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

LCA1 MCID: LBR004 MIFTS: 46	Leber Congenital Amaurosis 1 (LCA1) Categories: Eye diseases, Genetic diseases, Metabolic 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 ⁵³ ⁷⁵ ²⁹ ¹³ ⁶ ¹⁵

Lca1 ⁵⁷ ¹² ⁵³ ⁷⁵

Amaurosis Congenita of Leber, Type 1 ⁷⁶ ⁵³ ⁷³

Amaurosis Congenita of Leber I ⁵⁷ ¹²

Retinal Blindness, Congenital ⁵⁷ ⁵³

Crb ⁵⁷ ⁵³

Retinal Blindness, Congenital; Crb ⁵⁷

Leber Congenital Amaurosis, Type 1 ⁴⁰

Leber Congenital Amaurosis Type 1 ⁵³

Leber Congenital Amaurosis Type I ⁷⁵

Lca ⁵⁷

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

leber congenital amaurosis 1:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

External Ids:

OMIM ⁵⁷ 204000

Disease Ontology ¹² DOID:0110078

ICD10 ³³ H35.5

MedGen ⁴² C2931258 CN034165

MeSH ⁴⁴ D057130

UMLS ⁷³ 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)

MalaCards based summary : Leber Congenital Amaurosis 1, also known as lca1, is related to leber congenital amaurosis 9 and retinal degeneration, 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 kidney, and related phenotypes are nystagmus and intellectual disability

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 : ⁷⁵ 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 : ⁷⁶ Leber''s congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the... more...

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Related Diseases for Leber Congenital Amaurosis 1

Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 1	Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 3	Leber Congenital Amaurosis 4
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

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

(show all 47)

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis 9	31.5	GUCY2D TULP1
2	retinal degeneration	29.5	GUCA1A GUCY2D RD3 TULP1
3	leber congenital amaurosis	28.8	ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3
4	retinitis pigmentosa	28.7	ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3
5	littoral cell angioma of the spleen	11.7
6	anomalous left coronary artery from the pulmonary artery	11.3
7	senior-loken syndrome 1	11.2
8	leber congenital amaurosis 2	11.1
9	joubert syndrome with oculorenal anomalies	11.1
10	congenital muscular dystrophy with cerebellar involvement	11.1
11	nystagmus 1, congenital, x-linked	11.0
12	leber congenital amaurosis 3	11.0
13	leber congenital amaurosis 4	11.0
14	leber congenital amaurosis 10	11.0
15	leber congenital amaurosis 14	11.0
16	leber congenital amaurosis 15	11.0
17	senior-loken syndrome 5	11.0
18	leber congenital amaurosis 6	11.0
19	leber congenital amaurosis 7	11.0
20	leber congenital amaurosis 8	11.0
21	leber congenital amaurosis 11	11.0
22	pulmonary alveolar microlithiasis	10.1
23	cholera	10.1
24	leukoencephalopathy, cerebral calcifications, and cysts	10.1
25	leber congenital amaurosis 12	10.0	GUCY2D RD3
26	eye degenerative disease	10.0	GUCA1A GUCY2D
27	prolonged electroretinal response suppression	10.0	GRK1 GUCY2D
28	multiple sclerosis	9.9
29	systemic lupus erythematosus	9.9
30	pelger-huet anomaly	9.9
31	cystic fibrosis	9.9
32	cardiomyopathy, infantile hypertrophic	9.9
33	liver cirrhosis	9.9
34	alcoholic cardiomyopathy	9.9
35	cholestasis	9.9
36	kidney cancer	9.9
37	myocarditis	9.9
38	lupus erythematosus	9.9
39	polymyositis	9.9
40	retinal disease	9.9	GUCA1A GUCY2D TULP1
41	achromatopsia 3	9.9	GUCY2D TULP1
42	cone-rod dystrophy 2	9.9	GUCA1A GUCY2D TULP1
43	cone-rod dystrophy 6	9.9	GUCA1A GUCY2D RD3
44	choroidal dystrophy, central areolar, 1	9.8	GUCA1A GUCA1B GUCY2D
45	hereditary choroidal atrophy	9.8	GUCA1A GUCA1B GUCY2D
46	partial central choroid dystrophy	9.8	GUCA1A GUCA1B GUCY2D
47	fundus dystrophy	9.5	GRK1 GUCA1A GUCA1B GUCY2D TULP1

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

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Symptoms & Phenotypes for Leber Congenital Amaurosis 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
nystagmus
cataract
blindness
photophobia
keratoconus
more

Neurologic Central Nervous System:
mental retardation

Head And Neck Ears:
sensory hearing loss

Abdomen Liver:
hepatomegaly

Growth Other:
retarded growth

Laboratory Abnormalities:
hyperthreoninemia
hyperthreoninuria

Clinical features from OMIM:

204000

Human phenotypes related to Leber Congenital Amaurosis 1:

³² (show all 15)

#	Description	HPO Source Accession
1	nystagmus ³²	HP:0000639
2	intellectual disability ³²	HP:0001249
3	cataract ³²	HP:0000518
4	hepatomegaly ³²	HP:0002240
5	sensorineural hearing impairment ³²	HP:0000407
6	blindness ³²	HP:0000618
7	photophobia ³²	HP:0000613
8	growth delay ³²	HP:0001510
9	keratoconus ³²	HP:0000563
10	pigmentary retinopathy ³²	HP:0000580
11	fundus atrophy ³²	HP:0001099
12	eye poking ³²	HP:0001483
13	hyperthreoninemia ³²	HP:0003354
14	hyperthreoninuria ³²	HP:0003296
15	decreased light- and dark-adapted electroretinogram amplitude ³²	HP:0000654

UMLS symptoms related to Leber Congenital Amaurosis 1:

photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 1:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.43	GRK1 GUCA1A GUCY2D RD3 SALL2 TULP1
2	vision/eye	MP:0005391	9.17	ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3

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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:

⁴¹

Eye, Retina, Kidney, Liver, Spleen

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Publications for Leber Congenital Amaurosis 1

Articles related to Leber Congenital Amaurosis 1:

#	Title	Authors	Year
1	Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-)Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1. ( 26247368 )	Boye S.L....Boye S.E.	2015
2	Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1. ( 25477517 )	Zulliger R....Azadi S.	2015
3	Bicistronic lentiviruses containing a viral 2A cleavage sequence reliably co-express two proteins and restore vision to an animal model of LCA1. ( 21647387 )	Verrier JD...Semple-Rowland SL	2011
4	A tomato ER-type Ca2+-ATPase, LCA1, has a low thapsigargin-sensitivity and can transport manganese. ( 19056336 )	Johnson NA...Gatto C	2009
5	The yeast acylglycerol acyltransferase LCA1 is a key component of Lands cycle for phosphatidylcholine turnover. ( 17996202 )	Chen Q...Zou J	2007
6	Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2). ( 15180248 )	Porto FB...Sahel JA	2003
7	Alternative transcription initiation sites generate two LCA1 Ca2+-ATPase mRNA transcripts in tomato roots. ( 10394952 )	Navarro-Avino JP...Bennett AB	1999

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Genes for Leber Congenital Amaurosis 1

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	1338.29	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9683616 20301475 12325031 (more) 9888789
2	TULP1	Tubby Like Protein 1	Protein Coding	400	Pathogenic ⁶	20301475
3	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	17.22	DISEASES inferred ¹⁵
4	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	16.62	DISEASES inferred ¹⁵
5	RD3	Retinal Degeneration 3, GUCY2D Regulator	Protein Coding	16.55	DISEASES inferred ¹⁵
6	ARR3	Arrestin 3	Protein Coding	16.17	DISEASES inferred ¹⁵
7	GUCA1B	Guanylate Cyclase Activator 1B	Protein Coding	15.63	DISEASES inferred ¹⁵
8	SALL2	Spalt Like Transcription Factor 2	Protein Coding	15.4	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 1

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

⁷⁵ (show all 19)

#	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
18	GUCY2D	p.Arg795Gln	VAR_067181	rs61750171
19	GUCY2D	p.Ser1007Leu	VAR_067182

ClinVar genetic disease variations for Leber Congenital Amaurosis 1:

⁶ (show top 50) (show all 53)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GUCY2D	NM_000180.3(GUCY2D): c.1694T> C (p.Phe565Ser)	single nucleotide variant	Pathogenic	rs61749755	GRCh37	Chromosome 17, 7912849: 7912849
2	GUCY2D	NM_000180.3(GUCY2D): c.1694T> C (p.Phe565Ser)	single nucleotide variant	Pathogenic	rs61749755	GRCh38	Chromosome 17, 8009531: 8009531
3	GUCY2D	GUCY2D, 1-BP DEL, 460C	deletion	Pathogenic
4	GUCY2D	GUCY2D, 1-BP DEL, 693C	deletion	Pathogenic
5	GUCY2D	NM_000180.3(GUCY2D): c.154G> T (p.Ala52Ser)	single nucleotide variant	Benign	rs61749665	GRCh37	Chromosome 17, 7906519: 7906519
6	GUCY2D	NM_000180.3(GUCY2D): c.154G> T (p.Ala52Ser)	single nucleotide variant	Benign	rs61749665	GRCh38	Chromosome 17, 8003201: 8003201
7	GUCY2D	GUCY2D, 1-BP DEL, 2943G	deletion	Pathogenic
8	GUCY2D	NM_000180.3(GUCY2D): c.3233_3236dupACCA (p.His1079Glnfs)	duplication	Pathogenic	rs386834239	GRCh38	Chromosome 17, 8016451: 8016454
9	GUCY2D	NM_000180.3(GUCY2D): c.3233_3236dupACCA (p.His1079Glnfs)	duplication	Pathogenic	rs386834239	GRCh37	Chromosome 17, 7919769: 7919772
10	GUCY2D	NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp)	single nucleotide variant	Pathogenic	rs61750168	GRCh37	Chromosome 17, 7917236: 7917236
11	GUCY2D	NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp)	single nucleotide variant	Pathogenic	rs61750168	GRCh38	Chromosome 17, 8013918: 8013918
12	GUCY2D	NM_000180.3(GUCY2D): c.2983C> T (p.Arg995Trp)	single nucleotide variant	Likely pathogenic	rs61750187	GRCh37	Chromosome 17, 7919099: 7919099
13	GUCY2D	NM_000180.3(GUCY2D): c.2983C> T (p.Arg995Trp)	single nucleotide variant	Likely pathogenic	rs61750187	GRCh38	Chromosome 17, 8015781: 8015781
14	GUCY2D	NM_000180.3(GUCY2D): c.389del (p.Pro130Leufs)	deletion	Pathogenic	rs61749670	GRCh37	Chromosome 17, 7906754: 7906754
15	GUCY2D	NM_000180.3(GUCY2D): c.389del (p.Pro130Leufs)	deletion	Pathogenic	rs61749670	GRCh38	Chromosome 17, 8003436: 8003436
16	GUCY2D	NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=)	single nucleotide variant	Benign	rs112372281	GRCh37	Chromosome 17, 7918177: 7918177
17	GUCY2D	NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=)	single nucleotide variant	Benign	rs112372281	GRCh38	Chromosome 17, 8014859: 8014859
18	GUCY2D	NM_000180.3(GUCY2D): c.3225-7C> T	single nucleotide variant	Benign	rs79887212	GRCh37	Chromosome 17, 7919754: 7919754
19	GUCY2D	NM_000180.3(GUCY2D): c.3225-7C> T	single nucleotide variant	Benign	rs79887212	GRCh38	Chromosome 17, 8016436: 8016436
20	GUCY2D	NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=)	single nucleotide variant	Benign	rs142351773	GRCh37	Chromosome 17, 7919833: 7919833
21	GUCY2D	NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=)	single nucleotide variant	Benign	rs142351773	GRCh38	Chromosome 17, 8016515: 8016515
22	GUCY2D	NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs)	deletion	Pathogenic	rs794727952	GRCh37	Chromosome 17, 7915485: 7915485
23	GUCY2D	NM_000180.3(GUCY2D): c.1773delC (p.Asn591Lysfs)	deletion	Pathogenic	rs794727952	GRCh38	Chromosome 17, 8012167: 8012167
24	GUCY2D	NM_000180.3(GUCY2D): c.3044-7G> T	single nucleotide variant	Benign	rs56348143	GRCh38	Chromosome 17, 8015920: 8015920
25	GUCY2D	NM_000180.3(GUCY2D): c.3044-7G> T	single nucleotide variant	Benign	rs56348143	GRCh37	Chromosome 17, 7919238: 7919238
26	GUCY2D	NM_000180.3(GUCY2D): c.129_134delTCTGCT (p.Leu44_Leu45del)	deletion	Conflicting interpretations of pathogenicity	rs552184470	GRCh37	Chromosome 17, 7906494: 7906499
27	GUCY2D	NM_000180.3(GUCY2D): c.129_134delTCTGCT (p.Leu44_Leu45del)	deletion	Conflicting interpretations of pathogenicity	rs552184470	GRCh38	Chromosome 17, 8003176: 8003181
28	GUCY2D	NG_009092.1: g.15407_15601del195	deletion	Pathogenic		GRCh37	Chromosome 17, 7916394: 7916588
29	GUCY2D	NG_009092.1: g.15407_15601del195	deletion	Pathogenic		GRCh38	Chromosome 17, 8013076: 8013270
30	GUCY2D	NM_000180.3(GUCY2D): c.1040_1041delTT (p.Phe347Trpfs)	deletion	Likely pathogenic	rs763890649	GRCh38	Chromosome 17, 8006376: 8006377
31	GUCY2D	NM_000180.3(GUCY2D): c.1040_1041delTT (p.Phe347Trpfs)	deletion	Likely pathogenic	rs763890649	GRCh37	Chromosome 17, 7909694: 7909695
32	GUCY2D	NM_000180.3(GUCY2D): c.2377delG (p.Glu793Asnfs)	deletion	Pathogenic		GRCh38	Chromosome 17, 8013993: 8013993
33	GUCY2D	NM_000180.3(GUCY2D): c.2377delG (p.Glu793Asnfs)	deletion	Pathogenic		GRCh37	Chromosome 17, 7917311: 7917311
34	GUCY2D	NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn)	single nucleotide variant	Uncertain significance	rs181800610	GRCh38	Chromosome 17, 8003743: 8003743
35	GUCY2D	NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn)	single nucleotide variant	Uncertain significance	rs181800610	GRCh37	Chromosome 17, 7907061: 7907061
36	GUCY2D	NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn)	single nucleotide variant	Uncertain significance	rs201587670	GRCh38	Chromosome 17, 8014880: 8014880
37	GUCY2D	NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn)	single nucleotide variant	Uncertain significance	rs201587670	GRCh37	Chromosome 17, 7918198: 7918198
38	GUCY2D	NM_000180.3(GUCY2D): c.1119G> A (p.Val373=)	single nucleotide variant	Benign	rs56034424	GRCh37	Chromosome 17, 7909773: 7909773
39	GUCY2D	NM_000180.3(GUCY2D): c.1119G> A (p.Val373=)	single nucleotide variant	Benign	rs56034424	GRCh38	Chromosome 17, 8006455: 8006455
40	GUCY2D	NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 17, 8014751: 8014751
41	GUCY2D	NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 17, 7918069: 7918069
42	TULP1	NM_003322.5(TULP1): c.524dup (p.Pro176Thrfs)	duplication	Pathogenic		GRCh37	Chromosome 6, 35477681: 35477681
43	TULP1	NM_003322.5(TULP1): c.524dup (p.Pro176Thrfs)	duplication	Pathogenic		GRCh38	Chromosome 6, 35509904: 35509904
44	RP1	NM_006269.1(RP1): c.1267_1656del390insA (p.Ala423Asnfs)	indel	Uncertain significance		GRCh37	Chromosome 8, 55537709: 55538098
45	RP1	NM_006269.1(RP1): c.1267_1656del390insA (p.Ala423Asnfs)	indel	Uncertain significance		GRCh38	Chromosome 8, 54625149: 54625538
46	GUCY2D	NM_000180.3(GUCY2D): c.2303G> A (p.Arg768Gln)	single nucleotide variant	Pathogenic	rs750889782	GRCh38	Chromosome 17, 8013919: 8013919
47	GUCY2D	NM_000180.3(GUCY2D): c.2303G> A (p.Arg768Gln)	single nucleotide variant	Pathogenic	rs750889782	GRCh37	Chromosome 17, 7917237: 7917237
48	GUCY2D	NM_000180.3(GUCY2D): c.2618C> G (p.Pro873Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 17, 7918218: 7918218
49	GUCY2D	NM_000180.3(GUCY2D): c.2618C> G (p.Pro873Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 17, 8014900: 8014900
50	GUCY2D	NM_000180.3(GUCY2D): c.3224+1G> C	single nucleotide variant	Pathogenic	rs757823463	GRCh38	Chromosome 17, 8016291: 8016291

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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	Metabolism of fat-soluble vitamins ⁶⁶ Show member pathways Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ Visual phototransduction ⁶⁶ Vitamin D (calciferol) metabolism ⁶⁶	11.89	GRK1 GUCA1A GUCA1B GUCY2D
2	Phototransduction ³⁷ Show member pathways Activation of the phototransduction cascade ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ The phototransduction cascade ⁶⁶ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.75	ARR3 GRK1 GUCA1A GUCA1B GUCY2D
3	Visual Cycle in Retinal Rods ⁶⁴	10.99	ARR3 GRK1 GUCA1A GUCA1B GUCY2D
4	Development_Thrombopoetin signaling via JAK-STAT pathway ²²	10.72	ARR3 GRK1 GUCA1A GUCA1B GUCY2D

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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 inner segment	GO:0001917	9.26	ARR3 GUCA1A GUCA1B TULP1
2	photoreceptor outer segment	GO:0001750	9.16	ARR3 TULP1
3	photoreceptor disc membrane	GO:0097381	8.92	GRK1 GUCA1A GUCA1B GUCY2D

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

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.5	ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3
2	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.46	GRK1 GUCA1A GUCA1B GUCY2D
3	retina development in camera-type eye	GO:0060041	9.43	RD3 TULP1
4	phototransduction	GO:0007602	9.4	GUCA1A GUCA1B
5	receptor guanylyl cyclase signaling pathway	GO:0007168	9.37	GUCA1B GUCY2D
6	positive regulation of guanylate cyclase activity	GO:0031284	9.32	GUCA1A GUCA1B
7	regulation of guanylate cyclase activity	GO:0031282	9.26	GUCA1A GUCA1B
8	visual perception	GO:0007601	9.17	ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3

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

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium sensitive guanylate cyclase activator activity	GO:0008048	8.96	GUCA1A GUCA1B
2	guanylate cyclase regulator activity	GO:0030249	8.62	GUCA1A GUCA1B

Sources

Sources for Leber Congenital Amaurosis 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

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 SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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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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:

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