LORD
MCID: RTN087
MIFTS: 43

Retinal Degeneration, Late-Onset, Autosomal Dominant (LORD) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinal Degeneration, Late-Onset, Autosomal Dominant

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Aliases & Descriptions for Retinal Degeneration, Late-Onset, Autosomal Dominant:

Name: Retinal Degeneration, Late-Onset, Autosomal Dominant 52 48 12
Late-Onset Retinal Degeneration 52 48 24 54 70 27 68
Lord 11 48 54 70
Autosomal Dominant Late-Onset Retinal Degeneration 11 48 54
 
Late-Onset Retinal Degenration 11 13
Pigmentary Retinopathy 48 27
Retinitis Pigmentosa 68

Characteristics:

Orphanet epidemiological data:

54
late-onset retinal degeneration:
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: normal life expectancy

HPO:

64
retinal degeneration, late-onset, autosomal dominant:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 605670
Disease Ontology11 DOID:0060869
Orphanet54 ORPHA67042
MedGen37 C1854065

Summaries for Retinal Degeneration, Late-Onset, Autosomal Dominant

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Disease Ontology:11 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.

MalaCards based summary: Retinal Degeneration, Late-Onset, Autosomal Dominant, also known as late-onset retinal degeneration, is related to autosomal recessive pericentral pigmentary retinopathy and dominant pericentral pigmentary retinopathy, and has symptoms including rod-cone dystrophy, retinal degeneration and visual loss. An important gene associated with Retinal Degeneration, Late-Onset, Autosomal Dominant is C1QTNF5 (C1q And TNF Related 5), and among its related pathways are Vitamin A and Carotenoid Metabolism and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, and related mouse phenotypes are cardiovascular system and pigmentation.

UniProtKB/Swiss-Prot:70 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.

OMIM:52 Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth... (605670) more...

Related Diseases for Retinal Degeneration, Late-Onset, Autosomal Dominant

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Diseases in the Retinal Degeneration family:

retinal degeneration, late-onset, autosomal dominant

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

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive pericentral pigmentary retinopathy12.1
2dominant pericentral pigmentary retinopathy12.0
3retinitis10.4
4retinal degeneration10.4
5cadasil 210.2RP1, RPGR
6parachute tricuspid valve10.2PRPH2, ROM1
7inflammatory bowel disease 2010.2RDH12, RPGR
8autosomal dominant congenital stationary night blindness10.2PRPH2, RHO
9vitreoretinochoroidopathy10.1PRPH2, ROM1
10choriodal dystrophy, central areolar 210.1PRPH2, RHO, ROM1
11bartholin's duct cyst10.1CRB1, RHO
12isolated plagiocephaly10.1RHO, TULP1
13glucocorticoid deficiency 310.1PRPH2, RHO, RP1
14blessig's cysts10.1PRPH2, ROM1, RPGR
1546xy sex reversal 310.1RHO, RPGR
16retinitis pigmentosa 1910.0CRX, RHO, ROM1
17melanoma, cutaneous malignant 1010.0CRX, RHO
18branchial cleft anomalies branchial cysts, included10.0RDH12, RHO, ROM1, RP1
19craniofacial dyssynostosis10.0IFT140, RP1, TULP1
20cortisone reductase deficiency 110.0RDH12, RHO, ROM1, RP1
21retinitis pigmentosa 3410.0RHO, RPE65
22alcohol-related neurodevelopmental disorder10.0PRPH2, ROM1
23rpl5-related diamond-blackfan anemia9.9CRX, RPE65
24lumbosacral plexus lesion9.9RHO, RPE65
25hypertrichosis terminalis, generalized, with or without gingival hyperplasia9.9CRB1, CRX, PRPH2
26deafness, autosomal dominant 489.9PRPH2, RHO, RPE65
27charcot-marie-tooth disease intermediate type9.8RHO, RPE65, RPGR
28retinitis pigmentosa9.8
29choroiditis9.8
30ichthyosis, congenital, autosomal recessive 39.7CRX, RHO, RP1, RPE65
31van buchem disease9.6CRX, PRPH2, RPE65, RPGR
32adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency9.6CRB1, CRX, RPE65, TULP1
33leber congenital amaurosis 99.4CRB1, CRX, RDH12, RPE65, TULP1
34camptodactyly-arthropathy-coxa vara-pericarditis syndrome9.4CRB1, CRX, PRPH2, RHO, RPE65
35epidural spinal canal angiolipoma9.4CRB1, PRPH2, RHO, RP1, RPE65, RPGR
36tendinosis9.2CRB1, CRX, PRPH2, RDH12, RHO, RPE65
37adult liposarcoma8.9CRB1, CRX, PRPH2, RDH12, RHO, ROM1
38puerperal pulmonary embolism8.9CRB1, CRX, IFT140, RDH12, RHO, ROM1
39polyhydramnios8.8C1QTNF5, CRB1, CRX, PRPH2, RHO, ROM1
40liver cirrhosis8.7CRB1, CRX, IFT140, PRPH2, RDH12, RHO
41sertoli cell-only syndrome8.6CRB1, CRX, IFT140, PRPH2, RDH12, RHO
42hypertrichotic osteochondrodysplasia8.5C1QTNF5, CRB1, CRX, IFT140, PRPH2, RDH12

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



Diseases related to retinal degeneration, late-onset, autosomal dominant

Symptoms & Phenotypes for Retinal Degeneration, Late-Onset, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

605670

Clinical features from OMIM:

605670

Human phenotypes related to Retinal Degeneration, Late-Onset, Autosomal Dominant:

 64
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy64 HP:0000510
2 retinal degeneration64 HP:0000546
3 visual loss64 HP:0000572
4 scotoma64 HP:0000575
5 adult-onset night blindness64 HP:0007830

MGI Mouse Phenotypes related to Retinal Degeneration, Late-Onset, Autosomal Dominant according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.8C1QTNF5, CRX, IFT140, PRPH2, RHO, ROM1
2MP:00011867.4C1QTNF5, CRB1, CRX, PRPH2, RHO, RPE65
3MP:00036316.0C1QTNF5, CRB1, CRX, IFT140, PRPH2, RDH12
4MP:00053915.2C1QTNF5, CRB1, CRX, IFT140, PRPH2, RDH12

Drugs & Therapeutics for Retinal Degeneration, Late-Onset, Autosomal Dominant

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

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PseudoephedrineapprovedPhase 1, Phase 262890-82-47028
Synonyms:
( )-Pseudoephedrine
(+) threo-2-(methylamino)-1-phenyl-1-propanol
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(1S,2S)-(+)-Pseudoephedrine
(1S,2S)-2-(methylamino)-1-phenylpropan-1-ol
(1S,2S)-2-Methylamino-1-phenyl-1-propanol
(1S,2S)-Pseudoephedrine
(1S,2S)-Pseudoephedrine, polymer-bound
1-Ephedrine
2-(Methylamino)-1-phenyl-1-propanol
287636_ALDRICH
304-87-0
30987-59-8
37577-31-4
649031_ALDRICH
90-82-4
AC-20292
AC1L1NUA
Acunaso
Acunaso (TN)
Afrinol
BIDD:GT0817
BRD-K84175871-003-02-2
BSPBio_003261
Balminil Decongestant Syrup
Benylin Decongestant
Benzenemethanol, alpha-((1S)-1-(methylamino)ethyl)-, (alpha-S)- (9CI)
Besan
C02765
C10H15NO
CHEBI:51209
CHEMBL1590
CID7028
CPD-9954
Cenafed
D-Isoephedrine
D-Pseudoephedrine
D-Pseudoephedrine base
D-Psi-2-Methylamino-1-phenyl-1-propanol
D-Psi-Ephedrine
D08449
DB00852
Decofed
Dimetapp Decongestant
Dimetapp Decongestant Pediatric Drops
DivK1c_000451
Drixoral N.D.
Drixoral Nasal Decongestant
EINECS 202-018-6
Efidac 24 Pseudoephedrine Hcl
Efidac/24
Eltor 120
Ephedrine
Genaphed
HSDB 3177
I01-8928
IDI1_000451
Isoephedrine
KBio1_000451
 
KBio2_001358
KBio2_003926
KBio2_006494
KBio3_002762
KBioGR_001763
KBioSS_001358
L(+)-Psi-Ephedrine
L(+)-psi-Ephedrine
L-(+)-Pseudoephedrine
LS-125922
Lopac-E-3250
Maxenal
MolPort-001-684-474
Myfedrine
NCGC00015408-01
NCGC00178180-01
NCI60_002955
NINDS_000451
Neodurasina
Neodurasina (TN)
Novafed
PDSP1_001347
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoefedrina [INN-Spanish]
Pseudoephedrine
Pseudoephedrine (D)
Pseudoephedrine (INN)
Pseudoephedrine D-form
Pseudoephedrine Ephedrine
Pseudoephedrine [INN:BAN]
Pseudoephedrine d-form
Pseudoephedrinum
Pseudoephedrinum [INN-Latin]
Psi-ephedrin
Psi-ephedrine
Robidrine
SPBio_001365
STOCK1N-42675
Spectrum2_001303
Spectrum3_001771
Spectrum4_001162
Spectrum5_000650
Spectrum_000878
Sudafed
Sudafed Decongestant
Sudafed Decongestant 12 Hour
Sudafed Decongestant Extra Strength
Triaminic AM Decongestant Formula
Triaminic Infant Oral Decongestant Drops
UNII-7CUC9DDI9F
alpha-(1-(Methylamino)ethyl)benzyl alcohol
d-Isoephedrine
d-Pseudoephedrine
d-psi-2-Methylamino-1-phenyl-1-propanol
d-psi-Ephedrine
pseudoéphédrine
trans-Ephedrine
ψ-ephedrine
2
EphedrineapprovedPhase 1, Phase 2628299-42-39294
Synonyms:
( )-Pseudoephedrine
(+)-Ephedrin
(+)-Ephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(+-)-Ephedrine
(-)-Ephedrine
(-)-Pseudoephedrine
(-)-psi-Ephedrine
(-)-threo-Ephedrine
(1R,2R)-Ephedrine
(1R,2S)-1-Phenyl-1-hydroxy-2-methylaminopropane
(1S,2R)-Ephedrine
(L)-EPHEDRINE
--EPHEDRINE
1-EPHEDRINE
1-Sedrin
134910_ALDRICH
287636_ALDRICH
287644_ALDRICH
299-42-3
304-87-0
30987-59-8
321-96-0
321-97-1
321-98-2
37577-31-4
38732-95-5
45261_FLUKA
4607-45-8
50-98-6
50906-05-3
53214-57-6
649031_ALDRICH
6912-63-6
7009-81-6
90-82-4
968-63-8
AC-20231
AC-20292
AC1L1JGK
AC1L1NUA
AC1L1RFA
AC1L1SR1
AC1L1T31
AC1L1Y3M
AC1O8JUO
AC1Q3XJE
AC1Q3XJM
AC1Q3XJN
AC1Q59F5
AC1Q7701
AI3-02761
AKOS000268842
AR-1A0126
AR-1I7143
Acunaso
Acunaso (TN)
Afrinol
Ambap299-42-3
BIDD:GT0817
BRN 3197916
BRN 4231286
BSPBio_001946
BSPBio_001968
BSPBio_003261
Benylin Decongestant
Besan
Biophedrin
C01575
C02765
C10H15NO
CHEBI:15407
CHEBI:51209
CHEMBL1590
CHEMBL211456
CHEMBL357080
CID11972440
CID5032
CID62946
CID6710657
CID7028
CID8650
CID9294
CID9457
CPD-9954
CPDD 0049
Cenafed
D00124
D08449
DB00852
DB01364
Decofed
DivK1c_000181
DivK1c_000451
DivK1c_000461
Drixoral N.D.
EINECS 202-017-0
EINECS 202-018-6
EINECS 206-080-5
EINECS 206-292-8
EINECS 206-293-3
Eciphin
Efedrin
Efidac/24
Eltor 120
Ephedral
Ephedremal
Ephedrin
Ephedrine
Ephedrine (TN)
Ephedrine (USP)
Ephedrine [USAN:BAN]
Ephedrine l-form
Ephedrital
Ephedrol
Ephedrosan
Ephedrotal
Ephedsol
Ephendronal
Ephoxamin
Fedrin
Genaphed
HSDB 3072
HSDB 3177
I-Sedrin
I01-3584
I01-8925
I01-8928
 
IDI1_000181
IDI1_000451
IDI1_000461
Isoephedrine
Jsp005664
KBio1_000181
KBio1_000451
KBio1_000461
KBio2_001358
KBio2_001500
KBio2_003926
KBio2_004068
KBio2_006494
KBio2_006636
KBio3_001188
KBio3_001446
KBio3_002762
KBioGR_001013
KBioGR_001763
KBioSS_001358
KBioSS_001500
KST-1A9168
Kratedyn
L(+)-psi-Ephedrine
L(-)-Ephedrine
L-(+)-Ephedrine
L-(-)-Ephedrine
L-Ephedrine
L-erythro-2-(Methylamino)-1-phenylpropan-1-ol
L000968
LS-125921
LS-125922
LS-43083
LS-63961
LS-63962
LS-63963
LS-63964
Lexofedrin
Lopac-E-3250
Lopac0_000501
MLS000069657
Manadrin
Mandrin
Maxenal
MolPort-001-684-474
MolPort-001-684-477
MolPort-001-684-478
MolPort-001-684-479
MolPort-001-769-085
Myfedrine
NCGC00015408-01
NCGC00015408-02
NCGC00162174-01
NCGC00178180-01
NCGC00178889-01
NCI-C55652
NCI60_002955
NINDS_000181
NINDS_000451
NINDS_000461
NSC 165609
NSC 170951
NSC 8971
NSC165609
NSC170951
NSC8971
Nasol
Neodurasina
Neodurasina (TN)
Oprea1_287330
PDSP1_000168
PDSP1_001106
PDSP1_001343
PDSP1_001345
PDSP1_001346
PDSP1_001347
PDSP2_000167
PDSP2_001090
PDSP2_001327
PDSP2_001329
PDSP2_001330
PDSP2_001331
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoephedrine (D)
Pseudoephedrinum
Psi-ephedrin
Psi-ephedrine
Robidrine
SMR000059174
SPBio_000214
SPBio_001365
SPBio_001377
ST023802
STK367993
STOCK1N-42675
Sanedrine
Spectrum2_000137
Spectrum2_001303
Spectrum2_001309
Spectrum3_000414
Spectrum3_000563
Spectrum3_001771
Spectrum4_000497
Spectrum4_001162
Spectrum5_000650
Spectrum5_000879
Spectrum5_001106
Spectrum_000878
Spectrum_001020
Sudafed
Sudafed Decongestant
UNII-03VRY66076
UNII-7CUC9DDI9F
UNII-GN83C131XS
Vencipon
WLN: QYR & Y1 & M1
WLN: QYR&Y1&M1
Zephrol
d-Ephedrine
d-Isoephedrine
d-Pseudoephedrine
d-psi-Ephedrine
l-Ephedrine
l-Pseudoephedrine
racephedrine
trans-Ephedrine
3Respiratory System AgentsPhase 1, Phase 24997
4Vasoconstrictor AgentsPhase 1, Phase 22122
5Autonomic AgentsPhase 1, Phase 210150
6TetrahydrozolinePhase 1, Phase 2621
7Pharmaceutical SolutionsPhase 1, Phase 28192
8Peripheral Nervous System AgentsPhase 1, Phase 223689
9Nasal DecongestantsPhase 1, Phase 2598
10MitogensPhase 1, Phase 21617
11Ophthalmic SolutionsPhase 1, Phase 21140
12Protective Agents7443
13Anesthetics9596
14Antioxidants3050

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP)Unknown statusNCT02110225Phase 1, Phase 2
2Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)RecruitingNCT01773278
3Cell Collection to Study Eye DiseasesRecruitingNCT01432847
4Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

Search NIH Clinical Center for Retinal Degeneration, Late-Onset, Autosomal Dominant

Genetic Tests for Retinal Degeneration, Late-Onset, Autosomal Dominant

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Genetic tests related to Retinal Degeneration, Late-Onset, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Late-Onset Retinal Degeneration27 24 C1QTNF5
2 Pigmentary Retinopathy27

Anatomical Context for Retinal Degeneration, Late-Onset, Autosomal Dominant

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

36
Eye

Publications for Retinal Degeneration, Late-Onset, Autosomal Dominant

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Variations for Retinal Degeneration, Late-Onset, Autosomal Dominant

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

70
id Symbol AA change Variation ID SNP ID
1C1QTNF5p.Ser163ArgVAR_032629rs111033578

Clinvar genetic disease variations for Retinal Degeneration, Late-Onset, Autosomal Dominant:

5
id Gene Variation Type Significance SNP ID Assembly Location
1C1QTNF5NM_ 015645.4(C1QTNF5): c.489C> G (p.Ser163Arg)SNVPathogenic/ Likely pathogenicrs111033578GRCh37Chr 11, 119210284: 119210284

Expression for genes affiliated with Retinal Degeneration, Late-Onset, Autosomal Dominant

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

Pathways for genes affiliated with Retinal Degeneration, Late-Onset, Autosomal Dominant

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GO Terms for genes affiliated with Retinal Degeneration, Late-Onset, Autosomal Dominant

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segment membraneGO:006034210.3RDH12, RHO
2ciliary tipGO:009754210.3IFT140, RP1
3photoreceptor connecting ciliumGO:003239110.2IFT140, RP1
4photoreceptor inner segmentGO:00019179.9RHO, RP1, TULP1
5photoreceptor outer segment membraneGO:00426229.9RHO, ROM1
6ciliumGO:00059299.4IFT140, RP1, RPGR, TULP1
7cell projectionGO:00429959.3C1QTNF5, IFT140, RP1, RPGR, TULP1
8photoreceptor outer segmentGO:00017508.4IFT140, PRPH2, RHO, RP1, RPGR, TULP1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cellular response to light stimulusGO:007148210.6RHO, RP1
2phototransduction, visible lightGO:000760310.6RHO, RP1
3photoreceptor cell outer segment organizationGO:003584510.4IFT140, RP1
4intraciliary transportGO:004207310.3IFT140, RPGR
5eye photoreceptor cell developmentGO:004246210.1CRB1, TULP1
6response to light stimulusGO:000941610.0RHO, RPE65
7cell projection organizationGO:003003010.0IFT140, RP1, RPGR
8detection of light stimulus involved in visual perceptionGO:00509089.9RPE65, TULP1
9retinol metabolic processGO:00425729.9RDH12, RPE65
10retina homeostasisGO:00018959.9RPE65, TULP1
11photoreceptor cell maintenanceGO:00454949.8RDH12, RHO, RP1, TULP1
12retina morphogenesis in camera-type eyeGO:00600429.7ROM1, RP1, RPE65
13retinoid metabolic processGO:00015239.6RDH12, RHO, RPE65
14retina development in camera-type eyeGO:00600418.3IFT140, PRPH2, RHO, RP1, RPE65, TULP1
15response to stimulusGO:00508968.0CRX, RDH12, RHO, RP1, RPE65, RPGR
16visual perceptionGO:00076016.6CRX, PRPH2, RDH12, RHO, ROM1, RP1

Sources for Retinal Degeneration, Late-Onset, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet