MCID: RTN087
MIFTS: 40

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 50 46 12
Late-Onset Retinal Degeneration 50 46 23 52 68 25 66
Lord 46 52 68
 
Autosomal Dominant Late-Onset Retinal Degeneration 46 52
Pigmentary Retinopathy 46 25
Retinitis Pigmentosa 66

Characteristics:

Orphanet epidemiological data:

52
late-onset retinal degeneration:
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: normal life expectancy

HPO:

62
retinal degeneration, late-onset, autosomal dominant:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 605670
Orphanet52 ORPHA67042
MedGen35 C1854065

Summaries for Retinal Degeneration, Late-Onset, Autosomal Dominant

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OMIM:50 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 hardikar syndrome and unilateral absence of a pulmonary artery, and has symptoms including pigmented retinopathy nos, rod-cone dystrophy and retinal degeneration. An important gene associated with Retinal Degeneration, Late-Onset, Autosomal Dominant is C1QTNF5 (C1q And Tumor Necrosis Factor Related Protein 5). Affiliated tissues include eye, and related mouse phenotypes are cardiovascular system and pigmentation.

UniProtKB/Swiss-Prot:68 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 42)
idRelated DiseaseScoreTop Affiliating Genes
1hardikar syndrome11.7
2unilateral absence of a pulmonary artery10.7RP1, RPGR
3macular dystrophy, patterned, 110.7PRPH2, ROM1
4fundus pulverulentus10.6PRPH2, ROM1
5autosomal recessive congenital stationary night blindness10.6PDE6B, RHO
6muscular dystrophy-dystroglycanopathy , type b, 510.6CRX, RPGR
7retinitis10.5
8retinal degeneration10.5
9natural killer cell and glucocorticoid deficiency with dna repair defect10.5PRPH2, RHO, RP1
10combined oxidative phosphorylation deficiency 310.5PDE6B, PRPH2, RHO
11stargardt disease 110.5ABCA4, ROM1
12bullous skin disease10.4CRB1, RHO
13x-linked infantile nystagmus10.4ABCA4, PRPH2, RHO
14macular degeneration, x-linked atrophic10.3ABCA4, RPGR
15branchiootorenal spectrum disorders10.3BEST1, ROM1
16bladder disease10.3BEST1, PRPH2
17spinal muscular atrophy-dandy-walker malformation-cataracts syndrome10.3RHO, TULP1
18leukodystrophy, hypomyelinating, 510.2BEST1, PDE6B
19posterior polar cataract10.2ABCA4, PDE6B, RHO
20acquired color blindness10.2ABCA4, RHO
21very long-chain acyl-coenzyme a dehydrogenase deficiency10.1RPGR, USH2A
22senile reticular retinal degeneration10.1BEST1, PRPH2, ROM1, RPGR
23hypertrichosis terminalis, generalized, with or without gingival hyperplasia10.0ABCA4, CRB1, CRX, PRPH2
24retinitis pigmentosa9.9
25choroiditis9.9
26infiltrating angiolipoma9.8EYS, PRPH2, RHO, RP1, RPGR, SNRNP200
27methylmalonic aciduria, mut(0) type9.7BEST1, IMPG2, PRPH2
28tendinitis9.6ABCA4, CRB1, EYS, PRPH2, RHO, RPGR
29partial fetal alcohol syndrome9.5BEST1, IMPG2, PRPH2, ROM1
30impetigo herpetiformis9.5ABCA4, CRB1, CRX, EYS, PDE6B, USH2A
31macular degeneration, age-related, 18.2ABCA4, BEST1, CRB1, CRX, IMPG2, PDE6B
32localized scleroderma8.2ABCA4, BEST1, C1QTNF5, CRB1, CRX, PDE6B
33ovarian embryonal carcinoma8.1ABCA4, BEST1, CRB1, CRX, PDE6B, PRPH2
34limbal stem cell deficiency7.9ABCA4, BEST1, CRB1, CRX, IFT140, PDE6B
35carnitine deficiency, systemic primary4.9ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
36immunodeficiency 41 with lymphoproliferation and autoimmunity4.9ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
37ichthyosis, congenital, autosomal recessive 34.9ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
38van buchem disease4.9ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
39osteopoikilosis and dacryocystitis4.9ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
40scar contracture4.9ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
41porokeratosis 9, multiple types4.9ABCA4, BEST1, C2orf71, CRB1, CRX, EYS
42hypertrichotic osteochondrodysplasia4.8ABCA4, BEST1, C1QTNF5, C2orf71, CRB1, CRX

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

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

id Description Frequency HPO Source Accession
1 rod-cone dystrophy HP:0000510
2 retinal degeneration HP:0000546
3 visual loss HP:0000572
4 scotoma HP:0000575
5 adult-onset night blindness 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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PseudoephedrinePhase 1, Phase 256990-82-47028
Synonyms:
( )-Pseudoephedrine
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-Psi-ephedrine
(+)-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-2-methylamino-1-phenyl-1-propanol
D-Psi-Ephedrine
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(+)-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
trans-Ephedrine
2
EphedrinePhase 1, Phase 2569299-42-39294
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

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
2Cell Collection to Study Eye DiseasesRecruitingNCT01432847
3Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)RecruitingNCT01773278
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 Degeneration25 23 C1QTNF5
2 Pigmentary Retinopathy25

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

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0ABCA4, C1QTNF5, CRX, IFT140, PDE6B, PRPH2
2MP:00011867.9ABCA4, BEST1, C1QTNF5, C2orf71, CRB1, CRX
3MP:00036316.1ABCA4, C1QTNF5, C2orf71, CRB1, CRX, IFT140
4MP:00053915.6ABCA4, 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:

68
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 50)
id Gene Variation Type Significance SNP ID Assembly Location
1RHONM_000539.3(RHO): c.403C> T (p.Arg135Trp)single nucleotide variantPathogenicrs104893775GRCh37Chr 3, 129249760: 129249760
2RHONM_000539.3(RHO): c.44A> G (p.Asn15Ser)single nucleotide variantPathogenicrs104893786GRCh37Chr 3, 129247620: 129247620
3PDE6BNM_000283.3(PDE6B): c.1669C> T (p.His557Tyr)single nucleotide variantPathogenicrs121918581GRCh37Chr 4, 655977: 655977
4RPE65NM_000329.2(RPE65): c.1543C> T (p.Arg515Trp)single nucleotide variantPathogenicrs121917745GRCh37Chr 1, 68895518: 68895518
5PDE6BNM_000283.3(PDE6B): c.1467+1G> Csingle nucleotide variantPathogenicrs527236089GRCh37Chr 4, 652807: 652807
6PDE6BNM_000283.3(PDE6B): c.1604T> A (p.Ile535Asn)single nucleotide variantPathogenicrs527236088GRCh38Chr 4, 660603: 660603
7PRPH2NM_000322.4(PRPH2): c.410G> A (p.Gly137Asp)single nucleotide variantPathogenicrs527236097GRCh37Chr 6, 42689663: 42689663
8PRPH2NM_000322.4(PRPH2): c.499G> A (p.Gly167Ser)single nucleotide variantPathogenicrs527236098GRCh37Chr 6, 42689574: 42689574
9ROM1NM_000327.3(ROM1): c.331dupG (p.Leu114Alafs)duplicationPathogenicrs527236104GRCh38Chr 11, 62613612: 62613612
10RHONM_000539.3(RHO): c.520G> A (p.Gly174Ser)single nucleotide variantPathogenicrs527236103GRCh37Chr 3, 129249877: 129249877
11RHONM_000539.3(RHO): c.562G> A (p.Gly188Arg)single nucleotide variantPathogenicrs527236100GRCh37Chr 3, 129251125: 129251125
12CRXNM_000554.4(CRX): c.193G> C (p.Asp65His)single nucleotide variantPathogenicrs527236062GRCh38Chr 19, 47836335: 47836335
13NM_001077620.2(PRCD): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs527236092GRCh38Chr 17, 76540143: 76540143
14EYSNM_001142800.1(EYS): c.4957dupA (p.Ser1653Lysfs)duplicationPathogenicrs527236065GRCh38Chr 6, 64590910: 64590910
15EYSNM_001142800.1(EYS): c.6557G> A (p.Gly2186Glu)single nucleotide variantPathogenicrs527236068GRCh37Chr 6, 64791763: 64791763
16EYSNM_001142800.1(EYS): c.7793G> A (p.Gly2598Asp)single nucleotide variantPathogenicrs527236064GRCh37Chr 6, 64488004: 64488004
17EYSNM_001142800.1(EYS): c.7919G> A (p.Trp2640Ter)single nucleotide variantPathogenicrs527236066GRCh37Chr 6, 64472506: 64472506
18EYSNM_001142800.1(EYS): c.8805C> A (p.Tyr2935Ter)single nucleotide variantPathogenicrs527236067GRCh37Chr 6, 64431122: 64431122
19EYSNM_001142800.1(EYS): c.9209T> C (p.Ile3070Thr)single nucleotide variantPathogenicrs183589498GRCh37Chr 6, 64430718: 64430718
20BEST1NM_004183.3(BEST1): c.763C> T (p.Arg255Trp)single nucleotide variantPathogenicrs372989281GRCh38Chr 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)single nucleotide variantPathogenicrs527236113GRCh37Chr 2, 96958828: 96958828
23SNRNP200NM_014014.4(SNRNP200): c.2047G> T (p.Val683Leu)single nucleotide variantPathogenicrs527236114GRCh37Chr 2, 96958823: 96958823
24IMPG2NM_016247.3(IMPG2): c.3262C> T (p.Arg1088Ter)single nucleotide variantPathogenicrs199867882GRCh37Chr 3, 100949961: 100949961
25NM_152443.2(RDH12): c.776delG (p.Glu260Argfs)deletionPathogenicrs527236099GRCh37Chr 14, 68196025: 68196025
26USH2ANM_206933.2(USH2A): c.10544A> G (p.Asp3515Gly)single nucleotide variantPathogenicrs527236119GRCh37Chr 1, 215956121: 215956121
27USH2ANM_206933.2(USH2A): c.15233C> G (p.Pro5078Arg)single nucleotide variantPathogenicrs527236122GRCh37Chr 1, 215807865: 215807865
28USH2ANM_206933.2(USH2A): c.2802T> G (p.Cys934Trp)single nucleotide variantPathogenicrs201527662GRCh37Chr 1, 216419934: 216419934
29USH2ANM_206933.2(USH2A): c.9751T> C (p.Cys3251Arg)single nucleotide variantPathogenicrs527236118GRCh37Chr 1, 215972456: 215972456
30PDE6BNM_000283.3(PDE6B): c.2193+1G> Asingle nucleotide variantPathogenicrs727504075GRCh37Chr 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> Tsingle nucleotide variantPathogenicrs863223339GRCh37Chr 4, 650033: 650033
34RP1NM_006269.1(RP1): c.679T> G (p.Phe227Val)single nucleotide variantPathogenicrs863223340GRCh37Chr 8, 55534740: 55534740
35IFT140NM_014714.3(IFT140): c.3827G> A (p.Gly1276Glu)single nucleotide variantPathogenicrs779007169GRCh38Chr 16, 1520177: 1520177
36CRB1NM_001257965.1(CRB1): c.2711G> A (p.Cys904Tyr)single nucleotide variantPathogenicrs863223341GRCh37Chr 1, 197398685: 197398685
37CRB1NM_001257965.1(CRB1): c.1252dupT (p.Ser418Phefs)duplicationPathogenicrs863223342GRCh38Chr 1, 197421287: 197421287
38PANK2NM_024960.5(PANK2): c.419T> C (p.Phe140Ser)single nucleotide variantPathogenicrs863223343GRCh38Chr 20, 3912514: 3912514
39C2orf71NM_001029883.2(C2orf71): c.712A> T (p.Lys238Ter)single nucleotide variantPathogenicrs863223344GRCh37Chr 2, 29296416: 29296416
40NM_152443.2(RDH12): c.377C> T (p.Ala126Val)single nucleotide variantPathogenicrs202126574GRCh37Chr 14, 68192801: 68192801
41NM_015645.4(C1QTNF5): c.489C> G (p.Ser163Arg)single nucleotide variantLikely pathogenic, Pathogenicrs111033578GRCh37Chr 11, 119210284: 119210284
42PDE6BNM_000283.3(PDE6B): c.291C> A (p.Tyr97Ter)single nucleotide variantLikely 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)single nucleotide variantLikely pathogenic, Pathogenicrs80338902GRCh37Chr 1, 216420460: 216420460
45USH2ANM_206933.2(USH2A): c.14020A> G (p.Arg4674Gly)single nucleotide variantPathogenicrs80338904GRCh37Chr 1, 215844427: 215844427
46ACACBNM_001093.3(ACACB): c.4967G> C (p.Gly1656Ala)single nucleotide variantPathogenicrs878855330GRCh38Chr 12, 109241226: 109241226
47USH2ANM_206933.2(USH2A): c.8559-2A> Gsingle nucleotide variantPathogenicrs397518039GRCh37Chr 1, 216051224: 216051224
48TULP1NM_003322.4(TULP1): c.1145T> C (p.Phe382Ser)single nucleotide variantPathogenicrs121909076GRCh37Chr 6, 35471593: 35471593
49PRPH2NM_000322.4(PRPH2): c.736T> C (p.Trp246Arg)single nucleotide variantPathogenicrs61755817GRCh37Chr 6, 42672195: 42672195
50RPE65NM_000329.2(RPE65): c.118G> A (p.Gly40Ser)single nucleotide variantPathogenicrs61751281GRCh37Chr 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 disc membraneGO:009738110.3ABCA4, PDE6B, RHO
2photoreceptor outer segment membraneGO:004262210.2RHO, ROM1
3cell projectionGO:00429959.8C1QTNF5, RPGR, TULP1
4photoreceptor connecting ciliumGO:00323919.7IFT140, RP1, TOPORS, USH2A
5primary ciliumGO:00723729.6C2orf71, IFT140, RPGR
6ciliary basal bodyGO:00360649.5IFT140, RPGR, TOPORS, USH2A
7photoreceptor inner segmentGO:00019178.8C2orf71, RHO, RP1, TULP1, USH2A
8photoreceptor outer segmentGO:00017508.5ABCA4, C2orf71, IFT140, PRPH2, RHO, RP1

