LORD
MCID: LTN004
MIFTS: 49

Late-Onset Retinal Degeneration (LORD)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Late-Onset Retinal Degeneration

MalaCards integrated aliases for Late-Onset Retinal Degeneration:

Name: Late-Onset Retinal Degeneration 57 12 53 59 74 37 29 6 15 72
Lord 57 12 53 59 74
Retinal Degeneration, Late-Onset, Autosomal Dominant 57 53 13
Autosomal Dominant Late-Onset Retinal Degeneration 12 53 59
Retinal Degeneration, Late-Onset 40
Pigmentary Retinopathy 53
Retinitis Pigmentosa 72

Characteristics:

Orphanet epidemiological data:

59
late-onset retinal degeneration
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
late-onset retinal degeneration:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060869
OMIM 57 605670
KEGG 37 H01130
UMLS via Orphanet 73 C1854065
Orphanet 59 ORPHA67042
MedGen 42 C1854065
UMLS 72 C0035334 C1854065

Summaries for Late-Onset Retinal Degeneration

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 67042DefinitionLate-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 hardikar syndrome and kearns-sayre syndrome. An important gene associated with Late-Onset Retinal Degeneration is C1QTNF5 (C1q And TNF Related 5). The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes, 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 : 57 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 : 37
Late-onset retinal degeneration (L-ORD) 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. L-ORD 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 : 74 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.

Related Diseases for Late-Onset Retinal Degeneration

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 283)
# Related Disease Score Top Affiliating Genes
1 hardikar syndrome 12.2
2 kearns-sayre syndrome 11.8
3 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 11.7
4 retinopathy, pericentral pigmentary, dominant 11.7
5 retinopathy, pericentral pigmentary, autosomal recessive 11.7
6 cockayne syndrome a 11.7
7 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 11.5
8 myopathy, mitochondrial, and ataxia 11.5
9 cockayne syndrome 11.5
10 mitochondrial trifunctional protein deficiency 11.4
11 bardet-biedl syndrome 12 11.4
12 spinocerebellar ataxia 7 11.4
13 retinopathy, pigmentary, and mental retardation 11.4
14 bardet-biedl syndrome 1 11.3
15 neurodegeneration with brain iron accumulation 1 11.3
16 cockayne syndrome b 11.2
17 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.2
18 retinitis pigmentosa 1 11.2
19 retinitis pigmentosa 9 11.2
20 retinitis pigmentosa 10 11.2
21 cystinosis, late-onset juvenile or adolescent nephropathic type 11.2
22 ramon syndrome 11.2
23 xeroderma pigmentosum, complementation group d 11.2
24 xeroderma pigmentosum, complementation group f 11.2
25 xeroderma pigmentosum, complementation group g 11.2
26 retinitis pigmentosa 3 11.2
27 retinitis pigmentosa 23 11.2
28 retinitis pigmentosa 2 11.2
29 diabetes and deafness, maternally inherited 11.2
30 retinitis pigmentosa 13 11.2
31 retinitis pigmentosa 12 11.2
32 retinitis pigmentosa 14 11.2
33 retinitis pigmentosa 11 11.2
34 bardet-biedl syndrome 3 11.2
35 retinitis pigmentosa 17 11.2
36 retinitis pigmentosa 18 11.2
37 retinitis pigmentosa 19 11.2
38 usher syndrome, type if 11.2
39 retinitis pigmentosa 25 11.2
40 leber congenital amaurosis 4 11.2
41 bardet-biedl syndrome 6 11.2
42 retinitis pigmentosa 28 11.2
43 retinitis pigmentosa 30 11.2
44 retinitis pigmentosa 7 11.2
45 retinitis pigmentosa 26 11.2
46 retinitis pigmentosa 31 11.2
47 retinitis pigmentosa 35 11.2
48 retinitis pigmentosa 33 11.2
49 retinitis pigmentosa 36 11.2
50 xeroderma pigmentosum, complementation group b 11.2

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



Diseases related to Late-Onset Retinal Degeneration

Symptoms & Phenotypes for Late-Onset Retinal Degeneration

Human phenotypes related to Late-Onset Retinal Degeneration:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 blindness 32 HP:0000618
2 retinopathy 32 HP:0000488
3 visual loss 32 HP:0000572
4 rod-cone dystrophy 32 HP:0000510
5 retinal degeneration 32 HP:0000546
6 scotoma 32 HP:0000575
7 adult-onset night blindness 32 HP:0007830
8 sub-rpe deposits 32 HP:0031531

Symptoms via clinical synopsis from OMIM:

57
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

Drugs & Therapeutics for Late-Onset Retinal Degeneration

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

(show top 50) (show all 156)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
3 Sildenafil Citrate Phase 4 171599-83-0
4 Citrate Phase 4
5 Antibodies Phase 4
6 Immunoglobulins Phase 4
7 Autoantibodies Phase 4
8 Phosphodiesterase Inhibitors Phase 4
9 Phosphodiesterase 5 Inhibitors Phase 4
10 Vasodilator Agents Phase 4
11 Vardenafil Dihydrochloride Phase 4
12 Hormones Phase 4
13 Hormone Antagonists Phase 4
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
15 Adrenocorticotropic Hormone Phase 4
16 beta-endorphin Phase 4
17 Melanocyte-Stimulating Hormones Phase 4
18
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
19
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
20
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 6433159
21
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
23 Tocotrienol Investigational Phase 3 6829-55-6
24 retinol Phase 3
25 Retinol palmitate Phase 3
26 Calciferol Phase 3
27 Bone Density Conservation Agents Phase 3
28 Tocotrienols Phase 3
29 Tocopherols Phase 3
30 Antihypertensive Agents Phase 3
31 Isopropyl unoprostone Phase 3
32
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
33
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
34
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
35
Ciprofloxacin Approved, Investigational Phase 2 85721-33-1 2764
36
Povidone Approved Phase 2 9003-39-8
37
Iodine Approved, Investigational Phase 2 7553-56-2 807
38
Povidone-iodine Approved Phase 2 25655-41-8
39
Minocycline Approved, Investigational Phase 1, Phase 2 10118-90-8 5281021
40
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
41
Levodopa Approved Phase 2 59-92-7 6047
42
Carbidopa Approved Phase 2 28860-95-9 34359
43
Adapalene Approved Phase 1, Phase 2 106685-40-9 60164
44
Ranibizumab Approved Phase 2 347396-82-1 459903
45
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
46
Brinzolamide Approved Phase 2 138890-62-7 68844
47
Beta carotene Approved, Nutraceutical Phase 1, Phase 2 7235-40-7
48 Antiemetics Phase 2
49 HIV Protease Inhibitors Phase 2
50 glucocorticoids Phase 2

Interventional clinical trials:

(show top 50) (show all 183)
# 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 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
10 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
11 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
12 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
13 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
14 Argus® II Retinal Stimulation System Feasibility Protocol Unknown status NCT00407602 Phase 2
15 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
16 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
17 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
18 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
19 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
20 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
21 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
22 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
23 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
24 Safety Study in Retinal Transplantation for Retinitis Pigmentosa. Completed NCT00345917 Phase 2
25 Phase 2 Study Of Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa Completed NCT01560715 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 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
29 Pilot Study to Evaluate Oral Minocycline in the Treatment of Cystoid Macular Edema Associated With Retinitis Pigmentosa Completed NCT02140164 Phase 1, Phase 2 Minocycline
30 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
31 The Effect of L-Dopa on the Progression of Retinitis Pigmentosa Recruiting NCT02837640 Phase 2 levodopa-carbidopa
32 Phase I/IIa, Open-Label, Dose-Escalation Study of Safety and Tolerability of Intravitreal RST-001 in Patients With Advanced Retinitis Pigmentosa (RP) Recruiting NCT02556736 Phase 1, Phase 2 RST-001
33 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2-.RPGR) for Gene Therapy of Adults and Children With X-linked Retinitis Pigmentosa Owing to Defects in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03252847 Phase 1, Phase 2
34 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
35 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
36 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
37 A Phase I/IIa Dose Escalation Safety Study of Subretinally Injected SAR421869, Administered to Patients With Retinitis Pigmentosa Associated With Usher Syndrome Type 1B Recruiting NCT01505062 Phase 1, Phase 2
38 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
39 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
40 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
41 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
42 Photoreceptor Structure in A Phase 2 Study of Encapsulated Human NTC-201 Cell Implants Releasing Ciliary Neurotrophic Factor (CNTF) for Participants With Retinitis Pigmentosa Using Rates of Change in Cone Spacing and Density Active, not recruiting NCT01530659 Phase 2 NT-501
43 Autologous Bone Marrow-Derived CD34+, CD133+, and CD271+ Stem Cell Transplantation for Retinitis Pigmentosa Active, not recruiting NCT02709876 Phase 1, Phase 2
44 A Prospective, Multicenter, Randomized, Study of the Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa (RP) Active, not recruiting NCT03073733 Phase 2
45 Efficacy and Safety of Intravitreal Ranibizumab (Lucentis®) Injection in the Treatment of Non-leaking Macular Cysts in Patients With Retinal Dystrophy. Active, not recruiting NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
46 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 Not yet recruiting NCT03963154 Phase 1, Phase 2
47 The Effect of Oral Administration of 9-cis β Carotene Rich Powder of the Alga Dunaliella Bardawil on Visual Functions in Adolescent Patients With Retinitis Pigmentosa Not yet recruiting NCT02018692 Phase 1, Phase 2
48 An Open-Label, Phase 1b, Safety/Proof-of-Concept Study to Evaluate the Effects of Oral QLT091001 in Retinitis Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65) Completed NCT01543906 Phase 1 QLT091001
49 Phase 1b Study to Evaluate QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) Completed NCT01014052 Phase 1 QLT091001
50 Phase I Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa Completed NCT02280135 Phase 1

Search NIH Clinical Center for Late-Onset Retinal Degeneration

Genetic Tests for Late-Onset Retinal Degeneration

Genetic tests related to Late-Onset Retinal Degeneration:

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

Anatomical Context for Late-Onset Retinal Degeneration

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

41
Bone, Eye, Testes, Retina, Brain, Bone Marrow, Kidney

Publications for Late-Onset Retinal Degeneration

Articles related to Late-Onset Retinal Degeneration:

(show top 50) (show all 1304)
# 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. 38 8 71
12944416 2003
2
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. 38 8
11097607 2000
3
Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. 38 8
8759344 1996
4
Learning from history: Lord Brain and Hashimoto's encephalopathy. 38
31243139 2019
5
Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1. 38
31385385 2019
6
Response to the Comments of J.S. Lord. 38
31431328 2019
7
CD82 controls CpG-dependent TLR9 signaling. 38
31408613 2019
8
Ecological speciation in sympatric palms: 4. Demographic analyses support speciation of Howea in the face of high gene flow. 38
31348522 2019
9
Speciation in Howea palms occurred in sympatry, was preceded by ancestral admixture, and was associated with edaphic and phenological adaptation. 38
31318434 2019
10
Ecological speciation in sympatric palms: 3. Genetic map reveals genomic islands underlying species divergence in Howea. 38
31298414 2019
11
Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. 38
31286363 2019
12
Genome-Wide Association Studies (GWAS) for Yield and Weevil Resistance in Sweet potato (Ipomoea batatas (L.) Lam). 38
31342081 2019
13
Multimodal imaging of late-onset retinal degeneration complicated by bilateral choroidal neovascularization. 38
30692649 2019
14
The Spatial Resolution of Bat Biosonar Quantified with a Visual-Resolution Paradigm. 38
31104937 2019
15
Mercury concentrations in marine species from the Aleutian Islands: Spatial and biological determinants. 38
30763856 2019
16
Detection of ultrafine plastics ingested by seabirds using tissue digestion. 38
31232326 2019
17
A case of an unusual presentation of obsessive compulsive disorder in an adolescent. 38
31078093 2019
18
Measuring child social communication across contexts: Similarities and differences across play and snack routines. 38
30663859 2019
19
The future and the vet profession. 38
30948669 2019
20
Ancestral range reconstruction of remote oceanic island species of Plantago (Plantaginaceae) reveals differing scales and modes of dispersal. 38
31217659 2019
21
Cellular Uptake Mediated by Cyclic Oligochalcogenides. 38
30975261 2019
22
Regulatory justice following gross negligence manslaughter verdicts: Nurse/doctor differences. 38
30977427 2019
23
Low-frequency dielectric response of a periodic array of charged spheres in an electrolyte solution: The simple cubic lattice. 38
30999468 2019
24
Safeguarding Culture in the Catholic Church of England and Wales in the Twenty-First Century: An Examination of Progress. 38
30856086 2019
25
Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients. 38
30895942 2019
26
Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy. 38
30846767 2019
27
Splinters: Cross-Dressing Ex-Servicemen on the Interwar Stage. 38
30380103 2019
28
An Interim Report of the Scleroderma Clinical Trials Consortium Working Groups. 38
30906878 2019
29
Four recent ciguatera fish poisoning incidents in New South Wales, Australia linked to imported fish 38
30712338 2019
30
Berkeley Moynihan - early transfusionist and blood transfusion recipient. 38
30727026 2019
31
If the Lord is willing and the creek don't rise: Religious attendance and disaster recovery in the Deep South. 38
31130754 2019
32
Commentary: Shall we stop looking for the lord of the ring? 38
30772038 2019
33
Evaluating Different Equating Setups in the Continuous Item Pool Calibration for Computerized Adaptive Testing. 38
31244717 2019
34
Real-World Health Plan Data Analysis: Key Trends in Medication Adherence and Overall Costs in Patients with HIV. 38
30589631 2019
35
Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa. 38
30085091 2018
36
Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function. 38
30478029 2018
37
Sieve-type pore canals in the Timiriaseviinae-A contribution to the comparative morphology and the systematics of the Limnocytheridae (Ostracoda, Crustacea). 38
30313727 2018
38
First Australian records of Ethusina (Crustacea: Decapoda: Ethusidae) and additional records from New Zealand. 38
30313758 2018
39
Feasibility of the Less Is More Approach in Treating Low-Risk Ductal Carcinoma In Situ Diagnosed on Core Needle Biopsy: Ten-Year Review of Ductal Carcinoma In Situ Upgraded to Invasion at Surgery. 38
29582675 2018
40
Pathological and Microbiological Study of Mortality in a Captive Breeding Colony of the Endangered Lord Howe Island Stick Insect ( Dryococelus australis). 38
29661123 2018
41
Reflection: A Supervisor's Journey through Middle Earth. 38
30231823 2018
42
Cone Photoreceptor Cell Segmentation and Diameter Measurement on Adaptive Optics Images Using Circularly Constrained Active Contour Model. 38
30372733 2018
43
Lord of The Crowns: A New Precious in the Kingdom of Clustomesogens. 38
29989341 2018
44
Study of a seventeenth-century French artificial mummy: autopsical, native, and contrast-injected CT investigations. 38
29594348 2018
45
Temporal records of diet diversity dynamics in individual adult female Steller sea lion (Eumetopias jubatus) vibrissae. 38
29948317 2018
46
Usherin defects lead to early-onset retinal dysfunction in zebrafish. 38
29777677 2018
47
Ingestion of marine debris by Wedge-tailed Shearwaters (Ardenna pacifica) on Lord Howe Island, Australia during 2005-2018. 38
30041356 2018
48
An alternative water transport system in land plants. 38
30068676 2018
49
Coping with Illness: Insight from the Bhagavad Gita. 38
30148107 2018
50
Narcissistic leaders: An asset or a liability? Leader visibility, follower responses, and group-level absenteeism. 38
29553765 2018

Variations for Late-Onset Retinal Degeneration

ClinVar genetic disease variations for Late-Onset Retinal Degeneration:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 C1QTNF5 NM_015645.5(C1QTNF5): c.489C> G (p.Ser163Arg) single nucleotide variant Likely pathogenic rs111033578 11:119210284-119210284 11:119339574-119339574
2 C1QTNF5 ; MFRP NM_015645.5(C1QTNF5): c.-1995-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs376898612 11:119215716-119215716 11:119345006-119345006
3 C1QTNF5 ; MFRP NM_015645.5(C1QTNF5): c.-1513+1G> T single nucleotide variant Uncertain significance 11:119214525-119214525 11:119343815-119343815

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

74
# Symbol AA change Variation ID SNP ID
1 C1QTNF5 p.Ser163Arg VAR_032629 rs111033578

Expression for Late-Onset Retinal Degeneration

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

Pathways for Late-Onset Retinal Degeneration

GO Terms for Late-Onset Retinal Degeneration

Sources for Late-Onset Retinal Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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