LORD
MCID: LTN004
MIFTS: 47

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 58 12 54 60 76 38 30 6 15 74
Lord 58 12 54 60 76
Retinal Degeneration, Late-Onset, Autosomal Dominant 58 54 13
Autosomal Dominant Late-Onset Retinal Degeneration 12 54 60
Pigmentary Retinopathy 54 6
Retinal Degeneration, Late-Onset 41
Retinitis Pigmentosa 74

Characteristics:

Orphanet epidemiological data:

60
late-onset retinal degeneration
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
late-onset retinal degeneration:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0060869
OMIM 58 605670
KEGG 38 H01130
UMLS via Orphanet 75 C1854065
Orphanet 60 ORPHA67042
MedGen 43 C1854065

Summaries for Late-Onset Retinal Degeneration

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 67042Disease definitionLate-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), and among its related pathways/superpathways is Amino sugar and nucleotide sugar metabolism. The drugs Antioxidants and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and kidney, 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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 172)
# Related Disease Score Top Affiliating Genes
1 hardikar syndrome 12.0
2 kearns-sayre syndrome 11.6
3 bardet-biedl syndrome 12 11.6
4 retinopathy, pericentral pigmentary, autosomal recessive 11.6
5 bardet-biedl syndrome 2 11.4
6 bardet-biedl syndrome 10 11.4
7 bardet-biedl syndrome 11 11.4
8 myopathy, mitochondrial, and ataxia 11.4
9 spinocerebellar ataxia 7 11.2
10 retinopathy, pericentral pigmentary, dominant 11.2
11 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 11.2
12 retinopathy, pigmentary, and mental retardation 11.2
13 cockayne syndrome a 11.2
14 neurodegeneration with brain iron accumulation 1 11.2
15 mitochondrial trifunctional protein deficiency 11.2
16 cockayne syndrome b 11.0
17 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.0
18 retinitis pigmentosa 1 11.0
19 retinitis pigmentosa 9 11.0
20 retinitis pigmentosa 10 11.0
21 bardet-biedl syndrome 1 11.0
22 cystinosis, late-onset juvenile or adolescent nephropathic type 11.0
23 ramon syndrome 11.0
24 xeroderma pigmentosum, complementation group d 11.0
25 xeroderma pigmentosum, complementation group f 11.0
26 xeroderma pigmentosum, complementation group g 11.0
27 retinitis pigmentosa 3 11.0
28 retinitis pigmentosa 23 11.0
29 retinitis pigmentosa 2 11.0
30 diabetes and deafness, maternally inherited 11.0
31 retinitis pigmentosa 13 11.0
32 retinitis pigmentosa 12 11.0
33 retinitis pigmentosa 14 11.0
34 retinitis pigmentosa 11 11.0
35 bardet-biedl syndrome 3 11.0
36 retinitis pigmentosa 17 11.0
37 retinitis pigmentosa 18 11.0
38 retinitis pigmentosa 19 11.0
39 usher syndrome, type if 11.0
40 retinitis pigmentosa 25 11.0
41 bardet-biedl syndrome 6 11.0
42 retinitis pigmentosa 28 11.0
43 retinitis pigmentosa 30 11.0
44 retinitis pigmentosa 7 11.0
45 retinitis pigmentosa 26 11.0
46 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 11.0
47 retinitis pigmentosa 31 11.0
48 retinitis pigmentosa 35 11.0
49 retinitis pigmentosa 33 11.0
50 retinitis pigmentosa 36 11.0

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 blindness 33 HP:0000618
2 retinopathy 33 HP:0000488
3 visual loss 33 HP:0000572
4 rod-cone dystrophy 33 HP:0000510
5 retinal degeneration 33 HP:0000546
6 scotoma 33 HP:0000575
7 adult-onset night blindness 33 HP:0007830
8 sub-rpe deposits 33 HP:0031531

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.66 EXOSC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.66 C1QTNF5 MFRP
3 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.66 EXOSC2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.66 C1QTNF5 MFRP EXOSC2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.66 C1QTNF5 MFRP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.66 C1QTNF5 MFRP
7 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.66 EXOSC2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.66 EXOSC2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.66 EXOSC2

Drugs & Therapeutics for Late-Onset Retinal Degeneration

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antioxidants Phase 2
2 Anesthetics Phase 2
3 Protective Agents Phase 2
4 Pharmaceutical Solutions Phase 1, Phase 2
5 Mitogens Phase 1, Phase 2
6 Ophthalmic Solutions Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
2 A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP) Completed NCT02110225 Phase 1, Phase 2 rhNGF 60 µg/ml eye drops solution;rhNGF 180 µg/ml eye drops solution;Placebo
3 Self-confidence Study in Patients With Argus II Artificial Retina Recruiting NCT03510234
4 Cell Collection to Study Eye Diseases Recruiting NCT01432847

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 30 C1QTNF5

Anatomical Context for Late-Onset Retinal Degeneration

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

42
Eye, Brain, Kidney, Retina, Testes, Breast, Bone

Publications for Late-Onset Retinal Degeneration

Articles related to Late-Onset Retinal Degeneration:

