MCID: INH030
MIFTS: 47

Inherited Retinal Disorder

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Inherited Retinal Disorder

MalaCards integrated aliases for Inherited Retinal Disorder:

Name: Inherited Retinal Disorder 58
Retinal Dystrophy 58

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

MESH via Orphanet 44 D058499
UMLS via Orphanet 72 C0854723
Orphanet 58 ORPHA71862

Summaries for Inherited Retinal Disorder

MalaCards based summary : Inherited Retinal Disorder, also known as retinal dystrophy, is related to hereditary retinal dystrophy and cone-rod dystrophy 16. An important gene associated with Inherited Retinal Disorder is ABCA4 (ATP Binding Cassette Subfamily A Member 4), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Acetazolamide and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are nervous system and vision/eye

Related Diseases for Inherited Retinal Disorder

Diseases in the Retinal Disease family:

Inherited Retinal Disorder Rare Retinal Disorder

Diseases related to Inherited Retinal Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 536)
# Related Disease Score Top Affiliating Genes
1 hereditary retinal dystrophy 34.1 GUCY2D EYS CRB1 CNGA1 CEP290 ABCA4
2 cone-rod dystrophy 16 34.0 DRAM2 CERKL
3 fundus albipunctatus 33.6 CRB1 CERKL CACNA1F BEST1 ABCA4
4 leber congenital amaurosis 11 33.3 GUCY2D CRB1
5 leber congenital amaurosis 7 33.2 GUCY2D CRB1
6 retinitis pigmentosa 50 33.2 EYS BEST1
7 leber congenital amaurosis 8 33.2 GUCY2D CRB1
8 senior-loken syndrome 1 33.2 IQCB1 GUCY2D CRB1 CEP290 BBS2 BBS10
9 leber congenital amaurosis 3 33.2 GUCY2D CRB1 CEP290
10 leber congenital amaurosis 6 33.2 GUCY2D CRB1 CEP290
11 leber congenital amaurosis 2 33.2 GUCY2D CRB1 CEP290
12 leber congenital amaurosis 4 33.2 GUCY2D CRB1 CEP290
13 cone-rod dystrophy 2 33.1 IQCB1 GUCY2D FAM161A DRAM2 CRB1 CERKL
14 leber congenital amaurosis 1 33.0 IQCB1 GUCY2D CRB1 CEP290
15 leber congenital amaurosis 10 33.0 IQCB1 GUCY2D CRB1 CEP290
16 macular dystrophy, dominant cystoid 33.0 CRB1 BEST1 ABCA4
17 cone-rod dystrophy 3 32.9 GUCY2D CACNA1F ABCA4
18 retinitis pigmentosa 25 32.9 EYS CDHR1
19 bestrophinopathy, autosomal recessive 32.8 IMPG2 CRB1 BEST1 ABCA4
20 cranioectodermal dysplasia 1 32.8 IQCB1 CEP290 BBS2
21 retinitis pigmentosa 26 32.7 CERKL CDHR1
22 joubert syndrome 1 32.7 IQCB1 GUCY2D CRB1 CEP290 BBS2 BBS10
23 alstrom syndrome 32.6 CEP290 BBS2 BBS10 BBS1
24 bardet-biedl syndrome 10 32.5 BBS2 BBS10 BBS1
25 bardet-biedl syndrome 3 32.4 CEP290 BBS2 BBS10 BBS1
26 cone-rod dystrophy 6 32.3 KCNV2 IMPG2 GUCY2D CRB1 CERKL CACNA1F
27 nephronophthisis 12 32.1 IQCB1 CEP290
28 leber congenital amaurosis 16 31.9 GUCY2D CRB1
29 leber congenital amaurosis 9 31.9 GUCY2D CRB1 CEP290
30 retinitis pigmentosa 32 31.8 IMPG2 ABCA4
31 vitelliform macular dystrophy 31.8 IMPG2 BEST1 ABCA4
32 basal laminar drusen 31.8 IMPG2 BEST1 ABCA4
33 retinitis pigmentosa 29 31.7 FAM161A CNGA1 CERKL CDHR1
34 macular dystrophy, vitelliform, 3 31.2 IMPG2 BEST1
35 cone dystrophy 31.2 KCNV2 GUCY2D EYS BEST1 ABCA4
36 usher syndrome, type iid 31.1 CDH23 ABHD12
37 usher syndrome, type iiia 31.1 CRB1 CNGA1 CERKL CDH23 ABHD12
38 fundus dystrophy 31.1 KCNV2 IQCB1 IMPG2 GUCY2D FAM161A EYS
39 nonsyndromic retinitis pigmentosa 31.0 BBS2 BBS1 ABCA4
40 usher syndrome, type iia 31.0 EYS CRB1 CDHR1 CDH23
41 pathologic nystagmus 31.0 KCNV2 GUCY2D CRB1 CEP290 CACNA1F BBS1
42 occult macular dystrophy 30.9 KCNV2 IMPG2 GUCY2D ABCA4
43 bardet-biedl syndrome 1 30.9 BBS2 BBS10 BBS1
44 macular degeneration, age-related, 1 30.8 IMPG2 GUCY2D CRB1 CEP290 BEST1 BBS10
45 retinoschisis 1, x-linked, juvenile 30.8 CRB1 CACNA1F ABCA4
46 coloboma of macula 30.8 IQCB1 CRB1 CEP290 BBS2
47 yemenite deaf-blind hypopigmentation syndrome 30.7 GUCY2D CRB1 CEP290 ABCA4
48 scotoma 30.7 KCNV2 GUCY2D EYS CERKL ABCA4
49 bardet-biedl syndrome 2 30.7 BBS2 ABHD12
50 retinal ciliopathy 30.7 IQCB1 CEP290

Graphical network of the top 20 diseases related to Inherited Retinal Disorder:



Diseases related to Inherited Retinal Disorder

Symptoms & Phenotypes for Inherited Retinal Disorder

MGI Mouse Phenotypes related to Inherited Retinal Disorder:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.9 ABCA4 ABHD12 BBS1 BBS10 BBS2 CACNA1F
2 vision/eye MP:0005391 9.47 ABCA4 ABHD12 BBS1 BBS10 BBS2 BEST1
3 pigmentation MP:0001186 9.35 ABCA4 BEST1 CEP290 CRB1 DRAM2

Drugs & Therapeutics for Inherited Retinal Disorder

Drugs for Inherited Retinal Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
2
Ranibizumab Approved Phase 2 347396-82-1 459903
3
Brinzolamide Approved Phase 2 138890-62-7 68844
4
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
5 Angiogenesis Inhibitors Phase 2
6 Carbonic Anhydrase Inhibitors Phase 2
7 Mitogens Phase 1, Phase 2
8 Pharmaceutical Solutions Phase 1, Phase 2
9 Ophthalmic Solutions Phase 1, Phase 2
10 Anti-Bacterial Agents Phase 2
11 Anti-Infective Agents Phase 2
12 Anesthetics Phase 2
13 Protective Agents Phase 2
14 Antioxidants Phase 2
15 Gastrins
16 Insulin, Globin Zinc
17 insulin

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 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
2 A Novel Therapeutic Strategy Targeting Photoreceptor Oxidative Damage in ABCR-related Retinal Degenerations Unknown status NCT01278277 Phase 1, Phase 2
3 An Open-label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno Associated Virus Vector for Gene Therapy of Adults And Children With Retinal Dystrophy Associated With Defects in RPE65 (LCA) Completed NCT02781480 Phase 1, Phase 2
4 Efficacy and Safety of Intravitreal Ranibizumab (Lucentis®) Injection in the Treatment of Non-leaking Macular Cysts in Patients With Retinal Dystrophy. Completed NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
5 Prospective Monocentric Open Label Non Randomized Uncontrolled Phase I/II Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65 Completed NCT01496040 Phase 1, Phase 2 rAAV2/4.hRPE65
6 An Open-label Dose Escalation Study of an Adeno-associated Virus Vector (AAV2/2-hRPE65p-hRPE65) for Gene Therapy of Severe Early-onset Retinal Degeneration Completed NCT00643747 Phase 1, Phase 2
7 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
8 The Efficacy and Safety of Oral Minocycline in the Treatment of Retinitis Pigmentosa: An Open-label Clinical Trial Recruiting NCT04068207 Phase 2 Minocycline
9 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
10 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
11 Restoring Vision With the Intelligent Retinal Implant System (IRIS V1)in Patients With Retinal Dystrophy (Title in France: Compensation of Vision With the Intelligent Retinal Implant System (IRIS V1) in Patients With Retinal Dystrophy) Completed NCT01864486
12 Genetical, Multi-center, Prospective Study of Phenotyping and Genotyping of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy in the Aim of the Realisation of a Clinical Trial of Gene Therapy Completed NCT00422721
13 Optical Head-Mounted Display Technology for Low Vision Rehabilitation Completed NCT02983305
14 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Completed NCT02670980
15 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This Retinal Dystrophy Completed NCT02970266
16 A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec Recruiting NCT03597399
17 Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno-associated Virus Vector (AAV2/5-OPTIRPE65) for Gene Therapy of Adults and Children With Retinal Dystrophy Owing to Defects in RPE65 (LCA2) Recruiting NCT02946879
18 Objective Perimetry in Normal Subjects,Glaucoma Patients and Retinal Dystrophy Patients Recruiting NCT02014389
19 Establishment of the National Registry for Inherited Retinal Dystrophy in Iran Recruiting NCT04131400
20 Study on the Effects of Mutations Under Inherited Retinal Disease in Korean Recruiting NCT03613948
21 Natural History of the Progression of Choroideremia Study Recruiting NCT03359551
22 The Natural History of Mucolipidosis Type IV Recruiting NCT01067742
23 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
24 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
25 A Long-Term Follow-Up Study in Subjects Who Received an Adenovirus-Associated Viral Vector Serotype 2 Containing the Human RPE65 Gene (AAV2-hRPE65v2, Voretigene Neparvovec-rzyl) Administered Via Subretinal Injection Active, not recruiting NCT03602820
26 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
27 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Terminated NCT03561922
28 Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin Fluorescence to Detect Progression in Stargardt Disease Terminated NCT01676766
29 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics Terminated NCT00078091

Search NIH Clinical Center for Inherited Retinal Disorder

Genetic Tests for Inherited Retinal Disorder

Anatomical Context for Inherited Retinal Disorder

MalaCards organs/tissues related to Inherited Retinal Disorder:

40
Retina, Eye, Testes, Bone, Brain, Kidney, Pituitary

Publications for Inherited Retinal Disorder

Articles related to Inherited Retinal Disorder:

(show top 50) (show all 1434)
# Title Authors PMID Year
1
Next-Generation Technologies and Strategies for the Management of Retinoblastoma. 61
31835688 2019
2
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy. 61
31804667 2019
3
Expanding the clinical and genetic spectrum of Heimler syndrome. 61
31831025 2019
4
Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine. 61
31639339 2019
5
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. 61
30979730 2019
6
Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother. 61
31731182 2019
7
CHOROIDEREMIA: Retinal Degeneration With an Unmet Need. 61
31021898 2019
8
(Z)-7,4'-Dimethoxy-6-hydroxy-aurone-4-O-β-glucopyranoside mitigates retinal degeneration in Rd10 mouse model through inhibiting oxidative stress and inflammatory responses. 61
31648555 2019
9
Expanding the Genetic Landscape of Usher-Like Phenotypes. 61
31725169 2019
10
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. 61
31482689 2019
11
CEP290 mutation spectrum and delineation of the associated phenotype in a large German cohort: a monocentric study. 61
31734136 2019
12
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. 61
31704230 2019
13
RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 61
31725251 2019
14
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES. 61
31725702 2019
15
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 61
31173343 2019
16
Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy. 61
31789649 2019
17
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy. 61
31237438 2019
18
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype. 61
31718697 2019
19
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 61
31630094 2019
20
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation. 61
31750392 2019
21
Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking. 61
31348989 2019
22
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. 61
30134391 2019
23
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. 61
30926958 2019
24
Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy. 61
31638456 2019
25
Retinal dystrophy associated with a Kizuna (KIZ) mutation and a predominantly macular phenotype. 61
31556760 2019
26
Causes of blindness in a pediatric age group at a tertiary healthcare center in the eastern province of Saudi Arabia. 61
31588488 2019
27
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy. 61
31513438 2019
28
Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations. 61
31494449 2019
29
PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy. 61
31618092 2019
30
A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia. 61
31514470 2019
31
A rare case of obesity. Can it be Bardet-Biedl Syndrome? 61
31534736 2019
32
VISUAL IMPAIRMENT IN RETINITIS PIGMENTOSA. 61
31568063 2019
33
Vascular Patterns in Retinitis Pigmentosa on Swept-Source Optical Coherence Tomography Angiography. 61
31510025 2019
34
Unique Case of Bilateral Exudative Retinal Detachment following Creatine Supplementation in a Patient with Autosomal Dominant Bestrophinopathy. 61
31762771 2019
35
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 61
30967659 2019
36
Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials. 61
31443789 2019
37
NICE recommends gene therapy for inherited retinal dystrophy. 61
31484640 2019
38
High-Throughput Ca2+ Flux Assay To Monitor Cyclic Nucleotide-Gated Channel Activity and Characterize Achromatopsia Mutant Channel Function. 61
31290651 2019
39
Foveal Sparing in Central Retinal Dystrophies. 61
31398255 2019
40
Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. 61
31470097 2019
41
Potential lifetime quality of life benefits of choroideremia gene therapy: projections from a clinically informed decision model. 61
31312000 2019
42
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. 61
30670881 2019
43
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping. 61
31387115 2019
44
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration. 61
31424981 2019
45
A Novel Mutation in the Choroideremia Gene in a Turkish Family. 61
31253224 2019
46
Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene. 61
31146251 2019
47
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. 61
31763177 2019
48
Oral and dental findings in Bardet-Biedl syndrome: A case report. 61
31293272 2019
49
A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. 61
31342828 2019
50
Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy. 61
30731125 2019

Variations for Inherited Retinal Disorder

ClinVar genetic disease variations for Inherited Retinal Disorder:

6 (show top 50) (show all 404) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695
2 FAM161A NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)SNV Pathogenic 38 rs202193201 2:62066572-62066572 2:61839437-61839437
3 RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs)deletion Pathogenic 2047 rs386834261 14:68196055-68196059 14:67729338-67729342
4 BBS2 NM_031885.4(BBS2):c.646C>T (p.Arg216Ter)SNV Pathogenic 4583 rs121908180 16:56540103-56540103 16:56506191-56506191
5 PROM1 NM_001145847.2(PROM1):c.1699C>T (p.Gln567Ter)SNV Pathogenic 5609 rs137853005 4:15995651-15995651 4:15994028-15994028
6 PROM1 NM_001145847.2(PROM1):c.1090C>T (p.Arg364Cys)SNV Pathogenic 5610 rs137853006 4:16014922-16014922 4:16013299-16013299
7 CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)SNV Pathogenic 5736 rs137853137 1:197396856-197396856 1:197427726-197427726
8 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)SNV Pathogenic 7907 rs61751383 1:94471056-94471056 1:94005500-94005500
9 BBS1 NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)SNV Pathogenic 12143 rs113624356 11:66293652-66293652 11:66526181-66526181
10 KCNV2 NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)deletion Pathogenic 39810 rs786205121 9:2717747-2717750 9:2717747-2717750
11 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617
12 ABCA4 NM_000350.3(ABCA4):c.5461-10T>CSNV Pathogenic 92870 rs1800728 1:94476951-94476951 1:94011395-94011395
13 EYS NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)SNV Pathogenic 93621 rs398123575 6:64574212-64574212 6:63864319-63864319
14 RPE65 NM_000329.3(RPE65):c.11+5G>ASNV Pathogenic 98825 rs61751276 1:68915573-68915573 1:68449890-68449890
15 ABCA4 NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)SNV Pathogenic 99331 rs61751403 1:94486895-94486895 1:94021339-94021339
16 ABCA4 NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)SNV Pathogenic 99460 rs61750654 1:94466426-94466426 1:94000870-94000870
17 USH2A NM_206933.3(USH2A):c.13374del (p.Glu4458fs)deletion Pathogenic 166428 rs727503715 1:215847879-215847879 1:215674537-215674537
18 DRAM2 NM_178454.5(DRAM2):c.494G>A (p.Trp165Ter)SNV Pathogenic 192239 rs201422368 1:111663161-111663161 1:111120539-111120539
19 DRAM2 NM_178454.5(DRAM2):c.362A>T (p.His121Leu)SNV Pathogenic 192237 rs786205664 1:111663293-111663293 1:111120671-111120671
20 DRAM2 NM_178454.5(DRAM2):c.217_225del (p.Val73_Tyr75del)deletion Pathogenic 192236 rs786205663 1:111667478-111667486 1:111124856-111124864
21 DRAM2 NM_178454.5(DRAM2):c.140del (p.Gly47fs)deletion Pathogenic 192233 rs746559651 1:111668908-111668908 1:111126286-111126286
22 DRAM2 NM_178454.5(DRAM2):c.131G>A (p.Ser44Asn)SNV Pathogenic 192238 rs786205665 1:111674046-111674046 1:111131424-111131424
23 DRAM2 NM_178454.5(DRAM2):c.79T>C (p.Tyr27His)SNV Pathogenic 192235 rs786205662 1:111674098-111674098 1:111131476-111131476
24 DRAM2 NM_178454.5(DRAM2):c.61_63GCT[1] (p.Ala22del)short repeat Pathogenic 192234 rs786205661 1:111674111-111674113 1:111131489-111131491
25 PRPF31 NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)SNV Pathogenic 224758 rs869312187 19:54631726-54631726 19:54128351-54128351
26 RPGR NM_000328.3(RPGR):c.1905+23C>GSNV Pathogenic 224756 rs869312185 X:38146324-38146324 X:38287071-38287071
27 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)SNV Pathogenic 225010 rs768933093 12:76741994-76741994 12:76348214-76348214
28 PDE6B NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter)SNV Pathogenic 228390 rs876657718 4:619706-619706 4:625917-625917
29 ABCA4 NM_000350.3(ABCA4):c.4773+3A>GSNV Pathogenic 236122 rs759672616 1:94487399-94487399 1:94021843-94021843
30 ABCA4 NM_000350.3(ABCA4):c.4253+5G>ASNV Pathogenic 236110 rs61750138 1:94496547-94496547 1:94030991-94030991
31 PROM1 NM_001145847.2(PROM1):c.1148_1149AT[1] (p.Ile384fs)short repeat Pathogenic 208605 rs746174328 4:16010695-16010696 4:16009072-16009073
32 USH2A NM_206933.3(USH2A):c.11549-1G>ASNV Pathogenic 236536 rs878853407 1:215914880-215914880 1:215741538-215741538
33 PROM1 NM_001145847.2(PROM1):c.1530C>A (p.Tyr510Ter)SNV Pathogenic 100577 rs137853907 4:16002140-16002140 4:16000517-16000517
34 ABCA4 NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)SNV Pathogenic 99288 rs61751402 1:94495071-94495071 1:94029515-94029515
35 ABCA4 NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)SNV Pathogenic 99260 rs61750135 1:94496583-94496583 1:94031027-94031027
36 ABCA4 NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)SNV Pathogenic 99218 rs61752419 1:94508342-94508342 1:94042786-94042786
37 ABCA4 NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)SNV Pathogenic 99084 rs61749409 1:94528266-94528266 1:94062710-94062710
38 CEP290 NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs)deletion Pathogenic 56739 rs386834158 12:88471567-88471567 12:88077790-88077790
39 CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)SNV Pathogenic 39614 rs62645748 1:197403836-197403836 1:197434706-197434706
40 RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter)SNV Pathogenic 10551 rs104894927 X:46713166-46713166 X:46853731-46853731
41 RS1 NM_003159.2(CDKL5):c.2797+1123G>ASNV Pathogenic 9887 rs61752067 X:18665333-18665333 X:18647213-18647213
42 GUCY2D NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His)SNV Pathogenic 9357 rs61750173 17:7918019-7918019 17:8014701-8014701
43 ABCA4 NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)deletion Pathogenic 99419 rs61751389 1:94473278-94473278 1:94007722-94007722
44 IQCB1 NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)SNV Pathogenic 1830 rs121918244 3:121500619-121500619 3:121781772-121781772
45 LRAT NM_004744.5(LRAT):c.473G>A (p.Trp158Ter)SNV Pathogenic 236451 rs878853351 4:155665951-155665951 4:154744799-154744799
46 EYS NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)SNV Pathogenic 236447 rs143994166 6:66112400-66112400 6:65402507-65402507
47 RP1 NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)SNV Pathogenic 236414 rs878853326 8:55539191-55539191 8:54626631-54626631
48 CDH23 NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)SNV Pathogenic 236430 rs878853337 10:73565598-73565598 10:71805841-71805841
49 MYO7A NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)SNV Pathogenic 236487 rs878853378 11:76885842-76885842 11:77174796-77174796
50 CEP290 NM_025114.3(CEP290):c.2052+1_2052+2delGTdeletion Pathogenic 236466 rs747835249 12:88508195-88508196 12:88114418-88114419

Expression for Inherited Retinal Disorder

Search GEO for disease gene expression data for Inherited Retinal Disorder.

Pathways for Inherited Retinal Disorder

Pathways related to Inherited Retinal Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 IQCB1 CEP290 BBS2 BBS10 BBS1
2
Show member pathways
11.16 BBS2 BBS10 BBS1

GO Terms for Inherited Retinal Disorder

Cellular components related to Inherited Retinal Disorder according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.35 KCNV2 IMPG2 GUCY2D DRAM2 CRB1 CNGA1
2 plasma membrane GO:0005886 10.29 KCNV2 GUCY2D DRAM2 CRB1 CNGA1 CDHR1
3 cell projection GO:0042995 9.97 FAM161A EYS CEP290 BBS2 BBS10 BBS1
4 microtubule organizing center GO:0005815 9.8 IQCB1 EYS CEP290 BBS2 BBS1
5 cilium GO:0005929 9.63 FAM161A EYS CEP290 BBS2 BBS10 BBS1
6 ciliary basal body GO:0036064 9.56 FAM161A CEP290 BBS2 BBS1
7 photoreceptor connecting cilium GO:0032391 9.54 IQCB1 FAM161A CEP290
8 photoreceptor disc membrane GO:0097381 9.52 GUCY2D ABCA4
9 photoreceptor outer segment membrane GO:0042622 9.46 CNGA1 CDHR1
10 BBSome GO:0034464 9.43 BBS2 BBS1
11 interphotoreceptor matrix GO:0033165 9.32 IMPG2 EYS
12 photoreceptor inner segment GO:0001917 9.26 FAM161A DRAM2 CRB1 CERKL
13 photoreceptor outer segment GO:0001750 9.17 IQCB1 GUCY2D EYS CNGA1 CERKL CACNA1F

Biological processes related to Inherited Retinal Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.9 GUCY2D FAM161A EYS CNGA1 CDH23 CACNA1F
2 cilium assembly GO:0060271 9.77 IQCB1 FAM161A CEP290 BBS2 BBS1
3 cell projection organization GO:0030030 9.65 IQCB1 FAM161A CEP290 BBS2 BBS1
4 non-motile cilium assembly GO:1905515 9.58 BBS2 BBS10 BBS1
5 photoreceptor cell maintenance GO:0045494 9.56 IQCB1 DRAM2 CDHR1 CDH23 BBS2 BBS10
6 detection of light stimulus involved in visual perception GO:0050908 9.5 EYS CACNA1F BEST1
7 visual perception GO:0007601 9.44 IMPG2 GUCY2D FAM161A EYS DRAM2 CNGA1
8 eye photoreceptor cell development GO:0042462 9.43 CRB1 CEP290

Molecular functions related to Inherited Retinal Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.8 BBS2 BBS10 BBS1

Sources for Inherited Retinal Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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