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:000958310.6PDE6B, RHO
2retinal cone cell developmentGO:004654910.5RP1, TOPORS
3retinal rod cell developmentGO:004654810.5RP1, TOPORS
4rhodopsin mediated signaling pathwayGO:001605610.4PDE6B, RHO
5regulation of rhodopsin mediated signaling pathwayGO:002240010.4PDE6B, RHO
6sensory perception of light stimulusGO:005095310.4RHO, USH2A
7intraciliary transportGO:004207310.3IFT140, RPGR
8protein localization to photoreceptor outer segmentGO:190354610.3C2orf71, TULP1
9eye photoreceptor cell developmentGO:004246210.2CRB1, TULP1
10phototransduction, visible lightGO:000760310.1ABCA4, PDE6B, RHO, RP1
11detection of light stimulus involved in visual perceptionGO:00509089.8BEST1, EYS, TULP1
12photoreceptor cell outer segment organizationGO:00358459.6C2orf71, IFT140, RP1, TOPORS
13response to stimulusGO:00508969.5C2orf71, CRX, RPGR, USH2A
14retina development in camera-type eyeGO:00600418.9IFT140, PDE6B, PRPH2, RHO, RP1, TULP1
15photoreceptor cell maintenanceGO:00454948.9ABCA4, RHO, RP1, TULP1, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet