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 46 42 61
Leber Congenital Amaurosis Type 4 42 22
Amaurosis Congenita of Leber, Type 4 42
Retinitis Pigmentosa, Juvenile 46
Retinitis Pigmentosa 61
Cone-Rod Dystrophy 46
Lca4 42


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OMIM46 604393

Summaries for Leber Congenital Amaurosis 4

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OMIM:46 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 retinitis 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 Vitamin A and carotenoid metabolism and the visual cycle I (vertebrates). The compounds retinoid and 11-cis-retinol have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and pigmentation.

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 Gucy2d-Related Leber Congenital Amaurosis
Rpe65-Related Leber Congenital Amaurosis Rdh12-Related Leber Congenital Amaurosis
Aipl1-Related Leber Congenital Amaurosis Lca5-Related Leber Congenital Amaurosis
Rpgrip1-Related Leber Congenital Amaurosis Crb1-Related Leber Congenital Amaurosis
Crx-Related Leber Congenital Amaurosis Nmnat1-Related Leber Congenital Amaurosis
Cep290-Related Leber Congenital Amaurosis Impdh1-Related Leber Congenital Amaurosis
Rd3-Related Leber Congenital Amaurosis Spata7-Related Leber Congenital Amaurosis
Tulp1-Related Leber Congenital Amaurosis Lrat-Related Leber Congenital Amaurosis
Kcnj13-Related Leber Congenital Amaurosis Iqcb1-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 72)
idRelated DiseaseScoreTop Affiliating Genes
2cone-rod dystrophy31.6AIPL1, TULP1, PRPH2, RPE65, CRX, RHO
3stargardt disease31.2RHO, CRX
4leber congenital amaurosis30.4AIPL1, TULP1, RPE65, CRX, RHO, RDH12
5retinal degeneration28.6AIPL1, TULP1, USH2A, PRPH2, PRCD, BEST1
6spondylometaphyseal dysplasia with cone-rod dystrophy10.9
7cone-rod dystrophy 310.8
8cone-rod dystrophy, x-linked, 110.8
9jalili syndrome10.8
10retinitis pigmentosa10.8
11cone-rod dystrophy 910.7
12cone-rod dystrophy 610.7
13cone-rod dystrophy 1210.7
14cone-rod dystrophy 1610.7
15cone-rod dystrophy 510.7
16cone-rod dystrophy 1110.7
17cone-rod dystrophy 710.7
18cone-rod dystrophy 1510.7
19cone-rod dystrophy 1310.7
20amelogenesis imperfecta10.7
21cone-rod dystrophy 1010.6
22cone-rod dystrophy 1710.6
23cone-rod dystrophy 810.6
24cone-rod dystropy, x-linked, 310.6
25cone-rod dystrophy 110.6
26cone-rod dystrophy x-linked 210.6
27cone-rod dystrophy 1810.5
28cone-rod dystrophy 2010.5
29cone-rod dystrophy 1910.5
30cone dystrophy-310.5
31unc119-related cone-rod dystrophy10.5
32prph2-related cone-rod dystrophy10.5
33cone-rod dystrophy 410.5
35thiamine-responsive megaloblastic anemia syndrome10.4
36alstrom syndrome10.4
37danon disease10.4
38megaloblastic anemia10.4
40best vitelliform macular dystrophy10.3BEST1
41stargardt disease 110.3ROM1
42nephronophthisis 410.3
43retinitis pigmentosa 3510.3
44bardet-biedl syndrome 110.3
45leber congenital amaurosis 310.3
46retinitis pigmentosa 310.3
47neurofibromatosis, type 110.3

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:


Clinical features from OMIM:


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 autosomal recessive inheritance HP:0000007
3 optic disc pallor HP:0000543
4 night blindness HP:0000662
5 noninflammatory macular atrophy HP:0007401
6 decreased central vision HP:0007663
7 absent rod-and cone-mediated responses on erg HP:0007688
8 attenuation of retinal blood vessels HP:0007843
9 pendular nystagmus HP:0012043

Drugs & Therapeutics for Leber Congenital Amaurosis 4

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Drug clinical trials:

Search ClinicalTrials for Leber Congenital Amaurosis 4

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 422

Anatomical Context for Leber Congenital Amaurosis 4

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Animal Models for Leber Congenital Amaurosis 4 or affiliated genes

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MGI Mouse Phenotypes related to Leber Congenital Amaurosis 4:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.4PRPH2, ROM1, PDE6B, CRX, RHO, TULP1
2MP:00011867.9TULP1, PRPH2, BEST1, RPE65, PDE6B, CRX
3MP:00036316.5AIPL1, TULP1, USH2A, PRPH2, RPE65, ROM1
4MP:00053916.4RDH12, AIPL1, TULP1, USH2A, PRPH2, BEST1

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:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Leber Congenital Amaurosis 4:

5 (show all 44)
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.1604T> A (p.Ile535Asn)single nucleotide variantPathogenicGRCh37Chr 4, 654392: 654392
6PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicGRCh37Chr 6, 42689663: 42689663
7PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)single nucleotide variantPathogenicGRCh37Chr 6, 42689574: 42689574
8ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicGRCh38Chr 11, 62613612: 62613612
9RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)single nucleotide variantPathogenicGRCh37Chr 3, 129249877: 129249877
10RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)single nucleotide variantPathogenicGRCh37Chr 3, 129251125: 129251125
11CRXNM_000554.4(CRX): c.193G> C (p.Asp65His)single nucleotide variantPathogenicGRCh38Chr 19, 47836335: 47836335
12PRCDNM_001077620.2(PRCD): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicGRCh37Chr 17, 74536225: 74536225
13EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicGRCh38Chr 6, 64590910: 64590910
14EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)single nucleotide variantPathogenicGRCh37Chr 6, 64791763: 64791763
15EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)single nucleotide variantPathogenicGRCh37Chr 6, 64488004: 64488004
16EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)single nucleotide variantPathogenicGRCh37Chr 6, 64472506: 64472506
17EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)single nucleotide variantPathogenicGRCh37Chr 6, 64431122: 64431122
18EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)single nucleotide variantPathogenicGRCh37Chr 6, 64430718: 64430718
19BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)single nucleotide variantPathogenicGRCh38Chr 11, 61958194: 61958194
20TOPORSNM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs)deletionPathogenicGRCh37Chr 9, 32541966: 32541969
21SNRNP200NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His)single nucleotide variantPathogenicGRCh37Chr 2, 96958828: 96958828
22SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)single nucleotide variantPathogenicGRCh37Chr 2, 96958823: 96958823
23IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)single nucleotide variantPathogenicGRCh37Chr 3, 100949961: 100949961
24NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicGRCh37Chr 14, 68196025: 68196025
25USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)single nucleotide variantPathogenicGRCh37Chr 1, 215956121: 215956121
26USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)single nucleotide variantPathogenicGRCh37Chr 1, 215807865: 215807865
27USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)single nucleotide variantPathogenicGRCh37Chr 1, 216419934: 216419934
28USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)single nucleotide variantPathogenicGRCh37Chr 1, 215972456: 215972456
29RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
30USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantPathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
31USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
32USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
33USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
34AIPL1NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter)single nucleotide variantPathogenicrs62637014GRCh37Chr 17, 6329101: 6329101
35AIPL1NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs)deletionPathogenicrs62637016GRCh37Chr 17, 6328924: 6328925
36AIPL1NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg)single nucleotide variantPathogenicrs62637012GRCh37Chr 17, 6330004: 6330004
37AIPL1NM_014336.4(AIPL1): c.1126C> T (p.Pro376Ser)single nucleotide variantPathogenicrs61757484GRCh37Chr 17, 6328809: 6328809
38AIPL1NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro)single nucleotide variantPathogenicrs62637010GRCh37Chr 17, 6330254: 6330254
39AIPL1NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn)single nucleotide variantPathogenicrs62637011GRCh37Chr 17, 6330226: 6330226
40AIPL1NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser)single nucleotide variantPathogenicrs142326926GRCh37Chr 17, 6329935: 6329935
41AIPL1NM_014336.4(AIPL1): c.905G> T (p.Arg302Leu)single nucleotide variantPathogenicrs62637015GRCh37Chr 17, 6329030: 6329030
42TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
43PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
44RPE65NM_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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Compounds for genes affiliated with Leber Congenital Amaurosis 4

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Leber Congenital Amaurosis 4 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1retinoid449.6RHO, CRX, RPE65
211-cis-retinol44 2410.6RHO, RPE65
3vitamin a44 24 1111.3RDH12, RHO, RPE65, AIPL1

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:006034210.0RDH12, RHO
2photoreceptor disc membraneGO:00973819.8PDE6B, RHO
3photoreceptor outer segmentGO:00017509.7RHO, TULP1
4photoreceptor outer segment membraneGO:00426229.6RHO, ROM1
5photoreceptor inner segmentGO:00019179.5RHO, TULP1, AIPL1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1rhodopsin mediated signaling pathwayGO:00160569.9RHO, PDE6B
2retinoid metabolic processGO:00015239.7RPE65, RHO, RDH12
3regulation of rhodopsin mediated signaling pathwayGO:00224009.6RHO, PDE6B
4detection of light stimulus involved in visual perceptionGO:00509089.4BEST1, EYS
5phototransduction, visible lightGO:00076039.3AIPL1, RPE65, PDE6B, RHO, RDH12
6response to stimulusGO:00508969.0CRX, PRCD, USH2A
7photoreceptor cell maintenanceGO:00454949.0RDH12, USH2A, TULP1
8retina development in camera-type eyeGO:00600418.9TULP1, PRPH2, PDE6B, CRX, RHO
9visual perceptionGO:00076016.0IMPG2, AIPL1, TULP1, USH2A, PRPH2, PRCD

Sources for Leber Congenital Amaurosis 4

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet