MCID: RTN087
MIFTS: 43

Retinal Degeneration, Late-Onset, Autosomal Dominant 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 51 47 12
Late-Onset Retinal Degeneration 51 47 24 53 69 26 67
Lord 47 53 69
 
Autosomal Dominant Late-Onset Retinal Degeneration 47 53
Pigmentary Retinopathy 47 26
Retinitis Pigmentosa 67

Characteristics:

Orphanet epidemiological data:

53
late-onset retinal degeneration:
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: normal life expectancy

HPO:

63
retinal degeneration, late-onset, autosomal dominant:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 53 
Rare eye diseases


External Ids:

OMIM51 605670
Orphanet53 ORPHA67042
MedGen36 C1854065

Summaries for Retinal Degeneration, Late-Onset, Autosomal Dominant

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OMIM:51 Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth... (605670) more...

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 Tumor Necrosis Factor Related Protein 5), and among its related pathways are Phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include eye, and related mouse phenotypes are cardiovascular system and pigmentation.

UniProtKB/Swiss-Prot:69 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 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal recessive pericentral pigmentary retinopathy12.1
2dominant pericentral pigmentary retinopathy12.0
3macular dystrophy, patterned, 110.6PRPH2, ROM1
4autosomal recessive congenital stationary night blindness10.6PDE6B, RHO
5fundus pulverulentus10.6PRPH2, ROM1
6unilateral absence of a pulmonary artery10.6RP1, RPGR
7combined oxidative phosphorylation deficiency 310.5PDE6B, PRPH2, RHO
8branchiootorenal spectrum disorders10.5BEST1, ROM1
9bladder disease10.4BEST1, PRPH2
10natural killer cell and glucocorticoid deficiency with dna repair defect10.4PRPH2, RHO, RP1
11bullous skin disease10.4CRB1, RHO
12muscular dystrophy-dystroglycanopathy , type b, 510.4CRX, RPGR
13retinitis10.4
14retinal degeneration10.4
15stargardt disease 110.4ABCA4, ROM1
16x-linked infantile nystagmus10.4ABCA4, PRPH2, RHO
17spinal muscular atrophy-dandy-walker malformation-cataracts syndrome10.3RHO, TULP1
18leukodystrophy, hypomyelinating, 510.3BEST1, PDE6B
19senile reticular retinal degeneration10.2BEST1, PRPH2, ROM1, RPGR
20macular degeneration, x-linked atrophic10.2ABCA4, RPGR
21posterior polar cataract10.2ABCA4, PDE6B, RHO
22methylmalonic aciduria, mut(0) type10.2BEST1, IMPG2, PRPH2
23acquired color blindness10.2ABCA4, RHO
24very long-chain acyl-coenzyme a dehydrogenase deficiency10.1RPGR, USH2A
25infiltrating angiolipoma10.1PRPH2, RHO, RP1, RPGR, SNRNP200
26partial fetal alcohol syndrome10.0BEST1, IMPG2, PRPH2, ROM1
27tendinitis9.9ABCA4, CRB1, PRPH2, RHO, RPGR
28hypertrichosis terminalis, generalized, with or without gingival hyperplasia9.9ABCA4, CRB1, CRX, PRPH2
29retinitis pigmentosa9.8
30choroiditis9.8
31impetigo herpetiformis9.5ABCA4, CRB1, CRX, PDE6B, RDH12, USH2A
32macular degeneration, age-related, 18.9ABCA4, BEST1, CRB1, CRX, IMPG2, PDE6B
33limbal stem cell deficiency8.6ABCA4, BEST1, CRB1, CRX, PDE6B, PRPH2
34ovarian embryonal carcinoma8.4ABCA4, BEST1, CRB1, CRX, PDE6B, PRPH2
35localized scleroderma8.4ABCA4, BEST1, C1QTNF5, CRB1, CRX, PDE6B
36carnitine deficiency, systemic primary6.8ABCA4, BEST1, C2orf71, CRB1, CRX, IMPG2
37immunodeficiency 41 with lymphoproliferation and autoimmunity6.8ABCA4, BEST1, C2orf71, CRB1, CRX, IMPG2
38ichthyosis, congenital, autosomal recessive 36.8ABCA4, BEST1, C2orf71, CRB1, CRX, IMPG2
39osteopoikilosis and dacryocystitis6.8ABCA4, BEST1, C2orf71, CRB1, CRX, IMPG2
40hypertrichotic osteochondrodysplasia6.7ABCA4, BEST1, C1QTNF5, C2orf71, CRB1, CRX
41van buchem disease6.7ABCA4, BEST1, C2orf71, CRB1, CRX, IMPG2
42porokeratosis 9, multiple types6.7ABCA4, BEST1, C2orf71, CRB1, CRX, IMPG2
43scar contracture6.4ABCA4, BEST1, C2orf71, CRB1, CRX, IMPG2

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 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:

 63
id Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy63 HP:0000510
2 retinal degeneration63 HP:0000546
3 visual loss63 HP:0000572
4 scotoma63 HP:0000575
5 adult-onset night blindness63 HP:0007830

UMLS symptoms related to Retinal Degeneration, Late-Onset, Autosomal Dominant:


pigmented retinopathy nos

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 260690-82-47028
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 2606299-42-39294
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 24818
4Vasoconstrictor AgentsPhase 1, Phase 22027
5Autonomic AgentsPhase 1, Phase 29774
6TetrahydrozolinePhase 1, Phase 2593
7Pharmaceutical SolutionsPhase 1, Phase 27793
8Peripheral Nervous System AgentsPhase 1, Phase 222776
9Nasal DecongestantsPhase 1, Phase 2578
10MitogensPhase 1, Phase 21526
11Ophthalmic SolutionsPhase 1, Phase 21092
12Protective Agents7190
13Anesthetics9001
14Antioxidants2928

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Dose Ranging Study to Evaluate the Safety and Potential Efficacy of rhNGF in Patients With Retinitis Pigmentosa (RP)Active, not recruitingNCT02110225Phase 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 Degeneration26 24 C1QTNF5
2 Pigmentary Retinopathy26

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

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

35
Eye

Animal Models for Retinal Degeneration, Late-Onset, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Retinal Degeneration, Late-Onset, Autosomal Dominant:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1ABCA4, C1QTNF5, CRX, PDE6B, PRPH2, RHO
2MP:00011868.5ABCA4, BEST1, C1QTNF5, C2orf71, CRB1, CRX
3MP:00036317.2ABCA4, C1QTNF5, C2orf71, CRB1, CRX, PANK2
4MP:00053916.2ABCA4, BEST1, C1QTNF5, C2orf71, CRB1, CRX

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:

69
id Symbol AA change Variation ID SNP ID
1C1QTNF5p.Ser163ArgVAR_032629rs111033578

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

5 (show all 53)
id Gene Variation Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)SNVPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)SNVPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)SNVPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)SNVPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5PDE6BNM_000283.3(PDE6B): c.1467+1G> CSNVPathogenicrs527236089GRCh37Chr 4, 652807: 652807
6PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)SNVPathogenicrs527236088GRCh37Chr 4, 654392: 654392
7PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)SNVPathogenicrs527236097GRCh37Chr 6, 42689663: 42689663
8PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)SNVPathogenicrs527236098GRCh37Chr 6, 42689574: 42689574
9ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicrs527236104GRCh38Chr 11, 62613612: 62613612
10RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)SNVPathogenicrs527236103GRCh37Chr 3, 129249877: 129249877
11RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)SNVPathogenicrs527236100GRCh37Chr 3, 129251125: 129251125
12CRXNM_000554.5(CRX): c.193G> C (p.Asp65His)SNVPathogenicrs527236062GRCh38Chr 19, 47836335: 47836335
13PRCDNM_001077620.2(PRCD): c.2T> C (p.Met1Thr)SNVPathogenicrs527236092GRCh37Chr 17, 74536225: 74536225
14EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicrs527236065GRCh38Chr 6, 64590910: 64590910
15EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)SNVPathogenicrs527236068GRCh37Chr 6, 64791763: 64791763
16EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)SNVPathogenicrs527236064GRCh37Chr 6, 64488004: 64488004
17EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)SNVPathogenicrs527236066GRCh37Chr 6, 64472506: 64472506
18EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)SNVPathogenicrs527236067GRCh37Chr 6, 64431122: 64431122
19EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)SNVPathogenicrs183589498GRCh37Chr 6, 64430718: 64430718
20BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)SNVPathogenicrs372989281GRCh38Chr 11, 61958194: 61958194
21TOPORSNM_005802.4(TOPORS): c.2554_2557delGAGA (p.Glu852Glnfs)deletionPathogenicrs527236116GRCh37Chr 9, 32541966: 32541969
22SNRNP200NM_014014.4(SNRNP200): c.2042G> A (p.Arg681His)SNVPathogenicrs527236113GRCh37Chr 2, 96958828: 96958828
23SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)SNVPathogenicrs527236114GRCh37Chr 2, 96958823: 96958823
24IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)SNVPathogenicrs199867882GRCh37Chr 3, 100949961: 100949961
25RDH12NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicrs527236099GRCh37Chr 14, 68196025: 68196025
26USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)SNVPathogenicrs527236119GRCh37Chr 1, 215956121: 215956121
27USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)SNVPathogenicrs527236122GRCh37Chr 1, 215807865: 215807865
28USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)SNVPathogenicrs201527662GRCh37Chr 1, 216419934: 216419934
29USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)SNVPathogenicrs527236118GRCh37Chr 1, 215972456: 215972456
30PDE6BNM_000283.3(PDE6B): c.2193+1G> ASNVPathogenicrs727504075GRCh37Chr 4, 658734: 658734
31RPGRNM_001034853.1(RPGR): c.2426_2427delAG (p.Glu809Glyfs)deletionPathogenicrs730882261GRCh37Chr X, 38145825: 38145826
32ABCA4NM_000350.2(ABCA4): c.2927delT (p.Leu976Argfs)deletionPathogenicrs863223338GRCh38Chr 1, 94044736: 94044736
33PDE6BNM_000283.3(PDE6B): c.1060-1G> TSNVPathogenicrs863223339GRCh37Chr 4, 650033: 650033
34RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)SNVPathogenicrs863223340GRCh37Chr 8, 55534740: 55534740
35IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)SNVPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
36CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)SNVPathogenicrs863223341GRCh37Chr 1, 197398685: 197398685
37CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicrs863223342GRCh38Chr 1, 197421287: 197421287
38PANK2NM_024960.5(PANK2): c.419T> C (p.Phe140Ser)SNVPathogenicrs863223343GRCh38Chr 20, 3912514: 3912514
39C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)SNVPathogenicrs863223344GRCh37Chr 2, 29296416: 29296416
40RDH12NM_152443.2(RDH12): c.377C> T (p.Ala126Val)SNVPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
41C1QTNF5NM_015645.4(C1QTNF5): c.489C> G (p.Ser163Arg)SNVLikely pathogenic, Pathogenicrs111033578GRCh37Chr 11, 119210284: 119210284
42PDE6BNM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter)SNVLikely pathogenic, Pathogenicrs876657718GRCh37Chr 4, 619706: 619706
43USH2ANM_206933.2(USH2A): c.2299delG (p.Glu767Serfs)deletionPathogenicrs80338903GRCh37Chr 1, 216420437: 216420437
44USH2ANM_206933.2(USH2A): c.2276G> T (p.Cys759Phe)SNVLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
45USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)SNVPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
46RCBTB1NM_018191.3(RCBTB1): c.919G> A (p.Val307Met)SNVLikely pathogenic, Pathogenicrs368217569GRCh37Chr 13, 50123720: 50123720
47RCBTB1NM_018191.3(RCBTB1): c.930G> T (p.Trp310Cys)SNVLikely pathogenic, Pathogenicrs772592456GRCh37Chr 13, 50123709: 50123709
48RCBTB1NM_018191.3(RCBTB1): c.973C> T (p.His325Tyr)SNVLikely pathogenic, Pathogenicrs200826424GRCh37Chr 13, 50123666: 50123666
49RCBTB1NM_018191.3(RCBTB1): c.1164G> T (p.Leu388Phe)SNVLikely pathogenic, Pathogenicrs879255547GRCh37Chr 13, 50118881: 50118881
50USH2ANM_206933.2(USH2A): c.8559-2A> GSNVPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
51TULP1NM_003322.5(TULP1): c.1145T> C (p.Phe382Ser)SNVPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
52PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)SNVPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
53RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)SNVPathogenicrs61751281GRCh37Chr 1, 68912520: 68912520

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:006034210.7RDH12, RHO
2photoreceptor outer segment membraneGO:004262210.5RHO, ROM1
3photoreceptor disc membraneGO:009738110.4ABCA4, PDE6B, RHO
4photoreceptor connecting ciliumGO:003239110.3RP1, TOPORS, USH2A
5ciliary basal bodyGO:003606410.2RPGR, TOPORS, USH2A
6cell projectionGO:00429959.9C1QTNF5, RPGR, TULP1
7photoreceptor inner segmentGO:00019179.5C2orf71, RHO, RP1, TULP1, USH2A
8photoreceptor outer segmentGO:00017509.2ABCA4, C2orf71, PRPH2, RHO, RP1, RPGR

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1detection of light stimulusGO:000958310.7PDE6B, RHO
2sensory perception of light stimulusGO:005095310.5RHO, USH2A
3rhodopsin mediated signaling pathwayGO:001605610.5PDE6B, RHO
4regulation of rhodopsin mediated signaling pathwayGO:002240010.5PDE6B, RHO
5retinal rod cell developmentGO:004654810.5RP1, TOPORS
6protein localization to photoreceptor outer segmentGO:190354610.5C2orf71, TULP1
7detection of light stimulus involved in visual perceptionGO:005090810.4BEST1, TULP1
8eye photoreceptor cell developmentGO:004246210.3CRB1, TULP1
9photoreceptor cell outer segment organizationGO:003584510.1C2orf71, RP1, TOPORS
10retinal cone cell developmentGO:004654910.1RP1, TOPORS
11phototransduction, visible lightGO:000760310.1ABCA4, PDE6B, RHO, RP1
12retinoid metabolic processGO:00015239.9ABCA4, RDH12, RHO
13retina development in camera-type eyeGO:00600419.5PDE6B, PRPH2, RHO, RP1, TULP1
14photoreceptor cell maintenanceGO:00454949.0ABCA4, RDH12, RHO, RP1, TULP1, USH2A
15response to stimulusGO:00508968.9C2orf71, CRX, PRCD, RDH12, RPGR, USH2A
16visual perceptionGO:00076016.2ABCA4, BEST1, C2orf71, CRX, IMPG2, PDE6B

Sources for Retinal Degeneration, Late-Onset, Autosomal Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet