MCID: LBR014
MIFTS: 34

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 49 45 67 65
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

Characteristics:

HPO:

61
leber congenital amaurosis 4:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 604393
MeSH36 D057130
UMLS65 C1858386

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 leukemia and cone-rod dystrophy, and has symptoms including keratoconus, pendular nystagmus and attenuation of retinal blood vessels. An important gene associated with Leber Congenital Amaurosis 4 is AIPL1 (Aryl Hydrocarbon Receptor Interacting Protein Like 1). Affiliated tissues include retina and eye, and related mouse phenotypes are nervous system and vision/eye.

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 194)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia29.6AIPL1, RPE65, USH2A
2cone-rod dystrophy13.1
3spondylometaphyseal dysplasia with cone-rod dystrophy12.9
4cone-rod dystrophy 312.9
5cone-rod dystrophy 512.9
6cone-rod dystrophy, x-linked, 112.9
7cone-rod dystrophy 1612.9
8cone-rod dystrophy 1212.9
9cone-rod dystrophy 712.9
10cone-rod dystrophy 912.9
11cone-rod dystrophy 1512.9
12cone-rod dystrophy 1312.9
13cone-rod dystrophy 1112.9
14cone-rod dystrophy 1012.9
15cone-rod dystrophy 612.9
16cone-rod dystrophy 1812.9
17cone-rod dystrophy 2012.9
18cone-rod dystrophy 1912.9
19cone-rod dystrophy 2112.8
20cone-rod dystrophy 812.7
21cone-rod dystrophy 1712.7
22cone-rod dystrophy 112.7
23cone-rod dystrophy x-linked 212.7
24cone-rod dystrophy 412.6
25prph2-related cone-rod dystrophy12.6
26unc119-related cone-rod dystrophy12.6
27retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome12.4
28jalili syndrome12.4
29cone-rod dystropy, x-linked, 312.3
30cone dystrophy-312.1
31leber congenital amaurosis 1411.7
32hypotrichosis, congenital, with juvenile macular dystrophy11.6
33retinitis pigmentosa11.6
34prostatitis10.6
35alstrom syndrome10.5
36cone dystrophy 410.5
37bardet-biedl syndrome 110.5
38leber congenital amaurosis 310.5
39blue cone monochromacy10.5
40bardet-biedl syndrome10.5
41adenocarcinoma10.5
42tuberculosis10.5
43endotheliitis10.5
44schizophrenia10.4
45breast cancer10.4
46hepatitis10.4
47tick-borne encephalitis10.4
48oral squamous cell carcinoma10.4
49lymphoma10.4
50arachnoiditis10.4

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 pendular nystagmus HP:0012043
3 attenuation of retinal blood vessels HP:0007843
4 undetectable light- and dark-adapted electroretinogram HP:0007688
5 reduced visual acuity HP:0007663
6 macular atrophy HP:0007401
7 nyctalopia HP:0000662
8 cone/cone-rod dystrophy HP:0000548
9 optic disc pallor HP:0000543

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
4Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)Not yet recruitingNCT02781480Phase 1

Search NIH Clinical Center for Leber Congenital Amaurosis 4

Genetic Tests for Leber Congenital Amaurosis 4

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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:00036318.5AIPL1, RPE65, USH2A
2MP:00053918.2AIPL1, RPE65, USH2A

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 11)
id Gene Variation Type Significance SNP ID Assembly Location
1RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
2USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
3USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
4AIPL1NM_014336.4(AIPL1): c.834G> A (p.Trp278Ter)single nucleotide variantPathogenicrs62637014GRCh37Chr 17, 6329101: 6329101
5AIPL1NM_014336.4(AIPL1): c.1010_1011delAG (p.Glu337Alafs)deletionPathogenicrs62637016GRCh37Chr 17, 6328924: 6328925
6AIPL1NM_014336.4(AIPL1): c.715T> C (p.Cys239Arg)single nucleotide variantPathogenicrs62637012GRCh37Chr 17, 6330004: 6330004
7AIPL1NM_014336.4(AIPL1): c.1126C> T (p.Pro376Ser)single nucleotide variantPathogenicrs61757484GRCh37Chr 17, 6328809: 6328809
8AIPL1NM_014336.4(AIPL1): c.589G> C (p.Ala197Pro)single nucleotide variantPathogenicrs62637010GRCh37Chr 17, 6330254: 6330254
9AIPL1NM_014336.4(AIPL1): c.617T> A (p.Ile206Asn)single nucleotide variantPathogenicrs62637011GRCh37Chr 17, 6330226: 6330226
10AIPL1NM_014336.4(AIPL1): c.784G> A (p.Gly262Ser)single nucleotide variantPathogenicrs142326926GRCh37Chr 17, 6329935: 6329935
11AIPL1NM_014336.4(AIPL1): c.905G> T (p.Arg302Leu)single nucleotide variantPathogenicrs62637015GRCh37Chr 17, 6329030: 6329030

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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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