Leber Congenital Amaurosis 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

OMIM®: ⁵⁷ Leber congenital amaurosis-12 (LCA12) is characterized by congenital nystagmus, low vision, sluggish pupillary reflexes, absence of ocular pursuit from birth, early onset and long-lasting digitoocular signs of Franceschetti, and mild to moderate hyperopia. Photoaversion is usually present. Visual acuity, when measurable, is reduced to counting fingers, hand movements, or light perception (summary by Perrault et al., 2013). (610612) (Updated 08-Dec-2022)

MalaCards based summary: Leber Congenital Amaurosis 12, also known as lca12, is related to cone-rod dystrophy 6 and leber congenital amaurosis 1. An important gene associated with Leber Congenital Amaurosis 12 is RD3 (RD3 Regulator Of GUCY2D), and among its related pathways/superpathways are Olfactory Signaling Pathway and Visual phototransduction. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and abnormality of macular pigmentation

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 that has material basis in mutation in the RD3 gene on chromosome 1q32.

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Related Diseases for Leber Congenital Amaurosis 12

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

(show top 50) (show all 68)

#	Related Disease	Score	Top Affiliating Genes
1	cone-rod dystrophy 6	29.9	RD3 GUCY2F GUCY2D GUCA1B GUCA1A
2	leber congenital amaurosis 1	29.1	RPE65 RD3 LCA5 GUCY2F GUCY2D GUCA1A
3	retinal degeneration	28.5	SPATA7 RPE65 RD3 GUCY2D GUCA1B GUCA1A
4	leber plus disease	27.1	SPATA7 RPE65 RD3 LCA5 KCNJ13 IQCB1
5	retinal cone dystrophy 1	10.2	GUCY2D GUCA1A
6	cone-rod dystrophy 3	10.2	GUCY2D GUCA1A
7	progressive cone dystrophy	10.2	GUCY2D GUCA1A
8	cone-rod dystrophy 17	10.1	GUCY2D AIPL1
9	nephronophthisis 4	10.1	GUCA1B GUCA1A
10	occult macular dystrophy	10.1	GUCY2D GUCA1A
11	retinitis pigmentosa 38	10.1	GUCY2D AIPL1
12	intellectual developmental disorder, autosomal dominant 3	10.1	RD3 GUCY2D GUCA1B
13	pigmented paravenous chorioretinal atrophy	10.1	GUCY2D AIPL1
14	cold-induced sweating syndrome 3	10.1	RPE65 GUCY2D
15	blue cone monochromacy	10.0	GUCY2D GUCA1A
16	peripheral retinal degeneration	10.0
17	scotoma	10.0	RPE65 GUCY2D GUCA1A
18	choroid disease	9.9	RPE65 GUCY2D
19	hereditary retinal dystrophy	9.9	SPATA7 RPE65 GUCY2D
20	night blindness	9.9	RPE65 GUCY2D GRK1
21	cone-rod dystrophy 13	9.9	SPATA7 IQCB1
22	blood group, globoside system	9.9	RPE65 RD3 AIPL1
23	prolonged electroretinal response suppression	9.9	GUCA1A GRK1
24	physical disorder	9.9	RPE65 GUCY2D AIPL1
25	severe early-childhood-onset retinal dystrophy	9.8	SPATA7 RPE65 LCA5
26	retinal disease	9.8	RPE65 GUCY2D GUCA1A
27	partial central choroid dystrophy	9.8	RPE65 GUCY2D GUCA1B GUCA1A
28	fundus albipunctatus	9.8	RPE65 GUCY2D GRK1
29	hereditary choroidal atrophy	9.8	RPE65 GUCY2D GUCA1B GUCA1A
30	usher syndrome type 2	9.8	RPE65 GUCY2D GRK1
31	pseudopapilledema	9.8	RPE65 RD3 GUCY2D AIPL1
32	leber congenital amaurosis 7	9.8	SPATA7 LCA5 GUCY2D AIPL1
33	retinitis pigmentosa 3	9.8	IQCB1 GRK1
34	leber congenital amaurosis 6	9.8	SPATA7 LCA5 GUCY2D AIPL1
35	late-onset retinal degeneration	9.8	RPE65 GUCY2D GUCA1A AIPL1
36	gyrate atrophy of choroid and retina	9.8	RPE65 GUCA1A
37	vitelliform macular dystrophy	9.7	RPE65 GUCY2D GUCA1A GRK1
38	enhanced s-cone syndrome	9.6	RPE65 GUCY2D GRK1 AIPL1
39	retinoschisis 1, x-linked, juvenile	9.6	RPE65 GUCY2D GRK1 AIPL1
40	choroidal dystrophy, central areolar, 1	9.6	RPE65 GUCY2D GUCA1B GUCA1A AIPL1
41	nephronophthisis	9.6	SPATA7 LCA5 IQCB1
42	leber congenital amaurosis 8	9.5	SPATA7 RPE65 LCA5 GUCY2D AIPL1
43	leber congenital amaurosis 9	9.5	SPATA7 RPE65 LCA5 GUCY2D AIPL1
44	color blindness	9.5	RPE65 GUCY2D GUCA1A GRK1 AIPL1
45	leber congenital amaurosis 2	9.4	SPATA7 RPE65 RD3 LCA5 GUCY2D AIPL1
46	coloboma of macula	9.3	RPE65 LCA5 IQCB1 GUCY2D AIPL1
47	senior-loken syndrome 1	9.1	SPATA7 RPE65 LCA5 IQCB1 GUCY2D AIPL1
48	eye degenerative disease	9.1	RPE65 IQCB1 GUCY2D GUCA1A GRK1 AIPL1
49	leber congenital amaurosis 11	9.1	SPATA7 LCA5 KCNJ13 IQCB1 GUCY2D AIPL1
50	bardet-biedl syndrome	9.1	SPATA7 RPE65 LCA5 IQCB1 GUCY2D AIPL1

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis 12:

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Symptoms & Phenotypes for Leber Congenital Amaurosis 12

Human phenotypes related to Leber Congenital Amaurosis 12:

³⁰

#	Description	HPO Source Accession
1	nystagmus ³⁰	HP:0000639
2	abnormality of macular pigmentation ³⁰	HP:0008002
3	congenital blindness ³⁰	HP:0007875

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
attenuated retinal vessels
decreased color vision
absence of ocular pursuit since birth
digitoocular sign of franceschetti
progressively decreasing vision to light perception only
more

Clinical features from OMIM®:

610612 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Leber Congenital Amaurosis 12:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.65	AIPL1 GRK1 GUCA1A GUCY2D GUCY2F LCA5
2	vision/eye	MP:0005391	9.36	AIPL1 GRK1 GUCA1A GUCA1B GUCY2D GUCY2F

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Drugs & Therapeutics for Leber Congenital Amaurosis 12

Search Clinical Trials, NIH Clinical Center for Leber Congenital Amaurosis 12

Cochrane evidence based reviews: leber congenital amaurosis 12

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Genetic Tests for Leber Congenital Amaurosis 12

Genetic tests related to Leber Congenital Amaurosis 12:

#	Genetic test	Affiliating Genes
1	Leber Congenital Amaurosis 12 ²⁸	RD3

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Anatomical Context for Leber Congenital Amaurosis 12

Organs/tissues related to Leber Congenital Amaurosis 12:

MalaCards : Retina, Eye, Bone

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Publications for Leber Congenital Amaurosis 12

Articles related to Leber Congenital Amaurosis 12:

(show all 16)

#	Title	Authors	PMID	Year
1	Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. ⁶² ⁵⁷ ⁵	Perrault I...Rozet JM	23308101	2013
2	Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. ⁶² ⁵⁷ ⁵	Preising MN...Lorenz B	22531706	2012
3	Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. ⁵⁷ ⁵	Friedman JS...Swaroop A	17186464	2006
4	Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re-sequencing. ⁵	Srikrupa NN...Soumittra N	29068479	2018
5	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
6	Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. ⁵	Buratti E...Vorechovsky I	17576681	2007
7	Statistical features of human exons and their flanking regions. ⁵	Zhang MQ	9536098	1998
8	GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress. ⁶²	Plana-Bonamaiso A...Mendez A	31980596	2020
9	Control of the Nucleotide Cycle in Photoreceptor Cell Extracts by Retinal Degeneration Protein 3. ⁶²	Wimberg H...Koch KW	29515371	2018
10	Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. ⁶²	Chang B	27150101	2016
11	Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration, and Leber congenital amaurosis. ⁶²	Molday LL...Molday RS	24904271	2014
12	RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. ⁶²	Molday LL...Molday RS	23740938	2013
13	RD3: a challenge and a promise. ⁶²	Azadi S	25679013	2013
14	Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins. ⁶²	Peshenko IV...Dizhoor AM	21928830	2011
15	RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. ⁶²	Azadi S...Molday RS	21078983	2010
16	Leber Congenital Amaurosis – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY ⁶²	Weleber RG...Beattie C	20301475	2004

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Genes for Leber Congenital Amaurosis 12

Genes related to Leber Congenital Amaurosis 12 (1 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RD3	RD3 Regulator Of GUCY2D	Protein Coding	1016.56	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	9536098 17186464 17576681 (more) 22531706 23308101 27422788 29068479
2	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	7.54	DISEASES inferred ¹⁴
3	GUCA1A	Guanylate Cyclase Activator 1A	Protein Coding	7.35	DISEASES inferred ¹⁴
4	GUCA1B	Guanylate Cyclase Activator 1B	Protein Coding	7.16	DISEASES inferred ¹⁴
5	GUCY2F	Guanylate Cyclase 2F, Retinal	Protein Coding	6.88	DISEASES inferred ¹⁴
6	SPATA7	Spermatogenesis Associated 7	Protein Coding	6.12	DISEASES inferred ¹⁴
7	SLC25A18	Solute Carrier Family 25 Member 18	Protein Coding	6.04	DISEASES inferred ¹⁴
8	AIPL1	Aryl Hydrocarbon Receptor Interacting Protein Like 1	Protein Coding	6	DISEASES inferred ¹⁴
9	LCA5	Lebercilin LCA5	Protein Coding	5.96	DISEASES inferred ¹⁴
10	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	5.91	DISEASES inferred ¹⁴
11	KCNJ13	Potassium Inwardly Rectifying Channel Subfamily J Member 13	Protein Coding	5.81	DISEASES inferred ¹⁴
12	IQCB1	IQ Motif Containing B1	Protein Coding	5.8	DISEASES inferred ¹⁴
13	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	5.77	DISEASES inferred ¹⁴

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Variations for Leber Congenital Amaurosis 12

ClinVar genetic disease variations for Leber Congenital Amaurosis 12:

⁵ (show top 50) (show all 182)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RD3	NM_001164688.2(RD3):c.137_138del (p.Glu46fs)	DEL	Pathogenic	189793	rs786205149	GRCh37: 1:211654620-211654621 GRCh38: 1:211481278-211481279
2	RD3	NM_001164688.2(RD3):c.136G>T (p.Glu46Ter)	SNV	Pathogenic	189794	rs786205150	GRCh37: 1:211654622-211654622 GRCh38: 1:211481280-211481280
3	RD3	NM_001164688.2(RD3):c.13_14del (p.Ser5fs)	MICROSAT	Pathogenic	1458859		GRCh37: 1:211654744-211654745 GRCh38: 1:211481402-211481403
4	RD3	NM_001164688.2(RD3):c.296+1G>A	SNV	Pathogenic	13121	rs386834260	GRCh37: 1:211654461-211654461 GRCh38: 1:211481119-211481119
5	RD3	NM_001164688.2(RD3):c.112C>T (p.Arg38Ter)	SNV	Pathogenic	189792	rs786205148	GRCh37: 1:211654646-211654646 GRCh38: 1:211481304-211481304
6	RD3	NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter)	SNV	Pathogenic	189791	rs762631020	GRCh37: 1:211654578-211654578 GRCh38: 1:211481236-211481236
7	RD3	NM_001164688.2(RD3):c.296+1G>T	SNV	Pathogenic	1388540		GRCh37: 1:211654461-211654461 GRCh38: 1:211481119-211481119
8	RD3	NM_001164688.2(RD3):c.494A>C (p.Asp165Ala)	SNV	Conflicting Interpretations Of Pathogenicity	767424	rs149051185	GRCh37: 1:211652472-211652472 GRCh38: 1:211479130-211479130
9	RD3	NM_001164688.2(RD3):c.139C>T (p.Arg47Cys)	SNV	Conflicting Interpretations Of Pathogenicity	167572	rs34049451	GRCh37: 1:211654619-211654619 GRCh38: 1:211481277-211481277
10	RD3	NM_001164688.2(RD3):c.102G>A (p.Thr34=)	SNV	Conflicting Interpretations Of Pathogenicity	733845	rs199511076	GRCh37: 1:211654656-211654656 GRCh38: 1:211481314-211481314
11	RD3	NM_001164688.2(RD3):c.519G>A (p.Val173=)	SNV	Conflicting Interpretations Of Pathogenicity	772783	rs139419737	GRCh37: 1:211652447-211652447 GRCh38: 1:211479105-211479105
12	RD3	NM_001164688.2(RD3):c.283C>T (p.Pro95Ser)	SNV	Uncertain Significance	838670	rs759162527	GRCh37: 1:211654475-211654475 GRCh38: 1:211481133-211481133
13	RD3	NM_001164688.2(RD3):c.386T>A (p.Met129Lys)	SNV	Uncertain Significance	842065	rs1401610655	GRCh37: 1:211652580-211652580 GRCh38: 1:211479238-211479238
14	RD3	NM_001164688.2(RD3):c.473G>T (p.Arg158Leu)	SNV	Uncertain Significance	858743	rs748059354	GRCh37: 1:211652493-211652493 GRCh38: 1:211479151-211479151
15	RD3	NM_001164688.2(RD3):c.365T>G (p.Leu122Arg)	SNV	Uncertain Significance	1353278		GRCh37: 1:211652601-211652601 GRCh38: 1:211479259-211479259
16	RD3	NM_001164688.2(RD3):c.23G>A (p.Arg8Gln)	SNV	Uncertain Significance	1394609		GRCh37: 1:211654735-211654735 GRCh38: 1:211481393-211481393
17	RD3	NM_001164688.2(RD3):c.170G>T (p.Gly57Val)	SNV	Uncertain Significance	1403723		GRCh37: 1:211654588-211654588 GRCh38: 1:211481246-211481246
18	RD3	NM_001164688.2(RD3):c.545G>T (p.Arg182Leu)	SNV	Uncertain Significance	1425041		GRCh37: 1:211652421-211652421 GRCh38: 1:211479079-211479079
19	RD3	NM_001164688.2(RD3):c.2T>C (p.Met1Thr)	SNV	Uncertain Significance	1438092		GRCh37: 1:211654756-211654756 GRCh38: 1:211481414-211481414
20	RD3	NM_183059.2(RD3):c.-925G>A	SNV	Uncertain Significance	295300	rs182459299	GRCh37: 1:211666020-211666020 GRCh38: 1:211492678-211492678
21	RD3	NM_183059.2(RD3):c.-1118A>T	SNV	Uncertain Significance	295303	rs748107586	GRCh37: 1:211666213-211666213 GRCh38: 1:211492871-211492871
22	RD3	NM_183059.2(RD3):c.-712G>C	SNV	Uncertain Significance	295297	rs886045919	GRCh37: 1:211665807-211665807 GRCh38: 1:211492465-211492465
23	RD3	NM_183059.2(RD3):c.-505C>T	SNV	Uncertain Significance	295292	rs570507460	GRCh37: 1:211665600-211665600 GRCh38: 1:211492258-211492258
24	RD3	NM_183059.2(RD3):c.-572G>A	SNV	Uncertain Significance	295295	rs139370470	GRCh37: 1:211665667-211665667 GRCh38: 1:211492325-211492325
25	RD3	NM_183059.2(RD3):c.-714G>C	SNV	Uncertain Significance	295298	rs561881146	GRCh37: 1:211665809-211665809 GRCh38: 1:211492467-211492467
26	RD3	NM_183059.2(RD3):c.-1034G>A	SNV	Uncertain Significance	295301	rs146780723	GRCh37: 1:211666129-211666129 GRCh38: 1:211492787-211492787
27	RD3	NM_183059.2(RD3):c.-1120G>A	SNV	Uncertain Significance	295304	rs886045920	GRCh37: 1:211666215-211666215 GRCh38: 1:211492873-211492873
28	RD3	NM_183059.2(RD3):c.-495T>G	SNV	Uncertain Significance	295290	rs147349161	GRCh37: 1:211665590-211665590 GRCh38: 1:211492248-211492248
29	RD3	NM_183059.2(RD3):c.-539G>T	SNV	Uncertain Significance	295293	rs143497175	GRCh37: 1:211665634-211665634 GRCh38: 1:211492292-211492292
30	RD3	NM_183059.2(RD3):c.-640G>A	SNV	Uncertain Significance	295296	rs190249862	GRCh37: 1:211665735-211665735 GRCh38: 1:211492393-211492393
31	RD3	NM_183059.2(RD3):c.-884C>A	SNV	Uncertain Significance	295299	rs781387518	GRCh37: 1:211665979-211665979 GRCh38: 1:211492637-211492637
32	RD3	NM_183059.2(RD3):c.-1052C>A	SNV	Uncertain Significance	295302	rs187461760	GRCh37: 1:211666147-211666147 GRCh38: 1:211492805-211492805
33	RD3	NM_001164688.2(RD3):c.61C>T (p.Pro21Ser)	SNV	Uncertain Significance	1356076		GRCh37: 1:211654697-211654697 GRCh38: 1:211481355-211481355
34	RD3	NM_001164688.2(RD3):c.206C>T (p.Ser69Phe)	SNV	Uncertain Significance	1370807		GRCh37: 1:211654552-211654552 GRCh38: 1:211481210-211481210
35	RD3	NM_001164688.2(RD3):c.446G>T (p.Ser149Ile)	SNV	Uncertain Significance	1381527		GRCh37: 1:211652520-211652520 GRCh38: 1:211479178-211479178
36	RD3	NM_001164688.2(RD3):c.169G>T (p.Gly57Cys)	SNV	Uncertain Significance	1438168		GRCh37: 1:211654589-211654589 GRCh38: 1:211481247-211481247
37	RD3	NM_001164688.2(RD3):c.577A>G (p.Lys193Glu)	SNV	Uncertain Significance	1367419		GRCh37: 1:211652389-211652389 GRCh38: 1:211479047-211479047
38	RD3	NM_001164688.2(RD3):c.169G>A (p.Gly57Ser)	SNV	Uncertain Significance	1430354		GRCh37: 1:211654589-211654589 GRCh38: 1:211481247-211481247
39	RD3	NM_001164688.2(RD3):c.160G>T (p.Val54Phe)	SNV	Uncertain Significance	1492382		GRCh37: 1:211654598-211654598 GRCh38: 1:211481256-211481256
40	RD3	NM_001164688.2(RD3):c.148G>A (p.Ala50Thr)	SNV	Uncertain Significance	1506094		GRCh37: 1:211654610-211654610 GRCh38: 1:211481268-211481268
41	RD3	NM_001164688.2(RD3):c.61C>G (p.Pro21Ala)	SNV	Uncertain Significance	1351389		GRCh37: 1:211654697-211654697 GRCh38: 1:211481355-211481355
42	RD3	NM_001164688.2(RD3):c.587G>C (p.Ter196Ser)	SNV	Uncertain Significance	1501944		GRCh37: 1:211652379-211652379 GRCh38: 1:211479037-211479037
43	RD3	NM_183059.2(RD3):c.-504G>A	SNV	Uncertain Significance	295291	rs886045918	GRCh37: 1:211665599-211665599 GRCh38: 1:211492257-211492257
44	RD3	NM_183059.2(RD3):c.-556G>A	SNV	Uncertain Significance	295294	rs181065744	GRCh37: 1:211665651-211665651 GRCh38: 1:211492309-211492309
45	RD3	NM_001164688.2(RD3):c.404C>T (p.Ala135Val)	SNV	Uncertain Significance	1434987		GRCh37: 1:211652562-211652562 GRCh38: 1:211479220-211479220
46	RD3	NM_001164688.2(RD3):c.559C>G (p.Pro187Ala)	SNV	Uncertain Significance	1406305		GRCh37: 1:211652407-211652407 GRCh38: 1:211479065-211479065
47	RD3	NM_001164688.2(RD3):c.368A>T (p.Gln123Leu)	SNV	Uncertain Significance	1002125	rs764736043	GRCh37: 1:211652598-211652598 GRCh38: 1:211479256-211479256
48	RD3	NM_001164688.2(RD3):c.94G>C (p.Glu32Gln)	SNV	Uncertain Significance	844426	rs368003568	GRCh37: 1:211654664-211654664 GRCh38: 1:211481322-211481322
49	RD3	NM_001164688.2(RD3):c.202C>T (p.Arg68Trp)	SNV	Uncertain Significance	466320	rs144697496	GRCh37: 1:211654556-211654556 GRCh38: 1:211481214-211481214
50	RD3	NM_001164688.2(RD3):c.149C>A (p.Ala50Glu)	SNV	Uncertain Significance	1516779		GRCh37: 1:211654609-211654609 GRCh38: 1:211481267-211481267

