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

Sources

Aliases & Classifications for Leber Congenital Amaurosis 1

MalaCards integrated aliases for Leber Congenital Amaurosis 1:

Name: Leber Congenital Amaurosis 1 ⁵⁸ ¹² ⁵⁴ ⁷⁶ ³⁰ ¹³ ⁶ ¹⁵

Lca1 ⁵⁸ ¹² ⁵⁴ ⁷⁶

Amaurosis Congenita of Leber, Type 1 ⁷⁷ ⁵⁴ ⁷⁴

Amaurosis Congenita of Leber I ⁵⁸ ¹²

Retinal Blindness, Congenital ⁵⁸ ⁵⁴

Crb ⁵⁸ ⁵⁴

Retinal Blindness, Congenital; Crb ⁵⁸

Leber Congenital Amaurosis, Type 1 ⁴¹

Leber Congenital Amaurosis Type 1 ⁵⁴

Leber Congenital Amaurosis Type I ⁷⁶

Lca ⁵⁸

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

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: ³⁴

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 ⁵⁸ 204000

MeSH ⁴⁵ D057130

ICD10 ³⁴ H35.5

MedGen ⁴³ C2931258 CN034165

UMLS ⁷⁴ C2931258

Sources

Summaries for Leber Congenital Amaurosis 1

OMIM : ⁵⁸ 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 brain, 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 : ⁷⁶ 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 : ⁷⁷ Leber''s congenital amaurosis (LCA) is a rare inherited eye disease that appears at birth or in the... more...

Sources

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 top 50) (show all 57)

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis 9	31.6	GUCY2D TULP1
2	retinal degeneration	29.2	GUCA1A GUCY2D RD3 TULP1
3	leber congenital amaurosis	28.2	TULP1 RD3 GUCY2D GUCA1B GUCA1A GRK1
4	retinitis pigmentosa	27.5	ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3
5	littoral cell angioma of the spleen	11.8
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	leber congenital amaurosis / early-onset severe retinal dystrophy	11.1
11	congenital muscular dystrophy with cerebellar involvement	11.1
12	nystagmus 1, congenital, x-linked	11.1
13	leber congenital amaurosis 3	11.1
14	leber congenital amaurosis 4	11.1
15	leber congenital amaurosis 10	11.1
16	leber congenital amaurosis 14	11.1
17	leber congenital amaurosis 15	11.1
18	senior-loken syndrome 5	11.0
19	leber congenital amaurosis 6	11.0
20	leber congenital amaurosis 7	11.0
21	leber congenital amaurosis 8	11.0
22	leber congenital amaurosis 11	11.0
23	leber congenital amaurosis 5	10.2
24	cholera	10.1
25	pneumonia	10.1
26	leukoencephalopathy, brain calcifications, and cysts	10.1
27	leukoencephalopathy, cerebral calcifications, and cysts	10.1
28	eye degenerative disease	10.0	GUCA1A GUCY2D
29	leber congenital amaurosis 12	10.0	GUCY2D RD3
30	prolonged electroretinal response suppression	9.9	GRK1 GUCY2D
31	coloboma of macula	9.9
32	multiple sclerosis	9.9
33	systemic lupus erythematosus	9.9
34	pelger-huet anomaly	9.9
35	rheumatoid arthritis	9.9
36	cystic fibrosis	9.9
37	pulmonary alveolar microlithiasis	9.9
38	cardiomyopathy, infantile hypertrophic	9.9
39	liver cirrhosis	9.9
40	obstructive nephropathy	9.9
41	alcoholic cardiomyopathy	9.9
42	cholestasis	9.9
43	rectum cancer	9.9
44	kidney cancer	9.9
45	myocarditis	9.9
46	lupus erythematosus	9.9
47	heparin-induced thrombocytopenia	9.9
48	polymyositis	9.9
49	streptococcal group a invasive disease	9.9
50	achromatopsia 3	9.9	GUCY2D TULP1

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

Sources

Symptoms & Phenotypes for Leber Congenital Amaurosis 1

Human phenotypes related to Leber Congenital Amaurosis 1:

³³ (show all 15)

#	Description	HPO Source Accession
1	nystagmus ³³	HP:0000639
2	intellectual disability ³³	HP:0001249
3	cataract ³³	HP:0000518
4	hepatomegaly ³³	HP:0002240
5	sensorineural hearing impairment ³³	HP:0000407
6	blindness ³³	HP:0000618
7	photophobia ³³	HP:0000613
8	growth delay ³³	HP:0001510
9	keratoconus ³³	HP:0000563
10	pigmentary retinopathy ³³	HP:0000580
11	fundus atrophy ³³	HP:0001099
12	eye poking ³³	HP:0001483
13	hyperthreoninemia ³³	HP:0003354
14	hyperthreoninuria ³³	HP:0003296
15	decreased light- and dark-adapted electroretinogram amplitude ³³	HP:0000654

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

UMLS symptoms related to Leber Congenital Amaurosis 1:

photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 1:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.43	GRK1 GUCA1A GUCY2D RD3 RP1 TULP1
2	vision/eye	MP:0005391	9.23	ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3

Sources

Drugs & Therapeutics for Leber Congenital Amaurosis 1

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

Sources

Genetic Tests for Leber Congenital Amaurosis 1

Genetic tests related to Leber Congenital Amaurosis 1:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 1 ³⁰	GUCY2D

Sources

Anatomical Context for Leber Congenital Amaurosis 1

MalaCards organs/tissues related to Leber Congenital Amaurosis 1:

⁴²

Eye, Retina, Brain, Kidney, Liver, Spleen

Sources

Publications for Leber Congenital Amaurosis 1

Articles related to Leber Congenital Amaurosis 1:

(show all 12)

#	Title	Authors	Year
1	A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1). ( 26427419 )	Boye SE	2016
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	Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1. ( 26247368 )	Boye SL...Boye SE	2015
4	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
5	A tomato ER-type Ca2+-ATPase, LCA1, has a low thapsigargin-sensitivity and can transport manganese. ( 19056336 )	Johnson NA...Gatto C	2009
6	The yeast acylglycerol acyltransferase LCA1 is a key component of Lands cycle for phosphatidylcholine turnover. ( 17996202 )	Chen Q...Zou J	2007
7	Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2). ( 15180248 )	Porto FB...Sahel JA	2003
8	Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. ( 12325031 )	Hanein S...Kaplan J	2002
9	Alternative transcription initiation sites generate two LCA1 Ca2+-ATPase mRNA transcripts in tomato roots. ( 10394952 )	Navarro-Avino JP...Bennett AB	1999
10	Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis. ( 9888789 )	Duda T...Sharma RK	1999
11	A retGC-1 mutation in autosomal dominant cone-rod dystrophy. ( 9683616 )	Perrault I...Kaplan J	1998
12	Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13. ( 8641699 )	Camuzat A...Kaplan J	1996

Sources

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	1338.35	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	9683616 9888789 20301475 (more) 30285347 12325031
2	TULP1	TUB Like Protein 1	Protein Coding	417.59	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301475 30285347
3	RP1	RP1 Axonemal Microtubule Associated	Protein Coding	17.59	GeneCards inferred via : Variants (show sections)
4	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	17.23	DISEASES inferred ¹⁵
5	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	16.65	DISEASES inferred ¹⁵
6	RD3	Retinal Degeneration 3, GUCY2D Regulator	Protein Coding	16.6	DISEASES inferred ¹⁵
7	ARR3	Arrestin 3	Protein Coding	16.05	DISEASES inferred ¹⁵
8	GUCA1B	Guanylate Cyclase Activator 1B	Protein Coding	15.71	DISEASES inferred ¹⁵

Sources

Variations for Leber Congenital Amaurosis 1

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

⁷⁶ (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	rs375010731
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 55)

#	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	GRCh37	Chromosome 17, 7919769: 7919772
9	GUCY2D	NM_000180.3(GUCY2D): c.3233_3236dupACCA (p.His1079Glnfs)	duplication	Pathogenic	rs386834239	GRCh38	Chromosome 17, 8016451: 8016454
10	GUCY2D	NM_000180.3(GUCY2D): c.1956+2T> A	single nucleotide variant	Likely pathogenic	rs61749758	GRCh37	Chromosome 17, 7915670: 7915670
11	GUCY2D	NM_000180.3(GUCY2D): c.1956+2T> A	single nucleotide variant	Likely pathogenic	rs61749758	GRCh38	Chromosome 17, 8012352: 8012352
12	GUCY2D	NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp)	single nucleotide variant	Pathogenic	rs61750168	GRCh37	Chromosome 17, 7917236: 7917236
13	GUCY2D	NM_000180.3(GUCY2D): c.2302C> T (p.Arg768Trp)	single nucleotide variant	Pathogenic	rs61750168	GRCh38	Chromosome 17, 8013918: 8013918
14	GUCY2D	NM_000180.3(GUCY2D): c.2927G> T (p.Arg976Leu)	single nucleotide variant	Uncertain significance	rs61750184	GRCh37	Chromosome 17, 7918803: 7918803
15	GUCY2D	NM_000180.3(GUCY2D): c.2927G> T (p.Arg976Leu)	single nucleotide variant	Uncertain significance	rs61750184	GRCh38	Chromosome 17, 8015485: 8015485
16	GUCY2D	NM_000180.3(GUCY2D): c.389del (p.Pro130Leufs)	deletion	Pathogenic	rs61749670	GRCh37	Chromosome 17, 7906754: 7906754
17	GUCY2D	NM_000180.3(GUCY2D): c.389del (p.Pro130Leufs)	deletion	Pathogenic	rs61749670	GRCh38	Chromosome 17, 8003436: 8003436
18	GUCY2D	NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=)	single nucleotide variant	Benign	rs112372281	GRCh37	Chromosome 17, 7918177: 7918177
19	GUCY2D	NM_000180.3(GUCY2D): c.2577G> T (p.Pro859=)	single nucleotide variant	Benign	rs112372281	GRCh38	Chromosome 17, 8014859: 8014859
20	GUCY2D	NM_000180.3(GUCY2D): c.3225-7C> T	single nucleotide variant	Benign	rs79887212	GRCh37	Chromosome 17, 7919754: 7919754
21	GUCY2D	NM_000180.3(GUCY2D): c.3225-7C> T	single nucleotide variant	Benign	rs79887212	GRCh38	Chromosome 17, 8016436: 8016436
22	GUCY2D	NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=)	single nucleotide variant	Benign	rs142351773	GRCh37	Chromosome 17, 7919833: 7919833
23	GUCY2D	NM_000180.3(GUCY2D): c.3297G> A (p.Pro1099=)	single nucleotide variant	Benign	rs142351773	GRCh38	Chromosome 17, 8016515: 8016515
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	NG_009092.1: g.15407_15601del195	deletion	Pathogenic	rs1555635550	GRCh37	Chromosome 17, 7916394: 7916588
27	GUCY2D	NG_009092.1: g.15407_15601del195	deletion	Pathogenic	rs1555635550	GRCh38	Chromosome 17, 8013076: 8013270
28	GUCY2D	NM_000180.3(GUCY2D): c.1040_1041delTT (p.Phe347Trpfs)	deletion	Likely pathogenic	rs763890649	GRCh38	Chromosome 17, 8006376: 8006377
29	GUCY2D	NM_000180.3(GUCY2D): c.1040_1041delTT (p.Phe347Trpfs)	deletion	Likely pathogenic	rs763890649	GRCh37	Chromosome 17, 7909694: 7909695
30	GUCY2D	NM_000180.3(GUCY2D): c.2377delG (p.Glu793Asnfs)	deletion	Pathogenic	rs1555635668	GRCh38	Chromosome 17, 8013993: 8013993
31	GUCY2D	NM_000180.3(GUCY2D): c.2377delG (p.Glu793Asnfs)	deletion	Pathogenic	rs1555635668	GRCh37	Chromosome 17, 7917311: 7917311
32	GUCY2D	NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn)	single nucleotide variant	Uncertain significance	rs181800610	GRCh37	Chromosome 17, 7907061: 7907061
33	GUCY2D	NM_000180.3(GUCY2D): c.696G> T (p.Lys232Asn)	single nucleotide variant	Uncertain significance	rs181800610	GRCh38	Chromosome 17, 8003743: 8003743
34	GUCY2D	NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn)	single nucleotide variant	Uncertain significance	rs201587670	GRCh38	Chromosome 17, 8014880: 8014880
35	GUCY2D	NM_000180.3(GUCY2D): c.2598G> C (p.Lys866Asn)	single nucleotide variant	Uncertain significance	rs201587670	GRCh37	Chromosome 17, 7918198: 7918198
36	GUCY2D	NM_000180.3(GUCY2D): c.1119G> A (p.Val373=)	single nucleotide variant	Benign	rs56034424	GRCh37	Chromosome 17, 7909773: 7909773
37	GUCY2D	NM_000180.3(GUCY2D): c.1119G> A (p.Val373=)	single nucleotide variant	Benign	rs56034424	GRCh38	Chromosome 17, 8006455: 8006455
38	GUCY2D	NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter)	single nucleotide variant	Pathogenic	rs1555635778	GRCh37	Chromosome 17, 7918069: 7918069
39	GUCY2D	NM_000180.3(GUCY2D): c.2563C> T (p.Gln855Ter)	single nucleotide variant	Pathogenic	rs1555635778	GRCh38	Chromosome 17, 8014751: 8014751
40	TULP1	NM_003322.5(TULP1): c.524dup (p.Pro176Thrfs)	duplication	Pathogenic	rs1327062642	GRCh37	Chromosome 6, 35477681: 35477681
41	TULP1	NM_003322.5(TULP1): c.524dup (p.Pro176Thrfs)	duplication	Pathogenic	rs1327062642	GRCh38	Chromosome 6, 35509904: 35509904
42	RP1	NM_006269.1(RP1): c.1267_1656del390insA (p.Ala423Asnfs)	indel	Uncertain significance	rs1554519422	GRCh37	Chromosome 8, 55537709: 55538098
43	RP1	NM_006269.1(RP1): c.1267_1656del390insA (p.Ala423Asnfs)	indel	Uncertain significance	rs1554519422	GRCh38	Chromosome 8, 54625149: 54625538
44	GUCY2D	NM_000180.3(GUCY2D): c.2303G> A (p.Arg768Gln)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 17, 8013919: 8013919
45	GUCY2D	NM_000180.3(GUCY2D): c.2303G> A (p.Arg768Gln)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 17, 7917237: 7917237
46	GUCY2D	NM_000180.3(GUCY2D): c.2618C> G (p.Pro873Arg)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 17, 7918218: 7918218
47	GUCY2D	NM_000180.3(GUCY2D): c.2618C> G (p.Pro873Arg)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 17, 8014900: 8014900
48	GUCY2D	NM_000180.3(GUCY2D): c.3224+1G> C	single nucleotide variant	Pathogenic		GRCh38	Chromosome 17, 8016291: 8016291
49	GUCY2D	NM_000180.3(GUCY2D): c.3224+1G> C	single nucleotide variant	Pathogenic		GRCh37	Chromosome 17, 7919609: 7919609
50	GUCY2D	NC_000017.11: g.(?_8002902)_(8016550_?)del	deletion	Pathogenic		GRCh38	Chromosome 17, 8002902: 8016550