(show top 50) (show all 654)
# Title Authors Year
1
Multimodal imaging of late-onset retinal degeneration complicated by bilateral choroidal neovascularization. ( 30692649 )
2019
2
Commentary: Shall we stop looking for the lord of the ring? ( 30772038 )
2019
3
Late-Onset Retinal Degeneration. ( 30578496 )
2018
4
Ten tips for becoming a Time Lord ( 29621857 )
2018
5
Pathological and Microbiological Study of Mortality in a Captive Breeding Colony of the Endangered Lord Howe Island Stick Insect ( Dryococelus australis). ( 29661123 )
2018
6
The Lord Buddha destigmatizes mental illness. ( 29736077 )
2018
7
'Tax pharma companies if they fail to act on AMR', says Review chief Lord O'Neill. ( 29954991 )
2018
8
Lord of The Crowns: A New Precious in the Kingdom of Clustomesogens. ( 29989341 )
2018
9
Ingestion of marine debris by Wedge-tailed Shearwaters (Ardenna pacifica) on Lord Howe Island, Australia during 2005-2018. ( 30041356 )
2018
10
A new genus and new species of Meropathina from Lord Howe Island (Coleoptera: Hydraenidae). ( 30313914 )
2018
11
The Lord of the Bacteria: The fellowship of the leader and other serine protease inhibitors. ( 30569850 )
2018
12
Lord Adrian, MD, PRS, OM. ( 29241189 )
2018
13
Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration. ( 28939808 )
2017
14
Cataract surgery in patients with late-onset retinal degeneration. ( 28917403 )
2017
15
Hashimoto's encephalopathy and anti-MOG antibody encephalitis: 50 years after Lord Brain's description. ( 28694134 )
2017
16
The lord of the broken rings: African porocephaliasis, an emerging radiological diagnosis in developed countries. ( 27680970 )
2017
17
Lord of the incomplete rings. ( 28126804 )
2017
18
Development and Dark Wizards: Teaching Psychopathology with Lord Voldemort. ( 28233261 )
2017
19
Lord of the rings. ( 28428378 )
2017
20
Alternative splicing: The lord of the rings. ( 28470187 )
2017
21
One Health pioneer Lord Soulsby dies. ( 28500148 )
2017
22
Proteomic analysis of Lupinus angustifolius (var. Zeus and Bojar) and Lupinus luteus (var. Lord and Parys) seed proteins and their hydrolysates. ( 28516510 )
2017
23
Lord Soulsby of Swaffham Prior. ( 28522634 )
2017
24
Siva - The Mad Lord: A Puranic perspective. ( 28529371 )
2017
25
Cyphastrea salae, a new species of hard coral from Lord Howe Island, Australia (Scleractinia, Merulinidae). ( 28769608 )
2017
26
Celebrating the sesquicentennial of Lord Joseph Lister. ( 28920662 )
2017
27
Keeping of brachycephalic breeds 'not cool', says Lord as debate continues on dog welfare. ( 28939781 )
2017
28
The lord of the rings. ( 28942977 )
2017
29
Museum Genomics Confirms that the Lord Howe Island Stick Insect Survived Extinction. ( 28988864 )
2017
30
Lord Soulsby of Swaffham Prior, 23 June 1926-8 May 2017. ( 29091213 )
2017
31
The Alchemical Manuscripts of David Lindsay (1587-1641), Lord Lindsay of Balcarres. ( 29338655 )
2017
32
Simultaneous quantification of DNA damage and mitochondrial copy number by long-run DNA-damage quantification (LORD-Q). ( 29348835 )
2017
33
Lord Ernest Jackson Lawson Soulsby (1926–2017) – pro memoria ( 29420876 )
2017
34
LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION. ( 27388725 )
2016
35
Lord Lister's antiseptic steam spray. ( 24585627 )
2016
36
Stable fixation of a madreporic Lord femoral prosthesis at 31-year follow-up in a total hip arthroplasty: A case report. ( 26708946 )
2016
37
Which is the "lord" of the aortic rings? ( 26831925 )
2016
38
Lord Carter's model hospitals aim to save the NHS £5 billion a year. ( 26884007 )
2016
39
Review: The lord of the rings: Structure and mechanism of the sliding clamp loader. ( 26918303 )
2016
40
One legacy of Lord Briggs is the value placed on nurse research. ( 27008147 )
2016
41
The hardships of being a Sith Lord: implications of the biopsychosocial model in a space opera. ( 27105743 )
2016
42
Lord Willis: new nursing role is 'not a substitute'. ( 27141710 )
2016
43
Lord Walton of Detchant. ( 27142764 )
2016
44
Lord Walton of Detchant - obituary. ( 27272108 )
2016
45
Comment: "If you can't measure it, you can't improve it" (Lord Kelvin). ( 27581215 )
2016
46
Editorial Commentary: Helping Those Who Seek the Company of "Lord Stanley": Hockey Players and Hip Injuries Highlight the Current State and Future Challenges in Understanding, Treating, and Preventing Nonarthritic Hip Disease. ( 27594336 )
2016
47
Erratum for the article Lord 2016. ( 27622660 )
2016
48
John Walton, Lord Walton of Detchant: a man of influence and goodwill. ( 27803016 )
2016
49
Guild of Nurses at the Lord Mayor's Show. ( 27897749 )
2016
50
Doctors need dragging out of their comfort zone to avert the antimicrobial crisis, says lord. ( 27913378 )
2016

Variations for Late-Onset Retinal Degeneration

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

76
# Symbol AA change Variation ID SNP ID
1 C1QTNF5 p.Ser163Arg VAR_032629 rs111033578

ClinVar genetic disease variations for Late-Onset Retinal Degeneration:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C1QTNF5 NM_015645.4(C1QTNF5): c.489C> G (p.Ser163Arg) single nucleotide variant Likely pathogenic rs111033578 GRCh37 Chromosome 11, 119210284: 119210284
2 C1QTNF5 NM_015645.4(C1QTNF5): c.489C> G (p.Ser163Arg) single nucleotide variant Likely pathogenic rs111033578 GRCh38 Chromosome 11, 119339574: 119339574

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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