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Expression for Leber Congenital Amaurosis 12

Search GEO for disease gene expression data for Leber Congenital Amaurosis 12.

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Pathways for Leber Congenital Amaurosis 12

Pathways related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Olfactory Signaling Pathway ⁶⁶ Show member pathways Expression and translocation of olfactory receptors ⁶⁶ Sensory Perception ⁶⁶	12.95	RPE65 GUCY2F GUCY2D GUCA1B GUCA1A GRK1
2	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	12.17	RPE65 GUCY2F GUCY2D GUCA1B GUCA1A GRK1
3	Ciliary landscape ⁷⁴	11.87	SPATA7 LCA5 IQCB1
4	Ciliopathies ⁷⁴	11.48	SPATA7 LCA5 IQCB1
5	Visual Cycle in Retinal Rods ⁶⁴	11.07	RPE65 GUCY2F GUCY2D GUCA1B GUCA1A GRK1
6	Visual signal transduction: Cones ⁶¹	10.62	RPE65 GUCY2F GUCY2D GRK1

Sources

GO Terms for Leber Congenital Amaurosis 12

Cellular components related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor inner segment	GO:0001917	9.97	RD3 GUCA1B GUCA1A AIPL1
2	photoreceptor connecting cilium	GO:0032391	9.88	SPATA7 LCA5 IQCB1
3	cell projection	GO:0042995	9.86	SPATA7 RD3 LCA5 GUCY2F GUCY2D GUCA1B
4	cone photoreceptor outer segment	GO:0120199	9.8	RD3 GUCA1B GUCA1A
5	photoreceptor disc membrane	GO:0097381	9.65	GUCY2F GUCY2D GUCA1B GUCA1A GRK1
6	rod photoreceptor outer segment	GO:0120200	9.63	GUCY2F RD3 SPATA7
7	photoreceptor outer segment	GO:0001750	9.32	SPATA7 RD3 IQCB1 GUCY2D GUCA1B GUCA1A

Biological processes related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	photoreceptor cell maintenance	GO:0045494	9.85	SPATA7 LCA5 IQCB1
2	cGMP-mediated signaling	GO:0019934	9.8	GUCY2F GUCY2D
3	detection of light stimulus involved in visual perception	GO:0050908	9.78	RPE65 GUCY2F
4	positive regulation of guanylate cyclase activity	GO:0031284	9.76	GUCA1B GUCA1A
5	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.76	AIPL1 GRK1 GUCY2D GUCY2F
6	cGMP biosynthetic process	GO:0006182	9.73	GUCY2F GUCY2D
7	receptor guanylyl cyclase signaling pathway	GO:0007168	9.73	GUCY2F GUCY2D GUCA1B
8	response to stimulus	GO:0050896	9.7	SPATA7 RPE65 RD3 GUCY2F GUCY2D GUCA1B
9	visual perception	GO:0007601	9.58	SPATA7 RPE65 RD3 GUCY2F GUCY2D GUCA1B
10	regulation of guanylate cyclase activity	GO:0031282	9.5	GUCA1B GUCA1A
11	cyclic nucleotide biosynthetic process	GO:0009190	9.4	GUCY2F GUCY2D

Molecular functions related to Leber Congenital Amaurosis 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	guanylate cyclase activity	GO:0004383	9.46	GUCY2F GUCY2D
2	phosphorus-oxygen lyase activity	GO:0016849	9.26	GUCY2F GUCY2D
3	calcium sensitive guanylate cyclase activator activity	GO:0008048	9.26	GUCA1B GUCA1A
4	peptide receptor activity	GO:0001653	8.92	GUCY2F GUCY2D

Sources

Sources for Leber Congenital Amaurosis 12

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

LCA12 MCID: LBR007 MIFTS: 44	Leber Congenital Amaurosis 12 (LCA12) Categories: Eye diseases, Genetic diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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Leber Congenital Amaurosis 12 (LCA12)

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