MCID: LBR014
MIFTS: 46

Leber Congenital Amaurosis 4 malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Aliases & Classifications for Leber Congenital Amaurosis 4

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Aliases & Descriptions for Leber Congenital Amaurosis 4:

Name: Leber Congenital Amaurosis 4 49 45 65 67
Leber Congenital Amaurosis Type 4 45 24
Lca4 45 67
Amaurosis Congenita of Leber, Type 4 45
 
Retinitis Pigmentosa, Juvenile 49
Retinitis Pigmentosa 65
Cone-Rod Dystrophy 49


Classifications:



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OMIM49 604393
MeSH36 D057130

Summaries for Leber Congenital Amaurosis 4

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OMIM:49 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 leber congenital amaurosis type 4, is related to cone-rod dystrophy x-linked 2 and cone-rod dystrophy, and has symptoms including keratoconus, autosomal recessive inheritance 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 are The phototransduction cascade and Visual Cycle in Retinal Rods. Affiliated tissues include retina and eye, and related mouse phenotypes are pigmentation and nervous system.

UniProtKB/Swiss-Prot:67 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 108)
idRelated DiseaseScoreTop Affiliating Genes
1cone-rod dystrophy x-linked 231.4RP1, RPGR
2cone-rod dystrophy11.4
3retinitis10.9
4spondylometaphyseal dysplasia with cone-rod dystrophy10.9
5cone-rod dystrophy, x-linked, 110.8
6cone-rod dystrophy 310.8
7jalili syndrome10.8
8cone-rod dystrophy 910.8
9cone-rod dystrophy 1610.8
10cone-rod dystrophy 510.8
11retinitis pigmentosa10.8
12cone-rod dystrophy 1210.7
13cone-rod dystrophy 710.7
14cone-rod dystrophy 1510.7
15cone-rod dystrophy 1310.7
16cone-rod dystrophy 1110.7
17cone-rod dystrophy 1010.7
18cone-rod dystrophy 610.7
19cone-rod dystropy, x-linked, 310.7
20cone-rod dystrophy 1810.7
21cone-rod dystrophy 1710.7
22cone-rod dystrophy 2010.7
23cone-rod dystrophy 1910.7
24amelogenesis imperfecta10.7
25cone-rod dystrophy 2110.6
26cone-rod dystrophy 810.6
27cone dystrophy-310.6
28cone-rod dystrophy 110.6
29stargardt disease10.5
30leber congenital amaurosis10.5
31cone-rod dystrophy 410.5
32prph2-related cone-rod dystrophy10.5
33unc119-related cone-rod dystrophy10.5
34ataxia10.5
35retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome10.4
36thiamine-responsive megaloblastic anemia syndrome10.4
37alstrom syndrome10.4
38cone dystrophy 410.4
39hypotrichosis, congenital, with juvenile macular dystrophy10.4
40danon disease10.4
41megaloblastic anemia10.4
42myopia10.4
43retinal degeneration10.4
44leber congenital amaurosis 1410.3
45aipl1-related retinitis pigmentosa10.3AIPL1, RPE65
46autosomal recessive congenital methemoglobinemia10.3PDE6B, RHO
47juvenile dermatitis herpetiformis10.2CRB1, RHO
48nephronophthisis 410.2
49retinitis pigmentosa 3510.2
50bardet-biedl syndrome 1710.2

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 10)
id Description Frequency HPO Source Accession
1 keratoconus rare (5%) HP:0000563
2 autosomal recessive inheritance HP:0000007
3 optic disc pallor HP:0000543
4 cone/cone-rod dystrophy HP:0000548
5 nyctalopia HP:0000662
6 macular atrophy HP:0007401
7 reduced visual acuity HP:0007663
8 undetectable light- and dark-adapted electroretinogram HP:0007688
9 attenuation of retinal blood vessels HP:0007843
10 pendular nystagmus HP:0012043

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
2Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsActive, not recruitingNCT00481546Phase 1
3Safety 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 424

Anatomical Context for Leber Congenital Amaurosis 4

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MalaCards organs/tissues related to Leber Congenital Amaurosis 4:

33
Retina, Eye

Animal Models for Leber Congenital Amaurosis 4 or affiliated genes

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MGI Mouse Phenotypes related to Leber Congenital Amaurosis 4:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.5ABCA4, BEST1, CRB1, CRX, PDE6B, RHO
2MP:00036316.7ABCA4, AIPL1, CRB1, CRX, PANK2, PDE6B
3MP:00053916.3ABCA4, AIPL1, BEST1, CRB1, CRX, PANK2

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:

67
id Symbol AA change Variation ID SNP ID
1AIPL1p.Cys239ArgVAR_010139
2AIPL1p.Arg270HisVAR_067165

Clinvar genetic disease variations for Leber Congenital Amaurosis 4:

5 (show all 54)
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 variantPathogenicrs527236088GRCh37Chr 4, 654392: 654392
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 variantPathogenicrs527236092GRCh37Chr 17, 74536225: 74536225
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
25RDH12NM_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
30RPGRNM_001034853.1(RPGR): c.2426_2427delAG (p.Glu809Glyfs)deletionPathogenicrs730882261GRCh37Chr X, 38145825: 38145826
31ABCA4NM_000350.2(ABCA4): c.2927delT (p.Leu976Argfs)deletionPathogenicGRCh38Chr 1, 94044736: 94044736
32PDE6BNM_000283.3(PDE6B): c.1060-1G> Tsingle nucleotide variantPathogenicGRCh37Chr 4, 650033: 650033
33RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)single nucleotide variantPathogenicGRCh37Chr 8, 55534740: 55534740
34IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)single nucleotide variantPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
35CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)single nucleotide variantPathogenicGRCh37Chr 1, 197398685: 197398685
36CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicGRCh38Chr 1, 197421287: 197421287
37PANK2NM_024960.4(PANK2): c.419T> C (p.Phe140Ser)single nucleotide variantPathogenicGRCh38Chr 20, 3912514: 3912514
38C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)single nucleotide variantPathogenicGRCh37Chr 2, 29296416: 29296416
39RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
40USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
41USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
42USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
43USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
44AIPL1NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter)single nucleotide variantPathogenicrs62637014GRCh37Chr 17, 6329101: 6329101
45AIPL1NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs)deletionPathogenicrs62637016GRCh37Chr 17, 6328924: 6328925
46AIPL1NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg)single nucleotide variantPathogenicrs62637012GRCh37Chr 17, 6330004: 6330004
47AIPL1NM_014336.4(AIPL1): c.1126C> T (p.Pro376Ser)single nucleotide variantPathogenicrs61757484GRCh37Chr 17, 6328809: 6328809
48AIPL1NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro)single nucleotide variantPathogenicrs62637010GRCh37Chr 17, 6330254: 6330254
49AIPL1NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn)single nucleotide variantPathogenicrs62637011GRCh37Chr 17, 6330226: 6330226
50AIPL1NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser)single nucleotide variantPathogenicrs142326926GRCh37Chr 17, 6329935: 6329935
51AIPL1NM_014336.4(AIPL1): c.905G> T (p.Arg302Leu)single nucleotide variantPathogenicrs62637015GRCh37Chr 17, 6329030: 6329030
52TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
53PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
54RPE65NM_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 inner segment membraneGO:006034210.5RDH12, RHO
2photoreceptor outer segment membraneGO:004262210.3RHO, ROM1
3photoreceptor disc membraneGO:009738110.1ABCA4, PDE6B, RHO
4ciliumGO:00059299.9RP1, RPGR, TULP1
5ciliary basal bodyGO:00360649.8RPGR, TOPORS, USH2A
6photoreceptor connecting ciliumGO:00323919.7RP1, RPGR, TOPORS, USH2A
7photoreceptor inner segmentGO:00019179.6AIPL1, RHO, RP1, TULP1, USH2A
8photoreceptor outer segmentGO:00017508.8ABCA4, C2orf71, PDE6B, RHO, ROM1, 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
2photoreceptor cell outer segment organizationGO:003584510.5RP1, TOPORS
3retinal rod cell developmentGO:004654810.5RP1, TOPORS
4retinal cone cell developmentGO:004654910.5RP1, TOPORS
5cellular response to light stimulusGO:007148210.4RHO, RP1, RPGR
6retina morphogenesis in camera-type eyeGO:006004210.3ROM1, RP1, RPE65, RPGR
7eye photoreceptor cell developmentGO:004246210.2CRB1, RPGR, TULP1
8retinol metabolic processGO:004257210.1RDH12, RPE65
9sensory perception of light stimulusGO:005095310.0RHO, USH2A
10retina homeostasisGO:00018959.9AIPL1, RPE65, TULP1
11response to stimulusGO:00508969.8C2orf71, CRX, USH2A
12detection of light stimulus involved in visual perceptionGO:00509089.7BEST1, EYS, RPE65, TULP1
13retinoid metabolic processGO:00015239.6ABCA4, RDH12, RHO, RPE65
14retina development in camera-type eyeGO:00600419.4CRX, PDE6B, RHO, RP1, RPE65, TULP1
15photoreceptor cell maintenanceGO:00454949.2ABCA4, RDH12, RHO, RP1, TULP1, USH2A
16phototransduction, visible lightGO:00076038.9ABCA4, AIPL1, PDE6B, RDH12, RHO, RP1
17visual perceptionGO:00076016.3ABCA4, AIPL1, BEST1, C2orf71, CRX, IMPG2

Sources for Leber Congenital Amaurosis 4

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet