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MCID: INH030
MIFTS: 48

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 59
Retinal Dystrophy 59

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare eye diseases


External Ids:

MESH via Orphanet 45 D058499
UMLS via Orphanet 73 C0854723
Orphanet 59 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 2. 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 cellular and nervous system

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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 514)
# Related Disease Score Top Affiliating Genes
1 hereditary retinal dystrophy 34.8 GUCY2D CEP290
2 cone-rod dystrophy 2 34.1 IQCB1 GUCY2D FAM161A CERKL ABCA4
3 retinitis pigmentosa 19 33.5 CNGA1 ABCA4
4 leber congenital amaurosis 10 33.5 IQCB1 CEP290
5 cone-rod dystrophy 3 33.3 CACNA1F ABCA4
6 macular dystrophy, dominant cystoid 33.2 CRB1 BEST1
7 bardet-biedl syndrome 3 32.4 BBS2 BBS1
8 leber congenital amaurosis 12 32.2 GUCY2D CEP290
9 usher syndrome, type id 31.9 CDHR1 CDH23
10 leber congenital amaurosis 9 31.8 GUCY2D CRB1
11 macular dystrophy, vitelliform, 3 31.5 IMPG2 BEST1
12 nonsyndromic retinitis pigmentosa 31.4 BBS2 BBS1
13 scotoma 31.4 EYS ABCA4
14 fundus dystrophy 31.3 KCNV2 IQCB1 IMPG2 GUCY2D EYS DRAM2
15 occult macular dystrophy 31.3 KCNV2 ABCA4
16 bardet-biedl syndrome 1 31.2 BBS2 BBS10 BBS1
17 retinitis 31.1 FAM161A EYS CERKL ABHD12
18 macular retinal edema 31.0 CRB1 BEST1
19 stargardt disease 31.0 EYS CRB1 ABCA4
20 bardet-biedl syndrome 6 31.0 BBS2 BBS10 BBS1
21 yemenite deaf-blind hypopigmentation syndrome 30.9 GUCY2D CRB1 CEP290 ABCA4
22 mckusick-kaufman syndrome 30.8 BBS2 BBS1
23 polydactyly 30.7 BBS2 BBS10 BBS1
24 macular degeneration, age-related, 1 30.5 CRB1 BEST1 BBS10 ABCA4
25 retinal degeneration 30.5 GUCY2D CRB1 BEST1 ABCA4
26 bardet-biedl syndrome 30.4 CEP290 CDH23 BBS2 BBS10 BBS1
27 leber congenital amaurosis 30.4 IQCB1 GUCY2D CRB1 CEP290 BEST1 ABCA4
28 retinal disease 30.4 IMPG2 GUCY2D CRB1 CEP290 CACNA1F BEST1
29 retinitis pigmentosa 28.3 IQCB1 IMPG2 GUCY2D FAM161A EYS DRAM2
30 doyne honeycomb retinal dystrophy 12.8
31 retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 12.7
32 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.7
33 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.6
34 retinal dystrophy with or without extraocular anomalies 12.6
35 bothnia retinal dystrophy 12.6
36 retinal dystrophy with or without macular staphyloma 12.6
37 retinal dystrophy and obesity 12.6
38 retinal dystrophy, juvenile cataracts, and short stature syndrome 12.5
39 severe early-childhood-onset retinal dystrophy 12.4
40 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 12.4
41 retinal dystrophy and iris coloboma with or without congenital cataract 12.4
42 retinal dystrophy, reticular pigmentary, of posterior pole 12.4
43 syndromic inherited retinal disorder 12.4
44 isolated progressive inherited retinal disorder 12.4
45 isolated stationary inherited retinal disorder 12.4
46 isolated inherited retinal disorder 12.4
47 leber congenital amaurosis / early-onset severe retinal dystrophy 12.3
48 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 12.2
49 leber congenital amaurosis 14 12.2
50 retinal dystrophies primarily involving bruch's membrane 12.2

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 BBS1 BBS10 BBS2 BEST1 CACNA1F CDH23
2 nervous system MP:0003631 9.7 ABCA4 ABHD12 BBS1 BBS10 BBS2 CACNA1F
3 vision/eye MP:0005391 9.47 ABCA4 ABHD12 BBS1 BBS10 BBS2 BEST1
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 15)
# 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 Ophthalmic Solutions Phase 1, Phase 2
5 Mitogens Phase 1, Phase 2
6 Pharmaceutical Solutions Phase 1, Phase 2
7 Antioxidants Phase 2
8 Protective Agents Phase 2
9 Anesthetics Phase 2
10 Angiogenesis Inhibitors Phase 2
11 Angiogenesis Modulating Agents Phase 2
12 Carbonic Anhydrase Inhibitors Phase 2
13 Gastrins
14 insulin
15 Insulin, Globin Zinc

Interventional clinical trials:

(show all 27)
# 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 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
5 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
6 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
7 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
8 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
9 Efficacy and Safety of Intravitreal Ranibizumab (Lucentis®) Injection in the Treatment of Non-leaking Macular Cysts in Patients With Retinal Dystrophy. Active, not recruiting NCT03763227 Phase 2 Intravitreal ranibizumab (IVR) injection;Carbonic Anhydrase Inhibitor (CAI) therapy
10 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
11 Optical Head-Mounted Display Technology for Low Vision Rehabilitation Completed NCT02983305
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 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Completed NCT02670980
14 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
15 A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec Recruiting NCT03597399
16 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
17 Objective Perimetry in Normal Subjects,Glaucoma Patients and Retinal Dystrophy Patients Recruiting NCT02014389
18 Study on the Effects of Mutations Under Inherited Retinal Disease in Korean Recruiting NCT03613948
19 Natural History of the Progression of Choroideremia Study Recruiting NCT03359551
20 The Natural History of Mucolipidosis Type IV Recruiting NCT01067742
21 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
22 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
23 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
24 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
25 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Terminated NCT03561922
26 Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin Fluorescence to Detect Progression in Stargardt Disease Terminated NCT01676766
27 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:

41
Retina, Eye, Testes, Bone, Brain, Kidney, Pituitary
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Publications for Inherited Retinal Disorder

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Articles related to Inherited Retinal Disorder:

(show top 50) (show all 1399)
# Title Authors PMID Year
1
High-Throughput Ca2+ Flux Assay To Monitor Cyclic Nucleotide-Gated Channel Activity and Characterize Achromatopsia Mutant Channel Function. 38
31290651 2019
2
Foveal Sparing in Central Retinal Dystrophies. 38
31398255 2019
3
Potential lifetime quality of life benefits of choroideremia gene therapy: projections from a clinically informed decision model. 38
31312000 2019
4
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping. 38
31387115 2019
5
Development of a Gene Therapy Vector for RDH12-Associated Retinal Dystrophy. 38
31237438 2019
6
Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration. 38
31424981 2019
7
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. 38
30670881 2019
8
Oral and dental findings in Bardet-Biedl syndrome: A case report. 38
31293272 2019
9
A Novel Mutation in the Choroideremia Gene in a Turkish Family. 38
31253224 2019
10
Establishment of an induced pluripotent stem cell line (FRIMOi005-A) derived from a retinitis pigmentosa patient carrying a dominant mutation in RHO gene. 38
31146251 2019
11
Knocking out lca5 in zebrafish causes cone-rod dystrophy due to impaired outer segment protein trafficking. 38
31348989 2019
12
A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. 38
31342828 2019
13
Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy. 38
31215831 2019
14
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. 38
30973214 2019
15
Ophthalmic diagnosis and optical coherence tomography of abetalipoproteinemia, a treatable form of pediatric retinal dystrophy. 38
30731125 2019
16
Homozygous and heterozygous retinal phenotypes in families harbouring IMPG2 mutations. 38
31264916 2019
17
Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene. 38
31264915 2019
18
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 38
31173343 2019
19
Correction: Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. 38
31138590 2019
20
Paradoxical response to carbonic anhydrase inhibitors in patients with intraretinal cystoid spaces. 38
31266384 2019
21
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment. 38
30773800 2019
22
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction? 38
31091803 2019
23
Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy. 38
31079053 2019
24
Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy. 38
30924391 2019
25
Importance of ocular electrophysiology in the diagnosis of retinal dystrophies. 38
30711256 2019
26
Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome. 38
30701423 2019
27
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. 38
30870047 2019
28
CHOROIDEREMIA: Retinal Degeneration With an Unmet Need. 38
31021898 2019
29
Exudative Retinal Detachment due to Coats Disease in a Teenager with Senior-Loken Syndrome: Case Report and Review of Literature. 38
31205846 2019
30
Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations. 38
30798147 2019
31
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 38
30967659 2019
32
Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration. 38
30979730 2019
33
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants. 38
30926958 2019
34
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. 38
30689204 2019
35
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY: Detailed Clinical Study of a Large Cohort. 38
29300249 2019
36
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 38
30614526 2019
37
Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium. 38
30836785 2019
38
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. 38
30101608 2019
39
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers. 38
30917587 2019
40
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. 38
30268864 2019
41
A novel mutation in MERTK for rod-cone dystrophy in a North Indian family. 38
30851773 2019
42
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10. 38
30664785 2019
43
Posterior polar annular choroidal dystrophy association with cystoid macular edema. 38
30847215 2019
44
Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3). 38
30446867 2019
45
Choroidal structural analysis and vascularity index in retinal dystrophies. 38
30178525 2019
46
Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability. 38
30559292 2019
47
Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene. 38
30488743 2019
48
Gene therapy for retinal dystrophy. 38
30718907 2019
49
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 38
30718709 2019
50
Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln. 38
30822235 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 405)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VPS13B NM_017890.4(VPS13B): c.4620del (p.Ser1541fs) deletion Pathogenic rs1057518939 8:100523652-100523652 8:99511424-99511424
2 CRB1 NM_201253.3(CRB1): c.3542dup (p.Cys1181fs) duplication Pathogenic rs1553263218 1:197404535-197404535 1:197435405-197435405
3 ABCA4 NM_000350.3(ABCA4): c.1557C> A (p.Cys519Ter) single nucleotide variant Pathogenic rs1553192726 1:94528871-94528871 1:94063315-94063315
4 PCARE NM_001029883.3(PCARE): c.758G> A (p.Trp253Ter) single nucleotide variant Pathogenic rs750987123 2:29296370-29296370 2:29073504-29073504
5 IMPG2 NM_016247.4(IMPG2): c.1680T> A (p.Tyr560Ter) single nucleotide variant Pathogenic rs758291149 3:100963495-100963495 3:101244651-101244651
6 PROM1 NM_001145847.2(PROM1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs373331232 4:16025003-16025003 4:16023380-16023380
7 PROM1 NM_001145847.2(PROM1): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs780697796 4:16035000-16035000 4:16033377-16033377
8 PRPH2 NM_000322.5(PRPH2): c.259_266del (p.Asp87fs) deletion Pathogenic rs1554270834 6:42689807-42689814 6:42722069-42722076
9 LCA5 NM_181714.4(LCA5): c.838C> T (p.Arg280Ter) single nucleotide variant Pathogenic rs866395428 6:80203350-80203350 6:79493633-79493633
10 CDHR1 NM_001171971.3(CDHR1): c.1463del (p.Gly488fs) deletion Pathogenic rs756678484 10:85970899-85970899 10:84211143-84211143
11 RGR NM_002921.3(RGR): c.*74dup duplication Pathogenic rs1554824273 10:86018469-86018469 10:84258713-84258713
12 ABHD12 NM_015600.5(ABHD12): c.193C> T (p.Arg65Ter) single nucleotide variant Pathogenic rs758316679 20:25319986-25319986 20:25339350-25339350
13 MFRP NM_031433.4(MFRP): c.955C> T (p.Gln319Ter) single nucleotide variant Pathogenic rs1555037395 11:119215045-119215045 11:119344335-119344335
14 BEST1 NM_004183.4(BEST1): c.-37+1G> T single nucleotide variant Pathogenic rs1555096248 11:61717900-61717900 11:61950428-61950428
15 NR2E3 NM_014249.4(NR2E3): c.767C> A (p.Ala256Glu) single nucleotide variant Pathogenic rs377257254 15:72105748-72105748 15:71813408-71813408
16 IQCB1 NM_001023570.4(IQCB1): c.1632_1638dup (p.Ala547fs) duplication Pathogenic 3:121489351-121489357 3:121770504-121770510
17 IQCB1 NM_001023570.4(IQCB1): c.994C> T (p.Arg332Ter) single nucleotide variant Pathogenic 3:121509055-121509055 3:121790208-121790208
18 RPGR NM_000328.3(RPGR): c.1905+1042G> T single nucleotide variant Pathogenic X:38145305-38145305 X:38286052-38286052
19 FAM161A NM_001201543.2(FAM161A): c.1309A> T (p.Arg437Ter) single nucleotide variant Pathogenic rs200691042 2:62066830-62066830 2:61839695-61839695
20 FAM161A NM_001201543.2(FAM161A): c.1567C> T (p.Arg523Ter) single nucleotide variant Pathogenic rs202193201 2:62066572-62066572 2:61839437-61839437
21 IQCB1 NM_001023570.4(IQCB1): c.1381C> T (p.Arg461Ter) single nucleotide variant Pathogenic rs121918244 3:121500619-121500619 3:121781772-121781772
22 RDH12 NM_152443.3(RDH12): c.806_810del (p.Ala269fs) deletion Pathogenic rs386834261 14:68196055-68196059 14:67729338-67729342
23 CERKL NM_001030311.2(CERKL): c.847C> T (p.Arg283Ter) single nucleotide variant Pathogenic rs121909398 2:182423344-182423344 2:181558617-181558617
24 PROM1 NM_001145847.2(PROM1): c.1699C> T (p.Gln567Ter) single nucleotide variant Pathogenic rs137853005 4:15995651-15995651 4:15994028-15994028
25 PROM1 NM_001145847.2(PROM1): c.1090C> T (p.Arg364Cys) single nucleotide variant Pathogenic rs137853006 4:16014922-16014922 4:16013299-16013299
26 CRB1 NM_201253.3(CRB1): c.2401A> T (p.Lys801Ter) single nucleotide variant Pathogenic rs137853137 1:197396856-197396856 1:197427726-197427726
27 ABCA4 NM_000350.3(ABCA4): c.6088C> T (p.Arg2030Ter) single nucleotide variant Pathogenic rs61751383 1:94471056-94471056 1:94005500-94005500
28 GUCY2D NM_000180.3(GUCY2D): c.2513G> A (p.Arg838His) single nucleotide variant Pathogenic rs61750173 17:7918019-7918019 17:8014701-8014701
29 RS1 NM_000330.3(RS1): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs61752067 X:18665333-18665333 X:18647213-18647213
30 RP2 NM_006915.3(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 X:46713166-46713166 X:46853731-46853731
31 BBS1 NM_024649.5(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 11:66293652-66293652 11:66526181-66526181
32 CRB1 NM_201253.3(CRB1): c.2843G> A (p.Cys948Tyr) single nucleotide variant Pathogenic rs62645748 1:197403836-197403836 1:197434706-197434706
33 KCNV2 NM_133497.4(KCNV2): c.8_11del (p.Lys3fs) deletion Pathogenic rs786205121 9:2717747-2717750 9:2717747-2717750
34 BBS2 NM_031885.4(BBS2): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs121908180 16:56540103-56540103 16:56506191-56506191
35 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 12:88471567-88471567 12:88077790-88077790
36 ABCA4 NM_000350.3(ABCA4): c.5461-10T> C single nucleotide variant Pathogenic rs1800728 1:94476951-94476951 1:94011395-94011395
37 EYS NM_001142800.2(EYS): c.7095T> G (p.Tyr2365Ter) single nucleotide variant Pathogenic rs398123575 6:64574212-64574212 6:63864319-63864319
38 RPE65 NM_000329.3(RPE65): c.11+5G> A single nucleotide variant Pathogenic rs61751276 1:68915573-68915573 1:68449890-68449890
39 ABCA4 NM_000350.3(ABCA4): c.3303G> A (p.Trp1101Ter) single nucleotide variant Pathogenic rs61752419 1:94508342-94508342 1:94042786-94042786
40 ABCA4 NM_000350.3(ABCA4): c.4222T> C (p.Trp1408Arg) single nucleotide variant Pathogenic rs61750135 1:94496583-94496583 1:94031027-94031027
41 ABCA4 NM_000350.3(ABCA4): c.4469G> A (p.Cys1490Tyr) single nucleotide variant Pathogenic rs61751402 1:94495071-94495071 1:94029515-94029515
42 ABCA4 NM_000350.3(ABCA4): c.1804C> T (p.Arg602Trp) single nucleotide variant Pathogenic rs61749409 1:94528266-94528266 1:94062710-94062710
43 ABCA4 NM_000350.3(ABCA4): c.4919G> A (p.Arg1640Gln) single nucleotide variant Pathogenic rs61751403 1:94486895-94486895 1:94021339-94021339
44 ABCA4 NM_000350.3(ABCA4): c.5917del (p.Gly1972_Val1973insTer) deletion Pathogenic rs61751389 1:94473278-94473278 1:94007722-94007722
45 ABCA4 NM_000350.3(ABCA4): c.6445C> T (p.Arg2149Ter) single nucleotide variant Pathogenic rs61750654 1:94466426-94466426 1:94000870-94000870
46 PROM1 NM_001145847.2(PROM1): c.1530C> A (p.Tyr510Ter) single nucleotide variant Pathogenic rs137853907 4:16002140-16002140 4:16000517-16000517
47 USH2A NM_206933.3(USH2A): c.13374del (p.Glu4458fs) deletion Pathogenic rs727503715 1:215847879-215847879 1:215674537-215674537
48 DRAM2 NM_178454.5(DRAM2): c.494G> A (p.Trp165Ter) single nucleotide variant Pathogenic rs201422368 1:111663161-111663161 1:111120539-111120539
49 DRAM2 NM_178454.5(DRAM2): c.362A> T (p.His121Leu) single nucleotide variant Pathogenic rs786205664 1:111663293-111663293 1:111120671-111120671
50 DRAM2 NM_178454.5(DRAM2): c.217_225del (p.Val73_Tyr75del) deletion Pathogenic rs786205663 1:111667478-111667486 1:111124856-111124864
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 66
Show member pathways
 11.75 IQCB1 CEP290 BBS2 BBS10 BBS1
2
Cargo trafficking to the periciliary membrane 66
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 12)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.81 IQCB1 CEP290 BBS2 BBS1
2 cilium GO:0005929 9.72 FAM161A CEP290 BBS2 BBS10 BBS1
3 photoreceptor disc membrane GO:0097381 9.48 GUCY2D ABCA4
4 ciliary basal body GO:0036064 9.46 FAM161A CEP290 BBS2 BBS1
5 photoreceptor connecting cilium GO:0032391 9.43 IQCB1 FAM161A CEP290
6 photoreceptor outer segment membrane GO:0042622 9.4 CNGA1 CDHR1
7 BBSome GO:0034464 9.37 BBS2 BBS1
8 photoreceptor inner segment GO:0001917 9.26 FAM161A DRAM2 CRB1 CERKL
9 photoreceptor outer segment GO:0001750 9.02 IQCB1 CNGA1 CERKL CACNA1F ABCA4
10 membrane GO:0016020 10.31 KCNV2 IMPG2 GUCY2D DRAM2 CRB1 CNGA1
11 integral component of membrane GO:0016021 10.27 KCNV2 IMPG2 GUCY2D DRAM2 CRB1 CNGA1
12 plasma membrane GO:0005886 10.23 KCNV2 GUCY2D DRAM2 CRB1 CNGA1 CDHR1

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 Golgi to plasma membrane protein transport GO:0043001 9.48 BBS2 BBS1
8 regulation of rhodopsin mediated signaling pathway GO:0022400 9.46 GUCY2D CNGA1
9 visual perception GO:0007601 9.44 IMPG2 GUCY2D FAM161A EYS DRAM2 CNGA1
10 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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