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LORD
MCID: LTN004
MIFTS: 59

Late-Onset Retinal Degeneration (LORD)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Late-Onset Retinal Degeneration

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MalaCards integrated aliases for Late-Onset Retinal Degeneration:

Name: Late-Onset Retinal Degeneration 56 12 52 58 73 36 29 6 15 71
Lord 56 12 52 58 73
Retinal Degeneration, Late-Onset, Autosomal Dominant 56 52 13
Autosomal Dominant Late-Onset Retinal Degeneration 12 52 58
Retinal Degeneration, Late-Onset 39
Pigmentary Retinopathy 52
Retinitis Pigmentosa 71

Characteristics:

Orphanet epidemiological data:

58
late-onset retinal degeneration
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
late-onset retinal degeneration:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060869
OMIM 56 605670
KEGG 36 H01130
UMLS via Orphanet 72 C1854065
Orphanet 58 ORPHA67042
MedGen 41 C1854065
UMLS 71 C0035334 C1854065
Sources

Summaries for Late-Onset Retinal Degeneration

About this section
NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 67042 Definition Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. Visit the Orphanet disease page for more resources.

MalaCards based summary : Late-Onset Retinal Degeneration, also known as lord, is related to retinal degeneration and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Late-Onset Retinal Degeneration is C1QTNF5 (C1q And TNF Related 5), and among its related pathways/superpathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Amino Acid metabolism. The drugs Sodium citrate and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and retina, and related phenotypes are blindness and retinopathy

Disease Ontology : 12 A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material basis in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.

OMIM : 56 Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003). (605670)

KEGG : 36 Late-onset retinal degeneration (LORD) is a rare autosomal dominant ocular disease characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits between the retinal pigment epithelium (RPE) and Bruch's membrane, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. LORD is caused by a mutation in the CTRP5 (C1QTNF5) gene, which encodes a short-chain collagen, changing a highly conserved serine to arginine (Ser163Arg). The mutation results in abnormal high molecular weight aggregate formation which may alter its higher-order structure and interactions.

UniProtKB/Swiss-Prot : 73 Late-onset retinal degeneration: Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy.

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Related Diseases for Late-Onset Retinal Degeneration

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Diseases in the Retinal Degeneration family:

Late-Onset Retinal Degeneration

Diseases related to Late-Onset Retinal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 292)
# Related Disease Score Top Affiliating Genes
1 retinal degeneration 31.3 RHO PRCD MFRP CRB1 C1QTNF5
2 yemenite deaf-blind hypopigmentation syndrome 30.9 RHO CRB1
3 retinitis 30.7 RHO EYS CRB1
4 pathologic nystagmus 30.6 TYR RHO CRB1
5 scotoma 30.6 RHO EYS CRB1
6 nanophthalmos 30.4 RHO MFRP CRB1 C1QTNF5
7 usher syndrome 30.4 WHRN RHO EYS CRB1
8 fundus albipunctatus 30.4 RHO EYS CRB1
9 stargardt disease 30.3 RHO EYS CRB1
10 achromatopsia 30.2 RHO PRCD EYS CRB1
11 inherited retinal disorder 30.2 RHO PRCD MFRP EYS CRB1 C1QTNF5
12 fundus dystrophy 30.2 WHRN TYR RHO PRCD MFRP EYS
13 retinitis pigmentosa 30.0 WHRN TYR RHO PRODH PRCD MFRP
14 leber plus disease 30.0 WHRN RHO PRCD EYS CRB1
15 bardet-biedl syndrome 29.9 WHRN RHO EYS CRB1
16 macular retinal edema 29.9 RHO CRB1
17 hardikar syndrome 12.2
18 kearns-sayre syndrome 11.8
19 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 11.7
20 retinopathy, pericentral pigmentary, dominant 11.7
21 retinopathy, pericentral pigmentary, autosomal recessive 11.7
22 cockayne syndrome a 11.7
23 myopathy, mitochondrial, and ataxia 11.6
24 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 11.5
25 cockayne syndrome 11.5
26 mitochondrial trifunctional protein deficiency 11.4
27 bardet-biedl syndrome 12 11.4
28 spinocerebellar ataxia 7 11.4
29 retinopathy, pigmentary, and mental retardation 11.4
30 bardet-biedl syndrome 1 11.3
31 neurodegeneration with brain iron accumulation 1 11.3
32 cockayne syndrome b 11.2
33 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
34 retinitis pigmentosa 1 11.2
35 retinitis pigmentosa 9 11.2
36 retinitis pigmentosa 10 11.2
37 cystinosis, late-onset juvenile or adolescent nephropathic type 11.2
38 ramon syndrome 11.2
39 xeroderma pigmentosum, complementation group d 11.2
40 xeroderma pigmentosum, complementation group f 11.2
41 xeroderma pigmentosum, complementation group g 11.2
42 retinitis pigmentosa 3 11.2
43 retinitis pigmentosa 23 11.2
44 retinitis pigmentosa 2 11.2
45 diabetes and deafness, maternally inherited 11.2
46 retinitis pigmentosa 13 11.2
47 retinitis pigmentosa 12 11.2
48 retinitis pigmentosa 14 11.2
49 retinitis pigmentosa 11 11.2
50 bardet-biedl syndrome 3 11.2

Graphical network of the top 20 diseases related to Late-Onset Retinal Degeneration:



Diseases related to Late-Onset Retinal Degeneration
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Symptoms & Phenotypes for Late-Onset Retinal Degeneration

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Human phenotypes related to Late-Onset Retinal Degeneration:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 retinopathy 31 HP:0000488
3 rod-cone dystrophy 31 HP:0000510
4 scotoma 31 HP:0000575
5 retinal degeneration 31 HP:0000546
6 visual loss 31 HP:0000572
7 adult-onset night blindness 31 HP:0007830
8 sub-rpe deposits 31 HP:0031531

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
night blindness beginning in the 6th decade
vision loss, severe, by the 8th decade
punctate yellow-white sub-retinal pigment epithelium (rpe) lesions
retinopathy may resemble retinitis pigmentosa
abnormal dark-adaptation, midperipheral scotoma
more

Clinical features from OMIM:

605670

MGI Mouse Phenotypes related to Late-Onset Retinal Degeneration:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 C1QTNF2 C1QTNF5 CRB1 DAO NPL PLA2G5
2 pigmentation MP:0001186 9.17 C1QTNF5 CRB1 MFRP PRODH RHO TDO2
Sources

Drugs & Therapeutics for Late-Onset Retinal Degeneration

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Drugs for Late-Onset Retinal Degeneration (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 141)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Ranibizumab Approved Phase 4 347396-82-1 459903
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
4 Citrate Phase 4
5 Sildenafil Citrate Phase 4 171599-83-0
6 Phosphodiesterase Inhibitors Phase 4
7 Phosphodiesterase 5 Inhibitors Phase 4
8 Vasodilator Agents Phase 4
9 Immunoglobulins Phase 4
10 Antibodies Phase 4
11 Angiogenesis Inhibitors Phase 4
12 Vardenafil Dihydrochloride Phase 4
13 Hormones Phase 4
14 Hormone Antagonists Phase 4
15 Adrenocorticotropic Hormone Phase 4
16 Melanocyte-Stimulating Hormones Phase 4
17 beta-Endorphin Phase 4
18
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
19
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 6433159
20
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
21
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
22
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
23 Tocotrienol Investigational Phase 3 6829-55-6
24 Trace Elements Phase 3
25 Vitamins Phase 3
26 Nutrients Phase 3
27 Micronutrients Phase 3
28 Calciferol Phase 3
29 Tocotrienols Phase 3
30 Tocopherols Phase 3
31 Pharmaceutical Solutions Phase 2, Phase 3
32 Retinol palmitate Phase 2, Phase 3
33 retinol Phase 2, Phase 3
34 Lecithin Phase 2, Phase 3
35 Antihypertensive Agents Phase 3
36 Isopropyl unoprostone Phase 3
37
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
38
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
39
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
40
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
41
Iodine Approved, Investigational Phase 2 7553-56-2 807
42
Povidone Approved Phase 2 9003-39-8
43
Povidone-iodine Approved Phase 2 25655-41-8
44
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
45
Brinzolamide Approved Phase 2 138890-62-7 68844
46
Levodopa Approved Phase 2 59-92-7 6047
47
Carbidopa Approved Phase 2 28860-95-9 34359
48
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
49
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
50
Hydroxychloroquine Approved Phase 1, Phase 2 118-42-3 3652

Interventional clinical trials:

(show top 50) (show all 212)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, 3-arm Parallel Trial to Evaluate the Safety and Clinical Effectiveness of 2 Lower Dose Combined PDE5i's vs. Single Maximal Dose PDE5i Treatment Unknown status NCT00498680 Phase 4 Sildenafil, Vardenafil;Sildenafil;Vardenafil;Sildenafil & Vardenafil
2 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
3 Correlation of Functional and Structural Outcomes With Serum Antibody Profiles in Patients With Neovascular Age-related Macular Degeneration Treated With Ranibizumab and Healthy Subjects: A Prospective, Controlled Monocenter Trial Completed NCT02843490 Phase 4 Ranibizumab
4 An Integrated Approach With Vardenafil Orodispersible and Cognitive-behavioral Sex Therapy for the Treatment of Erectile Dysfunction (STEDOV) Completed NCT02450188 Phase 4 Vardenafil
5 Modeling and Treating the Pathophysiology of Demyelination in Multiple Sclerosis Terminated NCT00854750 Phase 4 ACTHAR;ACTHAR;ACTHAR;ACTHAR
6 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
7 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
8 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
9 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
10 A Dose Escalation (Phase 1), and Dose Expansion (Phase 2/3) Clinical Trial of Retinal Gene Therapy for X-linked Retinitis Pigmentosa Using an Adeno-Associated Viral Vector (AAV8) Encoding Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03116113 Phase 2, Phase 3
11 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Patients With Retinitis Pigmentosa Recruiting NCT01680510 Phase 2, Phase 3
12 Management of Low Risk Ductal Carcinoma in Situ (Low-risk DCIS): a Randomized, Multicentre, Non-inferiority Trial, Between Standard Therapy Approach Versus Active Surveillance Recruiting NCT02492607 Phase 3
13 A Safety and Efficacy Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 to the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-301] Active, not recruiting NCT00999609 Phase 3
14 Safety and Efficacy of Zuretinol Acetate Oral Solution in Subjects With Inherited Retinal Disease Caused by Mutations in Retinal Pigment Epithelium Protein 65 or Lecithin:Retinol Acyltransferase Not yet recruiting NCT04311112 Phase 2, Phase 3 Placebos;ZA Low dose;ZA high dose
15 Phase III Clinical Study of UF-021 for Retinitis Pigmentosa - Evaluation for a Comparative Double Masked Placebo Controlled Study Period and a Continuous Administration Period Terminated NCT01786395 Phase 3 UF-021;Placebo
16 Argus® II Retinal Stimulation System Feasibility Protocol Unknown status NCT00407602 Phase 2
17 An Open Labeled Clinical Study to Evaluate the Safety and Efficacy OF Autologous Bone Marrow Derived Mono Nuclear Stem Cell (BMMNCs) in Retinitis Pigmentosa. It is Self Funded (Patients' Own Funding) Clinical Trial Unknown status NCT01914913 Phase 1, Phase 2
18 Prospective Non-randomised Exploratory Study to Assess the Safety and Efficacy of Aflibercept (Eylea) in Cystoid Macular Oedema (CMO) Associated With Retinitis Pigmentosa (RP) Unknown status NCT02661711 Phase 2 Aflibercept
19 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
20 A 24 Week Phase Ib/II, Multicenter, Randomized, Controlled, Parallel Group, Dose Ranging Study With a 24 Week Follow-up to Evaluate Safety and Potential Efficacy of 2 Doses (60, 180 µg/ml) of rhNGF Solution vs Vehicle in Patients With RP. Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
21 Nerve Growth Factor Eye Drops as a Novel Treatment for Vision Loss in Patients With Retinitis Pigmentosa: From Preclinical to Clinical Phase II Trial Completed NCT02609165 Phase 2 rhNGF 180 µg/ml eye drops solution;vehicle eye drops
22 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
23 An Exploratory Study to Evaluate the Safety of Brimonidine Intravitreal Implant in Patients With Retinitis Pigmentosa Completed NCT00661479 Phase 1, Phase 2 400 µg Brimonidine Tartrate Implant;200 µg Brimonidine Tartrate Implant;100 µg Brimonidine Tartrate Implant
24 A Phase II Multiple Site, Randomized, Placebo-Controlled Trial of Oral Valproic Acid for Autosomal Dominant Retinitis Pigmentosa Completed NCT01233609 Phase 2 Valproic Acid;Placebo
25 A Prospective, Multicenter, Open-Label, Single-Arm Study of the Safety and Tolerability of a Single, Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Completed NCT02320812 Phase 1, Phase 2
26 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Acuity as the Primary Outcome Completed NCT00447993 Phase 2 NT-501;NT-501
27 A Phase II/III Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Visual Field Sensitivity as the Primary Outcome Completed NCT00447980 Phase 2 NT-501;NT-501
28 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
29 Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 Phase 2
30 Safety Issues of Peribulbar Injection of Umbilical Cord Mesenchymal Stem Cell (UC-MSC) in Patients With Retinitis Pigmentosa Completed NCT04315025 Phase 1, Phase 2
31 Investigation of Effectiveness and Safety of High Dose Docosahexaenoic Acid (DHA) in X-Linked Retinitis Pigmentosa Completed NCT00100230 Phase 2 docosahexaenoic acid OR corn/soy oil placebo
32 Effects of Lutein in Retinitis Pigmentosa Completed NCT00029289 Phase 1, Phase 2 Lutein (10 or 30 mg/day) capsules
33 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
34 An Open Label Dose Escalation Phase 1 Clinical Trial of Retinal Gene Therapy for Choroideraemia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) Completed NCT01461213 Phase 1, Phase 2 rAAV2.REP1
35 Efficacy and Safety of Intravitreal Ranibizumab (Lucentis®) Injection in the Treatment of Non-leaking Macular Cysts in Patients With Retinal Dystrophy. Completed NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
36 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
37 Phase 1/2, Safety and Efficacy Trial of BS01, a Recombinant Adeno-Associated Virus Vector Expressing ChronosFP in Patients With Retinitis Pigmentosa Recruiting NCT04278131 Phase 1, Phase 2 BS01
38 First-in-human Phase I/IIa, Open-Label, Prospective Study of the Safety and Tolerability of Subretinally Transplanted Human Retinal Progenitor Cells (hRPC) in Patients With Retinitis Pigmentosa (RP) Recruiting NCT02464436 Phase 1, Phase 2 hRPC
39 The Efficacy and Safety of Oral Minocycline in the Treatment of Retinitis Pigmentosa: An Open-label Clinical Trial Recruiting NCT04068207 Phase 2 Minocycline
40 An Open-label First-in-human Single Ascending Dose Study to Explore Safety, Tolerability and Efficacy of Subretinal Administration of CPK850 Gene Therapy in Patients With Retinitis Pigmentosa Due to Mutations in the Retinaldehyde Binding Protein 1 (RLBP1) Gene Recruiting NCT03374657 Phase 1, Phase 2
41 A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
42 STREAM: A Phase 1/2, Open-label, Safety, Tolerability and Preliminary Efficacy Study of Implantation Into One Eye of hESC-derived RPE in Patients With Retinitis Pigmentosa Due to Monogenic Mutation Recruiting NCT03963154 Phase 1, Phase 2
43 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
44 Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression Recruiting NCT03328130 Phase 1, Phase 2
45 An Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of AGTC-501 (rAAV2tYF-GRK1-RPGR) in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations Recruiting NCT03316560 Phase 1, Phase 2
46 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein) Recruiting NCT04120883 Phase 1, Phase 2 Hydroxychloroquine lower dose;Hydroxychloroquine higher dose
47 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
48 Sildenafil for Treatment of Choroidal Ischemia Recruiting NCT04356716 Phase 2 Sildenafil
49 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
50 Phase I/IIa, Open-Label, Dose-Escalation Study of Safety and Tolerability of Intravitreal RST-001 in Patients With Advanced Retinitis Pigmentosa (RP) Active, not recruiting NCT02556736 Phase 1, Phase 2 RST-001

Search NIH Clinical Center for Late-Onset Retinal Degeneration

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Genetic Tests for Late-Onset Retinal Degeneration

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Genetic tests related to Late-Onset Retinal Degeneration:

# Genetic test Affiliating Genes
1 Late-Onset Retinal Degeneration 29 C1QTNF5
Sources

Anatomical Context for Late-Onset Retinal Degeneration

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MalaCards organs/tissues related to Late-Onset Retinal Degeneration:

40
Eye, Bone, Retina, Testes, Brain, Bone Marrow, Kidney
Sources

Publications for Late-Onset Retinal Degeneration

About this section

Articles related to Late-Onset Retinal Degeneration:

(show top 50) (show all 1340)
# Title Authors PMID Year
1
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. 56 6 61
12944416 2003
2
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. 61 56
11097607 2000
3
Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. 56 61
8759344 1996
4
Applying Item Response Theory Modeling to Identify Social (Pragmatic) Communication Disorder. 61
32539641 2020
5
Lord Robert May (1936-2020). 61
32527820 2020
6
Recent changes in UK medical law: implications for radiologists. 61
32571520 2020
7
Effect of Different Methods of Thermal Treatment on Starch and Bioactive Compounds of Potato. 61
32189232 2020
8
Sir George Gabriel Stokes, Bart (1819-1903): his impact on science and scientists. 61
32507082 2020
9
Do Eligibility Criteria for Ductal Carcinoma In Situ (DCIS) Active Surveillance Trials Identify Patients at Low Risk for Upgrade to Invasive Carcinoma? 61
32418079 2020
10
Diary of a parliamentary intern. 61
32414992 2020
11
Successive marine heatwaves cause disproportionate coral bleaching during a fast phase transition from El Niño to La Niña. 61
32014776 2020
12
Plectranthias cruentus, a new species of anthiadine perchlet (Teleostei: Serranidae) from the Lord Howe Rise, Tasman Sea. 61
32230448 2020
13
Horizontal and vertical movements of humpback whales inform the use of critical pelagic habitats in the western South Pacific. 61
32184421 2020
14
The Adapted ADOS: A New Module Set for the Assessment of Minimally Verbal Adolescents and Adults. 61
31736004 2020
15
Lord Nelson's (1758-1805) left eye. 61
28972425 2020
16
Can child safeguarding training be improved?: findings of a multidisciplinary audit. 61
32062852 2020
17
The Pediatrician as Prophet. 61
32431447 2020
18
Sir Winston Churchill's doctors on the Riviera 1949-1965: Herbert Robert Burnett Gibson (1885-1967) and Dafydd (David) Myrddin Roberts (1906-1977). 61
29072523 2020
19
Regulatory justice following gross negligence manslaughter verdicts: Nurse/doctor differences. 61
30977427 2020
20
On the feasibility of the Rayleigh cycle for dynamic soaring trajectories. 61
32126133 2020
21
Managing mental incapacity in the 20th century: A history of the Court of Protection of England & Wales. 61
32033695 2020
22
The adult outcome of children referred for autism: typology and prediction from childhood. 61
31957035 2020
23
Linguistic Maze Production by Children and Adolescents With Attention-Deficit/Hyperactivity Disorder. 61
31944883 2020
24
Lord of the dance. 61
31948197 2020
25
Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. 61
31647904 2019
26
Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. 61
31286363 2019
27
Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1. 61
31385385 2019
28
Speciation in Howea Palms Occurred in Sympatry, Was Preceded by Ancestral Admixture, and Was Associated with Edaphic and Phenological Adaptation. 61
31318434 2019
29
Molecular chirality in classical spacetime: solving the controversy about the spinning cone model of rotating molecules. 61
31867762 2019
30
Making the switch from practice to policy. 61
31806852 2019
31
Diary of a parliamentary intern. 61
31757925 2019
32
New fellows join the Academy of Medical Sciences. 61
31732645 2019
33
In Close Combat: Vice-Admiral Lord Horatio Nelson's Injuries in the Napoleonic Wars. 61
31775975 2019
34
The Lord of the Lungs: The essential role of pulmonary surfactant upon inhalation of nanoparticles. 61
31560956 2019
35
Safeguarding Culture in the Catholic Church of England and Wales in the Twenty-First Century: An Examination of Progress. 61
30856086 2019
36
Estimating the magnitude of clinical benefit of local therapy in patients with DCIS. 61
31839157 2019
37
CD82 controls CpG-dependent TLR9 signaling. 61
31408613 2019
38
Genome-Wide Association Studies (GWAS) for Yield and Weevil Resistance in Sweet potato (Ipomoea batatas (L.) Lam). 61
31342081 2019
39
Phylogenetic divergence of island biotas: Molecular dates, extinction, and "relict" lineages. 61
31544990 2019
40
Commentary: Shall we stop looking for the lord of the ring? 61
30772038 2019
41
Lord Mountbatten's last supper to public health's last rites - The trajectory of medicine. 61
31742194 2019
42
Response to the Comments of J.S. Lord. 61
31431328 2019
43
Delivering allied health services to regional and remote participants on the autism spectrum via video-conferencing technology: lessons learned. 61
31474113 2019
44
Measuring Fatigue in TBI: Development of the TBI-QOL Fatigue Item Bank and Short Form. 61
31498228 2019
45
Ecological speciation in sympatric palms: 3. Genetic map reveals genomic islands underlying species divergence in Howea. 61
31298414 2019
46
Ecological speciation in sympatric palms: 4. Demographic analyses support speciation of Howea in the face of high gene flow. 61
31348522 2019
47
Interview with Verity Firth: commercial interests and public health policy. 61
31569201 2019
48
Beyond the Disease: "...Am I My Brother's Keeper?" 61
31488731 2019
49
Lord Mountbatten's The Last Supper: How the British empire botched up the future of India, Pakistan and Bangladesh. 61
31548929 2019
50
Learning from history: Lord Brain and Hashimoto's encephalopathy. 61
31243139 2019
Sources

Variations for Late-Onset Retinal Degeneration

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ClinVar genetic disease variations for Late-Onset Retinal Degeneration:

6 (show top 50) (show all 93) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLA2G5 NM_000929.3(PLA2G5):c.280dup (p.Val94fs)duplication Pathogenic 812376 1:20416375-20416376 1:20089882-20089883
2 C1QTNF5 NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)SNV Pathogenic/Likely pathogenic 2126 rs111033578 11:119210284-119210284 11:119339574-119339574
3 C1QTNF5 NM_001278431.2(C1QTNF5):c.562C>G (p.Pro188Ala)SNV Likely pathogenic 813996 11:119210211-119210211 11:119339501-119339501
4 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg)SNV Conflicting interpretations of pathogenicity 167294 rs145319149 11:119214636-119214636 11:119343926-119343926
5 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1190C>TSNV Conflicting interpretations of pathogenicity 194544 rs540768941 11:119210479-119210479 11:119339769-119339769
6 C1QTNF5 , MFRP NM_031433.4(MFRP):c.160C>G (p.Arg54Gly)SNV Conflicting interpretations of pathogenicity 196562 rs139436396 11:119216867-119216867 11:119346157-119346157
7 C1QTNF5 , MFRP NM_031433.4(MFRP):c.642-2A>GSNV Conflicting interpretations of pathogenicity 497208 rs376898612 11:119215716-119215716 11:119345006-119345006
8 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1124+1G>TSNV Conflicting interpretations of pathogenicity 631652 rs145719998 11:119214525-119214525 11:119343815-119343815
9 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*483T>CSNV Conflicting interpretations of pathogenicity 302941 rs147285871 11:119211775-119211775 11:119341065-119341065
10 C1QTNF5 , MFRP NM_031433.4(MFRP):c.773-8A>CSNV Conflicting interpretations of pathogenicity 302966 rs143891457 11:119215475-119215475 11:119344765-119344765
11 C1QTNF5 NM_031433.4(MFRP):c.496C>G (p.Pro166Ala)SNV Conflicting interpretations of pathogenicity 302970 rs145285193 11:119216275-119216275 11:119345565-119345565
12 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1237G>ASNV Conflicting interpretations of pathogenicity 302928 rs148291350 11:119210432-119210432 11:119339722-119339722
13 C1QTNF5 , MFRP NM_031433.4(MFRP):c.807G>A (p.Gln269=)SNV Conflicting interpretations of pathogenicity 302964 rs371537663 11:119215433-119215433 11:119344723-119344723
14 C1QTNF5 , MFRP NM_031433.4(MFRP):c.192C>G (p.Arg64=)SNV Conflicting interpretations of pathogenicity 302977 rs200143181 11:119216835-119216835 11:119346125-119346125
15 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1110+9G>ASNV Conflicting interpretations of pathogenicity 302930 rs771777653 11:119210885-119210885 11:119340175-119340175
16 C1QTNF5 , MFRP NM_031433.4(MFRP):c.-49G>ASNV Conflicting interpretations of pathogenicity 302984 rs201954533 11:119217272-119217272 11:119346562-119346562
17 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*126G>CSNV Uncertain significance 302946 rs886047827 11:119212132-119212132 11:119341422-119341422
18 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1475T>A (p.Ile492Asn)SNV Uncertain significance 302952 rs886047830 11:119212607-119212607 11:119341897-119341897
19 C1QTNF5 , MFRP NM_031433.4(MFRP):c.975+10G>ASNV Uncertain significance 302957 rs886047832 11:119215015-119215015 11:119344305-119344305
20 C1QTNF5 , MFRP NM_031433.4(MFRP):c.583G>A (p.Ala195Thr)SNV Uncertain significance 302968 rs886047833 11:119216188-119216188 11:119345478-119345478
21 C1QTNF5 , MFRP NM_031433.4(MFRP):c.505C>T (p.His169Tyr)SNV Uncertain significance 302969 rs886047834 11:119216266-119216266 11:119345556-119345556
22 C1QTNF5 , MFRP NM_031433.4(MFRP):c.190C>T (p.Arg64Cys)SNV Uncertain significance 302979 rs147490836 11:119216837-119216837 11:119346127-119346127
23 C1QTNF5 , MFRP NM_031433.4(MFRP):c.63C>A (p.Phe21Leu)SNV Uncertain significance 302980 rs868687394 11:119217076-119217076 11:119346366-119346366
24 C1QTNF5 , MFRP NM_031433.4(MFRP):c.58G>A (p.Glu20Lys)SNV Uncertain significance 302981 rs529716845 11:119217081-119217081 11:119346371-119346371
25 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*895C>TSNV Uncertain significance 302933 rs751853220 11:119211109-119211109 11:119340399-119340399
26 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*652G>ASNV Uncertain significance 302940 rs886047824 11:119211606-119211606 11:119340896-119340896
27 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1879C>TSNV Uncertain significance 302920 rs886047816 11:119209790-119209790 11:119339080-119339080
28 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1311G>ASNV Uncertain significance 302926 rs368962202 11:119210358-119210358 11:119339648-119339648
29 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1140C>ASNV Uncertain significance 302929 rs886047818 11:119210529-119210529 11:119339819-119339819
30 C1QTNF5 , MFRP NM_031433.4(MFRP):c.786T>A (p.His262Gln)SNV Uncertain significance 302965 rs751729583 11:119215454-119215454 11:119344744-119344744
31 C1QTNF5 , MFRP NM_031433.4(MFRP):c.456G>C (p.Arg152Ser)SNV Uncertain significance 302971 rs756071297 11:119216315-119216315 11:119345605-119345605
32 C1QTNF5 , MFRP NM_031433.4(MFRP):c.271+10C>TSNV Uncertain significance 302975 rs554865241 11:119216746-119216746 11:119346036-119346036
33 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1024G>ASNV Uncertain significance 302931 rs886047819 11:119210980-119210980 11:119340270-119340270
34 C1QTNF5 , MFRP NM_031433.4(MFRP):c.854-13G>ASNV Uncertain significance 302935 rs886047821 11:119211163-119211163 11:119340453-119340453
35 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*829G>ASNV Uncertain significance 302937 rs886047822 11:119211429-119211429 11:119340719-119340719
36 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*732G>TSNV Uncertain significance 302938 rs886047823 11:119211526-119211526 11:119340816-119340816
37 C1QTNF5 , MFRP NM_031433.4(MFRP):c.976-14A>CSNV Uncertain significance 302956 rs200069261 11:119214688-119214688 11:119343978-119343978
38 C1QTNF5 , MFRP NM_031433.4(MFRP):c.303C>T (p.Ser101=)SNV Uncertain significance 302974 rs530322096 11:119216607-119216607 11:119345897-119345897
39 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1290G>ASNV Uncertain significance 302927 rs751401877 11:119210379-119210379 11:119339669-119339669
40 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*316C>GSNV Uncertain significance 302942 rs556985308 11:119211942-119211942 11:119341232-119341232
41 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*198G>CSNV Uncertain significance 302944 rs886047825 11:119212060-119212060 11:119341350-119341350
42 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1516-4G>ASNV Uncertain significance 302950 rs372014001 11:119212486-119212486 11:119341776-119341776
43 C1QTNF5 , MFRP NM_031433.4(MFRP):c.1506C>T (p.Ser502=)SNV Uncertain significance 302951 rs773497972 11:119212576-119212576 11:119341866-119341866
44 C1QTNF5 , MFRP NM_031433.4(MFRP):c.941C>A (p.Thr314Asn)SNV Uncertain significance 302960 rs755974208 11:119215059-119215059 11:119344349-119344349
45 C1QTNF5 , MFRP NM_031433.4(MFRP):c.897G>A (p.Ser299=)SNV Uncertain significance 302962 rs150284394 11:119215343-119215343 11:119344633-119344633
46 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*951C>GSNV Uncertain significance 302932 rs886047820 11:119211053-119211053 11:119340343-119340343
47 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*865A>TSNV Uncertain significance 302934 rs752870533 11:119211139-119211139 11:119340429-119340429
48 C1QTNF5 NM_001278431.2(C1QTNF5):c.561G>T (p.Lys187Asn)SNV Uncertain significance 813997 11:119210212-119210212 11:119339502-119339502
49 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1289C>ASNV Uncertain significance 852164 11:119210380-119210380 11:119339670-119339670
50 C1QTNF5 , MFRP NM_031433.4(MFRP):c.*1864C>TSNV Uncertain significance 879281 11:119209805-119209805 11:119339095-119339095

UniProtKB/Swiss-Prot genetic disease variations for Late-Onset Retinal Degeneration:

73
# Symbol AA change Variation ID SNP ID
1 C1QTNF5 p.Ser163Arg VAR_032629 rs111033578

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Expression for Late-Onset Retinal Degeneration

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Search GEO for disease gene expression data for Late-Onset Retinal Degeneration.
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Pathways for Late-Onset Retinal Degeneration

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Pathways related to Late-Onset Retinal Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism 65
Show member pathways
 11.52 TDO2 PRODH DLD
2
Amino Acid metabolism 1
11.29 TDO2 SDS DLD
3
Glycine, serine and threonine metabolism 36
Show member pathways
 10.52 SDS DLD DAO
4
threonine degradation 1
Show member pathways
 9.96 SDS DLD
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GO Terms for Late-Onset Retinal Degeneration

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Cellular components related to Late-Onset Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.73 WHRN RHO PRCD EYS DLD C1QTNF5
2 photoreceptor outer segment membrane GO:0042622 9.16 RHO PRCD
3 photoreceptor outer segment GO:0001750 9.13 RHO PRCD EYS
4 photoreceptor inner segment GO:0001917 8.8 WHRN RHO CRB1

Biological processes related to Late-Onset Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.83 TYR TDO2 PRODH DLD DAO
2 detection of light stimulus involved in visual perception GO:0050908 9.4 EYS CRB1
3 eye photoreceptor cell development GO:0042462 9.37 MFRP CRB1
4 retina development in camera-type eye GO:0060041 9.33 RHO MFRP CRB1
5 cellular response to light stimulus GO:0071482 9.32 RHO CRB1
6 sensory perception of light stimulus GO:0050953 9.26 WHRN RHO
7 visual perception GO:0007601 9.1 TYR RHO PRCD MFRP EYS CRB1
8 proline catabolic process GO:0006562 8.96 PRODH DAO

Molecular functions related to Late-Onset Retinal Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.35 TYR TDO2 PRODH DLD DAO
2 identical protein binding GO:0042802 9.17 WHRN TYR TDO2 NPL DAO C1QTNF5
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Sources for Late-Onset Retinal Degeneration

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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