Leber Congenital Amaurosis 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

UniProtKB/Swiss-Prot: ⁷³ 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.

MalaCards based summary: Leber Congenital Amaurosis 5, also known as lca5, is related to leber plus disease and fundus dystrophy. An important gene associated with Leber Congenital Amaurosis 5 is LCA5 (Lebercilin LCA5). Affiliated tissues include retina, eye and breast, and related phenotypes are nystagmus and visual impairment

Disease Ontology: ¹¹ A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has material basis in mutation in the LCA5 gene on chromosome 6q14.1.

Wikipedia: ⁷⁵ Lebercilin, also known as leber congenital amaurosis 5 (LCA5), is a protein that in humans is encoded by... more...

More information from OMIM: 604537 PS204000

Sources

Related Diseases for Leber Congenital Amaurosis 5

Diseases in the Leber Congenital Amaurosis 4 family:

Leber Congenital Amaurosis 1	Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3	Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 9	Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 10	Leber Congenital Amaurosis 13
Leber Congenital Amaurosis 14	Leber Congenital Amaurosis 6
Leber Congenital Amaurosis 7	Leber Congenital Amaurosis 8
Leber Congenital Amaurosis 11	Leber Congenital Amaurosis 15
Leber Congenital Amaurosis 16	Leber Congenital Amaurosis 17
Leber Congenital Amaurosis 19

Diseases related to Leber Congenital Amaurosis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)

#	Related Disease	Score
1	leber plus disease	11.1
2	fundus dystrophy	11.1
3	retinitis pigmentosa	11.0
4	cone-rod dystrophy 2	11.0
5	joubert syndrome 1	11.0
6	keratoconus	11.0
7	bardet-biedl syndrome	11.0
8	cone dystrophy	10.9
9	leber congenital amaurosis 3	10.9
10	leber congenital amaurosis 4	10.9
11	coloboma of macula	10.9
12	simpson-golabi-behmel syndrome, type 2	10.9
13	leber congenital amaurosis 9	10.9
14	leber congenital amaurosis 1	10.8
15	leber congenital amaurosis 2	10.8
16	meckel syndrome, type 1	10.8
17	senior-loken syndrome 1	10.8
18	retinitis pigmentosa 28	10.8
19	leber congenital amaurosis 12	10.8
20	leber congenital amaurosis 10	10.8
21	leber congenital amaurosis 13	10.8
22	leber congenital amaurosis 14	10.8
23	retinitis pigmentosa 54	10.8
24	leber congenital amaurosis 6	10.8
25	leber congenital amaurosis 7	10.8
26	leber congenital amaurosis 8	10.8
27	leber congenital amaurosis 11	10.8
28	leber congenital amaurosis 15	10.8
29	meckel syndrome, type 8	10.8
30	leber congenital amaurosis 16	10.8
31	cone-rod dystrophy 16	10.8
32	cone-rod dystrophy 18	10.8
33	cone-rod dystrophy 20	10.8
34	spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis	10.8
35	usher syndrome	10.8
36	congenital stationary night blindness	10.8
37	refractive amblyopia	10.8
38	nephronophthisis	10.8
39	achromatopsia	10.8
40	inherited retinal disorder	10.2
41	retinitis	10.1
42	pathologic nystagmus	10.1
43	progressive cone dystrophy	10.1
44	keratomalacia	10.0
45	peripheral retinal degeneration	10.0
46	retinal disease	10.0
47	retinal degeneration	10.0
48	ciliopathy	10.0
49	polydactyly, postaxial, type a1	9.9
50	joubert syndrome 10	9.9

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 5:

Sources

Symptoms & Phenotypes for Leber Congenital Amaurosis 5

Human phenotypes related to Leber Congenital Amaurosis 5:

³⁰ (show all 6)

#	Description	HPO Source Accession
1	nystagmus ³⁰	HP:0000639
2	visual impairment ³⁰	HP:0000505
3	high hypermetropia ³⁰	HP:0008499
4	visual loss ³⁰	HP:0000572
5	hypermetropia ³⁰	HP:0000540
6	undetectable electroretinogram ³⁰	HP:0000550

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
nystagmus
attenuated retinal vessels (in some patients)
atrophy of the retinal pigment epithelium
visual loss, congenital
high hyperopia
more

Clinical features from OMIM®:

604537 (Updated 08-Dec-2022)

Sources

Drugs & Therapeutics for Leber Congenital Amaurosis 5

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	An Open Label, Dose Exploration, Safety and Tolerability Study of a Subretinal Injection of an OPGx-001 Gene Vector to Participants With LCA5-Associated Inherited Retinal Degeneration (LCA5-IRD)	Not yet recruiting	NCT05616793	Phase 1, Phase 2

Search NIH Clinical Center for Leber Congenital Amaurosis 5

Sources

Genetic Tests for Leber Congenital Amaurosis 5

Genetic tests related to Leber Congenital Amaurosis 5:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 5 ²⁸	LCA5

Sources

Anatomical Context for Leber Congenital Amaurosis 5

Organs/tissues related to Leber Congenital Amaurosis 5:

MalaCards : Retina, Eye, Breast

Sources

Publications for Leber Congenital Amaurosis 5

Articles related to Leber Congenital Amaurosis 5:

(show all 47)

#	Title	Authors	PMID	Year
1	Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. ⁶² ⁵⁷ ⁵	den Hollander AI...Roepman R	17546029	2007
2	Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. ⁶² ⁵⁷ ⁵	Mohamed MD...Inglehearn CF	12642313	2003
3	Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. ⁵⁷ ⁵	Zernant J...Allikmets R	16123401	2005
4	A novel locus for Leber congenital amaurosis maps to chromosome 6q. ⁵⁷ ⁵	Dharmaraj S...Maumenee IH	10631161	2000
5	First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. ⁶² ⁵	Hengel H...Schols L	32214227	2020
6	Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. ⁶² ⁵	Beryozkin A...Sharon D	24474277	2014
7	Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. ⁶² ⁵	Mackay DS...Wissinger B	23946133	2013
8	Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. ⁶² ⁵	Boldt K...Ueffing M	21606596	2011
9	Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization. ⁶² ⁵	Jacobson SG...Stone EM	19503738	2009
10	Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II. ⁶² ⁵	Gerber S...Rozet JM	18000884	2007
11	Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶² ⁵	Weleber RG...Beattie C	20301475	2004
12	Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. ⁵	Farwell KD...Tang S	25356970	2015
13	[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia]. ⁵⁷	FRANCESCHETTI A...DIETERLE P	13190865	1954
14	Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. ⁶²	Skorczyk-Werner A...Krawczynski MR	36369640	2022
15	The interaction between LC8 and LCA5 reveals a novel oligomerization function of LC8 in the ciliary-centrosome system. ⁶²	Szaniszlo T...Dosztanyi Z	36114230	2022
16	Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign. ⁶²	Yue F...Jing J	35713440	2022
17	The early-stage triple-negative breast cancer landscape derives a novel prognostic signature and therapeutic target. ⁶²	Yang YS...Shao ZM	35334008	2022
18	Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis. ⁶²	O'Connor K...Aleman TS	35128149	2022
19	Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India. ⁶²	Viswarubhiny S...Sundaresan P	33957996	2021
20	Inherited retinal diseases: Therapeutics, clinical trials and end points-A review. ⁶²	Georgiou M...Michaelides M	33686777	2021
21	Treatment Potential for LCA5-Associated Leber Congenital Amaurosis. ⁶²	Uyhazi KE...Aleman TS	32428231	2020
22	Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking. ⁶²	Qu Z...Liu M	31348989	2019
23	Survival marker genes of colorectal cancer derived from consistent transcriptomic profiling. ⁶²	Martinez-Romero J...De Las Rivas J	30537927	2018
24	Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness. ⁶²	Song JY...Bennett J	29673930	2018
25	A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. ⁶²	Zhao HJ...Jiang W	29400301	2018
26	Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy. ⁶²	Chen X...Zhao C	27067258	2016
27	Genetic modifiers of response to glucose-insulin-potassium (GIK) infusion in acute coronary syndromes and associations with clinical outcomes in the IMMEDIATE trial. ⁶²	Ellis KL...Peter I	25778467	2015
28	Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. ⁶²	Maria M...Cremers FP	25775262	2015
29	Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing. ⁶²	Maranhao B...Ayyagari R	26352687	2015
30	Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population. ⁶²	Corton M...Ayuso C	24144451	2014
31	Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis. ⁶²	Chen Y...Zhang Q	23661368	2013
32	Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. ⁶²	Li L...Hejtmancik JF	21602930	2011
33	Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts. ⁶²	Ahmad A...Bolz HJ	21850168	2011
34	Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. ⁶²	Walia S...Stone EM	20079931	2010
35	Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber congenital amaurosis. ⁶²	Vallespin E...Ayuso C	21488265	2010
36	Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. ⁶²	Perrault I...Rozet JM	20104588	2010
37	Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA). ⁶²	Vallespin E...Ayuso C	20108395	2010
38	Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan. ⁶²	McKibbin M...Inglehearn CF	20065226	2010
39	OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. ⁶²	Coene KL...de Brouwer AP	19800048	2009
40	Mutation survey of known LCA genes and loci in the Saudi Arabian population. ⁶²	Li Y...Chen R	18936139	2009
41	LCA5, a rare genetic cause of leber congenital amaurosis in Koreans. ⁶²	Seong MW...Park SS	19172513	2009
42	Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. ⁶²	van Wijk E...Kremer H	18826961	2009
43	Leber congenital amaurosis: genes, proteins and disease mechanisms. ⁶²	den Hollander AI...Cremers FP	18632300	2008
44	Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. ⁶²	Ramprasad VL...Kumaramanickavel G	18334959	2008
45	Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. ⁶²	Ozgul RK...Ogus A	16082399	2006
46	A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. ⁶²	Gerber S...Kaplan J	12567265	2002
47	COMSTAT rule for vigilance classification based on spontaneous EEG activity. ⁶²	Streitberg B...Kubicki S	3627388	1987

Sources

Genes for Leber Congenital Amaurosis 5

Genes related to Leber Congenital Amaurosis 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LCA5	Lebercilin LCA5	Protein Coding	1043.14	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Gene name (show sections)	10631161 12642313 16123401 (more) 17546029 18000884 19503738 20301475 21606596 23946133 24474277 25356970 32214227
2	LCA5L	Lebercilin LCA5 Like	Protein Coding	8.69	GeneCards inferred via : Gene name (show sections)

Sources

Variations for Leber Congenital Amaurosis 5

ClinVar genetic disease variations for Leber Congenital Amaurosis 5:

⁵ (show top 50) (show all 170)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LCA5 and overlap with 1 gene(s)	NM_181714.4(LCA5):c.0_-298+211del	DEL	Pathogenic	969		GRCh37: 6:80246622-80248219 GRCh38: 6:79536905-79538502
2	LCA5	NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer)	DEL	Pathogenic	810630	rs1769845495	GRCh37: 6:80201335-80201341 GRCh38: 6:79491618-79491624
3	LCA5	NM_001122769.3(LCA5):c.93del (p.Gln31fs)	DEL	Pathogenic	978436	rs1766528592	GRCh37: 6:80228519-80228519 GRCh38: 6:79518802-79518802
4	LCA5	NM_001122769.3(LCA5):c.1062C>A (p.Tyr354Ter)	SNV	Pathogenic	1323232		GRCh37: 6:80201341-80201341 GRCh38: 6:79491624-79491624
5	LCA5	NM_001122769.3(LCA5):c.527_529del (p.Arg176del)	DEL	Pathogenic	978438	rs1766311895	GRCh37: 6:80223120-80223122 GRCh38: 6:79513403-79513405
6	LCA5	NM_001122769.3(LCA5):c.535_536insT (p.Gln179fs)	INSERT	Pathogenic	978439	rs1766311263	GRCh37: 6:80223113-80223114 GRCh38: 6:79513396-79513397
7	LCA5	NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter)	SNV	Pathogenic	978440	rs1766298401	GRCh37: 6:80223039-80223039 GRCh38: 6:79513322-79513322
8	LCA5	NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)	DEL	Pathogenic	978441	rs1769904494	GRCh37: 6:80203438-80203444 GRCh38: 6:79493721-79493727
9	LCA5	NM_001122769.3(LCA5):c.858+1G>C	SNV	Pathogenic	978442	rs753594556	GRCh37: 6:80203329-80203329 GRCh38: 6:79493612-79493612
10	LCA5	NM_001122769.3(LCA5):c.1186G>T (p.Glu396Ter)	SNV	Pathogenic	978443	rs1769761816	GRCh37: 6:80198846-80198846 GRCh38: 6:79489129-79489129
11	LCA5	NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter)	SNV	Pathogenic	978444	rs1769706250	GRCh37: 6:80197329-80197329 GRCh38: 6:79487612-79487612
12	LCA5	NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)	SNV	Pathogenic	438153	rs866395428	GRCh37: 6:80203350-80203350 GRCh38: 6:79493633-79493633
13	LCA5	NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter)	SNV	Pathogenic	641484	rs1268307330	GRCh37: 6:80197572-80197572 GRCh38: 6:79487855-79487855
14	LCA5	NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)	SNV	Pathogenic	960517	rs151017794	GRCh37: 6:80203425-80203425 GRCh38: 6:79493708-79493708
15	LCA5	NM_001122769.3(LCA5):c.1368dup (p.Glu457fs)	DUP	Pathogenic	1172715		GRCh37: 6:80197446-80197447 GRCh38: 6:79487729-79487730
16	LCA5	NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)	SNV	Pathogenic	968	rs121918165	GRCh37: 6:80203353-80203353 GRCh38: 6:79493636-79493636
17	LCA5	NM_001122769.3(LCA5):c.1151del (p.Pro384fs)	DEL	Pathogenic	966	rs386834252	GRCh37: 6:80198881-80198881 GRCh38: 6:79489164-79489164
18	LCA5	NM_001122769.3(LCA5):c.1476dup (p.Pro493fs)	DUP	Pathogenic	967	rs386834253	GRCh37: 6:80197338-80197339 GRCh38: 6:79487621-79487622
19	LCA5	NM_001122769.3(LCA5):c.574dup (p.Thr192fs)	DUP	Pathogenic	374516	rs1057519136	GRCh37: 6:80223074-80223075 GRCh38: 6:79513357-79513358
20	LCA5	NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter)	SNV	Likely Pathogenic	844114	rs748370008	GRCh37: 6:80228509-80228509 GRCh38: 6:79518792-79518792
21	LCA5	NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter)	SNV	Likely Pathogenic	961285	rs772573829	GRCh37: 6:80197059-80197059 GRCh38: 6:79487342-79487342
22	LCA5	NM_001122769.3(LCA5):c.859-2A>G	SNV	Likely Pathogenic	1067727		GRCh37: 6:80202366-80202366 GRCh38: 6:79492649-79492649
23	LCA5	NM_001122769.3(LCA5):c.1545dup (p.Glu516fs)	DUP	Likely Pathogenic	978445	rs1769703329	GRCh37: 6:80197269-80197270 GRCh38: 6:79487552-79487553
24	LCA5	NM_001122769.3(LCA5):c.395A>G (p.Glu132Gly)	SNV	Likely Pathogenic	978437	rs1766318937	GRCh37: 6:80223254-80223254 GRCh38: 6:79513537-79513537
25	LCA5	NM_001122769.3(LCA5):c.*1385T>C	SNV	Uncertain Significance	911094	rs553148047	GRCh37: 6:80195336-80195336 GRCh38: 6:79485619-79485619
26	LCA5	NM_001122769.3(LCA5):c.*1326A>G	SNV	Uncertain Significance	911095	rs568376970	GRCh37: 6:80195395-80195395 GRCh38: 6:79485678-79485678
27	LCA5	NM_001122769.3(LCA5):c.*1002A>G	SNV	Uncertain Significance	908317	rs930745321	GRCh37: 6:80195719-80195719 GRCh38: 6:79486002-79486002
28	LCA5	NM_001122769.3(LCA5):c.*958G>A	SNV	Uncertain Significance	908318	rs188791703	GRCh37: 6:80195763-80195763 GRCh38: 6:79486046-79486046
29	LCA5	NM_001122769.3(LCA5):c.*892A>G	SNV	Uncertain Significance	908319	rs139670091	GRCh37: 6:80195829-80195829 GRCh38: 6:79486112-79486112
30	LCA5	NM_001122769.3(LCA5):c.*838C>G	SNV	Uncertain Significance	908320	rs1341159813	GRCh37: 6:80195883-80195883 GRCh38: 6:79486166-79486166
31	LCA5	NM_001122769.3(LCA5):c.-191-6065C>A	SNV	Uncertain Significance	908457	rs79765454	GRCh37: 6:80234867-80234867 GRCh38: 6:79525150-79525150
32	LCA5	NM_001122769.3(LCA5):c.*763A>G	SNV	Uncertain Significance	909162	rs1769649594	GRCh37: 6:80195958-80195958 GRCh38: 6:79486241-79486241
33	LCA5	NM_001122769.3(LCA5):c.*719A>G	SNV	Uncertain Significance	909163	rs2292108	GRCh37: 6:80196002-80196002 GRCh38: 6:79486285-79486285
34	LCA5	NM_001122769.3(LCA5):c.*628T>G	SNV	Uncertain Significance	909164	rs1211696258	GRCh37: 6:80196093-80196093 GRCh38: 6:79486376-79486376
35	LCA5	NM_001122769.3(LCA5):c.*617T>C	SNV	Uncertain Significance	909165	rs573627037	GRCh37: 6:80196104-80196104 GRCh38: 6:79486387-79486387
36	LCA5	NM_001122769.3(LCA5):c.*497G>A	SNV	Uncertain Significance	909166	rs114346256	GRCh37: 6:80196224-80196224 GRCh38: 6:79486507-79486507
37	LCA5	NM_001122769.3(LCA5):c.-398G>T	SNV	Uncertain Significance	909299	rs370115829	GRCh37: 6:80247088-80247088 GRCh38: 6:79537371-79537371
38	LCA5	NM_001122769.3(LCA5):c.-400G>T	SNV	Uncertain Significance	909300	rs1194453509	GRCh37: 6:80247090-80247090 GRCh38: 6:79537373-79537373
39	LCA5	NM_001122769.3(LCA5):c.*1851A>G	SNV	Uncertain Significance	910196	rs1769610596	GRCh37: 6:80194870-80194870 GRCh38: 6:79485153-79485153
40	LCA5	NM_001122769.3(LCA5):c.*1777T>A	SNV	Uncertain Significance	910197	rs58717513	GRCh37: 6:80194944-80194944 GRCh38: 6:79485227-79485227
41	LCA5	NM_001122769.3(LCA5):c.*1261A>G	SNV	Uncertain Significance	911097	rs1769633494	GRCh37: 6:80195460-80195460 GRCh38: 6:79485743-79485743
42	LCA5	NM_001122769.3(LCA5):c.*464C>T	SNV	Uncertain Significance	911161	rs955948481	GRCh37: 6:80196257-80196257 GRCh38: 6:79486540-79486540
43	LCA5	NM_001122769.3(LCA5):c.*344T>C	SNV	Uncertain Significance	911162	rs571100363	GRCh37: 6:80196377-80196377 GRCh38: 6:79486660-79486660
44	LCA5	NM_001122769.3(LCA5):c.*91A>G	SNV	Uncertain Significance	911163	rs904422663	GRCh37: 6:80196630-80196630 GRCh38: 6:79486913-79486913
45	LCA5	NM_001122769.3(LCA5):c.*29G>T	SNV	Uncertain Significance	911164	rs534130467	GRCh37: 6:80196692-80196692 GRCh38: 6:79486975-79486975
46	LCA5	NM_001122769.3(LCA5):c.2033A>C (p.Lys678Thr)	SNV	Uncertain Significance	911165	rs1769680029	GRCh37: 6:80196782-80196782 GRCh38: 6:79487065-79487065
47	LCA5	NM_001122769.3(LCA5):c.650A>C (p.Glu217Ala)	SNV	Uncertain Significance	911231	rs371429608	GRCh37: 6:80222999-80222999 GRCh38: 6:79513282-79513282
48	LCA5	NM_001122769.3(LCA5):c.488G>A (p.Arg163His)	SNV	Uncertain Significance	911232	rs189168054	GRCh37: 6:80223161-80223161 GRCh38: 6:79513444-79513444
49	LCA5	NM_001122769.3(LCA5):c.*1234A>C	SNV	Uncertain Significance	911300	rs1028375075	GRCh37: 6:80195487-80195487 GRCh38: 6:79485770-79485770
50	LCA5	NM_001122769.3(LCA5):c.*1232T>G	SNV	Uncertain Significance	911301	rs1278278130	GRCh37: 6:80195489-80195489 GRCh38: 6:79485772-79485772

Sources

Expression for Leber Congenital Amaurosis 5

Search GEO for disease gene expression data for Leber Congenital Amaurosis 5.

Sources

Pathways for Leber Congenital Amaurosis 5

Sources

GO Terms for Leber Congenital Amaurosis 5

Cellular components related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	axoneme	GO:0005930	8.92	LCA5L LCA5

Biological processes related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intraciliary transport	GO:0042073	8.92	LCA5L LCA5

Sources

Sources for Leber Congenital Amaurosis 5

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LCA5 MCID: LBR015 MIFTS: 37	Leber Congenital Amaurosis 5 (LCA5) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Leber Congenital Amaurosis 5 (LCA5)

Aliases & Classifications for Leber Congenital Amaurosis 5

MalaCards integrated aliases for Leber Congenital Amaurosis 5:

Characteristics:

Inheritance:

OMIM®:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 5

Related Diseases for Leber Congenital Amaurosis 5

Diseases in the Leber Congenital Amaurosis 4 family:

Diseases related to Leber Congenital Amaurosis 5 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 5:

Symptoms & Phenotypes for Leber Congenital Amaurosis 5

Human phenotypes related to Leber Congenital Amaurosis 5:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Leber Congenital Amaurosis 5

Interventional clinical trials:

Genetic Tests for Leber Congenital Amaurosis 5

Genetic tests related to Leber Congenital Amaurosis 5:

Anatomical Context for Leber Congenital Amaurosis 5

Organs/tissues related to Leber Congenital Amaurosis 5:

Publications for Leber Congenital Amaurosis 5

Articles related to Leber Congenital Amaurosis 5:

Genes for Leber Congenital Amaurosis 5

Genes related to Leber Congenital Amaurosis 5 (1 elite genes):

Variations for Leber Congenital Amaurosis 5

ClinVar genetic disease variations for Leber Congenital Amaurosis 5:

Expression for Leber Congenital Amaurosis 5

Pathways for Leber Congenital Amaurosis 5

GO Terms for Leber Congenital Amaurosis 5

Cellular components related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

Biological processes related to Leber Congenital Amaurosis 5 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 5