4, BEST1, C2orf71, CRB1, CRX, PDE6B
2MP:00036317.8ABCA4, AIPL1, C2orf71, CRB1, CRX, PDE6B
3MP:00053916.5ABCA4, 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:

69
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 59)
id Gene Variation Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)SNVPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)SNVPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)SNVPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)SNVPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5PDE6BNM_000283.3(PDE6B): c.1467+1G> CSNVPathogenicrs527236089GRCh37Chr 4, 652807: 652807
6PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)SNVPathogenicrs527236088GRCh37Chr 4, 654392: 654392
7PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)SNVPathogenicrs527236097GRCh37Chr 6, 42689663: 42689663
8PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)SNVPathogenicrs527236098GRCh37Chr 6, 42689574: 42689574
9ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicrs527236104GRCh38Chr 11, 62613612: 62613612
10RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)SNVPathogenicrs527236103GRCh37Chr 3, 129249877: 129249877
11RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)SNVPathogenicrs527236100GRCh37Chr 3, 129251125: 129251125
12CRXNM_000554.5(CRX): c.193G> C (p.Asp65His)SNVPathogenicrs527236062GRCh38Chr 19, 47836335: 47836335
13PRCDNM_001077620.2(PRCD): c.2T> C (p.Met1Thr)SNVPathogenicrs527236092GRCh37Chr 17, 74536225: 74536225
14EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicrs527236065GRCh38Chr 6, 64590910: 64590910
15EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)SNVPathogenicrs527236068GRCh37Chr 6, 64791763: 64791763
16EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)SNVPathogenicrs527236064GRCh37Chr 6, 64488004: 64488004
17EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)SNVPathogenicrs527236066GRCh37Chr 6, 64472506: 64472506
18EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)SNVPathogenicrs527236067GRCh37Chr 6, 64431122: 64431122
19EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)SNVPathogenicrs183589498GRCh37Chr 6, 64430718: 64430718
20BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)SNVPathogenicrs372989281GRCh38Chr 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)SNVPathogenicrs527236113GRCh37Chr 2, 96958828: 96958828
23SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)SNVPathogenicrs527236114GRCh37Chr 2, 96958823: 96958823
24IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)SNVPathogenicrs199867882GRCh37Chr 3, 100949961: 100949961
25RDH12NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicrs527236099GRCh37Chr 14, 68196025: 68196025
26USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)SNVPathogenicrs527236119GRCh37Chr 1, 215956121: 215956121
27USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)SNVPathogenicrs527236122GRCh37Chr 1, 215807865: 215807865
28USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)SNVPathogenicrs201527662GRCh37Chr 1, 216419934: 216419934
29USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)SNVPathogenicrs527236118GRCh37Chr 1, 215972456: 215972456
30PDE6BNM_000283.3(PDE6B): c.2193+1G> ASNVPathogenicrs727504075GRCh37Chr 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> TSNVPathogenicrs863223339GRCh37Chr 4, 650033: 650033
34RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)SNVPathogenicrs863223340GRCh37Chr 8, 55534740: 55534740
35IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)SNVPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
36CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)SNVPathogenicrs863223341GRCh37Chr 1, 197398685: 197398685
37CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicrs863223342GRCh38Chr 1, 197421287: 197421287
38PANK2NM_024960.5(PANK2): c.419T> C (p.Phe140Ser)SNVPathogenicrs863223343GRCh38Chr 20, 3912514: 3912514
39C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)SNVPathogenicrs863223344GRCh37Chr 2, 29296416: 29296416
40RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)SNVPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
41PDE6BNM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter)SNVLikely 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)SNVLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
44USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)SNVPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
45RCBTB1NM_018191.3(RCBTB1): c.919G> A (p.Val307Met)SNVLikely pathogenic, Pathogenicrs368217569GRCh37Chr 13, 50123720: 50123720
46RCBTB1NM_018191.3(RCBTB1): c.930G> T (p.Trp310Cys)SNVLikely pathogenic, Pathogenicrs772592456GRCh37Chr 13, 50123709: 50123709
47RCBTB1NM_018191.3(RCBTB1): c.973C> T (p.His325Tyr)SNVLikely pathogenic, Pathogenicrs200826424GRCh37Chr 13, 50123666: 50123666
48RCBTB1NM_018191.3(RCBTB1): c.1164G> T (p.Leu388Phe)SNVLikely pathogenic, Pathogenicrs879255547GRCh37Chr 13, 50118881: 50118881
49USH2ANM_206933.2(USH2A): c.8559-2A> GSNVPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
50AIPL1NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter)SNVPathogenicrs62637014GRCh37Chr 17, 6329101: 6329101
51AIPL1NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs)deletionPathogenicrs62637016GRCh37Chr 17, 6328924: 6328925
52AIPL1NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg)SNVPathogenicrs62637012GRCh37Chr 17, 6330004: 6330004
53UNC119NM_005148.3(UNC119): c.169A> T (p.Lys57Ter)SNVPathogenicrs267607166GRCh37Chr 17, 26879407: 26879407
54AIPL1NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro)SNVPathogenicrs62637010GRCh37Chr 17, 6330254: 6330254
55AIPL1NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn)SNVPathogenicrs62637011GRCh37Chr 17, 6330226: 6330226
56AIPL1NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser)SNVLikely pathogenic, Pathogenicrs142326926GRCh37Chr 17, 6329935: 6329935
57TULP1NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser)SNVPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
58PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)SNVPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
59RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)SNVPathogenicrs61751281GRCh37Chr 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 inner segment membraneGO:006034210.5RDH12, RHO
2photoreceptor disc membraneGO:009738110.3ABCA4, PDE6B, RHO
3photoreceptor outer segment membraneGO:004262210.2RHO, ROM1
4photoreceptor connecting ciliumGO:003239110.1RP1, TOPORS, USH2A
5ciliary basal bodyGO:00360649.9RPGR, TOPORS, USH2A
6photoreceptor inner segmentGO:00019179.2AIPL1, C2orf71, RHO, RP1, TULP1, USH2A
7photoreceptor outer segmentGO:00017509.1ABCA4, C2orf71, PRPH2, RHO, RP1, RPGR

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:000958310.7PDE6B, RHO
2retinal rod cell developmentGO:004654810.5RP1, TOPORS
3rhodopsin mediated signaling pathwayGO:001605610.5PDE6B, RHO
4sensory perception of light stimulusGO:005095310.5RHO, USH2A
5regulation of rhodopsin mediated signaling pathwayGO:002240010.5PDE6B, RHO
6phototransductionGO:000760210.5RHO, UNC119
7protein localization to photoreceptor outer segmentGO:190354610.5C2orf71, TULP1
8detection of light stimulus involved in visual perceptionGO:005090810.4BEST1, TULP1
9eye photoreceptor cell developmentGO:004246210.3CRB1, TULP1
10photoreceptor cell outer segment organizationGO:003584510.2C2orf71, RP1, TOPORS
11retinal cone cell developmentGO:004654910.2RP1, TOPORS
12phototransduction, visible lightGO:000760310.0ABCA4, AIPL1, PDE6B, RHO, RP1
13retinoid metabolic processGO:00015239.9ABCA4, RDH12, RHO
14retina development in camera-type eyeGO:00600419.6PDE6B, PRPH2, RHO, RP1, TULP1
15photoreceptor cell maintenanceGO:00454949.0ABCA4, RDH12, RHO, RP1, TULP1, USH2A
16response to stimulusGO:00508968.8C2orf71, CRX, PRCD, RDH12, RPGR, USH2A
17visual perceptionGO:00076015.9ABCA4, AIPL1, BEST1, C2orf71, CRX, IMPG2

Sources for Leber Congenital Amaurosis 4

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet