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MCID: INH030
MIFTS: 47

Inherited Retinal Disorder

Categories: Eye diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Inherited Retinal Disorder

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MalaCards integrated aliases for Inherited Retinal Disorder:

Name: Inherited Retinal Disorder 58
Retinal Dystrophy 58

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare eye diseases


External Ids:

MESH via Orphanet 44 D058499
UMLS via Orphanet 72 C0854723
Orphanet 58 ORPHA71862
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Summaries for Inherited Retinal Disorder

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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 Brinzolamide have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and kidney, and related phenotypes are nervous system and vision/eye

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Related Diseases for Inherited Retinal Disorder

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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 543)
# 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 10 33.0 IQCB1 GUCY2D CRB1 CEP290
15 macular dystrophy, dominant cystoid 33.0 CRB1 BEST1 ABCA4
16 cone-rod dystrophy 3 32.9 GUCY2D CACNA1F ABCA4
17 retinitis pigmentosa 25 32.9 EYS CDHR1
18 leber congenital amaurosis 1 32.9 IQCB1 GUCY2D CRB1 CNGA1 CEP290
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 cone dystrophy 31.2 KCNV2 GUCY2D EYS BEST1 ABCA4
35 macular dystrophy, vitelliform, 3 31.2 IMPG2 BEST1
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
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Symptoms & Phenotypes for Inherited Retinal Disorder

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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
Sources

Drugs & Therapeutics for Inherited Retinal Disorder

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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
Brinzolamide Approved Phase 2 138890-62-7 68844
3
Ranibizumab Approved Phase 2 347396-82-1 459903
4
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
5 Angiogenesis Inhibitors Phase 2
6 Carbonic Anhydrase Inhibitors Phase 2
7 Pharmaceutical Solutions Phase 1, Phase 2
8 Ophthalmic Solutions Phase 1, Phase 2
9 Mitogens Phase 1, Phase 2
10 Anti-Bacterial Agents Phase 2
11 Anti-Infective Agents Phase 2
12 Protective Agents Phase 2
13 Anesthetics 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 Establishment of the National Registry for Inherited Retinal Dystrophy in Iran Recruiting NCT04131400
19 Objective Perimetry in Normal Subjects,Glaucoma Patients and Retinal Dystrophy Patients Recruiting NCT02014389
20 Natural History of the Progression of Choroideremia Study Recruiting NCT03359551
21 Study on the Effects of Mutations Under Inherited Retinal Disease in Korean Recruiting NCT03613948
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

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Genetic Tests for Inherited Retinal Disorder

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Anatomical Context for Inherited Retinal Disorder

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MalaCards organs/tissues related to Inherited Retinal Disorder:

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

Publications for Inherited Retinal Disorder

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Articles related to Inherited Retinal Disorder:

(show top 50) (show all 1451)
# Title Authors PMID Year
1
(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 2020
2
Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy. 61
31079053 2020
3
Expanding the phenotypic spectrum in RDH12-associated retinal disease. 61
32014858 2020
4
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. 61
31704230 2020
5
Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy. 61
32039647 2020
6
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds. 61
31933420 2020
7
RETINAL DYSTROPHY IN JEUNE SYNDROME: A MULTIMODAL IMAGING CHARACTERIZATION. 61
31958104 2020
8
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1. 61
31939038 2020
9
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. 61
30602132 2020
10
Fundus autofluorescence, spectral-domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model. 61
31989709 2020
11
RPE65 and retinal dystrophy: Report of new and recurrent mutations. 61
31957135 2020
12
Choroidal hyper-reflective foci and vascularity in retinal dystrophy. 61
31856490 2020
13
Sharpening the Molecular Scissors: Advances in Gene-Editing Technology. 61
31901636 2020
14
Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis. 61
32036247 2020
15
Late presentation of RPE65 retinopathy in three siblings. 61
31925606 2020
16
Gene editing prospects for treating inherited retinal diseases. 61
31857428 2019
17
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy. 61
31804667 2019
18
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan. 61
31872526 2019
19
Expanding the clinical and genetic spectrum of Heimler syndrome. 61
31831025 2019
20
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. 61
31856884 2019
21
Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine. 61
31639339 2019
22
Next-Generation Technologies and Strategies for the Management of Retinoblastoma. 61
31835688 2019
23
Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians. 61
31864384 2019
24
Generation of human induced pluripotent stem cell lines from a patient with ITM2B-related retinal dystrophy and a non mutated brother. 61
31731182 2019
25
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy. 61
31878136 2019
26
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. 61
30979730 2019
27
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study. 61
31734136 2019
28
Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia. 61
31482689 2019
29
RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy 61
31725251 2019
30
CHOROIDEREMIA: Retinal Degeneration With an Unmet Need. 61
31021898 2019
31
Expanding the Genetic Landscape of Usher-Like Phenotypes. 61
31725169 2019
32
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES. 61
31725702 2019
33
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 61
31173343 2019
34
Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy. 61
31789649 2019
35
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy. 61
31237438 2019
36
The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype. 61
31718697 2019
37
Causes of blindness in a pediatric age group at a tertiary healthcare center in the eastern province of Saudi Arabia. 61
31588488 2019
38
Retinal dystrophy associated with a Kizuna (KIZ) mutation and a predominantly macular phenotype. 61
31556760 2019
39
Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy. 61
31638456 2019
40
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 61
31630094 2019
41
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation. 61
31750392 2019
42
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. 61
30926958 2019
43
PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. 61
30134391 2019
44
Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking. 61
31348989 2019
45
Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy. 61
31513438 2019
46
PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy. 61
31618092 2019
47
Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations. 61
31494449 2019
48
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 61
30967659 2019
49
Unique Case of Bilateral Exudative Retinal Detachment following Creatine Supplementation in a Patient with Autosomal Dominant Bestrophinopathy. 61
31762771 2019
50
A rare case of obesity. Can it be Bardet-Biedl Syndrome? 61
31534736 2019
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Variations for Inherited Retinal Disorder

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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 DRAM2 NM_178454.5(DRAM2):c.494G>A (p.Trp165Ter)SNV Pathogenic 192239 rs201422368 1:111663161-111663161 1:111120539-111120539
2 DRAM2 NM_178454.5(DRAM2):c.362A>T (p.His121Leu)SNV Pathogenic 192237 rs786205664 1:111663293-111663293 1:111120671-111120671
3 DRAM2 NM_178454.5(DRAM2):c.217_225del (p.Val73_Tyr75del)deletion Pathogenic 192236 rs786205663 1:111667478-111667486 1:111124856-111124864
4 DRAM2 NM_178454.5(DRAM2):c.140del (p.Gly47fs)deletion Pathogenic 192233 rs746559651 1:111668908-111668908 1:111126286-111126286
5 DRAM2 NM_178454.5(DRAM2):c.131G>A (p.Ser44Asn)SNV Pathogenic 192238 rs786205665 1:111674046-111674046 1:111131424-111131424
6 DRAM2 NM_178454.5(DRAM2):c.79T>C (p.Tyr27His)SNV Pathogenic 192235 rs786205662 1:111674098-111674098 1:111131476-111131476
7 DRAM2 NM_178454.5(DRAM2):c.61_63GCT[1] (p.Ala22del)short repeat Pathogenic 192234 rs786205661 1:111674111-111674113 1:111131489-111131491
8 USH2A NM_206933.3(USH2A):c.13374del (p.Glu4458fs)deletion Pathogenic 166428 rs727503715 1:215847879-215847879 1:215674537-215674537
9 PROM1 NM_001145847.2(PROM1):c.1148_1149AT[1] (p.Ile384fs)short repeat Pathogenic 208605 rs746174328 4:16010695-16010696 4:16009072-16009073
10 PRPF31 NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)SNV Pathogenic 224758 rs869312187 19:54631726-54631726 19:54128351-54128351
11 RPGR NM_000328.3(RPGR):c.1905+23C>GSNV Pathogenic 224756 rs869312185 X:38146324-38146324 X:38287071-38287071
12 BBS10 NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)SNV Pathogenic 225010 rs768933093 12:76741994-76741994 12:76348214-76348214
13 PDE6B NM_000283.3(PDE6B):c.291C>A (p.Tyr97Ter)SNV Pathogenic 228390 rs876657718 4:619706-619706 4:625917-625917
14 FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695
15 FAM161A NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)SNV Pathogenic 38 rs202193201 2:62066572-62066572 2:61839437-61839437
16 IQCB1 NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)SNV Pathogenic 1830 rs121918244 3:121500619-121500619 3:121781772-121781772
17 RDH12 NM_152443.3(RDH12):c.806_810del (p.Ala269fs)deletion Pathogenic 2047 rs386834261 14:68196054-68196058 14:67729337-67729341
18 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617
19 BBS2 NM_031885.4(BBS2):c.646C>T (p.Arg216Ter)SNV Pathogenic 4583 rs121908180 16:56540103-56540103 16:56506191-56506191
20 ABCA4 NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)SNV Pathogenic 7907 rs61751383 1:94471056-94471056 1:94005500-94005500
21 GUCY2D NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His)SNV Pathogenic 9357 rs61750173 17:7918019-7918019 17:8014701-8014701
22 RS1 NM_003159.2(CDKL5):c.2797+1123G>ASNV Pathogenic 9887 rs61752067 X:18665333-18665333 X:18647213-18647213
23 RP2 NM_006915.3(RP2):c.358C>T (p.Arg120Ter)SNV Pathogenic 10551 rs104894927 X:46713166-46713166 X:46853731-46853731
24 BBS1 NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)SNV Pathogenic 12143 rs113624356 11:66293652-66293652 11:66526181-66526181
25 CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)SNV Pathogenic 39614 rs62645748 1:197403836-197403836 1:197434706-197434706
26 KCNV2 NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)deletion Pathogenic 39810 rs786205121 9:2717745-2717748 9:2717745-2717748
27 PROM1 NM_001145847.2(PROM1):c.1699C>T (p.Gln567Ter)SNV Pathogenic 5609 rs137853005 4:15995651-15995651 4:15994028-15994028
28 PROM1 NM_001145847.2(PROM1):c.1090C>T (p.Arg364Cys)SNV Pathogenic 5610 rs137853006 4:16014922-16014922 4:16013299-16013299
29 CRB1 NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)SNV Pathogenic 5736 rs137853137 1:197396856-197396856 1:197427726-197427726
30 ABCA4 NM_000350.3(ABCA4):c.5461-10T>CSNV Pathogenic 92870 rs1800728 1:94476951-94476951 1:94011395-94011395
31 EYS NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)SNV Pathogenic 93621 rs398123575 6:64574212-64574212 6:63864319-63864319
32 RPE65 NM_000329.3(RPE65):c.11+5G>ASNV Pathogenic 98825 rs61751276 1:68915573-68915573 1:68449890-68449890
33 CEP290 NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs)deletion Pathogenic 56739 rs386834158 12:88471567-88471567 12:88077790-88077790
34 ABCA4 NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)SNV Pathogenic 99084 rs61749409 1:94528266-94528266 1:94062710-94062710
35 ABCA4 NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)SNV Pathogenic 99218 rs61752419 1:94508342-94508342 1:94042786-94042786
36 ABCA4 NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)SNV Pathogenic 99260 rs61750135 1:94496583-94496583 1:94031027-94031027
37 ABCA4 NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)SNV Pathogenic 99288 rs61751402 1:94495071-94495071 1:94029515-94029515
38 ABCA4 NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)SNV Pathogenic 99331 rs61751403 1:94486895-94486895 1:94021339-94021339
39 ABCA4 NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)SNV Pathogenic 99371 rs61751406 1:94480178-94480178 1:94014622-94014622
40 ABCA4 NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)deletion Pathogenic 99419 rs61751389 1:94473278-94473278 1:94007722-94007722
41 ABCA4 NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)SNV Pathogenic 99460 rs61750654 1:94466426-94466426 1:94000870-94000870
42 PROM1 NM_001145847.2(PROM1):c.1530C>A (p.Tyr510Ter)SNV Pathogenic 100577 rs137853907 4:16002140-16002140 4:16000517-16000517
43 ABCA4 NM_000350.3(ABCA4):c.4773+3A>GSNV Pathogenic 236122 rs759672616 1:94487399-94487399 1:94021843-94021843
44 ABCA4 NM_000350.3(ABCA4):c.4253+5G>ASNV Pathogenic 236110 rs61750138 1:94496547-94496547 1:94030991-94030991
45 USH2A NM_206933.3(USH2A):c.11549-1G>ASNV Pathogenic 236536 rs878853407 1:215914880-215914880 1:215741538-215741538
46 LRAT NM_004744.5(LRAT):c.473G>A (p.Trp158Ter)SNV Pathogenic 236451 rs878853351 4:155665951-155665951 4:154744799-154744799
47 EYS NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)SNV Pathogenic 236447 rs143994166 6:66112400-66112400 6:65402507-65402507
48 RP1 NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)SNV Pathogenic 236414 rs878853326 8:55539191-55539191 8:54626631-54626631
49 CDH23 NM_022124.6(CDH23):c.7908C>G (p.Tyr2636Ter)SNV Pathogenic 236430 rs878853337 10:73565598-73565598 10:71805841-71805841
50 MYO7A NM_000260.4(MYO7A):c.1976C>A (p.Ser659Ter)SNV Pathogenic 236487 rs878853378 11:76885842-76885842 11:77174796-77174796
Sources

Expression for Inherited Retinal Disorder

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

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

# Super pathways Score Top Affiliating Genes
1
Organelle biogenesis and maintenance 65
Show member pathways
 11.75 IQCB1 CEP290 BBS2 BBS10 BBS1
2
Cargo trafficking to the periciliary membrane 65
Show member pathways
 11.16 BBS2 BBS10 BBS1
Sources

GO Terms for Inherited Retinal Disorder

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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

Sources for Inherited Retinal Disorder

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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
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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