Details of Disease

Disease Name

Retinal degeneration

degeneration of retina; retina degeneration; retina, Degeneration Of

Definition

Degeneration of the retina.

Disease Hierarchy

DISB4B0F: Retinopathy

DISM1JHQ: Retinal degeneration

Disease Identifiers

MONDO ID

MONDO_0004580

MESH ID

D012162

UMLS CUI

C0035304

MedGen ID

48432

HPO ID

HP:0000546

SNOMED CT ID

95695004

General Information of Disease (ID: DISM1JHQ)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 19 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SOD1	TTP9K3Q	Limited	Therapeutic	[1]
ARG2	TTV1AG6	moderate	Biomarker	[2]
GDNF	TTF23ML	moderate	Biomarker	[3]
RHO	TTH0KSX	moderate	Biomarker	[4]
BCL2	TTFOUV4	Strong	Biomarker	[5]
BDNF	TTSMLOH	Strong	Therapeutic	[6]
C3	TTJGY7A	Strong	Biomarker	[7]
CFB	TTA0P7K	Strong	Therapeutic	[7]
CFH	TTUW6OP	Strong	Biomarker	[7]
CLU	TTRL76H	Strong	Therapeutic	[8]
DMD	TTWLFXU	Strong	ModifyingMutation	[9]
IMPDH1	TT3GRLK	Strong	Genetic Variation	[10]
KCNJ10	TTG140O	Strong	Biomarker	[11]
MERTK	TTO7LKR	Strong	Therapeutic	[12]
RPE65	TTBOH16	Strong	Biomarker	[13]
RPGR	TTHBDA9	Strong	Biomarker	[14]
SLC1A1	TTG2A6F	Strong	Biomarker	[15]
CCL2	TTNAY0P	Definitive	Biomarker	[16]
CX3CR1	TT2T98G	Definitive	Biomarker	[16]
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⏷ Show the Full List of 19 DTT(s)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NMNAT1	DE4D159	Strong	Biomarker	[17]
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This Disease Is Related to 22 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PITPNM1	OTIUYAG5	Limited	Genetic Variation	[18]
RAX2	OT1HD6CF	Limited	Biomarker	[19]
CERKL	OTG4YGBR	Disputed	Genetic Variation	[20]
CRX	OTH435SV	moderate	Biomarker	[21]
PDE6B	OTOJMB1V	moderate	Biomarker	[22]
RPGRIP1L	OT6Z069I	moderate	Biomarker	[14]
AHI1	OT8K2YWY	Strong	Biomarker	[23]
ATXN7	OTL3YF1H	Strong	Altered Expression	[24]
C1QTNF5	OTLKU5I2	Strong	Biomarker	[25]
CP	OTM8JE4Y	Strong	Biomarker	[26]
CRYGC	OTYSTQWI	Strong	Biomarker	[27]
IFT80	OTMH0MBI	Strong	Biomarker	[28]
MFRP	OTHY9ZA5	Strong	Biomarker	[29]
NPHP1	OTZHCFFQ	Strong	Biomarker	[30]
NR2E3	OTO3GBHQ	Strong	Biomarker	[31]
NRL	OT65MFKQ	Strong	Biomarker	[32]
OFD1	OTAZW5TK	Strong	Biomarker	[33]
PRPF3	OTUA4OLZ	Strong	Genetic Variation	[34]
RDH12	OTELFRRJ	Strong	Biomarker	[35]
RGR	OTKCF5AZ	Strong	Genetic Variation	[36]
RRH	OTKHIYYT	Strong	Biomarker	[37]
BBS1	OTXSXB1K	Definitive	Biomarker	[38]
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⏷ Show the Full List of 22 DOT(s)

References

1	Retinal ion regulation in a mouse model of diabetic retinopathy: natural history and the effect of Cu/Zn superoxide dismutase overexpression.Invest Ophthalmol Vis Sci. 2009 May;50(5):2351-8. doi: 10.1167/iovs.08-2918. Epub 2008 Dec 13.
2	Retinal Neuroprotection From Optic Nerve Trauma by Deletion of Arginase 2.Front Neurosci. 2018 Dec 20;12:970. doi: 10.3389/fnins.2018.00970. eCollection 2018.
3	Increased expression of glial cell line-derived neurotrophic factor protects against oxidative damage-induced retinal degeneration.J Neurochem. 2007 Nov;103(3):1041-52. doi: 10.1111/j.1471-4159.2007.04839.x.
4	A cellular high-throughput screening approach for therapeutic trans-cleaving ribozymes and RNAi against arbitrary mRNA disease targets.Exp Eye Res. 2016 Oct;151:236-55. doi: 10.1016/j.exer.2016.05.020. Epub 2016 May 25.
5	Upregulation of CREM-1 relates to retinal ganglion cells apoptosis after light-induced damage in vivo.J Mol Neurosci. 2014 Mar;52(3):331-8. doi: 10.1007/s12031-013-0153-y. Epub 2013 Oct 30.
6	Protective effect against ischemia and light damage of iris pigment epithelial cells transfected with the BDNF gene.Invest Ophthalmol Vis Sci. 2002 Dec;43(12):3744-53.
7	Complement deposition and microglial activation in the outer retina in light-induced retinopathy: inhibition by a 5-HT1A agonist.Invest Ophthalmol Vis Sci. 2011 Oct 11;52(11):8108-16. doi: 10.1167/iovs.10-6418.
8	Citicoline reduces upregulated clusterin following kainic acid injection in the rat retina.Curr Eye Res. 2007 Dec;32(12):1055-63. doi: 10.1080/02713680701758719.
9	Differential distribution of dystrophins in rat retina.Invest Ophthalmol Vis Sci. 1999 Jun;40(7):1520-9.
10	Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.Am J Ophthalmol. 2005 Nov;140(5):858-867. doi: 10.1016/j.ajo.2005.05.027. Epub 2005 Oct 7.
11	The changes of potassium currents in RCS rat Mller cell during retinal degeneration.Brain Res. 2012 Jan 3;1427:78-87. doi: 10.1016/j.brainres.2011.10.011. Epub 2011 Oct 12.
12	Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of Mertk. Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12584-9. doi: 10.1073/pnas.221364198. Epub 2001 Oct 9.
13	Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites.J Biol Chem. 2014 Jul 4;289(27):18943-56. doi: 10.1074/jbc.M114.552117. Epub 2014 May 21.
14	A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.Nat Genet. 2009 Jun;41(6):739-45. doi: 10.1038/ng.366. Epub 2009 May 10.
15	Edaravone suppresses retinal ganglion cell death in a mouse model of normal tension glaucoma.Cell Death Dis. 2017 Jul 13;8(7):e2934. doi: 10.1038/cddis.2017.341.
16	The effects of quercetin in cultured human RPE cells under oxidative stress and in Ccl2/Cx3cr1 double deficient mice. Exp Eye Res. 2010 Jul;91(1):15-25.
17	Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.Nat Genet. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29.
18	Targeting of Nir2 to lipid droplets is regulated by a specific threonine residue within its PI-transfer domain.Curr Biol. 2002 Sep 3;12(17):1513-8. doi: 10.1016/s0960-9822(02)01107-7.
19	QRX, a novel homeobox gene, modulates photoreceptor gene expression. Hum Mol Genet. 2004 May 15;13(10):1025-40. doi: 10.1093/hmg/ddh117. Epub 2004 Mar 17.
20	A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.Mol Vis. 2008;14:1960-4. Epub 2008 Oct 30.
21	A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.Am J Hum Genet. 1998 Nov;63(5):1307-15. doi: 10.1086/302101.
22	Degeneration modulates retinal response to transient exogenous oxidative injury.PLoS One. 2014 Feb 21;9(2):e87751. doi: 10.1371/journal.pone.0087751. eCollection 2014.
23	AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.Nat Genet. 2010 Feb;42(2):175-80. doi: 10.1038/ng.519. Epub 2010 Jan 17.
24	Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration.Proc Natl Acad Sci U S A. 2005 Jun 14;102(24):8472-7. doi: 10.1073/pnas.0503505102. Epub 2005 Jun 2.
25	Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration.Adv Exp Med Biol. 2006;572:41-8. doi: 10.1007/0-387-32442-9_7.
26	Aceruloplasminemia, an inherited disorder of iron metabolism. Biometals. 2003 Mar;16(1):205-13. doi: 10.1023/a:1020775101654.
27	Genetic, age and light mediated effects on crystallin protein expression in the retina.Photochem Photobiol. 2006 Jul-Aug;82(4):1088-96. doi: 10.1562/2005-06-30-RA-599.
28	IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet. 2007 Jun;39(6):727-9. doi: 10.1038/ng2038. Epub 2007 Apr 29.
29	A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis. 2006 Dec 4;12:1483-9.
30	Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia.J Am Soc Nephrol. 2006 Sep;17(9):2424-33. doi: 10.1681/ASN.2005121351. Epub 2006 Aug 2.
31	Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol. 2003 Sep;121(9):1316-23. doi: 10.1001/archopht.121.9.1316.
32	Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.Proc Natl Acad Sci U S A. 2004 Dec 21;101(51):17819-24. doi: 10.1073/pnas.0408183101. Epub 2004 Dec 9.
33	OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models.PLoS One. 2016 May 19;11(5):e0155860. doi: 10.1371/journal.pone.0155860. eCollection 2016.
34	Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.Hum Mol Genet. 2007 Jul 15;16(14):1699-707. doi: 10.1093/hmg/ddm118. Epub 2007 May 20.
35	Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet. 2005 Dec 15;14(24):3865-75. doi: 10.1093/hmg/ddi411. Epub 2005 Nov 3.
36	Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene.J Biol Chem. 2006 Aug 4;281(31):22289-22298. doi: 10.1074/jbc.M602664200. Epub 2006 May 31.
37	Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases.Mol Vis. 2006 Dec 5;12:1511-5.
38	Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.Invest Ophthalmol Vis Sci. 2006 Nov;47(11):5004-10. doi: 10.1167/iovs.06-0517.