Leber Congenital Amaurosis 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LCA3 MCID: LBR013 MIFTS: 46	Leber Congenital Amaurosis 3 (LCA3) 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 3

MalaCards integrated aliases for Leber Congenital Amaurosis 3:

Name: Leber Congenital Amaurosis 3 ⁵⁷ ¹² ²⁰ ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Lca3 ⁵⁷ ¹² ²⁰ ⁷²

Retinitis Pigmentosa, Juvenile, Autosomal Recessive ⁵⁷ ²⁹

Leber Congenital Amaurosis Type 3 ²⁰ ⁷⁰

Amaurosis Congenita of Leber, Type 3 ²⁰

Leber Congenital Amaurosis, Type 3 ³⁹

Characteristics:

HPO:

³¹

leber congenital amaurosis 3:
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:0110331

OMIM® ⁵⁷ 604232

OMIM Phenotypic Series ⁵⁷ PS204000

MeSH ⁴⁴ D057130

ICD10 ³² H35.5

MedGen ⁴¹ C1858677 C2751780

SNOMED-CT via HPO ⁶⁸ 1151008 258211005 267628004 more

UMLS ⁷⁰ C1858677 C2931386

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Summaries for Leber Congenital Amaurosis 3

OMIM® : ⁵⁷ Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement. For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000. (604232) (Updated 05-Apr-2021)

MalaCards based summary : Leber Congenital Amaurosis 3, also known as lca3, is related to solar retinopathy and cone-rod dystrophy 17. An important gene associated with Leber Congenital Amaurosis 3 is SPATA7 (Spermatogenesis Associated 7), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are nystagmus and nyctalopia

Disease Ontology : ¹² A Leber congenital amaurosis that has material basis in mutation in the SPATA7 gene on chromosome 14q31.

UniProtKB/Swiss-Prot : ⁷² Leber congenital amaurosis 3: 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.

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Related Diseases for Leber Congenital Amaurosis 3

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

(show top 50) (show all 123)

#	Related Disease	Score	Top Affiliating Genes
1	solar retinopathy	10.3	RDH12 CRB1
2	cone-rod dystrophy 17	10.3	GUCY2D AIPL1
3	chorioretinal scar	10.3	RDH12 CRB1
4	cone-rod dystrophy 12	10.3	GUCY2D AIPL1
5	retinitis pigmentosa 63	10.3	SPATA7 CRX
6	optic disk drusen	10.3	RPGRIP1 CRB1
7	simpson-golabi-behmel syndrome, type 2	10.2	LCA5 CEP290
8	cone-rod dystrophy 8	10.2	LCA5 GUCY2D AIPL1
9	achromatopsia 3	10.2	RPGRIP1 GUCY2D
10	cone-rod dystrophy 1	10.2	RPGRIP1 NPHP4
11	partial central choroid dystrophy	10.2	GUCY2D CRX AIPL1
12	retinitis pigmentosa 28	10.2	LCA5 CRX
13	hereditary choroidal atrophy	10.2	GUCY2D CRX AIPL1
14	retinitis pigmentosa 38	10.2	TULP1 RPE65
15	joubert syndrome 9	10.2	RPE65 CEP290
16	bestrophinopathy, autosomal recessive	10.2	RPE65 CRB1
17	joubert syndrome 7	10.1	RPGRIP1 CEP290
18	retinitis pigmentosa 29	10.1	LCA5 CRYAA
19	scotoma	10.1	RPE65 GUCY2D CRB1
20	nanophthalmos	10.1	RPE65 LCA5 CRB1
21	retinitis pigmentosa 20	10.1	RPE65 LRAT
22	intraocular retinoblastoma	10.1	CRYAA CRX
23	stargardt disease 1	10.1	TULP1 CRX CRB1
24	aland island eye disease	10.1	RPGRIP1 RPE65 GUCY2D
25	leber congenital amaurosis / early-onset severe retinal dystrophy	10.1	RPE65 CEP290 AIPL1
26	pigmented paravenous chorioretinal atrophy	10.1	RDH12 GUCY2D CRB1 AIPL1
27	optic nerve hypoplasia, bilateral	10.1	RPE65 CRX CRB1
28	retinal perforation	10.1	RPE65 CRYAA
29	choroid disease	10.1	RPE65 GUCY2D CEP290
30	pseudoretinitis pigmentosa	10.1	TULP1 IMPDH1 CRB1
31	cogan syndrome	10.1	NPHP4 CEP290
32	choroideremia	10.1	RPE65 GUCY2D CEP290
33	blood group, globoside system	10.0	RPE65 CRYAA
34	cone-rod dystrophy 3	10.0	GUCY2D CRYAA CRX
35	exotropia	10.0	RPE65 CRYAA AIPL1
36	nephronophthisis 4	10.0	RPGRIP1 NPHP4
37	severe early-childhood-onset retinal dystrophy	10.0	SPATA7 RPE65 LRAT LCA5
38	enophthalmos	10.0	GUCY2D CRYAA CEP290
39	retinoschisis 1, x-linked, juvenile	10.0	RPE65 GUCY2D CRX CRB1
40	vitelliform macular dystrophy	10.0	RPE65 GUCY2D CRX CRB1
41	meckel syndrome, type 2	10.0	NPHP4 CEP290
42	yemenite deaf-blind hypopigmentation syndrome	10.0	RPE65 GUCY2D CEP290 AIPL1
43	retinitis pigmentosa 34	9.9	RPGRIP1 IQCB1 CRX
44	nephronophthisis 13	9.9	NPHP4 IQCB1
45	nephronophthisis 18	9.9	NPHP4 IQCB1
46	meckel syndrome, type 5	9.9	NPHP4 CEP290
47	late-onset retinal degeneration	9.9	RPE65 CRX CRB1 CEP290
48	leber congenital amaurosis 11	9.9	SPATA7 RDH12 LCA5 IMPDH1 AIPL1
49	nephronophthisis 15	9.9	NPHP4 IQCB1
50	retinitis	9.9	RPGRIP1 RPE65 IMPDH1 CRB1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 3:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 3

Human phenotypes related to Leber Congenital Amaurosis 3:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³¹	very rare (1%)	HP:0000639
2	nyctalopia ³¹	very rare (1%)	HP:0000662
3	visual loss ³¹	very rare (1%)	HP:0000572
4	constriction of peripheral visual field ³¹		HP:0001133

Clinical features from OMIM®:

604232 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 3:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10	AIPL1 CEP290 CRB1 CRX GUCY2D LCA5
2	pigmentation	MP:0001186	9.5	CEP290 CRB1 CRX LCA5 NPHP4 RPE65
3	vision/eye	MP:0005391	9.5	AIPL1 CEP290 CRB1 CRX GUCY2D IMPDH1

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Drugs & Therapeutics for Leber Congenital Amaurosis 3

Search Clinical Trials , NIH Clinical Center for Leber Congenital Amaurosis 3

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Genetic Tests for Leber Congenital Amaurosis 3

Genetic tests related to Leber Congenital Amaurosis 3:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 3 ²⁹	SPATA7
2	Retinitis Pigmentosa, Juvenile, Autosomal Recessive ²⁹

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Anatomical Context for Leber Congenital Amaurosis 3

MalaCards organs/tissues related to Leber Congenital Amaurosis 3:

⁴⁰

Retina, Eye, Bone Marrow, Bone, Lung

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Publications for Leber Congenital Amaurosis 3

Articles related to Leber Congenital Amaurosis 3:

(show all 23)

