Details of Disease

Disease Name

Leber congenital amaurosis 1

CRB; amaurosis congenita of Leber 1; LCA; amaurosis congenita of Leber, type 1; retinal blindness, congenital; amaurosis congenita of Leber I; Leber congenital amaurosis type 1; Leber congenital amaurosis 1; GUCY2D Leber congenital amaurosis; Leber congenital amaurosis caused by mutation in GUCY2D; LCA1

Definition

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.

Disease Hierarchy

DISR72NR: GUCY2D-related recessive retinopathy

DISMGH8F: Leber congenital amaurosis

DISY2B33: Leber congenital amaurosis 1

Disease Identifiers

MONDO ID

MONDO_0008764

MESH ID

C536600

UMLS CUI

C2931258

OMIM ID

204000

MedGen ID

419026

General Information of Disease (ID: DISY2B33)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CNTLN	TT8MI6U	moderate	Genetic Variation	[1]
CACNA1F	TTJ0SO4	Strong	Genetic Variation	[2]
IMPDH1	TT3GRLK	Strong	Genetic Variation	[3]
MERTK	TTO7LKR	Strong	Genetic Variation	[4]
PCYT1B	TTUAIKM	Strong	Genetic Variation	[5]
PTPRC	TTUS45N	Strong	Biomarker	[6]
RHO	TTH0KSX	Strong	Biomarker	[7]
GUCY2D	TTWNFC2	Definitive	Autosomal recessive	[8]
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⏷ Show the Full List of 8 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A12	DTZOKFJ	Limited	Posttranslational Modification	[9]
SLC25A22	DTJCWP8	Strong	Genetic Variation	[10]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DIO3	DET89OV	Limited	Altered Expression	[11]
NMNAT1	DE4D159	Strong	Genetic Variation	[12]
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This Disease Is Related to 33 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNAT2	OTD9Y4UH	Limited	Altered Expression	[11]
GRB10	OTCKXGRC	Limited	Altered Expression	[11]
GRK1	OT7MPSG7	Limited	Genetic Variation	[13]
GUCA2A	OTUSF75G	Limited	Genetic Variation	[14]
NRL	OT65MFKQ	Limited	Genetic Variation	[15]
POC1B	OTDIMIRZ	Limited	Genetic Variation	[16]
PRPH2	OTNH2G5H	Limited	Genetic Variation	[17]
RBP3	OTIWM4GT	Limited	Altered Expression	[11]
RHEB	OTFLTSEC	Limited	Biomarker	[18]
SH2D3A	OTVJBSRC	Limited	Biomarker	[19]
RPGRIP1	OTABESO9	Disputed	Genetic Variation	[20]
CABP4	OTL0TRR5	moderate	Genetic Variation	[21]
LCA5	OTQTCUWS	moderate	Biomarker	[22]
NUB1	OTWA6RTX	moderate	Biomarker	[23]
PDE6B	OTOJMB1V	moderate	Genetic Variation	[24]
AIPL1	OT4VBD78	Strong	Genetic Variation	[25]
CCT2	OTW1VV4E	Strong	Genetic Variation	[26]
CLTA	OTLHOXMQ	Strong	Biomarker	[6]
CRB2	OTG0L2CE	Strong	Biomarker	[27]
CRX	OTH435SV	Strong	Genetic Variation	[28]
CTNNA1	OTFC725Z	Strong	Genetic Variation	[29]
CYP4V2	OTQKNK0D	Strong	Genetic Variation	[29]
IFT140	OT6KO5FH	Strong	Genetic Variation	[30]
LRAT	OTB7CJKY	Strong	Genetic Variation	[31]
NR2E3	OTO3GBHQ	Strong	Genetic Variation	[2]
NYX	OTAGXLYP	Strong	Genetic Variation	[2]
RD3	OT2L9Y6M	Strong	Biomarker	[14]
RDH12	OTELFRRJ	Strong	Genetic Variation	[32]
RPE	OT0XT3JU	Strong	Genetic Variation	[33]
SLC7A14	OT07YJW4	Strong	Genetic Variation	[34]
SPATA7	OT78G2IH	Strong	Biomarker	[35]
GUCY2D	OT81UJI0	Definitive	Autosomal recessive	[8]
KCNJ13	OTG1CNND	Definitive	Genetic Variation	[36]
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⏷ Show the Full List of 33 DOT(s)

References

1	Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.Hum Gene Ther. 2018 Jan;29(1):42-50. doi: 10.1089/hum.2017.049. Epub 2017 Jul 5.
2	Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).Ophthalmic Genet. 2002 Jun;23(2):71-97. doi: 10.1076/opge.23.2.71.2214.
3	Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42. doi: 10.1167/iovs.05-0868.
4	Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.PLoS One. 2011;6(5):e19458. doi: 10.1371/journal.pone.0019458. Epub 2011 May 13.
5	CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. Sci Rep. 2016 Sep 20;6:33742. doi: 10.1038/srep33742.
6	Cutaneous spindled follicle center cell lymphoma with abundant mucin: A diagnostic pitfall.J Cutan Pathol. 2020 Apr;47(4):394-397. doi: 10.1111/cup.13609. Epub 2019 Nov 27.
7	In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies.Exp Eye Res. 2019 Sep;186:107721. doi: 10.1016/j.exer.2019.107721. Epub 2019 Jul 11.
8	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
9	Lack of Aberrant Methylation in an Adjacent Area of Left-Sided Colorectal Cancer.Yonsei Med J. 2017 Jul;58(4):749-755. doi: 10.3349/ymj.2017.58.4.749.
10	Bicistronic lentiviruses containing a viral 2A cleavage sequence reliably co-express two proteins and restore vision to an animal model of LCA1.PLoS One. 2011;6(5):e20553. doi: 10.1371/journal.pone.0020553. Epub 2011 May 27.
11	Overexpression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice.Adv Exp Med Biol. 2018;1074:125-131. doi: 10.1007/978-3-319-75402-4_16.
12	NMNAT1 variants cause cone and cone-rod dystrophy.Eur J Hum Genet. 2018 Mar;26(3):428-433. doi: 10.1038/s41431-017-0029-7. Epub 2017 Nov 28.
13	Combined rod and cone transduction by adeno-associated virus 2/8.Hum Gene Ther. 2013 Dec;24(12):982-92. doi: 10.1089/hum.2013.154. Epub 2013 Oct 30.
14	Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.J Biol Chem. 2015 Feb 6;290(6):3488-99. doi: 10.1074/jbc.M114.616656. Epub 2014 Dec 4.
15	Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.Mol Vis. 2003 Jan 24;9:14-7.
16	Mutation of POC1B in a severe syndromic retinal ciliopathy.Hum Mutat. 2014 Oct;35(10):1153-62. doi: 10.1002/humu.22618. Epub 2014 Aug 11.
17	Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.J Med Genet. 2013 Oct;50(10):674-88. doi: 10.1136/jmedgenet-2013-101558. Epub 2013 Jul 11.
18	Licochalcone A restrains microphthalmia-associated transcription factor expression and growth by activating autophagy in melanoma cells via miR-142-3p/Rheb/mTOR pathway.Phytother Res. 2020 Feb;34(2):349-358. doi: 10.1002/ptr.6525. Epub 2019 Dec 2.
19	Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases.J Hum Genet. 2016 Nov;61(11):951-958. doi: 10.1038/jhg.2016.83. Epub 2016 Jul 7.
20	Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.J Cell Mol Med. 2018 Mar;22(3):1733-1742. doi: 10.1111/jcmm.13454. Epub 2017 Nov 29.
21	A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.Mol Vis. 2010 Feb 10;16:207-12.
22	Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking.Biochim Biophys Acta Mol Basis Dis. 2019 Oct 1;1865(10):2694-2705. doi: 10.1016/j.bbadis.2019.07.009. Epub 2019 Jul 23.
23	Abolished interaction of NUB1 with mutant AIPL1 involved in Leber congenital amaurosis.Biochem Biophys Res Commun. 2004 May 7;317(3):768-73. doi: 10.1016/j.bbrc.2004.03.108.
24	Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis.Hum Mutat. 1992;1(6):478-85. doi: 10.1002/humu.1380010605.
25	The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors.Adv Exp Med Biol. 2018;1074:381-386. doi: 10.1007/978-3-319-75402-4_47.
26	Mutation in the Zebrafish cct2 Gene Leads to Abnormalities of Cell Cycle and Cell Death in the Retina: A Model of CCT2-Related Leber Congenital Amaurosis.Invest Ophthalmol Vis Sci. 2018 Feb 1;59(2):995-1004. doi: 10.1167/iovs.17-22919.
27	Loss of CRB2 in Mller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype.Hum Mol Genet. 2019 Jan 1;28(1):105-123. doi: 10.1093/hmg/ddy337.
28	Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis.Stem Cell Res. 2019 Jul;38:101476. doi: 10.1016/j.scr.2019.101476. Epub 2019 Jun 3.
29	Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2413-2420. doi: 10.1167/iovs.16-21322.
30	Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015 Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x. Epub 2015 Jul 28.
31	Pathophysilogical mechanism and treatment strategies for Leber congenital amaurosis.Adv Exp Med Biol. 2014;801:791-6. doi: 10.1007/978-1-4614-3209-8_99.
32	A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.Ophthalmic Genet. 2019 Apr;40(2):110-117. doi: 10.1080/13816810.2019.1582069. Epub 2019 Mar 14.
33	Leber's congenital amaurosis and the role of gene therapy in congenital retinal disorders.Int J Ophthalmol. 2017 Mar 18;10(3):480-484. doi: 10.18240/ijo.2017.03.24. eCollection 2017.
34	Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy.Ophthalmic Genet. 2019 Apr;40(2):118-123. doi: 10.1080/13816810.2019.1586964. Epub 2019 Mar 29.
35	Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.Exp Eye Res. 2018 Jan;166:120-130. doi: 10.1016/j.exer.2017.10.015. Epub 2017 Oct 31.
36	Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy.Sci Rep. 2019 Mar 7;9(1):3793. doi: 10.1038/s41598-019-40507-8.