Leber Congenital Amaurosis 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LCA1 MCID: LBR004 MIFTS: 53	Leber Congenital Amaurosis 1 (LCA1) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Leber Congenital Amaurosis 1

MalaCards integrated aliases for Leber Congenital Amaurosis 1:

Name: Leber Congenital Amaurosis 1 ⁵⁷ ¹² ²⁰ ⁷² ²⁹ ¹³ ⁶ ¹⁵

Lca1 ⁵⁷ ¹² ²⁰ ⁷²

Amaurosis Congenita of Leber, Type 1 ⁷³ ²⁰ ⁷⁰

Amaurosis Congenita of Leber I ⁵⁷ ¹²

Retinal Blindness, Congenital ⁵⁷ ²⁰

Crb ⁵⁷ ²⁰

Retinal Blindness, Congenital; Crb ⁵⁷

Leber Congenital Amaurosis, Type 1 ³⁹

Leber Congenital Amaurosis Type 1 ²⁰

Leber Congenital Amaurosis Type I ⁷²

Lca ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

HPO:

³¹

leber congenital amaurosis 1:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

Disease Ontology ¹² DOID:0110078

OMIM® ⁵⁷ 204000

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴⁴ D057130

ICD10 ³² H35.5

MedGen ⁴¹ C2931258 CN034165

UMLS ⁷⁰ C2931258

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Summaries for Leber Congenital Amaurosis 1

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). (204000) (Updated 20-May-2021)

MalaCards based summary : Leber Congenital Amaurosis 1, also known as lca1, is related to leber congenital amaurosis / early-onset severe retinal dystrophy and leber congenital amaurosis 14, and has symptoms including photophobia An important gene associated with Leber Congenital Amaurosis 1 is GUCY2D (Guanylate Cyclase 2D, Retinal), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye, retina and bone marrow, and related phenotypes are intellectual disability and nystagmus

Disease Ontology : ¹² A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has material basis in mutation in the GUCY2D gene on chromosome 17p13.

UniProtKB/Swiss-Prot : ⁷² Leber congenital amaurosis 1: 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.

Wikipedia : ⁷³ 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 1

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

(show top 50) (show all 148)

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis / early-onset severe retinal dystrophy	32.0	RPE65 CEP290 AIPL1
2	leber congenital amaurosis 14	31.7	SPATA7 RDH12 LRAT LCA5 AIPL1
3	leber congenital amaurosis 11	31.6	SPATA7 RDH12 LCA5 IMPDH1 AIPL1
4	leber congenital amaurosis 15	31.6	TULP1 SPATA7 RDH12 RD3 LCA5 IMPDH1
5	leber congenital amaurosis 7	31.5	SPATA7 RDH12 LCA5 IMPDH1 GUCY2D CRX
6	senior-loken syndrome 1	31.4	TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
7	leber congenital amaurosis 8	31.3	TULP1 SPATA7 RPE65 RDH12 LCA5 IMPDH1
8	leber congenital amaurosis 6	31.2	TULP1 SPATA7 RPGRIP1 RDH12 LCA5 IMPDH1
9	leber congenital amaurosis 2	31.1	TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
10	leber congenital amaurosis 9	31.1	TULP1 SPATA7 RPE65 RDH12 LRAT LCA5
11	leber congenital amaurosis 10	31.0	TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
12	leber congenital amaurosis 4	30.9	TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
13	leber congenital amaurosis 3	30.9	TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
14	yemenite deaf-blind hypopigmentation syndrome	30.7	RPE65 GUCY2D CEP290 AIPL1
15	cone-rod dystrophy 6	30.4	RPGRIP1 RPE65 RD3 GUCY2F GUCY2D GUCA1B
16	retinitis	30.3	RPGRIP1 RPE65 RP1 IMPDH1 CRB1
17	leber congenital amaurosis 5	30.3	TULP1 SPATA7 RPGRIP1 RDH12 RD3 LRAT
18	nephronophthisis	30.2	SPATA7 RPGRIP1 LCA5 CEP290
19	retinitis pigmentosa 20	30.2	RPE65 LRAT
20	vitelliform macular dystrophy	30.2	RPE65 GUCY2D CRX CRB1
21	night blindness	30.0	RPE65 LRAT GUCY2D GRK1 CRB1 CEP290
22	leber congenital amaurosis 13	29.9	TULP1 SPATA7 RPGRIP1 RDH12 LCA5 CEP290
23	retinal disease	29.7	TULP1 RPGRIP1 RPE65 RDH12 LRAT IMPDH1
24	coloboma of macula	29.7	CRX CRB1 CEP290
25	leber plus disease	29.6	TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
26	pathologic nystagmus	29.6	TULP1 SPATA7 RPGRIP1 RPE65 RDH12 LCA5
27	retinal degeneration	29.4	TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
28	congenital stationary night blindness	29.4	TULP1 RPGRIP1 RPE65 RDH12 RD3 LRAT
29	joubert syndrome 1	29.2	TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
30	retinitis pigmentosa	29.1	TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
31	fundus dystrophy	29.1	TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
32	cone-rod dystrophy 2	29.1	TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
33	cone dystrophy	28.9	TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
34	littoral cell angioma of the spleen	11.3
35	arima syndrome	11.0
36	rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy	11.0
37	congenital muscular dystrophy with cerebellar involvement	11.0
38	anomalous left coronary artery from the pulmonary artery	10.9
39	nystagmus 1, congenital, x-linked	10.9
40	senior-loken syndrome 5	10.9
41	leber congenital amaurosis 19	10.9
42	pneumonia	10.5
43	cone-rod dystrophy 17	10.4	GUCY2D AIPL1
44	retinitis pigmentosa 34	10.4	RPGRIP1 CRX
45	optic disk drusen	10.4	RPGRIP1 CRB1
46	solar retinopathy	10.4	RDH12 CRB1
47	cone-rod dystrophy 8	10.4	LCA5 GUCY2D AIPL1
48	retinitis pigmentosa 63	10.4	SPATA7 CRX
49	chorioretinal scar	10.4	RDH12 CRB1
50	macular dystrophy, dominant cystoid	10.4	TULP1 RPE65 CRB1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 1:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 1

Human phenotypes related to Leber Congenital Amaurosis 1:

³¹ (show all 15)

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	nystagmus ³¹	HP:0000639
3	cataract ³¹	HP:0000518
4	hepatomegaly ³¹	HP:0002240
5	sensorineural hearing impairment ³¹	HP:0000407
6	blindness ³¹	HP:0000618
7	photophobia ³¹	HP:0000613
8	growth delay ³¹	HP:0001510
9	keratoconus ³¹	HP:0000563
10	pigmentary retinopathy ³¹	HP:0000580
11	fundus atrophy ³¹	HP:0001099
12	hyperthreoninemia ³¹	HP:0003354
13	decreased light- and dark-adapted electroretinogram amplitude ³¹	HP:0000654
14	eye poking ³¹	HP:0001483
15	hyperthreoninuria ³¹	HP:0003296

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Head And Neck Eyes:
nystagmus
cataract
blindness
photophobia
keratoconus
more

Laboratory Abnormalities:
hyperthreoninemia
hyperthreoninuria

Growth Other:
retarded growth

Abdomen Liver:
hepatomegaly

Neurologic Central Nervous System:
mental retardation

Head And Neck Ears:
sensory hearing loss

Clinical features from OMIM®:

204000 (Updated 20-May-2021)

UMLS symptoms related to Leber Congenital Amaurosis 1:

photophobia

GenomeRNAi Phenotypes related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

²⁶ (show all 15)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-1	10.17	GUCY2D
2	Decreased viability	GR00055-A-2	10.17	GUCY2D
3	Decreased viability	GR00221-A-1	10.17	GRK1 GUCY2D RPGRIP1
4	Decreased viability	GR00221-A-2	10.17	GUCY2D RPGRIP1
5	Decreased viability	GR00221-A-3	10.17	GUCY2D
6	Decreased viability	GR00221-A-4	10.17	GUCY2D RPGRIP1
7	Decreased viability	GR00240-S-1	10.17	GUCY2D
8	Decreased viability	GR00249-S	10.17	CRX GUCY2D
9	Decreased viability	GR00301-A	10.17	GRK1 RPGRIP1
10	Decreased viability	GR00342-S-1	10.17	GRK1
11	Decreased viability	GR00342-S-2	10.17	GRK1
12	Decreased viability	GR00381-A-1	10.17	GUCA1A LRAT RPGRIP1
13	Decreased viability	GR00386-A-1	10.17	CRX GUCA1A GUCA1B GUCY2D IMPDH1 LCA5
14	Decreased viability	GR00402-S-2	10.17	GRK1 GUCY2D LCA5 RDH12 SPATA7
15	Increased the percentage of infected cells	GR00402-S-1	8.32	RDH12

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.11	AIPL1 CEP290 CRB1 CRX GRK1 GUCA1A
2	vision/eye	MP:0005391	9.62	AIPL1 CEP290 CRB1 CRX GRK1 GUCA1A
3	pigmentation	MP:0001186	9.5	CEP290 CRB1 CRX LCA5 PROM1 RPE65

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Drugs & Therapeutics for Leber Congenital Amaurosis 1

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 1

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Genetic Tests for Leber Congenital Amaurosis 1

Genetic tests related to Leber Congenital Amaurosis 1:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 1 ²⁹	GUCY2D

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Anatomical Context for Leber Congenital Amaurosis 1

MalaCards organs/tissues related to Leber Congenital Amaurosis 1:

⁴⁰

Eye, Retina, Bone Marrow, Lung, Pineal, Bone, Spleen

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Publications for Leber Congenital Amaurosis 1

Articles related to Leber Congenital Amaurosis 1:

(show top 50) (show all 118)

#	Title	Authors	PMID	Year
1	Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. ⁶¹ ⁶ ⁵⁷	Jacobson SG...Dizhoor AM	23035049	2013
2	Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. ⁶¹ ⁶ ⁵⁷	Perrault I...Kaplan J	8944027	1996
3	Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. ⁵⁷ ⁶	Khan AO...Bolz HJ	24997176	2014
4	Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. ⁵⁷ ⁶	Yzer S...Cremers FP	16505055	2006
5	Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. ⁵⁷ ⁶	Zernant J...Allikmets R	16123401	2005
6	Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. ⁶ ⁵⁷	Hanein S...Kaplan J	15024725	2004
7	Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. ⁵⁷ ⁶	Hanein S...Kaplan J	12325031	2002
8	Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. ⁶ ⁶¹	Zulliger R...Azadi S	25477517	2015
9	Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). ⁶¹ ⁶	Rozet JM...Kaplan J	11328726	2001
10	Spectrum of retGC1 mutations in Leber's congenital amaurosis. ⁶ ⁶¹	Perrault I...Kaplan J	10951519	2000
11	Leber congenital amaurosis. ⁶¹ ⁵⁷	Perrault I...Kaplan J	10527670	1999
12	Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. ⁶ ⁶¹	Duda T...Sharma RK	9888789	1999
13	Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. ⁵⁷ ⁶¹	Camuzat A...Kaplan J	8641699	1996
14	A gene for Leber's congenital amaurosis maps to chromosome 17p. ⁶¹ ⁵⁷	Camuzat A...Leowski C	7581387	1995
15	Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. ⁶	Maggi J...Berger W	33546218	2021
16	Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. ⁶	Stunkel ML...Drack AV	29559409	2018
17	Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. ⁶	Sharon D...Koch KW	29061346	2018
18	Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. ⁶	Srikrupa NN...Soumittra N	29068479	2018
19	Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria. ⁶	Ji S...Schrauder M	29178942	2017
20	The genetic profile of Leber congenital amaurosis in an Australian cohort. ⁶	Thompson JA...Lamey TM	29178642	2017
21	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁶	Carss KJ...Raymond FL	28041643	2017
22	Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. ⁶	Wang S...Zhao P	27422788	2016
23	Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. ⁶	Astuti GD...Cremers FP	26626312	2016
24	Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. ⁶	Patel N...Alkuraya FS	26355662	2016
25	Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy. ⁶	Safieh LA...Kozak I	26957854	2016
26	GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies. ⁶	Jiang F...Li Y	26298565	2015
27	Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast. ⁶	Roman AJ...Jacobson SG	26253563	2015
28	Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. ⁶	Wang H...Sui R	26047050	2015
29	GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? ⁶	Zobor D...Jagle H	24875811	2014
30	Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. ⁶	Wang X...Chen R	23847139	2013
31	IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. ⁶	Schorderet DF...Escher P	23484092	2013
32	Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. ⁵⁷	Wiszniewski W...Lupski JR	21153841	2011
33	Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. ⁶	Li L...Hejtmancik JF	21602930	2011
34	Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. ⁶	Coppieters F...De Baere E	20683928	2010
35	Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations. ⁶	Peshenko IV...Dizhoor AM	20050595	2010
36	Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. ⁵⁷	Chung DC...Traboulsi EI	20006823	2009
37	A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. ⁵⁷	Khanna H...Katsanis N	19430481	2009
38	Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. ⁶	Stone EM	17964524	2007
39	An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. ⁶	Henderson RH...Moore AT	18055820	2007
40	Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. ⁶	Simonelli F...Banfi S	17724218	2007
41	Evaluation of genotype-phenotype associations in leber congenital amaurosis. ⁶	Galvin JA...Koenekoop RK	16205573	2005
42	Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. ⁶	Ito S...Miyake Y	15175914	2004
43	Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. ⁵⁷	Milam AH...Jacobson SG	12623820	2003
44	Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. ⁶	Udar N...Small KW	12552567	2003
45	Molecular genetics of Leber congenital amaurosis. ⁵⁷	Cremers FP...den Hollander AI	12015276	2002
46	Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. ⁶	Wilkie SE...Hunt DM	11115851	2000
47	Mutation analysis of 3 genes in patients with Leber congenital amaurosis. ⁶	Lotery AJ...Stone EM	10766140	2000
48	Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. ⁵⁷	Sohocki MM...Daiger SP	10615133	2000
49	A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan. ⁶	El-Shanti H...Stone EM	10636733	1999
50	Mental retardation in amaurosis congenita of Leber. ⁵⁷	Schuil J...Delleman JW	10029347	1998

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Genes for Leber Congenital Amaurosis 1

Genes related to Leber Congenital Amaurosis 1 (7 elite genes):

(show all 42)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	1365.18	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	9683616 9888789 16505055 (more) 29061346 8944027
2	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	440.6	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	TULP1	TUB Like Protein 1	Protein Coding	439.84	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	29178942
4	CRX	Cone-Rod Homeobox	Protein Coding	439.62	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
5	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	439.25	Pathogenic ⁶ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
6	LCA5	Lebercilin LCA5	Protein Coding	415.5	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
7	PROM1	Prominin 1	Protein Coding	407.54	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
8	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	39.23	Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
9	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	14.96	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
10	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	7.95	DISEASES inferred ¹⁵
11	GUCY2F	Guanylate Cyclase 2F, Retinal	Protein Coding	7.92	DISEASES inferred ¹⁵
12	RD3	RD3 Regulator Of GUCY2D	Protein Coding	7.87	DISEASES inferred ¹⁵
13	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	7.27	DISEASES inferred ¹⁵
14	RP1	RP1 Axonemal Microtubule Associated	Protein Coding	7.2	GeneCards inferred via : Variants (show sections)
15	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	7.05	DISEASES inferred ¹⁵
16	GUCA1B	Guanylate Cyclase Activator 1B	Protein Coding	6.98	DISEASES inferred ¹⁵
17	SPATA7	Spermatogenesis Associated 7	Protein Coding	6.96	DISEASES inferred ¹⁵
18	RDH12	Retinol Dehydrogenase 12	Protein Coding	6.92	DISEASES inferred ¹⁵
19	CEP290	Centrosomal Protein 290	Protein Coding	6.73	DISEASES inferred ¹⁵
20	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	6.49	DISEASES inferred ¹⁵
21	GRK7	G Protein-Coupled Receptor Kinase 7	Protein Coding	6.1	DISEASES inferred ¹⁵
22	ARR3	Arrestin 3	Protein Coding	6.05	DISEASES inferred ¹⁵
23	DNAJC6	DnaJ Heat Shock Protein Family (Hsp40) Member C6	Protein Coding	6.02	DISEASES inferred ¹⁵
24	IQCB1	IQ Motif Containing B1	Protein Coding	6.02	DISEASES inferred ¹⁵
25	GUCA2A	Guanylate Cyclase Activator 2A	Protein Coding	5.72	DISEASES inferred ¹⁵
26	MERTK	MER Proto-Oncogene, Tyrosine Kinase	Protein Coding	5.68	DISEASES inferred ¹⁵
27	NCALD	Neurocalcin Delta	Protein Coding	5.68	DISEASES inferred ¹⁵
28	KCNJ13	Potassium Inwardly Rectifying Channel Subfamily J Member 13	Protein Coding	5.66	DISEASES inferred ¹⁵
29	RHO	Rhodopsin	Protein Coding	5.58	DISEASES inferred ¹⁵
30	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	5.57	DISEASES inferred ¹⁵
31	GUCA1C	Guanylate Cyclase Activator 1C	Protein Coding	5.54	DISEASES inferred ¹⁵
32	RD3L	RD3 Like	Protein Coding	5.48	DISEASES inferred ¹⁵
33	FAM120C	Family With Sequence Similarity 120C	Protein Coding	5.41	DISEASES inferred ¹⁵
34	NMNAT1	Nicotinamide Nucleotide Adenylyltransferase 1	Protein Coding	5.33	DISEASES inferred ¹⁵
35	CLUAP1	Clusterin Associated Protein 1	Protein Coding	5.3	DISEASES inferred ¹⁵
36	GUF1	GTP Binding Elongation Factor GUF1	Protein Coding	5.29	DISEASES inferred ¹⁵
37	CLTB	Clathrin Light Chain B	Protein Coding	5.2	DISEASES inferred ¹⁵
38	CNGA1	Cyclic Nucleotide Gated Channel Subunit Alpha 1	Protein Coding	5.18	DISEASES inferred ¹⁵
39	PRPH2	Peripherin 2	Protein Coding	5.17	DISEASES inferred ¹⁵
40	GCDH	Glutaryl-CoA Dehydrogenase	Protein Coding	5.16	DISEASES inferred ¹⁵
41	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	5.16	DISEASES inferred ¹⁵
42	GPAT2	Glycerol-3-Phosphate Acyltransferase 2, Mitochondrial	Protein Coding	5.13	DISEASES inferred ¹⁵

Sources

Variations for Leber Congenital Amaurosis 1

ClinVar genetic disease variations for Leber Congenital Amaurosis 1:

⁶ (show top 50) (show all 381)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GUCY2D	NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)	SNV	Pathogenic	9350	rs61749755	GRCh37: 17:7912849-7912849 GRCh38: 17:8009531-8009531
2	GUCY2D	NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	Deletion	Pathogenic	98602	rs61749670	GRCh37: 17:7906752-7906752 GRCh38: 17:8003434-8003434
3	GUCY2D	NM_000180.4(GUCY2D):c.622del (p.Arg208fs)	Deletion	Pathogenic	98607	rs61749671	GRCh37: 17:7906985-7906985 GRCh38: 17:8003667-8003667
4	GUCY2D	GUCY2D, 1-BP DEL, 2943G	Deletion	Pathogenic	9358		GRCh37: GRCh38:
5	GUCY2D	NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs)	Duplication	Pathogenic	65572	rs386834239	GRCh37: 17:7919766-7919767 GRCh38: 17:8016448-8016449
6	GUCY2D	NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	SNV	Pathogenic	98563	rs61750168	GRCh37: 17:7917236-7917236 GRCh38: 17:8013918-8013918
7	GUCY2D	NM_000180.4(GUCY2D):c.2377del (p.Glu793fs)	Deletion	Pathogenic	471236	rs1555635668	GRCh37: 17:7917310-7917310 GRCh38: 17:8013992-8013992
8	GUCY2D	NM_000180.4(GUCY2D):c.2114-27_2263+18del	Deletion	Pathogenic	430835	rs1555635550	GRCh37: 17:7916391-7916585 GRCh38: 17:8013073-8013267
9	TULP1	NM_003322.6(TULP1):c.524dup (p.Pro176fs)	Duplication	Pathogenic	547179	rs1327062642	GRCh37: 6:35477680-35477681 GRCh38: 6:35509903-35509904
10	GUCY2D	NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)	SNV	Pathogenic	497765	rs1555635778	GRCh37: 17:7918069-7918069 GRCh38: 17:8014751-8014751
11	GUCY2D	NM_000180.4(GUCY2D):c.3224+1G>C	SNV	Pathogenic	581095	rs757823463	GRCh37: 17:7919609-7919609 GRCh38: 17:8016291-8016291
12	GUCY2D	NC_000017.11:g.(?_8002902)_(8016550_?)del	Deletion	Pathogenic	584235		GRCh37: 17:7906220-7919868 GRCh38: 17:8002902-8016550
13	GUCY2D	NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)	SNV	Pathogenic	587413	rs1006935198	GRCh37: 17:7918366-7918366 GRCh38: 17:8015048-8015048
14	GUCY2D	NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)	SNV	Pathogenic	560463	rs750889782	GRCh37: 17:7917237-7917237 GRCh38: 17:8013919-8013919
15	GUCY2D	NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	Deletion	Pathogenic	98602	rs61749670	GRCh37: 17:7906752-7906752 GRCh38: 17:8003434-8003434
16	GUCY2D	NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	SNV	Pathogenic	98563	rs61750168	GRCh37: 17:7917236-7917236 GRCh38: 17:8013918-8013918
17	GUCY2D	NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter)	SNV	Pathogenic	638494	rs748798324	GRCh37: 17:7910841-7910841 GRCh38: 17:8007523-8007523
18	GUCY2D	NM_000180.4(GUCY2D):c.914del (p.His305fs)	Deletion	Pathogenic	642720	rs1598144694	GRCh37: 17:7907362-7907362 GRCh38: 17:8004044-8004044
19	GUCY2D	NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp)	SNV	Pathogenic	98563	rs61750168	GRCh37: 17:7917236-7917236 GRCh38: 17:8013918-8013918
20	GUCY2D	NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)	SNV	Pathogenic	689384	rs1290420698	GRCh37: 17:7911315-7911315 GRCh38: 17:8007997-8007997
21	PROM1	NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs)	Deletion	Pathogenic	694037	rs1300041533	GRCh37: 4:15993904-15993905 GRCh38: 4:15992281-15992282
22	PROM1	NM_006017.3(PROM1):c.139del (p.His47fs)	Deletion	Pathogenic	694038	rs747512450	GRCh37: 4:16077391-16077391 GRCh38: 4:16075768-16075768
23	TULP1	NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)	SNV	Pathogenic	802207	rs773968778	GRCh37: 6:35466173-35466173 GRCh38: 6:35498396-35498396
24	TULP1	NM_003322.6(TULP1):c.1388del (p.Asn463fs)	Deletion	Pathogenic	802208	rs1581736024	GRCh37: 6:35467865-35467865 GRCh38: 6:35500088-35500088
25	LCA5	NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)	SNV	Pathogenic	802243	rs1178243254	GRCh37: 6:80202268-80202268 GRCh38: 6:79492551-79492551
26	RPGRIP1	NM_020366.3(RPGRIP1):c.800+1G>A	SNV	Pathogenic	803002	rs376500610	GRCh37: 14:21771703-21771703 GRCh38: 14:21303544-21303544
27	RPGRIP1	NM_020366.3(RPGRIP1):c.2759_2760insT (p.Gln920fs)	Insertion	Pathogenic	803005	rs61751270	GRCh37: 14:21795830-21795831 GRCh38: 14:21327671-21327672
28	RPGRIP1	NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter)	SNV	Pathogenic	438163	rs780667159	GRCh37: 14:21796628-21796628 GRCh38: 14:21328469-21328469
29	GUCY2D	NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)	SNV	Pathogenic	98540	rs61749679	GRCh37: 17:7909997-7909997 GRCh38: 17:8006679-8006679
30	CRX	NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)	Deletion	Pathogenic	803571	rs1599991611	GRCh37: 19:48342824-48342825 GRCh38: 19:47839567-47839568
31	GUCY2D	NM_000180.4(GUCY2D):c.1978C>T (p.Arg660Ter)	SNV	Pathogenic	98554	rs61750161	GRCh37: 17:7915789-7915789 GRCh38: 17:8012471-8012471
32	GUCY2D	NM_000180.4(GUCY2D):c.2988C>G (p.Tyr996Ter)	SNV	Pathogenic	851765		GRCh37: 17:7919104-7919104 GRCh38: 17:8015786-8015786
33	GUCY2D	NM_000180.4(GUCY2D):c.1573C>T (p.Gln525Ter)	SNV	Pathogenic	861650		GRCh37: 17:7911255-7911255 GRCh38: 17:8007937-8007937
34	GUCY2D	NM_000180.4(GUCY2D):c.2595del (p.Lys866fs)	Deletion	Pathogenic	861651		GRCh37: 17:7918195-7918195 GRCh38: 17:8014877-8014877
35	GUCY2D	NM_000180.4(GUCY2D):c.3065T>A (p.Leu1022Ter)	SNV	Pathogenic	864510		GRCh37: 17:7919266-7919266 GRCh38: 17:8015948-8015948
36	CRB1	NM_201253.3(CRB1):c.3460_3461TG[1] (p.Cys1154_Glu1155delinsTer)	Microsatellite	Pathogenic	801600	rs1571557864	GRCh37: 1:197404453-197404454 GRCh38: 1:197435323-197435324
37	CRB1	NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)	SNV	Pathogenic	427863	rs62645747	GRCh37: 1:197398744-197398744 GRCh38: 1:197429614-197429614
38	CRB1	NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)	Deletion	Pathogenic	801599	rs745348555	GRCh37: 1:197396986-197396992 GRCh38: 1:197427856-197427862
39	CRB1	NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	SNV	Pathogenic	372352	rs116471343	GRCh37: 1:197396961-197396961 GRCh38: 1:197427831-197427831
40	CRB1	NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)	Duplication	Pathogenic	801596	rs1571523319	GRCh37: 1:197390412-197390413 GRCh38: 1:197421282-197421283
41	CRB1	NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)	SNV	Pathogenic	801594	rs1571878277	GRCh37: 1:197316605-197316605 GRCh38: 1:197347475-197347475
42	CRB1	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	Deletion	Pathogenic	99913	rs62645752	GRCh37: 1:197298091-197298097 GRCh38: 1:197328961-197328967
43	CRB1	NM_201253.3(CRB1):c.281_282del (p.Phe94fs)	Deletion	Pathogenic	801590	rs1571848166	GRCh37: 1:197297761-197297762 GRCh38: 1:197328631-197328632
44	GUCY2D	NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)	Deletion	Pathogenic	938393		GRCh37: 17:7918022-7918022 GRCh38: 17:8014704-8014704
45	GUCY2D	NM_000180.4(GUCY2D):c.2395_2398dup (p.His800fs)	Duplication	Pathogenic	939554		GRCh37: 17:7917328-7917329 GRCh38: 17:8014010-8014011
46	GUCY2D	NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)	SNV	Pathogenic	9357	rs61750173	GRCh37: 17:7918019-7918019 GRCh38: 17:8014701-8014701
47	GUCY2D	NM_000180.4(GUCY2D):c.926_939del (p.Leu309fs)	Deletion	Pathogenic	957347		GRCh37: 17:7907372-7907385 GRCh38: 17:8004054-8004067
48	GUCY2D	NM_000180.4(GUCY2D):c.65G>A (p.Trp22Ter)	SNV	Pathogenic	961067		GRCh37: 17:7906430-7906430 GRCh38: 17:8003112-8003112
49	GUCY2D	NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)	SNV	Pathogenic	961926		GRCh37: 17:7911264-7911264 GRCh38: 17:8007946-8007946
50	GUCY2D	NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)	SNV	Pathogenic	98585	rs281865408	GRCh37: 17:7906367-7906367 GRCh38: 17:8003049-8003049

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 1:

⁷² (show all 21)

#	Symbol	AA change	Variation ID	SNP ID
1	GUCY2D	p.Ala362Ser	VAR_009129	rs61749677
2	GUCY2D	p.Ile573Val	VAR_009130	rs61749756
3	GUCY2D	p.Phe565Ser	VAR_009131	rs61749755
4	GUCY2D	p.Pro858Ser	VAR_009134	rs61750176
5	GUCY2D	p.Leu954Pro	VAR_009135	rs61750182
6	GUCY2D	p.Cys105Tyr	VAR_023770	rs61749669
7	GUCY2D	p.Leu325Pro	VAR_023771	rs61749675
8	GUCY2D	p.Thr55Met	VAR_067169	rs201414567
9	GUCY2D	p.Glu103Val	VAR_067170
10	GUCY2D	p.Thr312Met	VAR_067171	rs61749673
11	GUCY2D	p.Arg438Cys	VAR_067174	rs565948960
12	GUCY2D	p.Trp640Leu	VAR_067175
13	GUCY2D	p.Arg660Gln	VAR_067176	rs61750162
14	GUCY2D	p.Asp728His	VAR_067177
15	GUCY2D	p.Ile734Ala	VAR_067178
16	GUCY2D	p.Arg768Trp	VAR_067179	rs61750168
17	GUCY2D	p.Met784Arg	VAR_067180	rs375010731
18	GUCY2D	p.Arg795Gln	VAR_067181	rs61750171
19	GUCY2D	p.Ser1007Leu	VAR_067182
20	GUCY2D	p.Ala710Val	VAR_082624	rs781725943
21	GUCY2D	p.Val902Leu	VAR_082628

Sources

Expression for Leber Congenital Amaurosis 1

Search GEO for disease gene expression data for Leber Congenital Amaurosis 1.

Sources

Pathways for Leber Congenital Amaurosis 1

Pathways related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of fat-soluble vitamins ⁶⁵ Show member pathways Metabolism of vitamin K ⁶⁵ Retinoid metabolism and transport ⁶⁵ The retinoid cycle in cones (daylight vision) ⁶⁵ Visual phototransduction ⁶⁵ Vitamin D (calciferol) metabolism ⁶⁵	12.09	RPE65 RDH12 LRAT GUCY2F GUCY2D GUCA1B
2	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.75	RPE65 RDH12 LRAT GUCY2F GUCY2D GUCA1B
3	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁵	11.24	RPE65 RDH12 LRAT
4	Visual Cycle in Retinal Rods ⁶³	11.2	RPE65 RDH12 LRAT GUCY2F GUCY2D GUCA1B
5	Vitamin A and Carotenoid Metabolism ¹	11.08	RPE65 RDH12 LRAT

Sources

GO Terms for Leber Congenital Amaurosis 1

Cellular components related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell projection	GO:0042995	10	TULP1 SPATA7 RPGRIP1 RP1 RD3 PROM1
2	cilium	GO:0005929	9.85	TULP1 RPGRIP1 RP1 PROM1 LCA5 CEP290
3	photoreceptor connecting cilium	GO:0032391	9.72	SPATA7 RPGRIP1 RP1 LCA5 CEP290
4	axoneme	GO:0005930	9.71	SPATA7 RPGRIP1 RP1 LCA5
5	photoreceptor disc membrane	GO:0097381	9.65	GUCY2F GUCY2D GUCA1B GUCA1A GRK1
6	photoreceptor inner segment	GO:0001917	9.56	TULP1 RP1 RDH12 RD3 GUCA1B GUCA1A
7	photoreceptor outer segment membrane	GO:0042622	9.43	PROM1 GUCY2D
8	photoreceptor outer segment	GO:0001750	9.32	TULP1 SPATA7 RP1 RD3 PROM1 GUCY2D

Biological processes related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.83	TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
2	retina development in camera-type eye	GO:0060041	9.8	TULP1 RPGRIP1 RPE65 RP1 RD3 CRB1
3	detection of light stimulus involved in visual perception	GO:0050908	9.73	TULP1 RPE65 GUCY2F CRB1
4	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.73	GUCY2F GUCY2D GUCA1B GUCA1A GRK1 AIPL1
5	retinoid metabolic process	GO:0001523	9.71	RPE65 RDH12 LRAT
6	eye photoreceptor cell development	GO:0042462	9.71	TULP1 RPGRIP1 CRB1 CEP290
7	photoreceptor cell maintenance	GO:0045494	9.7	TULP1 SPATA7 RP1 RDH12 PROM1 LCA5
8	retinol metabolic process	GO:0042572	9.67	RPE65 RDH12 LRAT
9	retina morphogenesis in camera-type eye	GO:0060042	9.67	RPE65 RP1 PROM1 CRB1
10	retina homeostasis	GO:0001895	9.65	TULP1 RPE65 AIPL1
11	receptor guanylyl cyclase signaling pathway	GO:0007168	9.63	GUCY2F GUCY2D GUCA1B
12	retina layer formation	GO:0010842	9.61	PROM1 CRB1
13	cyclic nucleotide biosynthetic process	GO:0009190	9.6	GUCY2F GUCY2D
14	cellular response to light stimulus	GO:0071482	9.59	RP1 CRB1
15	photoreceptor cell outer segment organization	GO:0035845	9.58	RP1 CRB1
16	cGMP biosynthetic process	GO:0006182	9.58	GUCY2F GUCY2D
17	retinal rod cell development	GO:0046548	9.57	RPGRIP1 RP1
18	positive regulation of guanylate cyclase activity	GO:0031284	9.56	GUCA1B GUCA1A
19	phototransduction, visible light	GO:0007603	9.55	RP1 AIPL1
20	visual perception	GO:0007601	9.53	TULP1 SPATA7 RPGRIP1 RPE65 RP1 RDH12
21	vitamin A metabolic process	GO:0006776	9.52	RPE65 LRAT
22	protein localization to photoreceptor outer segment	GO:1903546	9.51	TULP1 SPATA7

Molecular functions related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	phosphorus-oxygen lyase activity	GO:0016849	9.26	GUCY2F GUCY2D
2	guanylate cyclase activity	GO:0004383	9.16	GUCY2F GUCY2D
3	calcium sensitive guanylate cyclase activator activity	GO:0008048	8.96	GUCA1B GUCA1A
4	peptide receptor activity	GO:0001653	8.62	GUCY2F GUCY2D

Sources

Sources for Leber Congenital Amaurosis 1

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Leber Congenital Amaurosis 1 (LCA1)

Aliases & Classifications for Leber Congenital Amaurosis 1

MalaCards integrated aliases for Leber Congenital Amaurosis 1:

Characteristics:

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Summaries for Leber Congenital Amaurosis 1

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Diseases in the Leber Congenital Amaurosis 4 family:

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Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 1:

Symptoms & Phenotypes for Leber Congenital Amaurosis 1

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Genes related to Leber Congenital Amaurosis 1 (7 elite genes):

Variations for Leber Congenital Amaurosis 1

ClinVar genetic disease variations for Leber Congenital Amaurosis 1:

UniProtKB/Swiss-Prot genetic disease variations for Leber Congenital Amaurosis 1:

Expression for Leber Congenital Amaurosis 1

Pathways for Leber Congenital Amaurosis 1

Pathways related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

GO Terms for Leber Congenital Amaurosis 1

Cellular components related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

Biological processes related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

Molecular functions related to Leber Congenital Amaurosis 1 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 1