#	Title	Authors	PMID	Year
1	Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa. ⁶¹ ⁶ ⁵⁷	Wang H...Chen R	19268277	2009
2	Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. ⁶ ⁵⁷	Mackay DS...Moore AT	21310915	2011
3	Mutation survey of known LCA genes and loci in the Saudi Arabian population. ⁵⁷ ⁶¹	Li Y...Chen R	18936139	2009
4	A novel locus for Leber congenital amaurosis on chromosome 14q24. ⁵⁷ ⁶¹	Stockton DW...Lupski JR	9799089	1998
5	SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. ⁶	Matsui R...Jacobson SG	26854980	2016
6	Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. ⁶	Wang H...Sui R	26047050	2015
7	Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. ⁶	Sharon D...Banin E	26261414	2015
8	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
9	Next-generation genetic testing for retinitis pigmentosa. ⁶	Neveling K...Scheffer H	22334370	2012
10	Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype. ⁶	Perrault I...Rozet JM	20104588	2010
11	Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. ⁵⁷	Gu SM...Gal A	9326941	1997
12	The spermatogenesis-associated protein-7 (SPATA7) gene - an overview. ⁶¹	Kannabiran C	32799588	2020
13	The lateralization of left hippocampal CA3 during the retrieval of spatial working memory. ⁶¹	Song D...Qing H	32518226	2020
14	Optimal Inhibition of Choroidal Neovascularization by scAAV2 with VMD2 Promoter-driven Active Rap1a in the RPE. ⁶¹	Wang H...Hartnett ME	31673119	2019
15	Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. ⁶¹	Eblimit A...Chen R	25398945	2015
16	Exclusion of LCA5 locus in a consanguineous Turkish family with macular coloboma-type LCA. ⁶¹	Ozgul RK...Ogus A	16082399	2006
17	Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. ⁶¹	Thompson DA...Gal A	16269441	2005
18	Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶¹	Weleber RG...Beattie C	20301475	2004
19	Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. ⁶¹	Mohamed MD...Inglehearn CF	12642313	2003
20	A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. ⁶¹	Gerber S...Kaplan J	12567265	2002
21	Monoclonal antibodies for the in vitro detection of small cell lung cancer metastases in human bone marrow. ⁶¹	Lebacq-Verheyden AM...Symann M	2833399	1988
22	Immunodetection of small cell lung cancer metastases in bone marrow using three monoclonal antibodies. ⁶¹	Canon JL...Symann M	2833400	1988
23	Detection of small cell lung cancer bone marrow metastases by immunofluorescence. ⁶¹	Humblet Y...Symann M	2834687	1988

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Genes for Leber Congenital Amaurosis 3

Genes related to Leber Congenital Amaurosis 3 (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SPATA7	Spermatogenesis Associated 7	Protein Coding	1063.51	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	19268277
2	LCA5	Lebercilin LCA5	Protein Coding	8.36	DISEASES inferred ¹⁵
3	RDH12	Retinol Dehydrogenase 12	Protein Coding	7.89	DISEASES inferred ¹⁵
4	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	7.82	DISEASES inferred ¹⁵
5	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	7.44	DISEASES inferred ¹⁵
6	CRB1	Crumbs Cell Polarity Complex Component 1	Protein Coding	7.42	DISEASES inferred ¹⁵
7	TULP1	TUB Like Protein 1	Protein Coding	7.23	DISEASES inferred ¹⁵
8	RPGRIP1	RPGR Interacting Protein 1	Protein Coding	7.23	DISEASES inferred ¹⁵
9	CRX	Cone-Rod Homeobox	Protein Coding	7.2	DISEASES inferred ¹⁵
10	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	6.96	DISEASES inferred ¹⁵
11	CEP290	Centrosomal Protein 290	Protein Coding	6.96	DISEASES inferred ¹⁵
12	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	6.92	DISEASES inferred ¹⁵
13	IMPDH1	Inosine Monophosphate Dehydrogenase 1	Protein Coding	6.89	DISEASES inferred ¹⁵
14	CRYAA	Crystallin Alpha A	Protein Coding	6.56	DISEASES inferred ¹⁵ ¹⁵
15	IQCB1	IQ Motif Containing B1	Protein Coding	6.52	DISEASES inferred ¹⁵
16	RD3	RD3 Regulator Of GUCY2D	Protein Coding	6.49	DISEASES inferred ¹⁵
17	NPHP4	Nephrocystin 4	Protein Coding	6.15	DISEASES inferred ¹⁵

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Variations for Leber Congenital Amaurosis 3

ClinVar genetic disease variations for Leber Congenital Amaurosis 3:

⁶ (show top 50) (show all 131)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SPATA7	SPATA7, 4-BP DEL, 265CTCA	Deletion	Pathogenic	30804		GRCh37: GRCh38:
2	SPATA7	SPATA7, 3-BP DEL, 1227CAC	Deletion	Pathogenic	30805		GRCh37: GRCh38:
3	SPATA7	NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter)	SNV	Pathogenic	30806	rs140287375	GRCh37: 14:88883069-88883069 GRCh38: 14:88416725-88416725
4	SPATA7	NM_018418.5(SPATA7):c.1395del (p.Gln465fs)	Deletion	Pathogenic	1398	rs386834243	GRCh37: 14:88904360-88904360 GRCh38: 14:88438016-88438016
5	SPATA7	NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)	SNV	Pathogenic	1395	rs80044281	GRCh37: 14:88883138-88883138 GRCh38: 14:88416794-88416794
6	SPATA7	NM_018418.5(SPATA7):c.1195C>T (p.Gln399Ter)	SNV	Pathogenic	854754		GRCh37: 14:88903921-88903921 GRCh38: 14:88437577-88437577
7	SPATA7	NM_018418.5(SPATA7):c.1200_1201del (p.Asn400fs)	Deletion	Pathogenic	857630		GRCh37: 14:88903925-88903926 GRCh38: 14:88437581-88437582
8	SPATA7	NM_018418.5(SPATA7):c.763C>T (p.Gln255Ter)	SNV	Pathogenic	977969		GRCh37: 14:88892966-88892966 GRCh38: 14:88426622-88426622
9	SPATA7	NM_018418.5(SPATA7):c.845+1G>A	SNV	Pathogenic	977970		GRCh37: 14:88893049-88893049 GRCh38: 14:88426705-88426705
10	SPATA7	NM_018418.5(SPATA7):c.903_904del (p.Ile302fs)	Deletion	Pathogenic	977971		GRCh37: 14:88894030-88894031 GRCh38: 14:88427686-88427687
11	SPATA7	NM_018418.5(SPATA7):c.1161-1G>C	SNV	Pathogenic	977972		GRCh37: 14:88903886-88903886 GRCh38: 14:88437542-88437542
12	SPATA7	NM_018418.5(SPATA7):c.1126_1127del (p.Thr375_Asp376insTer)	Deletion	Pathogenic	977973		GRCh37: 14:88899521-88899522 GRCh38: 14:88433177-88433178
13	SPATA7	NM_018418.5(SPATA7):c.19+1G>C	SNV	Pathogenic	977974		GRCh37: 14:88852182-88852182 GRCh38: 14:88385838-88385838
14	SPATA7	NM_018418.4:c.(?_-175)_(238+1_239-1)del	Deletion	Pathogenic	978017		GRCh37: GRCh38:
15	SPATA7	NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter)	SNV	Pathogenic	489379	rs374268850	GRCh37: 14:88903897-88903897 GRCh38: 14:88437553-88437553
16	SPATA7	NM_018418.5(SPATA7):c.960dup (p.Pro321fs)	Duplication	Pathogenic	1396	rs386834241	GRCh37: 14:88895738-88895739 GRCh38: 14:88429394-88429395
17	SPATA7	NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)	SNV	Pathogenic	1397	rs75895925	GRCh37: 14:88903909-88903909 GRCh38: 14:88437565-88437565
18	SPATA7	NM_018418.4(SPATA7):c.20_23del (p.Val7Glufs)	Deletion	Pathogenic	143153	rs527236050	GRCh37: 14:88857723-88857726 GRCh38: 14:88391379-88391382
19	SPATA7	NM_018418.5(SPATA7):c.419del (p.Met140fs)	Deletion	Pathogenic	1028110		GRCh37: 14:88892622-88892622 GRCh38: 14:88426278-88426278
20	SPATA7	NM_018418.5(SPATA7):c.1361dup (p.Asn454fs)	Duplication	Likely pathogenic	968304		GRCh37: 14:88904321-88904322 GRCh38: 14:88437977-88437978
21	SPATA7	NM_018418.5(SPATA7):c.20-1G>A	SNV	Likely pathogenic	941590		GRCh37: 14:88857724-88857724 GRCh38: 14:88391380-88391380
22	SPATA7	NM_018418.5(SPATA7):c.94+2T>C	SNV	Likely pathogenic	189245	rs786204787	GRCh37: 14:88857801-88857801 GRCh38: 14:88391457-88391457
23	SPATA7	NM_018418.5(SPATA7):c.729C>T (p.Arg243=)	SNV	Conflicting interpretations of pathogenicity	95908	rs151338404	GRCh37: 14:88892932-88892932 GRCh38: 14:88426588-88426588
24	SPATA7	NM_018418.5(SPATA7):c.387G>A (p.Pro129=)	SNV	Conflicting interpretations of pathogenicity	314781	rs199727517	GRCh37: 14:88892590-88892590 GRCh38: 14:88426246-88426246
25	SPATA7	NM_018418.5(SPATA7):c.57G>T (p.Pro19=)	SNV	Conflicting interpretations of pathogenicity	314775	rs367830780	GRCh37: 14:88857762-88857762 GRCh38: 14:88391418-88391418
26	SPATA7	NM_018418.5(SPATA7):c.57G>A (p.Pro19=)	SNV	Conflicting interpretations of pathogenicity	719794	rs367830780	GRCh37: 14:88857762-88857762 GRCh38: 14:88391418-88391418
27	SPATA7	NM_018418.5(SPATA7):c.19+7G>A	SNV	Conflicting interpretations of pathogenicity	766822	rs199560035	GRCh37: 14:88852188-88852188 GRCh38: 14:88385844-88385844
28	SPATA7	NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln)	SNV	Conflicting interpretations of pathogenicity	198231	rs34682727	GRCh37: 14:88893018-88893018 GRCh38: 14:88426674-88426674
29	SPATA7	NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)	SNV	Conflicting interpretations of pathogenicity	844972		GRCh37: 14:88852165-88852165 GRCh38: 14:88385821-88385821
30	SPATA7	NM_018418.5(SPATA7):c.1033A>G (p.Met345Val)	SNV	Uncertain significance	167716	rs375371982	GRCh37: 14:88897520-88897520 GRCh38: 14:88431176-88431176
31	SPATA7	NM_018418.5(SPATA7):c.1606A>G (p.Thr536Ala)	SNV	Uncertain significance	314791	rs200231959	GRCh37: 14:88904572-88904572 GRCh38: 14:88438228-88438228
32	SPATA7	NM_018418.5(SPATA7):c.19G>T (p.Val7Phe)	SNV	Uncertain significance	560510	rs371609982	GRCh37: 14:88852181-88852181 GRCh38: 14:88385837-88385837
33	SPATA7	NM_018418.5(SPATA7):c.1216-4C>T	SNV	Uncertain significance	314787	rs755958987	GRCh37: 14:88904178-88904178 GRCh38: 14:88437834-88437834
34	SPATA7	NM_018418.5(SPATA7):c.728G>A (p.Arg243His)	SNV	Uncertain significance	1035924		GRCh37: 14:88892931-88892931 GRCh38: 14:88426587-88426587
35	SPATA7	NM_018418.5(SPATA7):c.770G>A (p.Arg257His)	SNV	Uncertain significance	1038512		GRCh37: 14:88892973-88892973 GRCh38: 14:88426629-88426629
36	SPATA7	NM_018418.5(SPATA7):c.93T>A (p.Asn31Lys)	SNV	Uncertain significance	1038871		GRCh37: 14:88857798-88857798 GRCh38: 14:88391454-88391454
37	SPATA7	NM_018418.5(SPATA7):c.878A>C (p.Lys293Thr)	SNV	Uncertain significance	1039934		GRCh37: 14:88894006-88894006 GRCh38: 14:88427662-88427662
38	SPATA7	NM_018418.5(SPATA7):c.445T>A (p.Ser149Thr)	SNV	Uncertain significance	1040874		GRCh37: 14:88892648-88892648 GRCh38: 14:88426304-88426304
39	SPATA7	NM_018418.5(SPATA7):c.1280C>T (p.Ser427Leu)	SNV	Uncertain significance	1042095		GRCh37: 14:88904246-88904246 GRCh38: 14:88437902-88437902
40	SPATA7	NM_018418.5(SPATA7):c.1184G>A (p.Arg395Gln)	SNV	Uncertain significance	1042184		GRCh37: 14:88903910-88903910 GRCh38: 14:88437566-88437566
41	SPATA7	NM_018418.5(SPATA7):c.238+2dup	Duplication	Uncertain significance	1043714		GRCh37: 14:88862548-88862549 GRCh38: 14:88396204-88396205
42	SPATA7	NM_018418.5(SPATA7):c.296A>T (p.Glu99Val)	SNV	Uncertain significance	1045517		GRCh37: 14:88883112-88883112 GRCh38: 14:88416768-88416768
43	SPATA7	NM_018418.5(SPATA7):c.1490A>G (p.Lys497Arg)	SNV	Uncertain significance	497983	rs142122029	GRCh37: 14:88904456-88904456 GRCh38: 14:88438112-88438112
44	SPATA7	NM_018418.5(SPATA7):c.163C>T (p.His55Tyr)	SNV	Uncertain significance	958818		GRCh37: 14:88859805-88859805 GRCh38: 14:88393461-88393461
45	SPATA7	NM_018418.5(SPATA7):c.75C>G (p.His25Gln)	SNV	Uncertain significance	959162		GRCh37: 14:88857780-88857780 GRCh38: 14:88391436-88391436
46	SPATA7	NM_018418.5(SPATA7):c.899T>A (p.Met300Lys)	SNV	Uncertain significance	959404		GRCh37: 14:88894027-88894027 GRCh38: 14:88427683-88427683
47	SPATA7	NM_018418.5(SPATA7):c.1513A>G (p.Ile505Val)	SNV	Uncertain significance	963197		GRCh37: 14:88904479-88904479 GRCh38: 14:88438135-88438135
48	SPATA7	NM_018418.5(SPATA7):c.932A>G (p.Tyr311Cys)	SNV	Uncertain significance	844840		GRCh37: 14:88895711-88895711 GRCh38: 14:88429367-88429367
49	SPATA7	NM_018418.5(SPATA7):c.283_284delinsAG (p.Gln95Arg)	Indel	Uncertain significance	853414		GRCh37: 14:88883099-88883100 GRCh38: 14:88416755-88416756
50	SPATA7	NM_018418.5(SPATA7):c.1689del (p.Ser564fs)	Deletion	Uncertain significance	861010		GRCh37: 14:88904653-88904653 GRCh38: 14:88438309-88438309

Sources

Expression for Leber Congenital Amaurosis 3

Search GEO for disease gene expression data for Leber Congenital Amaurosis 3.

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Pathways for Leber Congenital Amaurosis 3

Pathways related to Leber Congenital Amaurosis 3 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	11.95	RPE65 RDH12 LRAT GUCY2D
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	11.45	RPE65 RDH12 LRAT GUCY2D
3	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁵	11.17	RPE65 RDH12 LRAT
4	Vitamin A and Carotenoid Metabolism ¹	10.98	RPE65 RDH12 LRAT
5	Visual Cycle in Retinal Rods ⁶³	10.9	RPE65 RDH12 LRAT GUCY2D

Sources

GO Terms for Leber Congenital Amaurosis 3

Cellular components related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.26	TULP1 SPATA7 RPE65 RD3 NPHP4 LRAT
2	cell projection	GO:0042995	9.91	TULP1 SPATA7 RPGRIP1 RD3 NPHP4 LCA5
3	cilium	GO:0005929	9.8	TULP1 RPGRIP1 NPHP4 LCA5 IQCB1 CEP290
4	microtubule organizing center	GO:0005815	9.76	NPHP4 LCA5 IQCB1 CEP290
5	ciliary basal body	GO:0036064	9.71	SPATA7 NPHP4 LCA5 CEP290
6	axoneme	GO:0005930	9.61	SPATA7 RPGRIP1 LCA5
7	photoreceptor inner segment	GO:0001917	9.55	TULP1 RDH12 RD3 CRB1 AIPL1
8	ciliary transition zone	GO:0035869	9.54	RPGRIP1 NPHP4 CEP290
9	photoreceptor outer segment	GO:0001750	9.43	TULP1 SPATA7 RD3 IQCB1 GUCY2D CRB1
10	photoreceptor connecting cilium	GO:0032391	9.1	SPATA7 RPGRIP1 NPHP4 LCA5 IQCB1 CEP290

Biological processes related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to stimulus	GO:0050896	9.9	TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3
2	retina development in camera-type eye	GO:0060041	9.73	TULP1 RPGRIP1 RPE65 RD3 NPHP4 CRB1
3	ciliary basal body-plasma membrane docking	GO:0097711	9.7	NPHP4 IQCB1 CEP290
4	retinoid metabolic process	GO:0001523	9.65	RPE65 RDH12 LRAT
5	eye photoreceptor cell development	GO:0042462	9.62	TULP1 RPGRIP1 CRB1 CEP290
6	retinol metabolic process	GO:0042572	9.61	RPE65 RDH12 LRAT
7	retina homeostasis	GO:0001895	9.58	TULP1 RPE65 AIPL1
8	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.55	GUCY2D AIPL1
9	photoreceptor cell outer segment organization	GO:0035845	9.54	NPHP4 CRB1
10	detection of light stimulus involved in visual perception	GO:0050908	9.54	TULP1 RPE65 CRB1
11	retina morphogenesis in camera-type eye	GO:0060042	9.51	RPE65 CRB1
12	photoreceptor cell maintenance	GO:0045494	9.5	TULP1 SPATA7 RDH12 NPHP4 LCA5 IQCB1
13	vitamin A metabolic process	GO:0006776	9.49	RPE65 LRAT
14	protein localization to photoreceptor outer segment	GO:1903546	9.46	TULP1 SPATA7
15	visual perception	GO:0007601	9.4	TULP1 SPATA7 RPGRIP1 RPE65 RDH12 RD3

Sources

Sources for Leber Congenital Amaurosis 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

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 NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Leber Congenital Amaurosis 3 (LCA3)

Aliases & Classifications for Leber Congenital Amaurosis 3

MalaCards integrated aliases for Leber Congenital Amaurosis 3:

Characteristics:

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Summaries for Leber Congenital Amaurosis 3

Related Diseases for Leber Congenital Amaurosis 3

Diseases in the Leber Congenital Amaurosis 4 family:

Diseases related to Leber Congenital Amaurosis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

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Expression for Leber Congenital Amaurosis 3

Pathways for Leber Congenital Amaurosis 3

Pathways related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

GO Terms for Leber Congenital Amaurosis 3

Cellular components related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

Biological processes related to Leber Congenital Amaurosis 3 according to GeneCards Suite gene sharing:

Sources for Leber Congenital Amaurosis 3