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

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 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 1, also known as lca1, is related to senior-loken syndrome 1 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 Visual phototransduction and Ciliopathies. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are nystagmus and blindness

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 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.

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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 175)

#	Related Disease	Score	Top Affiliating Genes
1	senior-loken syndrome 1	32.0	TULP1 RPGRIP1 LCA5 GUCY2D CRX CRB1
2	leber congenital amaurosis 14	31.9	TULP1 LRAT LCA5
3	leber congenital amaurosis 7	31.8	LCA5 GUCY2D CRX CRB1
4	leber congenital amaurosis 15	31.8	TULP1 RD3 LCA5 GUCY2D
5	leber congenital amaurosis 11	31.8	TULP1 LCA5 GUCY2D CRB1
6	leber congenital amaurosis 2	31.8	TULP1 RD3 LRAT LCA5 GUCY2D CRX
7	leber congenital amaurosis 8	31.7	TULP1 LRAT LCA5 GUCY2D CRX CRB1
8	leber congenital amaurosis 9	31.6	TULP1 LRAT LCA5 GUCY2D CRX CRB1
9	leber congenital amaurosis 6	31.5	TULP1 RPGRIP1 LRAT LCA5 GUCY2D CRX
10	leber congenital amaurosis 4	31.4	TULP1 RPGRIP1 RD3 LRAT LCA5 GUCY2D
11	leber congenital amaurosis 3	31.4	TULP1 RPGRIP1 RD3 LRAT LCA5 GUCY2D
12	leber congenital amaurosis 10	31.4	TULP1 RPGRIP1 RD3 LCA5 GUCY2D GRK1
13	leber plus disease	31.3	TULP1 RPGRIP1 RD3 PROM1 LRAT LCA5
14	progressive cone dystrophy	30.6	GUCY2D GUCA1A
15	retinal disease	30.5	GUCY2D GUCA1A CRX CRB1
16	retinitis	30.4	TULP1 RPGRIP1 CRB1
17	cone-rod dystrophy 6	30.3	RPGRIP1 RD3 GUCY2F GUCY2D GUCA1A ARR3
18	leber congenital amaurosis 13	30.1	TULP1 RPGRIP1 LRAT LCA5
19	coloboma of macula	30.0	LCA5 GUCY2D CRX CRB1
20	retinal degeneration	30.0	TULP1 RPGRIP1 RD3 PROM1 LRAT GUCY2D
21	vitelliform macular dystrophy	29.9	GUCY2D GUCA1A GRK1 CRX CRB1
22	night blindness	29.9	TULP1 LRAT GUCY2D GRK1 CRX CRB1
23	fundus dystrophy	29.6	TULP1 RPGRIP1 RD3 PROM1 LRAT LCA5
24	joubert syndrome 1	29.6	TULP1 RPGRIP1 RD3 LRAT LCA5 GUCY2D
25	cone-rod dystrophy 2	29.4	TULP1 RPGRIP1 RD3 PROM1 LRAT LCA5
26	retinitis pigmentosa	29.4	TULP1 RPGRIP1 RD3 PROM1 LRAT LCA5
27	congenital stationary night blindness	29.4	TULP1 RD3 LRAT LCA5 GUCY2D GUCA1A
28	cone dystrophy	29.3	TULP1 RPGRIP1 LRAT LCA5 GUCY2F GUCY2D
29	anomalous left coronary artery from the pulmonary artery	11.3
30	littoral cell angioma of the spleen	11.3
31	leber congenital amaurosis / early-onset severe retinal dystrophy	11.0
32	rpe65-related leber congenital amaurosis / early-onset severe retinal dystrophy	11.0
33	congenital muscular dystrophy with cerebellar involvement	11.0
34	nystagmus 1, congenital, x-linked	10.9
35	senior-loken syndrome 5	10.9
36	leber congenital amaurosis 19	10.9
37	pneumonia	10.6
38	pseudoretinitis pigmentosa	10.4	TULP1 CRB1
39	intellectual developmental disorder, autosomal dominant 3	10.3	RD3 GUCY2D
40	severe early-childhood-onset retinal dystrophy	10.3	LRAT LCA5
41	simpson-golabi-behmel syndrome, type 2	10.3	RPGRIP1 LCA5
42	pigmented paravenous chorioretinal atrophy	10.3	GUCY2D CRB1
43	isolated macular dystrophy	10.3	PROM1 GUCA1A
44	retinal cone dystrophy 1	10.3	GUCY2D GUCA1A CRX
45	partial central choroid dystrophy	10.3	GUCY2D GUCA1A CRX
46	hereditary choroidal atrophy	10.3	GUCY2D GUCA1A CRX
47	hereditary retinal dystrophy	10.3	GUCY2D CRB1
48	degeneration of macula and posterior pole	10.3	LRAT CRX CRB1
49	cone-rod dystrophy 3	10.3	GUCY2D GUCA1A CRX
50	occult macular dystrophy	10.3	GUCY2D GUCA1A CRX

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:

³⁰ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³⁰	Very rare (1%)	HP:0000639
2	blindness ³⁰	Very rare (1%)	HP:0000618
3	photophobia ³⁰	Very rare (1%)	HP:0000613
4	nyctalopia ³⁰	Very rare (1%)	HP:0000662
5	keratoconus ³⁰	Very rare (1%)	HP:0000563
6	attenuation of retinal blood vessels ³⁰	Very rare (1%)	HP:0007843
7	optic disc drusen ³⁰	Very rare (1%)	HP:0012426
8	eye poking ³⁰	Very rare (1%)	HP:0001483
9	intellectual disability ³⁰		HP:0001249
10	cataract ³⁰		HP:0000518
11	hepatomegaly ³⁰		HP:0002240
12	sensorineural hearing impairment ³⁰		HP:0000407
13	growth delay ³⁰		HP:0001510
14	pigmentary retinopathy ³⁰		HP:0000580
15	fundus atrophy ³⁰		HP:0001099
16	hyperthreoninemia ³⁰		HP:0003354
17	decreased light- and dark-adapted electroretinogram amplitude ³⁰		HP:0000654
18	hyperthreoninuria ³⁰		HP:0003296

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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 08-Dec-2022)

UMLS symptoms related to Leber Congenital Amaurosis 1:

photophobia

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with vaccinia virus (VACV) infection	GR00362-A	8.8	ARMC6 GRK1 RBBP6

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.77	CRB1 CRX GRK1 GUCA1A GUCY2D GUCY2F
2	pigmentation	MP:0001186	9.55	CRB1 CRX LCA5 PROM1 TULP1
3	vision/eye	MP:0005391	9.47	ARR3 CRB1 CRX GRK1 GUCA1A GUCY2D

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Drugs & Therapeutics for Leber Congenital Amaurosis 1

Drugs for Leber Congenital Amaurosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Prednisolone phosphate

Approved, Vet_approved

Phase 1, Phase 2

302-25-0

2

Prednisolone acetate

Approved, Vet_approved

Phase 1, Phase 2

52-21-1

3

Prednisolone

Approved, Vet_approved

Phase 1, Phase 2

50-24-8

4894 5755

4

Polymyxin B

Approved, Vet_approved

Phase 1, Phase 2

1405-20-5, 1404-26-8

4868

5

Prednisone

Approved, Vet_approved

Phase 1, Phase 2

53-03-2

5865

6

Methylprednisolone hemisuccinate

Approved

Phase 1, Phase 2

2921-57-5

1875

7

Levoleucovorin

Approved, Experimental, Investigational

Phase 1, Phase 2

68538-85-2, 58-05-9, 73951-54-9

149436 6006

8

Methylprednisolone

Approved, Vet_approved

Phase 1, Phase 2

83-43-2

4159 6741

9

Trimethoprim

Approved, Vet_approved

Phase 1, Phase 2

738-70-5

5578

10

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 1, Phase 2

59-30-3

6037

11

Prednisolone hemisuccinate

Experimental

Phase 1, Phase 2

2920-86-7

4897

12

Folic Acid Antagonists

Phase 1, Phase 2

13

Folate

Phase 1, Phase 2

14

Anti-Bacterial Agents

Phase 1, Phase 2

15

Antineoplastic Agents, Hormonal

Phase 1, Phase 2

16

Vitamin B9

Phase 1, Phase 2

17

Anti-Infective Agents

Phase 1, Phase 2

18

Antiprotozoal Agents

Phase 1, Phase 2

19

Hormones

Phase 1, Phase 2

20

Antiparasitic Agents

Phase 1, Phase 2

21

Vitamin B Complex

Phase 1, Phase 2

22

Hormone Antagonists

Phase 1, Phase 2

23

Antimalarials

Phase 1, Phase 2

24

Polymyxins

Phase 1, Phase 2

25

Pharmaceutical Solutions

Phase 1, Phase 2

26

glucocorticoids

Phase 1, Phase 2

27

Anti-Inflammatory Agents

Phase 1, Phase 2

28

Methylprednisolone Acetate

Phase 1, Phase 2

584547

29

Cytochrome P-450 Enzyme Inhibitors

Phase 1, Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Phase 1/2 Dose Escalation Study of Subretinally Injected SAR439483 Administered in Patients With Leber Congenital Amaurosis Caused by Biallelic Mutations in GUCY2D	Active, not recruiting	NCT03920007	Phase 1, Phase 2	SAR439483;SAR439483 Diluent Solution;Prednisone;Triamcinalone Acetonide;1% Prednisolone;Trimethoprim/polymyxin B

Search 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 ²⁸	GUCY2D

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Anatomical Context for Leber Congenital Amaurosis 1

Organs/tissues related to Leber Congenital Amaurosis 1:

MalaCards : Retina, Eye, Bone Marrow, Lung, Bone, Pineal

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Publications for Leber Congenital Amaurosis 1

Articles related to Leber Congenital Amaurosis 1:

(show top 50) (show all 131)

#	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. ⁶² ⁵⁷ ⁵	Jacobson SG...Dizhoor AM	23035049	2013
2	Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. ⁶² ⁵⁷ ⁵	Perrault I...Kaplan J	8944027	1996
3	Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. ⁵⁷ ⁵	Yzer S...Cremers FP	16505055	2006
4	Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. ⁵⁷ ⁵	Zernant J...Allikmets R	16123401	2005
5	Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. ⁵⁷ ⁵	Hanein S...Kaplan J	15024725	2004
6	Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. ⁵⁷ ⁵	Hanein S...Kaplan J	12325031	2002
7	Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. ⁶² ⁵	Zulliger R...Azadi S	25477517	2015
8	Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). ⁶² ⁵	Rozet JM...Kaplan J	11328726	2001
9	Spectrum of retGC1 mutations in Leber's congenital amaurosis. ⁶² ⁵	Perrault I...Kaplan J	10951519	2000
10	Leber congenital amaurosis. ⁶² ⁵⁷	Perrault I...Kaplan J	10527670	1999
11	Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. ⁶² ⁵	Duda T...Sharma RK	9888789	1999
12	Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. ⁶² ⁵⁷	Camuzat A...Kaplan J	8641699	1996
13	A gene for Leber's congenital amaurosis maps to chromosome 17p. ⁶² ⁵⁷	Camuzat A...Leowski C	7581387	1995
14	Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. ⁵	Marinakis NM...Traeger-Synodinos J	34008892	2021
15	Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation. ⁵	Yi Z...Zhang Q	34048777	2021
16	Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. ⁵	Maggi J...Berger W	33546218	2021
17	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
18	GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. ⁵	Bouzia Z...Michaelides M	31704230	2020
19	Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis. ⁵	Surl D...Han J	32165824	2020
20	Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. ⁵	Stunkel ML...Drack AV	29559409	2018
21	Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D. ⁵	Sharon D...Koch KW	29061346	2018
22	GUCY2D Cone-Rod Dystrophy-6 Is a "Phototransduction Disease" Triggered by Abnormal Calcium Feedback on Retinal Membrane Guanylyl Cyclase 1. ⁵	Sato S...Dizhoor AM	29440533	2018
23	Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis. ⁵	Wimberg H...Koch KW	30319355	2018
24	The genetic profile of Leber congenital amaurosis in an Australian cohort. ⁵	Thompson JA...Lamey TM	29178642	2017
25	Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria. ⁵	Ji S...Schrauder M	29178942	2017
26	Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. ⁵	Han J...Choi JR	28966547	2017
27	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. ⁵	Carss KJ...Raymond FL	28041643	2017
28	Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. ⁵	Wang S...Zhao P	27422788	2016
29	The R838S Mutation in Retinal Guanylyl Cyclase 1 (RetGC1) Alters Calcium Sensitivity of cGMP Synthesis in the Retina and Causes Blindness in Transgenic Mice. ⁵	Dizhoor AM...Peshenko IV	27703005	2016
30	Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. ⁵	Astuti GD...Cremers FP	26626312	2016
31	Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy. ⁵	Safieh LA...Kozak I	26957854	2016
32	GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies. ⁵	Jiang F...Li Y	26298565	2015
33	Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast. ⁵	Roman AJ...Jacobson SG	26253563	2015
34	Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. ⁵	Wang H...Sui R	26047050	2015
35	Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. ⁵⁷	Khan AO...Bolz HJ	24997176	2014
36	GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? ⁵	Zobor D...Jagle H	24875811	2014
37	Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. ⁵	Wang X...Chen R	23847139	2013
38	IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. ⁵	Schorderet DF...Escher P	23484092	2013
39	A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy. ⁵	Zhao X...Li Y	23734073	2013
40	Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. ⁵⁷	Wiszniewski W...Lupski JR	21153841	2011
41	Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. ⁵	Li L...Hejtmancik JF	21602930	2011
42	Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. ⁵	Coppieters F...De Baere E	20683928	2010
43	Activation of retinal guanylyl cyclase RetGC1 by GCAP1: stoichiometry of binding and effect of new LCA-related mutations. ⁵	Peshenko IV...Dizhoor AM	20050595	2010
44	Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. ⁵⁷	Chung DC...Traboulsi EI	20006823	2009
45	A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. ⁵⁷	Khanna H...Katsanis N	19430481	2009
46	Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. ⁵	Stone EM	17964524	2007
47	An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. ⁵	Henderson RH...Moore AT	18055820	2007
48	Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. ⁵	Simonelli F...Banfi S	17724218	2007
49	Evaluation of genotype-phenotype associations in leber congenital amaurosis. ⁵	Galvin JA...Koenekoop RK	16205573	2005
50	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005

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Genes for Leber Congenital Amaurosis 1

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

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	1349.32	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	8554074 8944027 9618177 (more) 9683616 9888789 10766140 10951519 11115851 11328726 11565546 12552567 15024725 15175914 15504042 16199547 16505055 17724218 20050595 20683928 21602930 23035049 24875811 25477517 26047050 26253563 26298565 26626312 27422788 27703005 28041643 28966547 29061346 29178642 29440533 29559409 30319355 31630094 32165824 34008892 34048777 12325031 15691574 16123401 16205573 17964524 18055820 23484092 23734073 23847139 26957854 31704230 33546218
2	TULP1	TUB Like Protein 1	Protein Coding	428.26	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	29178942
3	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	427.9	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
4	CRX	Cone-Rod Homeobox	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
5	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
6	LCA5	Lebercilin LCA5	Protein Coding	405.42	Pathogenic ⁵ DISEASES inferred ¹⁴
7	PROM1	Prominin 1	Protein Coding	400	Pathogenic ⁵
8	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	27.94	Likely pathogenic ⁵ DISEASES inferred ¹⁴
9	GUCY2F	Guanylate Cyclase 2F, Retinal	Protein Coding	7.07	DISEASES inferred ¹⁴
10	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	6.61	DISEASES inferred ¹⁴
11	ARMC6	Armadillo Repeat Containing 6	Protein Coding	6.22	DISEASES inferred ¹⁴
12	RD3	RD3 Regulator Of GUCY2D	Protein Coding	5.71	DISEASES inferred ¹⁴
13	NKX2-1-AS1	NKX2-1 Antisense RNA 1	RNA Gene	5.53	DISEASES inferred ¹⁴
14	SPTLC1	Serine Palmitoyltransferase Long Chain Base Subunit 1	Protein Coding	5.32	DISEASES inferred ¹⁴
15	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	5.27	DISEASES inferred ¹⁴
16	MIR3127	MicroRNA 3127	RNA Gene	5.12	DISEASES inferred ¹⁴
17	TMEM161A	Transmembrane Protein 161A	Protein Coding	5.1	DISEASES inferred ¹⁴
18	ARR3	Arrestin 3	Protein Coding	5.06	DISEASES inferred ¹⁴
19	CLTB	Clathrin Light Chain B	Protein Coding	5.03	DISEASES inferred ¹⁴
20	RBBP6	RB Binding Protein 6, Ubiquitin Ligase	Protein Coding	5.02	DISEASES inferred ¹⁴
21	GRK7	G Protein-Coupled Receptor Kinase 7	Protein Coding	5	DISEASES inferred ¹⁴
22	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	4.94	DISEASES inferred ¹⁴
23	SQOR	Sulfide Quinone Oxidoreductase	Protein Coding	4.81	DISEASES inferred ¹⁴
24	ADCY7	Adenylate Cyclase 7	Protein Coding	4.79	DISEASES inferred ¹⁴
25	NRL	Neural Retina Leucine Zipper	Protein Coding	4.78	DISEASES inferred ¹⁴
26	SLC24A1	Solute Carrier Family 24 Member 1	Protein Coding	4.74	DISEASES inferred ¹⁴
27	GUCA2A	Guanylate Cyclase Activator 2A	Protein Coding	4.72	DISEASES inferred ¹⁴
28	CA4	Carbonic Anhydrase 4	Protein Coding	4.72	DISEASES inferred ¹⁴
29	SPTLC2	Serine Palmitoyltransferase Long Chain Base Subunit 2	Protein Coding	4.68	DISEASES inferred ¹⁴
30	NXNL1	Nucleoredoxin Like 1	Protein Coding	4.63	DISEASES inferred ¹⁴
31	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	4.6	DISEASES inferred ¹⁴
32	ADCY9	Adenylate Cyclase 9	Protein Coding	4.53	DISEASES inferred ¹⁴
33	CCL16	C-C Motif Chemokine Ligand 16	Protein Coding	4.49	DISEASES inferred ¹⁴
34	NLK	Nemo Like Kinase	Protein Coding	4.47	DISEASES inferred ¹⁴

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Variations for Leber Congenital Amaurosis 1

ClinVar genetic disease variations for Leber Congenital Amaurosis 1:

⁵ (show top 50) (show all 741)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GUCY2D	NM_000180.4(GUCY2D):c.2377del (p.Glu793fs)	DEL	Pathogenic	471236	rs1555635668	GRCh37: 17:7917310-7917310 GRCh38: 17:8013992-8013992
2	GUCY2D	NM_000180.4(GUCY2D):c.2114-27_2263+18del	DEL	Pathogenic	430835	rs1555635550	GRCh37: 17:7916391-7916585 GRCh38: 17:8013073-8013267
3	TULP1	NM_003322.6(TULP1):c.524dup (p.Pro176fs)	DUP	Pathogenic	547179	rs1327062642	GRCh37: 6:35477680-35477681 GRCh38: 6:35509903-35509904
4	GUCY2D	NC_000017.11:g.(?_8002902)_(8016550_?)del	DEL	Pathogenic	584235		GRCh37: 17:7906220-7919868 GRCh38: 17:8002902-8016550
5	GUCY2D	NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs)	DUP	Pathogenic	65572	rs386834239	GRCh37: 17:7919766-7919767 GRCh38: 17:8016448-8016449
6	GUCY2D	NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)	SNV	Pathogenic	689384	rs1290420698	GRCh37: 17:7911315-7911315 GRCh38: 17:8007997-8007997
7	CRB1	NM_201253.3(CRB1):c.281_282del (p.Phe94fs)	DEL	Pathogenic	801590	rs1571848166	GRCh37: 1:197297761-197297762 GRCh38: 1:197328631-197328632
8	CRB1	NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)	SNV	Pathogenic	801594	rs1571878277	GRCh37: 1:197316605-197316605 GRCh38: 1:197347475-197347475
9	CRB1	NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)	MICROSAT	Pathogenic	801600	rs1571557864	GRCh37: 1:197404453-197404454 GRCh38: 1:197435323-197435324
10	TULP1	NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)	SNV	Pathogenic	802207	rs773968778	GRCh37: 6:35466173-35466173 GRCh38: 6:35498396-35498396
11	TULP1	NM_003322.6(TULP1):c.1388del (p.Asn463fs)	DEL	Pathogenic	802208	rs1581736024	GRCh37: 6:35467865-35467865 GRCh38: 6:35500088-35500088
12	LCA5	NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)	SNV	Pathogenic	802243	rs1178243254	GRCh37: 6:80202268-80202268 GRCh38: 6:79492551-79492551
13	CRB1	NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)	DUP	Pathogenic	801596	rs1571523319	GRCh37: 1:197390412-197390413 GRCh38: 1:197421282-197421283
14	GUCY2D	NM_000180.4(GUCY2D):c.622del (p.Arg208fs)	DEL	Pathogenic	98607	rs61749671	GRCh37: 17:7906985-7906985 GRCh38: 17:8003667-8003667
15	GUCY2D	NM_000180.4(GUCY2D):c.1694T>C (p.Phe565Ser)	SNV	Pathogenic	9350	rs61749755	GRCh37: 17:7912849-7912849 GRCh38: 17:8009531-8009531
16	GUCY2D	NM_000180.4(GUCY2D):c.2T>A (p.Met1Lys)	SNV	Pathogenic	98585	rs281865408	GRCh37: 17:7906367-7906367 GRCh38: 17:8003049-8003049
17	GUCY2D	NM_000180.4(GUCY2D):c.3G>A (p.Met1Ile)	SNV	Pathogenic	98603	rs281865409	GRCh37: 17:7906368-7906368 GRCh38: 17:8003050-8003050
18	GUCY2D	NM_000180.4(GUCY2D):c.2770-1G>C	SNV	Pathogenic	974629	rs1975943461	GRCh37: 17:7918645-7918645 GRCh38: 17:8015327-8015327
19	GUCY2D	NM_000180.4(GUCY2D):c.176_177insCCGGGGT (p.Gly60fs)	INSERT	Pathogenic	974631	rs1975665345	GRCh37: 17:7906540-7906541 GRCh38: 17:8003222-8003223
20	GUCY2D	NM_000180.4(GUCY2D):c.226_239del (p.Ala76fs)	DEL	Pathogenic	98562	rs281865410	GRCh37: 17:7906591-7906604 GRCh38: 17:8003273-8003286
21	GUCY2D	NM_000180.4(GUCY2D):c.501del (p.Ala168fs)	DEL	Pathogenic	974632	rs1975675766	GRCh37: 17:7906862-7906862 GRCh38: 17:8003544-8003544
22	GUCY2D	NM_000180.4(GUCY2D):c.997G>T (p.Glu333Ter)	SNV	Pathogenic	974635	rs755999834	GRCh37: 17:7907445-7907445 GRCh38: 17:8004127-8004127
23	GUCY2D	NM_000180.4(GUCY2D):c.2177_2206del (p.Ala726_Met736delinsVal)	DEL	Pathogenic	974640	rs1975890613	GRCh37: 17:7916484-7916513 GRCh38: 17:8013166-8013195
24	GUCY2D	NM_000180.4(GUCY2D):c.1806_1830del (p.Ala604fs)	DEL	Pathogenic	98549	rs63749078	GRCh37: 17:7915518-7915542 GRCh38: 17:8012200-8012224
25	GUCY2D	NM_000180.4(GUCY2D):c.2521G>T (p.Glu841Ter)	SNV	Pathogenic	974643	rs1341592819	GRCh37: 17:7918027-7918027 GRCh38: 17:8014709-8014709
26	GUCY2D	NM_000180.4(GUCY2D):c.2770-2A>G	SNV	Pathogenic	974647	rs1975943416	GRCh37: 17:7918644-7918644 GRCh38: 17:8015326-8015326
27	GUCY2D	NM_000180.4(GUCY2D):c.2997del (p.Phe999fs)	DEL	Pathogenic	974653	rs1975957618	GRCh37: 17:7919111-7919111 GRCh38: 17:8015793-8015793
28	GUCY2D	NM_000180.4(GUCY2D):c.2577-2A>C	SNV	Pathogenic	974645	rs1975931968	GRCh37: 17:7918175-7918175 GRCh38: 17:8014857-8014857
29	GUCY2D	NM_000180.4(GUCY2D):c.3078_3079del (p.Ile1027fs)	DEL	Pathogenic	98589	rs281865411	GRCh37: 17:7919279-7919280 GRCh38: 17:8015961-8015962
30	GUCY2D	NM_000180.4(GUCY2D):c.3118C>T (p.Arg1040Ter)	SNV	Pathogenic	98594	rs61750194	GRCh37: 17:7919319-7919319 GRCh38: 17:8016001-8016001
31	GUCY2D	NM_000180.4(GUCY2D):c.1566+2T>C	SNV	Pathogenic	98544	rs61749683	GRCh37: 17:7910848-7910848 GRCh38: 17:8007530-8007530
32	GUCY2D	NM_000180.4(GUCY2D):c.1957-1G>T	SNV	Pathogenic	98552	rs61749759	GRCh37: 17:7915767-7915767 GRCh38: 17:8012449-8012449
33	GUCY2D	NM_000180.4(GUCY2D):c.543G>A (p.Trp181Ter)	SNV	Pathogenic	974658	rs1403798841	GRCh37: 17:7906908-7906908 GRCh38: 17:8003590-8003590
34	GUCY2D	NM_000180.4(GUCY2D):c.1530del (p.Thr511fs)	DEL	Pathogenic	974659	rs1975768901	GRCh37: 17:7910810-7910810 GRCh38: 17:8007492-8007492
35	GUCY2D	NM_000180.4(GUCY2D):c.2413-1G>C	SNV	Pathogenic	974660	rs1975923246	GRCh37: 17:7917918-7917918 GRCh38: 17:8014600-8014600
36	GUCY2D	NM_000180.4(GUCY2D):c.2263+2T>C	SNV	Pathogenic	974661	rs1975893449	GRCh37: 17:7916572-7916572 GRCh38: 17:8013254-8013254
37	GUCY2D	NM_000180.4(GUCY2D):c.562_565dup (p.Ala189fs)	DUP	Pathogenic	974663	rs1975678842	GRCh37: 17:7906926-7906927 GRCh38: 17:8003608-8003609
38	GUCY2D	NM_000180.4(GUCY2D):c.91dup (p.Arg31fs)	DUP	Pathogenic	98609	rs61749663	GRCh37: 17:7906451-7906452 GRCh38: 17:8003133-8003134
39	GUCY2D	NM_000180.4(GUCY2D):c.1378+1G>A	SNV	Pathogenic	974668	rs1975751307	GRCh37: 17:7910033-7910033 GRCh38: 17:8006715-8006715
40	GUCY2D	NM_000180.4(GUCY2D):c.2899del (p.His967fs)	DEL	Pathogenic Pathogenic	98579	rs61750183	GRCh37: 17:7918774-7918774 GRCh38: 17:8015456-8015456
41	GUCY2D	NM_000180.4(GUCY2D):c.3219dup (p.Pro1074fs)	DUP	Pathogenic	974672	rs1374426388	GRCh37: 17:7919601-7919602 GRCh38: 17:8016283-8016284
42	GUCY2D	NM_000180.4(GUCY2D):c.3105C>G (p.Tyr1035Ter)	SNV	Pathogenic	1075556		GRCh37: 17:7919306-7919306 GRCh38: 17:8015988-8015988
43	GUCY2D	NM_000180.4(GUCY2D):c.1773del (p.Asn591fs)	DEL	Pathogenic Pathogenic	198995	rs794727952	GRCh37: 17:7915485-7915485 GRCh38: 17:8012167-8012167
44	GUCY2D	NM_000180.4(GUCY2D):c.690_693del (p.Lys232fs)	DEL	Pathogenic Pathogenic	1213844		GRCh37: 17:7907055-7907058 GRCh38: 17:8003737-8003740
45	GUCY2D	NM_000180.4(GUCY2D):c.571C>T (p.Gln191Ter)	SNV	Pathogenic	596884	rs768390959	GRCh37: 17:7906936-7906936 GRCh38: 17:8003618-8003618
46	GUCY2D	NM_000180.4(GUCY2D):c.3037G>A (p.Gly1013Arg)	SNV	Pathogenic Likely Pathogenic	974654	rs868612148	GRCh37: 17:7919153-7919153 GRCh38: 17:8015835-8015835
47	GUCY2D	NM_000180.4(GUCY2D):c.1245del (p.Phe415fs)	DEL	Pathogenic	803313	rs1598146173	GRCh37: 17:7909895-7909895 GRCh38: 17:8006577-8006577
48	GUCY2D	NM_000180.4(GUCY2D):c.2260G>T (p.Glu754Ter)	SNV	Pathogenic	1366687		GRCh37: 17:7916567-7916567 GRCh38: 17:8013249-8013249
49	GUCY2D	NM_000180.4(GUCY2D):c.2871del (p.Ser958fs)	DEL	Pathogenic	1413732		GRCh37: 17:7918747-7918747 GRCh38: 17:8015429-8015429
50	GUCY2D	NM_000180.4(GUCY2D):c.2209C>T (p.Gln737Ter)	SNV	Pathogenic	1456503		GRCh37: 17:7916516-7916516 GRCh38: 17:8013198-8013198

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

⁷³ (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	rs1598150793

Sources

Expression for Leber Congenital Amaurosis 1

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

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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	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	12.19	LRAT GUCY2F GUCY2D GUCA1A GRK1
2	Ciliopathies ⁷⁴	11.51	TULP1 RPGRIP1 LCA5 CRX
3	Visual Cycle in Retinal Rods ⁶⁴	11.41	LRAT GUCY2F GUCY2D GUCA1A GRK1 ARR3
4	Visual signal transduction: Cones ⁶¹	10.38	LRAT GUCY2F GUCY2D GRK1 ARR3

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	photoreceptor disc membrane	GO:0097381	9.86	GUCY2F GUCY2D GUCA1A GRK1
2	photoreceptor inner segment	GO:0001917	9.85	ARR3 CRB1 GUCA1A RD3 TULP1
3	cell projection	GO:0042995	9.73	TULP1 RPGRIP1 RD3 PROM1 LCA5 GUCY2F
4	photoreceptor outer segment membrane	GO:0042622	9.71	PROM1 GUCY2D
5	cone photoreceptor outer segment	GO:0120199	9.67	RD3 GUCA1A
6	rod photoreceptor outer segment	GO:0120200	9.62	RD3 GUCY2F
7	photoreceptor outer segment	GO:0001750	9.47	TULP1 RD3 PROM1 GUCY2D GUCA1A GRK1

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

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	detection of light stimulus involved in visual perception	GO:0050908	9.88	TULP1 GUCY2F CRB1
2	retina development in camera-type eye	GO:0060041	9.8	TULP1 RPGRIP1 RD3 CRB1
3	cGMP biosynthetic process	GO:0006182	9.78	GUCY2F GUCY2D
4	eye photoreceptor cell development	GO:0042462	9.77	TULP1 RPGRIP1 CRB1
5	response to stimulus	GO:0050896	9.77	TULP1 RPGRIP1 RD3 LRAT GUCY2F GUCY2D
6	receptor guanylyl cyclase signaling pathway	GO:0007168	9.76	GUCY2F GUCY2D
7	photoreceptor cell maintenance	GO:0045494	9.76	CRB1 LCA5 PROM1 TULP1
8	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.73	GUCY2F GUCY2D GRK1
9	retina morphogenesis in camera-type eye	GO:0060042	9.67	PROM1 CRB1
10	visual perception	GO:0007601	9.64	TULP1 RPGRIP1 RD3 LRAT GUCY2F GUCY2D
11	cyclic nucleotide biosynthetic process	GO:0009190	9.43	GUCY2F GUCY2D

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

#	Name	GO ID	Score	Top Affiliating Genes
1	guanylate cyclase activity	GO:0004383	9.26	GUCY2F GUCY2D
2	phosphorus-oxygen lyase activity	GO:0016849	9.16	GUCY2D GUCY2F
3	peptide receptor activity	GO:0001653	8.92	GUCY2F GUCY2D

Sources

Sources for Leber Congenital Amaurosis 1

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

LCA1 MCID: LBR004 MIFTS: 56	Leber Congenital Amaurosis 1 (LCA1) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Leber Congenital Amaurosis 1 (LCA1)

Aliases & Classifications for Leber Congenital Amaurosis 1

MalaCards integrated aliases for Leber Congenital Amaurosis 1:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 1

Related Diseases for Leber Congenital Amaurosis 1

Diseases in the Leber Congenital Amaurosis 4 family:

Diseases related to Leber Congenital Amaurosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Leber Congenital Amaurosis 1

Human phenotypes related to Leber Congenital Amaurosis 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Leber Congenital Amaurosis 1:

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

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 1:

Drugs & Therapeutics for Leber Congenital Amaurosis 1

Drugs for Leber Congenital Amaurosis 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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Genes for Leber Congenital Amaurosis 1

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