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 ⁶⁷ Show member pathways Metabolism of vitamin K ⁶⁷ Retinoid metabolism and transport ⁶⁷ The retinoid cycle in cones (daylight vision) ⁶⁷ Visual phototransduction ⁶⁷ Vitamin D (calciferol) metabolism ⁶⁷	11.89	GRK1 GUCA1A GUCA1B GUCY2D
2	Phototransduction ³⁸ Show member pathways Activation of the phototransduction cascade ⁶⁷ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁷ The phototransduction cascade ⁶⁷ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.75	ARR3 GRK1 GUCA1A GUCA1B GUCY2D
3	Visual Cycle in Retinal Rods ⁶⁵	10.99	ARR3 GRK1 GUCA1A GUCA1B GUCY2D
4	Development_Thrombopoetin signaling via JAK-STAT pathway ²³	10.72	ARR3 GRK1 GUCA1A GUCA1B GUCY2D

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 outer segment	GO:0001750	9.33	ARR3 RP1 TULP1
2	photoreceptor disc membrane	GO:0097381	9.26	GRK1 GUCA1A GUCA1B GUCY2D
3	photoreceptor inner segment	GO:0001917	9.02	ARR3 GUCA1A GUCA1B RP1 TULP1

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	9.56	ARR3 GRK1 GUCA1A GUCA1B GUCY2D RD3
2	retina development in camera-type eye	GO:0060041	9.5	RD3 RP1 TULP1
3	photoreceptor cell maintenance	GO:0045494	9.46	RP1 TULP1
4	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.46	GRK1 GUCA1A GUCA1B GUCY2D
5	phototransduction	GO:0007602	9.43	GUCA1A GUCA1B
6	receptor guanylyl cyclase signaling pathway	GO:0007168	9.4	GUCA1B GUCY2D
7	positive regulation of guanylate cyclase activity	GO:0031284	9.37	GUCA1A GUCA1B
8	regulation of guanylate cyclase activity	GO:0031282	9.26	GUCA1A GUCA1B
9	visual perception	GO:0007601	9.23	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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Leber Congenital Amaurosis 1 (LCA1)

Aliases & Classifications for Leber Congenital Amaurosis 1

MalaCards integrated aliases for Leber Congenital Amaurosis 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Leber Congenital Amaurosis 1

Related Diseases for Leber Congenital Amaurosis 1

Diseases in the Leber Congenital Amaurosis 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:

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 1:

Drugs & Therapeutics for Leber Congenital Amaurosis 1

Genetic Tests for Leber Congenital Amaurosis 1

Genetic tests related to Leber Congenital Amaurosis 1:

Anatomical Context for Leber Congenital Amaurosis 1

MalaCards organs/tissues related to Leber Congenital Amaurosis 1:

Publications for Leber Congenital Amaurosis 1

Articles related to Leber Congenital Amaurosis 1:

Genes for Leber Congenital Amaurosis 1

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

Variations for Leber Congenital Amaurosis 1

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

ClinVar 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