Leber Congenital Amaurosis 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Leber Congenital Amaurosis 2

MalaCards integrated aliases for Leber Congenital Amaurosis 2:

Name: Leber Congenital Amaurosis 2 ⁵⁷ ¹¹ ⁷³ ²⁸ ¹² ⁵ ¹⁴

Lca2 ⁵⁷ ¹¹ ⁷³

Amaurosis Congenita of Leber Ii ⁵⁷ ¹¹

Amaurosis Congenita of Leber, Type 2 ⁷⁵

Leber Congenital Amaurosis, Type Ii ⁷¹

Leber Congenital Amaurosis Type Ii ⁷³

Leber Congenital Amaurosis, Type 2 ³⁸

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
onset in infancy
progressive disorder
founder mutation discovered in an isolated dutch population

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹¹ DOID:0110016

OMIM® ⁵⁷ 204100

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴³ D057130

ICD10 ³¹ H35.5

MedGen ⁴⁰ C1859844

SNOMED-CT via HPO ⁶⁹ 13164000 228156007 247144003 more

UMLS ⁷¹ C1859844

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Summaries for Leber Congenital Amaurosis 2

OMIM®: ⁵⁷ Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. (204100) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 2, also known as lca2, is related to retinal disease and leber plus disease. An important gene associated with Leber Congenital Amaurosis 2 is RPE65 (Retinoid Isomerohydrolase RPE65), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are intellectual disability and nystagmus

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.

Disease Ontology: ¹¹ A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has material basis in mutation in the RPE65 gene on chromosome 1.

Wikipedia: ⁷⁵ Leber congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the first... more...

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Related Diseases for Leber Congenital Amaurosis 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 125)

#	Related Disease	Score	Top Affiliating Genes
1	retinal disease	29.0	RPGR RPE65 RHO GUCY2D CRX CRB1
2	leber plus disease	26.4	TULP1 SPATA7 RPGR RPE65 RHO RDH12
3	fundus dystrophy	26.1	TULP1 SPATA7 RPGR RPE65 RHO RDH12
4	cold-induced sweating syndrome 3	10.3	RPE65 GUCY2D
5	cone-rod dystrophy 17	10.3	GUCY2D AIPL1
6	simpson-golabi-behmel syndrome, type 2	10.2	LCA5 CEP290
7	solar retinopathy	10.2	RHO RDH12
8	intellectual developmental disorder, autosomal dominant 3	10.2	RD3 GUCY2D
9	retinal perforation	10.2	RPE65 RHO
10	keratomalacia	10.2	RHO LRAT
11	pathologic nystagmus	10.2
12	leber congenital amaurosis / early-onset severe retinal dystrophy	10.2
13	nonsyndromic retinitis pigmentosa	10.2
14	rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy	10.2
15	oto-palatal-digital syndrome	10.2
16	night blindness, congenital stationary, autosomal dominant 1	10.1	SPATA7 RHO
17	cone-rod dystrophy 6	10.1	RD3 GUCY2D
18	retinitis pigmentosa 7	10.1	RPE65 RHO
19	gapo syndrome	10.1	CRB1 AIPL1
20	retinal vascular disease	10.1	RPE65 RHO AIPL1
21	retinitis pigmentosa 35	10.1	RPGR RDH12
22	retinitis pigmentosa 50	10.1	RPE65 MERTK
23	pseudoretinitis pigmentosa	10.1	TULP1 CRB1
24	retinitis pigmentosa 84	10.1	RPGR RDH12
25	retinitis pigmentosa 54	10.1	RPGR LCA5
26	pigmented paravenous chorioretinal atrophy	10.1	GUCY2D CRB1 AIPL1
27	retinal cone dystrophy 1	10.1	GUCY2D CRX
28	retinitis pigmentosa 1	10.1	RHO CRX
29	macular retinal edema	10.0	RPE65 RHO CRB1
30	enophthalmos	10.0	GUCY2D CRB1 CEP290
31	lens disease	10.0	RPE65 RHO CRB1
32	cone-rod dystrophy 13	10.0	SPATA7 RPGR
33	joubert syndrome 7	10.0	RPGR AIPL1
34	chorioretinal scar	10.0	RHO RDH12 CRB1
35	nephronophthisis 19	10.0	RPGR CEP290
36	vitreous syneresis	10.0	RPGR CRB1
37	retinitis pigmentosa 39	10.0	RPGR RPE65 CEP290
38	bietti crystalline corneoretinal dystrophy	10.0	RPGR RPE65
39	vitreous disease	10.0	RPE65 RHO
40	retinitis pigmentosa 2	10.0	RPGR RHO CEP290
41	cone-rod dystrophy 16	10.0	RPGR LCA5
42	inherited retinal disorder	10.0
43	retinitis pigmentosa 20	10.0	RPE65 CNGB3
44	cone-rod dystrophy 9	9.9	GUCY2D CNGB3
45	retinitis pigmentosa 12	9.9	RPGR CRB1 AIPL1
46	optic disk drusen	9.9	RPGR RHO CRB1
47	colorblindness, partial, protan series	9.9	RHO CNGB3
48	exudative vitreoretinopathy	9.9	RPGR CRB1 CEP290
49	microphthalmia, syndromic 9	9.9	RDH12 LRAT
50	cone-rod dystrophy 1	9.8	RPGR CNGB3

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 2:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 2

Human phenotypes related to Leber Congenital Amaurosis 2:

³⁰ (show all 13)

#	Description	HPO Frequency	HPO Source Accession
1	intellectual disability ³⁰	Very rare (1%)	HP:0001249
2	nystagmus ³⁰	Very rare (1%)	HP:0000639
3	reduced visual acuity ³⁰	Very rare (1%)	HP:0007663
4	nyctalopia ³⁰	Very rare (1%)	HP:0000662
5	optic disc pallor ³⁰	Very rare (1%)	HP:0000543
6	fundus atrophy ³⁰	Very rare (1%)	HP:0001099
7	attenuation of retinal blood vessels ³⁰	Very rare (1%)	HP:0007843
8	undetectable light- and dark-adapted electroretinogram ³⁰	Very rare (1%)	HP:0007688
9	absent foveal reflex ³⁰	Very rare (1%)	HP:0030825
10	blindness ³⁰		HP:0000618
11	cerebellar vermis hypoplasia ³⁰		HP:0001320
12	pigmentary retinopathy ³⁰		HP:0000580
13	eye poking ³⁰		HP:0001483

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
nystagmus
blindness
strabismus
myopia
hypermetropia
more

Neurologic Central Nervous System:
psychomotor retardation (in some patients)

Head And Neck Neck:
torticollis (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
autistic-like contact disorder (in some patients)

Clinical features from OMIM®:

204100 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.04	AIPL1 CEP290 CNGB3 CRB1 CRX GUCY2D
2	no effect	GR00402-S-2	10.04	AIPL1 CEP290 CNGB3 CRB1 CRX LRAT

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 2:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.86	AIPL1 CEP290 CNGB3 CRB1 CRX GUCY2D
2	pigmentation	MP:0001186	9.81	CEP290 CRB1 CRX LCA5 MERTK RHO
3	vision/eye	MP:0005391	9.53	AIPL1 CEP290 CNGB3 CRB1 CRX GUCY2D

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Drugs & Therapeutics for Leber Congenital Amaurosis 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase
1	A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing RPE65 (rAAV2-CB-hRPE65) in Patients With Leber Congenital Amaurosis Type 2	Completed	NCT00749957	Phase 1, Phase 2
2	Natural History of Patients With Inherited Retinal Diseases Due to Mutations in RPE65 Gene	Unknown status	NCT04525261
3	Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno-associated Virus Vector (AAV2/5-OPTIRPE65) for Gene Therapy of Adults and Children With Retinal Dystrophy Owing to Defects in RPE65 (LCA2)	Active, not recruiting	NCT02946879

Search NIH Clinical Center for Leber Congenital Amaurosis 2

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Genetic Tests for Leber Congenital Amaurosis 2

Genetic tests related to Leber Congenital Amaurosis 2:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 2 ²⁸	RPE65

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Anatomical Context for Leber Congenital Amaurosis 2

Organs/tissues related to Leber Congenital Amaurosis 2:

MalaCards : Retina, Eye, Bone Marrow, Pancreatic Islet, Lung, Bone, Cortex

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Publications for Leber Congenital Amaurosis 2

Articles related to Leber Congenital Amaurosis 2:

(show top 50) (show all 144)

#	Title	Authors	PMID	Year
1	Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. ⁵⁷ ⁵	Maguire AM...Bennett J	19854499	2009
2	Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations. ⁵⁷ ⁵	Al-Khayer K...Traboulsi EI	14962443	2004
3	A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. ⁵⁷ ⁵	Yzer S...Cremers FP	12960219	2003
4	Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. ⁵⁷ ⁵	Morimura H...Dryja TP	9501220	1998
5	Mutations in RPE65 cause Leber's congenital amaurosis. ⁵⁷ ⁵	Marlhens F...Hamel CP	9326927	1997
6	Amaurosis congenita (Leber). ⁵⁷ ⁵	SCHAPPERT-KIMMIJSER J...VAN DEN BOSCH J	13616783	1959
7	Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65. ⁶² ⁵	Ripamonti C...Stockman A	25257057	2014
8	Safety and efficacy of gene transfer for Leber's congenital amaurosis. ⁶² ⁵⁷	Maguire AM...Bennett J	18441370	2008
9	RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study. ⁵	Testa F...Simonelli F	35129589	2022
10	Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population. ⁵	Gao FJ...Wu JH	33952291	2021
11	Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). ⁵	Skorczyk-Werner A...Krawczynski MR	33308271	2020
12	Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa. ⁵	Owczarek-Lipska M...Neidhardt J	32367544	2020
13	Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. ⁵	Xu K...Li Y	31630094	2020
14	Retinal Structure in RPE65-Associated Retinal Dystrophy. ⁵	Kumaran N...Michaelides M	32347917	2020
15	RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China. ⁵	Li S...Zhang Q	31273949	2020
16	Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. ⁵	Dan H...Shen Y	31960602	2020
17	Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing. ⁵	Zenteno JC...Chacon-Camacho OF	31736247	2020
18	Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy. ⁵	Motta FL...Sallum JMF	31878136	2019
19	RPE65-Mutation Associated Fundus Albipunctatus with Cone Dystrophy. ⁵	Ramtohul P...Denis D	31174678	2019
20	Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation. ⁵	Li Y...Redmond TM	30628748	2019
21	A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. ⁵	Glen WB...Martinez J	30870047	2019
22	The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. ⁵	Chung DC...Reape KZ	30268864	2019
23	Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population. ⁵	Zhong Z...Chen J	30996589	2019
24	Two-year progression analysis of RPE65 autosomal dominant retinitis pigmentosa. ⁵	Jauregui R...Tsang SH	29947567	2018
25	Development of a molecular diagnostic test for Retinitis Pigmentosa in the Japanese population. ⁵	Maeda A...Takahashi M	29785639	2018
26	Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. ⁵	Choi EH...Kiser PD	29659842	2018
27	Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. ⁵	Katagiri S...Hotta Y	29681726	2018
28	Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis. ⁵	Kumaran N...Michaelides M	29332120	2018
29	Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. ⁵	Porto FBO...Chen R	29186038	2017
30	Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. ⁵	Soens ZT...Chen R	28714225	2017
31	Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies. ⁵	Wang X...Fann YC	28838317	2017
32	Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. ⁵	Biswas P...Ayyagari R	28130426	2017
33	Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus. ⁵	Yang G...Zhao J	28393863	2017
34	A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice. ⁵	Shin Y...Ma JX	28041994	2017
35	Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. ⁵	Riera M...Pomares E	28181551	2017
36	Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations. ⁵	Hull S...Moore AT	26906952	2016
37	The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity. ⁵	Sergouniotis PI...Lovell SC	27628848	2016
38	Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. ⁵	Astuti GD...Cremers FP	26626312	2016
39	The clinical features of retinal disease due to a dominant mutation in RPE65. ⁵	Hull S...Webster AR	27307694	2016
40	Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins. ⁵	Jin M...Bok D	26427455	2016
41	Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial. ⁵	Tucker BA...Stone EM	26364624	2015
42	NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. ⁵	Ge Z...Chen R	26667666	2015
43	Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. ⁵	Li S...Jin M	25752820	2015
44	Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. ⁵	Wang H...Sui R	26047050	2015
45	Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores. ⁵	Cideciyan AV...Jacobson SG	26024124	2015
46	Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. ⁵	Huang XF...Jin ZB	25356976	2015
47	Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT). ⁵	Scholl HP...RET IRD 01 Study Group	26656277	2015
48	Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. ⁵	Srilekha S...Soumittra N	26147992	2015
49	Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. ⁵	Khan AO...Bolz HJ	24997176	2014
50	Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites. ⁵	Li S...Jin M	24849605	2014

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Genes for Leber Congenital Amaurosis 2

Genes related to Leber Congenital Amaurosis 2 (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	1342.01	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	9326927 9326941 9501220 (more) 9536098 9801879 9843205 10090910 10766140 10937591 11035546 11095629 11462243 11786058 12960219 13616783 14962443 15024725 15512997 15557452 16123401 16150724 16199547 16754667 16828753 17197551 17576681 17724218 17964524 18539930 18599565 18632300 18682808 19117922 19431183 19854499 19959640 20079931 20604683 20683928 21151602 21153841 21211845 21654732 21911650 23878505 24849605 24997176 25257057 25356976 25383945 25752820 26024124 26047050 26147992 26364624 26427455 26626312 26656277 26667666 26906952 27307694 28041994 28130426 28181551 28714225 28838317 29186038 29332120 29659842 29681726 29785639 29947567 30268864 30628748 30870047 30996589 31273949 31630094 31736247 31878136 31960602 32347917 32367544 33952291 35129589 20811047 23661369 27628848 31174678 33308271
2	LCA5	Lebercilin LCA5	Protein Coding	7.38	DISEASES inferred ¹⁴
3	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	7.2	DISEASES inferred ¹⁴
4	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	7.08	DISEASES inferred ¹⁴
5	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	7.07	DISEASES inferred ¹⁴
6	CEP290	Centrosomal Protein 290	Protein Coding	6.99	DISEASES inferred ¹⁴
7	RDH12	Retinol Dehydrogenase 12	Protein Coding	6.85	DISEASES inferred ¹⁴
8	RHO	Rhodopsin	Protein Coding	6.81	DISEASES inferred ¹⁴
9	RD3	RD3 Regulator Of GUCY2D	Protein Coding	6.52	DISEASES inferred ¹⁴
10	SPATA7	Spermatogenesis Associated 7	Protein Coding	6.5	DISEASES inferred ¹⁴
11	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	6.42	DISEASES inferred ¹⁴
12	TULP1	TUB Like Protein 1	Protein Coding	6.38	DISEASES inferred ¹⁴
13	MERTK	MER Proto-Oncogene, Tyrosine Kinase	Protein Coding	6.36	DISEASES inferred ¹⁴
14	CRX	Cone-Rod Homeobox	Protein Coding	6.35	DISEASES inferred ¹⁴
15	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	6.35	DISEASES inferred ¹⁴
16	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	6.28	DISEASES inferred ¹⁴

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Variations for Leber Congenital Amaurosis 2

ClinVar genetic disease variations for Leber Congenital Amaurosis 2:

⁵ (show top 50) (show all 521)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RPE65	NM_000329.3(RPE65):c.1067del (p.Asn356fs)	DEL	Pathogenic Pathogenic	98821	rs281865520	GRCh37: 1:68903931-68903931 GRCh38: 1:68438248-68438248
2	RPE65	NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)	SNV	Pathogenic Pathogenic	13114	rs61752895	GRCh37: 1:68905269-68905269 GRCh38: 1:68439586-68439586
3	RPE65	NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)	SNV	Pathogenic Pathogenic	13120	rs121917745	GRCh37: 1:68895518-68895518 GRCh38: 1:68429835-68429835
4	RPE65	NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)	SNV	Pathogenic Pathogenic	29870	rs62653011	GRCh37: 1:68903896-68903896 GRCh38: 1:68438213-68438213
5	RPE65	NM_000329.3(RPE65):c.11+5G>A	SNV	Pathogenic Pathogenic	98825	rs61751276	GRCh37: 1:68915573-68915573 GRCh38: 1:68449890-68449890
6	RPE65	NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	SNV	Pathogenic	29872	rs61752904	GRCh37: 1:68904716-68904716 GRCh38: 1:68439033-68439033
7	RPE65	NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)	SNV	Pathogenic Pathogenic	29873	rs62636300	GRCh37: 1:68897011-68897011 GRCh38: 1:68431328-68431328
8	RPE65	NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)	SNV	Pathogenic	374497	rs368088025	GRCh37: 1:68912508-68912508 GRCh38: 1:68446825-68446825
9	RPE65	NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	SNV	Pathogenic Pathogenic	98866	rs61752877	GRCh37: 1:68910339-68910339 GRCh38: 1:68444656-68444656
10	RPE65	NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	SNV	Pathogenic	467827	rs1191496583	GRCh37: 1:68910290-68910290 GRCh38: 1:68444607-68444607
11	RPE65	NM_000329.3(RPE65):c.95-2A>T	SNV	Pathogenic Pathogenic	98899	rs61751279	GRCh37: 1:68912545-68912545 GRCh38: 1:68446862-68446862
12	RPE65	NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	SNV	Pathogenic Pathogenic	98889	rs61752896	GRCh37: 1:68905254-68905254 GRCh38: 1:68439571-68439571
13	RPE65	NM_000329.3(RPE65):c.10del (p.Gln4fs)	DEL	Pathogenic	569113	rs747393487	GRCh37: 1:68915579-68915579 GRCh38: 1:68449896-68449896
14	RPE65	NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	SNV	Pathogenic Likely Pathogenic	98840	rs61751282	GRCh37: 1:68912507-68912507 GRCh38: 1:68446824-68446824
15	RPE65	NM_000329.3(RPE65):c.1067dup (p.Asn356fs)	DUP	Pathogenic Pathogenic	596673	rs281865520	GRCh37: 1:68903930-68903931 GRCh38: 1:68438247-68438248
16	RPE65	NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)	DEL	Pathogenic Pathogenic	98860	rs62642583	GRCh37: 1:68910501-68910520 GRCh38: 1:68444818-68444837
17	RPE65	NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)	SNV	Pathogenic Pathogenic	13117	rs121917744	GRCh37: 1:68903911-68903911 GRCh38: 1:68438228-68438228
18	RPE65	NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)	SNV	Pathogenic Likely Pathogenic	660359	rs774130993	GRCh37: 1:68897192-68897192 GRCh38: 1:68431509-68431509
19	RPE65	NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)	SNV	Pathogenic	98863	rs62642584	GRCh37: 1:68910508-68910508 GRCh38: 1:68444825-68444825
20	RPE65	NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)	SNV	Pathogenic	801494	rs1193631220	GRCh37: 1:68895478-68895478 GRCh38: 1:68429795-68429795
21	overlap with 2 genes	NC_000001.11:g.(?_68438187)_(68484090_?)del	DEL	Pathogenic	830561		GRCh37: 1:68903870-68949773 GRCh38:
22	RPE65	NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)	SNV	Pathogenic	838191	rs1645898563	GRCh37: 1:68906672-68906672 GRCh38: 1:68440989-68440989
23	RPE65	NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	SNV	Pathogenic Pathogenic	13118	rs61752909	GRCh37: 1:68903976-68903976 GRCh38: 1:68438293-68438293
24	RPE65	NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	SNV	Pathogenic Pathogenic	98830	rs61751281	GRCh37: 1:68912520-68912520 GRCh38: 1:68446837-68446837
25	RPE65	NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs)	INSERT	Pathogenic	848072	rs1645945978	GRCh37: 1:68912490-68912491 GRCh38: 1:68446807-68446808
26	RPE65	NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	SNV	Pathogenic Conflicting Interpretations Of Pathogenicity	559523	rs1429137932	GRCh37: 1:68912396-68912396 GRCh38: 1:68446713-68446713
27	RPE65	NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)	SNV	Pathogenic Pathogenic	98857	rs61752873	GRCh37: 1:68910540-68910540 GRCh38: 1:68444857-68444857
28	RPE65	NM_000329.3(RPE65):c.1338+1G>A	SNV	Pathogenic	374139	rs1057518922	GRCh37: 1:68896964-68896964 GRCh38: 1:68431281-68431281
29	RPE65	NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly)	SNV	Pathogenic	750796	rs1571158279	GRCh37: 1:68896768-68896768 GRCh38: 1:68431085-68431085
30	RPE65	NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)	SNV	Pathogenic Likely Pathogenic	870343	rs1645823028	GRCh37: 1:68896818-68896818 GRCh38: 1:68431135-68431135
31	RPE65	NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)	SNV	Pathogenic	937681	rs373652862	GRCh37: 1:68904986-68904986 GRCh38: 1:68439303-68439303
32	RPE65	NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	SNV	Pathogenic Likely Pathogenic	98888	rs61751277	GRCh37: 1:68914336-68914336 GRCh38: 1:68448653-68448653
33	RPE65	NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)	SNV	Pathogenic Likely Pathogenic	801497	rs752058510	GRCh37: 1:68906619-68906619 GRCh38: 1:68440936-68440936
34	RPE65	NM_000329.3(RPE65):c.726-2A>T	SNV	Pathogenic Pathogenic	952461	rs878853372	GRCh37: 1:68905008-68905008 GRCh38: 1:68439325-68439325
35	RPE65	NM_000329.3(RPE65):c.893del (p.Lys298fs)	DEL	Pathogenic	372493	rs61752902	GRCh37: 1:68904730-68904730 GRCh38: 1:68439047-68439047
36	RPE65	NM_000329.3(RPE65):c.829_833del (p.Asp277fs)	DEL	Pathogenic	955219	rs1645882447	GRCh37: 1:68904899-68904903 GRCh38: 1:68439216-68439220
37	RPE65	NM_000329.3(RPE65):c.962dup (p.Asn321fs)	DUP	Pathogenic	98902	rs61752906	GRCh37: 1:68904660-68904661 GRCh38: 1:68438977-68438978
38	RPE65	NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	SNV	Pathogenic Likely Pathogenic	98873	rs61752883	GRCh37: 1:68906680-68906680 GRCh38: 1:68440997-68440997
39	RPE65	NM_000329.3(RPE65):c.421G>T (p.Glu141Ter)	SNV	Pathogenic	970047	rs1469460289	GRCh37: 1:68910288-68910288 GRCh38: 1:68444605-68444605
40	RPE65	NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	SNV	Pathogenic	427864	rs1420672586	GRCh37: 1:68896965-68896965 GRCh38: 1:68431282-68431282
41	RPE65	NM_000329.3(RPE65):c.706A>T (p.Lys236Ter)	SNV	Pathogenic Pathogenic	973963	rs1645885900	GRCh37: 1:68905263-68905263 GRCh38: 1:68439580-68439580
42	RPE65	NM_000329.3(RPE65):c.615_616del (p.Ile206fs)	DEL	Pathogenic Pathogenic	98880	rs61752888	GRCh37: 1:68906563-68906564 GRCh38: 1:68440880-68440881
43	RPE65	NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs)	INSERT	Pathogenic	973964	rs1645826120	GRCh37: 1:68897187-68897188 GRCh38: 1:68431504-68431505
44	RPE65	NM_000329.3(RPE65):c.858+1G>A	SNV	Pathogenic Pathogenic	98892	rs61752899	GRCh37: 1:68904873-68904873 GRCh38: 1:68439190-68439190
45	RPE65	NM_000329.3(RPE65):c.440_441del (p.Thr147fs)	MICROSAT	Pathogenic Pathogenic	973965	rs1201299067	GRCh37: 1:68910268-68910269 GRCh38: 1:68444585-68444586
46	RPE65	NM_000329.3(RPE65):c.1596dup (p.Ser533fs)	DUP	Pathogenic	973968	rs1645806893	GRCh37: 1:68895464-68895465 GRCh38: 1:68429781-68429782
47	RPE65	NM_000329.2:c.1_1602del	DEL	Pathogenic	973969		GRCh37: GRCh38:
48	RPE65	NM_000329.3(RPE65):c.200T>G (p.Leu67Arg)	SNV	Pathogenic	1068757		GRCh37: 1:68912438-68912438 GRCh38: 1:68446755-68446755
49	RPE65	NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)	SNV	Pathogenic	1068758		GRCh37: 1:68914307-68914307 GRCh38: 1:68448624-68448624
50	RPE65	NM_000329.3(RPE65):c.943_950del (p.Ile315fs)	DEL	Pathogenic	1069087		GRCh37: 1:68904673-68904680 GRCh38: 1:68438990-68438997

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 2:

⁷³ (show all 29)

#	Symbol	AA change	Variation ID	SNP ID
1	RPE65	p.Leu22Pro	VAR_017126	rs61751277
2	RPE65	p.Gly40Ser	VAR_017127	rs61751281
3	RPE65	p.Arg44Gln	VAR_017128	rs61751282
4	RPE65	p.His68Tyr	VAR_017129	rs61752866
5	RPE65	p.Arg91Trp	VAR_017130	rs61752871
6	RPE65	p.Arg91Gln	VAR_017131	rs61752873
7	RPE65	p.Tyr144Asp	VAR_017133	rs61752880
8	RPE65	p.His182Tyr	VAR_017134	rs61752884
9	RPE65	p.Val287Phe	VAR_017135	rs281865289
10	RPE65	p.Pro363Thr	VAR_017138	rs121917744
11	RPE65	p.Ala393Gly	VAR_017140	rs62635773
12	RPE65	p.Glu417Gln	VAR_017141	rs62636299
13	RPE65	p.Tyr431Cys	VAR_018151	rs62636300
14	RPE65	p.Glu102Lys	VAR_060812	rs62642584
15	RPE65	p.Glu148Asp	VAR_060813	rs61752882
16	RPE65	p.Asp167Tyr	VAR_060814	rs61752883
17	RPE65	p.His182Asn	VAR_060815	rs61752884
18	RPE65	p.Tyr239Asp	VAR_060816	rs61752896
19	RPE65	p.Cys330Tyr	VAR_060818	rs61752908
20	RPE65	p.Ala393Glu	VAR_060819
21	RPE65	p.Tyr435Cys	VAR_060820	rs62636302
22	RPE65	p.Pro470Leu	VAR_060822	rs774211361
23	RPE65	p.Phe70Val	VAR_067160
24	RPE65	p.Arg91Pro	VAR_067161	rs61752873
25	RPE65	p.His313Arg	VAR_067163	rs1375943362
26	RPE65	p.Gly40Asp	VAR_081684
27	RPE65	p.Thr101Ile	VAR_083292	rs1444234037
28	RPE65	p.Tyr318Asn	VAR_083295	rs61752905
29	RPE65	p.Leu408Pro	VAR_083297	rs62636298

Sources

Expression for Leber Congenital Amaurosis 2

Search GEO for disease gene expression data for Leber Congenital Amaurosis 2.

Sources

Pathways for Leber Congenital Amaurosis 2

Pathways related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Visual phototransduction ⁶⁶ Show member pathways Activation of the phototransduction cascade ⁶⁶ Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D) ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ menaquinol-4 biosynthesis II ⁶¹ Metabolism of fat-soluble vitamins ⁶⁶ Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ retinol biosynthesis ⁶¹ The phototransduction cascade ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ the visual cycle I (vertebrates) ⁶¹ Visual signal transduction: Rods ⁶¹ Vitamin E ⁶⁶	12.34	RPE65 RHO RDH12 LRAT GUCY2D
2	Ciliary landscape ⁷⁴	12.08	SPATA7 RPGR LCA5 CEP290
3	Bardet-Biedl syndrome ⁷⁴ Show member pathways Genes related to primary cilium development (based on CRISPR) ⁷⁴	11.79	LCA5 CRX CEP290
4	Ciliopathies ⁷⁴	11.6	TULP1 SPATA7 LCA5 CRX CEP290
5	Diseases of the neuronal system ⁶⁶ Show member pathways Biosynthesis of A2E, implicated in retinal degradation ⁶⁶ Diseases associated with visual transduction ⁶⁶ Retinoid cycle disease events ⁶⁶ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.46	LRAT RDH12 RHO RPE65
6	Visual Cycle in Retinal Rods ⁶⁴	11.41	RPE65 RHO RDH12 LRAT GUCY2D CNGB3
7	Vitamin A and carotenoid metabolism ⁷⁴	11.23	RPE65 RDH12 LRAT
8	Retinol metabolism (TR) ²² Show member pathways Ifosfamide Pathway, Pharmacokinetics ⁶⁰	11.21	RPE65 RHO RDH12 LRAT
9	Retinol metabolism (WikiPathways) ⁷⁴	10.8	RPE65 RDH12 LRAT
10	Visual signal transduction: Cones ⁶¹	10.38	RPE65 RDH12 LRAT GUCY2D CNGB3

Sources

GO Terms for Leber Congenital Amaurosis 2

Cellular components related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	ciliary basal body	GO:0036064	10.01	SPATA7 RPGR LCA5 CEP290
2	photoreceptor connecting cilium	GO:0032391	9.85	SPATA7 LCA5 CEP290
3	cell projection	GO:0042995	9.85	CEP290 CRB1 GUCY2D LCA5 RD3 RHO
4	photoreceptor outer segment membrane	GO:0042622	9.73	RHO GUCY2D
5	rod photoreceptor outer segment	GO:0120200	9.73	SPATA7 RHO RD3
6	photoreceptor inner segment	GO:0001917	9.73	TULP1 RHO RDH12 RD3 CRB1 AIPL1
7	photoreceptor inner segment membrane	GO:0060342	9.62	RHO RDH12
8	photoreceptor outer segment	GO:0001750	9.55	TULP1 SPATA7 RPGR RHO RD3 MERTK

Biological processes related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	retinol metabolic process	GO:0042572	9.97	RPE65 RDH12 LRAT
2	retina development in camera-type eye	GO:0060041	9.96	CRB1 MERTK RD3 RHO RPE65 TULP1
3	photoreceptor cell maintenance	GO:0045494	9.93	TULP1 SPATA7 RHO RDH12 LCA5 CRB1
4	retina homeostasis	GO:0001895	9.91	AIPL1 RPE65 TULP1
5	retinoid metabolic process	GO:0001523	9.88	RPE65 RDH12 LRAT
6	response to stimulus	GO:0050896	9.86	AIPL1 CNGB3 CRX GUCY2D LRAT RD3
7	cellular response to light stimulus	GO:0071482	9.85	RHO CRB1
8	detection of light stimulus involved in visual perception	GO:0050908	9.85	TULP1 RPE65 CRB1
9	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.83	GUCY2D AIPL1
10	phototransduction, visible light	GO:0007603	9.81	RHO AIPL1
11	eye photoreceptor cell development	GO:0042462	9.8	TULP1 CRB1 CEP290
12	protein localization to photoreceptor outer segment	GO:1903546	9.78	TULP1 SPATA7
13	vitamin A metabolic process	GO:0006776	9.76	RPE65 LRAT
14	visual perception	GO:0007601	9.72	TULP1 SPATA7 RPGR RPE65 RHO RDH12
15	retina morphogenesis in camera-type eye	GO:0060042	9.71	RPE65 CRB1

Sources

Sources for Leber Congenital Amaurosis 2

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

LCA2 MCID: LBR012 MIFTS: 53	Leber Congenital Amaurosis 2 (LCA2) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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Leber Congenital Amaurosis 2 (LCA2)

Aliases & Classifications for Leber Congenital Amaurosis 2

MalaCards integrated aliases for Leber Congenital Amaurosis 2:

Characteristics:

Inheritance:

OMIM®:

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Summaries for Leber Congenital Amaurosis 2

Related Diseases for Leber Congenital Amaurosis 2

Diseases in the Leber Congenital Amaurosis 4 family:

Diseases related to Leber Congenital Amaurosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 2:

Symptoms & Phenotypes for Leber Congenital Amaurosis 2

Human phenotypes related to Leber Congenital Amaurosis 2:

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ClinVar genetic disease variations for Leber Congenital Amaurosis 2:

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 2:

Expression for Leber Congenital Amaurosis 2

Pathways for Leber Congenital Amaurosis 2

Pathways related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

GO Terms for Leber Congenital Amaurosis 2

Cellular components related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

Biological processes related to Leber Congenital Amaurosis 2 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 2