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MCID: INH030
MIFTS: 51

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 cone-rod dystrophy 2 and leber congenital amaurosis / early-onset severe retinal dystrophy. 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 Ranibizumab and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and testes, and related phenotypes are behavior/neurological and growth/size/body region

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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 551)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 34.8 CACNA1F CABP4 BEST1 ALMS1 AIPL1 ABCA4
2 leber congenital amaurosis / early-onset severe retinal dystrophy 34.7 CABP4 ALMS1 AIPL1
3 senior-loken syndrome 1 34.4 CC2D2A BBS5 BBS2 BBS12 BBS10 BBS1
4 fundus dystrophy 34.3 NYX CDH23 CC2D2A CACNA1F CABP4 C1QTNF5
5 fundus albipunctatus 34.2 CACNA1F BEST1 ABCA4
6 joubert syndrome 1 33.8 CC2D2A BBS5 BBS2 BBS1 ALMS1 AIPL1
7 cone-rod dystrophy 6 33.7 CACNA1F CABP4 BEST1 ABHD12 ABCA4
8 joubert syndrome 3 33.6 CC2D2A AHI1 ADGRV1
9 cranioectodermal dysplasia 1 33.4 CC2D2A BBS9 BBS2 BBS1 AHI1
10 joubert syndrome 4 33.3 CC2D2A BBS2 ALMS1 AHI1
11 vitreoretinochoroidopathy 33.3 BEST1 ABCA4
12 cone-rod dystrophy 3 33.3 CACNA1F CABP4 ABCA4
13 alstrom syndrome 33.1 BBS7 BBS5 BBS2 BBS12 BBS10 BBS1
14 bestrophinopathy, autosomal recessive 33.0 BEST1 ABCA4
15 bardet-biedl syndrome 3 32.9 BBS9 BBS7 BBS5 BBS2 BBS12 BBS10
16 bardet-biedl syndrome 10 32.9 BBS2 BBS12 BBS10 BBS1 ALMS1
17 cone-rod dystrophy, x-linked, 3 32.8 NYX CACNA1F CABP4
18 joubert syndrome 13 32.8 CC2D2A BBS2 AHI1
19 joubert syndrome 6 32.8 CC2D2A AHI1
20 joubert syndrome 5 32.7 CC2D2A AHI1
21 joubert syndrome 10 32.7 CC2D2A AHI1
22 joubert syndrome 9 32.7 CC2D2A AHI1
23 joubert syndrome 7 32.7 CC2D2A AHI1
24 joubert syndrome 2 32.6 CC2D2A AHI1
25 joubert syndrome 8 32.6 CC2D2A AHI1
26 macular dystrophy, dominant cystoid 32.5 BEST1 ABCA4
27 basal laminar drusen 32.0 BEST1 ABCA4
28 pathologic nystagmus 32.0 NYX CACNA1F CABP4 ALMS1 AIPL1 AHI1
29 usher syndrome, type iiia 31.8 CDH23 AIPL1 ADGRV1 ABHD12
30 usher syndrome type 2 31.6 CDH23 BBS1 ADGRV1 ABHD12 ABCA4
31 retinitis pigmentosa 31.6 NYX CDH23 CC2D2A CACNA1F CABP4 BEST1
32 usher syndrome, type iic 31.6 CDH23 ADGRV1 ABHD12
33 eye disease 31.6 CACNA1F CABP4 BEST1 AIPL1 ABCA4
34 usher syndrome, type ih 31.5 CDH23 ADGRV1
35 polydactyly 31.5 CC2D2A BBS7 BBS5 BBS2 BBS12 BBS10
36 usher syndrome, type ij 31.5 CDH23 ADGRV1
37 pigmented paravenous chorioretinal atrophy 31.5 AIPL1 ABCA4
38 retinal disease 31.4 NYX CDH23 CACNA1F CABP4 BEST1 BBS9
39 usher syndrome, type iid 31.4 CDH23 ADGRV1
40 nonsyndromic retinitis pigmentosa 31.4 BBS2 BBS1 ABCA4
41 leber plus disease 31.3 CC2D2A CACNA1F CABP4 BEST1 BBS9 BBS5
42 bardet-biedl syndrome 1 31.3 BBS9 BBS7 BBS2 BBS12 BBS10 BBS1
43 usher syndrome 31.3 CDH23 BBS1 ADGRV1 ABHD12 ABCA4
44 retinoschisis 1, x-linked, juvenile 31.2 NYX CACNA1F CABP4 BEST1 ABCA4
45 nephronophthisis 31.2 CC2D2A BBS7 BBS5 BBS2 BBS1 AHI1
46 bardet-biedl syndrome 6 31.2 BBS9 BBS7 BBS5 BBS2 BBS12 BBS10
47 congenital stationary night blindness 31.1 NYX CACNA1F CABP4 BEST1 BBS2 AIPL1
48 mckusick-kaufman syndrome 31.1 BBS7 BBS5 BBS2 BBS12 BBS10 BBS1
49 achromatopsia 31.1 NYX CACNA1F CABP4 BEST1 AIPL1 ABCA4
50 usher syndrome, type if 31.1 CDH23 ADGRV1

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 behavior/neurological MP:0005386 10.3 ABHD12 ADGRV1 AHI1 ALMS1 BBS1 BBS10
2 growth/size/body region MP:0005378 10.18 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
3 cellular MP:0005384 10.17 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
4 adipose tissue MP:0005375 10.13 ALMS1 BBS1 BBS10 BBS12 BBS2 BBS5
5 homeostasis/metabolism MP:0005376 10.1 ABCA4 ABHD12 AHI1 ALMS1 BBS1 BBS10
6 nervous system MP:0003631 10.09 ABCA4 ABHD12 ADGRV1 AHI1 AIPL1 ALMS1
7 hearing/vestibular/ear MP:0005377 9.85 ABHD12 ADGRV1 ALMS1 BBS1 CC2D2A CDH23
8 limbs/digits/tail MP:0005371 9.73 ADGRV1 BBS1 BBS2 BBS7 BBS9 CC2D2A
9 vision/eye MP:0005391 9.58 ABCA4 ABHD12 ADGRV1 AHI1 AIPL1 ALMS1
10 renal/urinary system MP:0005367 9.56 AHI1 ALMS1 BBS1 BBS10 BBS12 BBS2
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 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 2 347396-82-1 459903
2
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
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 Antioxidants Phase 2
14 Protective Agents Phase 2
15
Sodium citrate Approved, Investigational 68-04-2
16
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
17 Citrate
18 Gastrins
19 Insulin, Globin Zinc
20 insulin

Interventional clinical trials:

(show all 31)
# 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 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 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
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 Effects of Subtenon-injected Autologous Platelet-rich Plasma on Visual Functions in Eyes With Retinitis Pigmentosa Completed NCT04238858
17 One-Year Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6A or PDE6B Mutations Recruiting NCT04285398
18 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
19 Establishment of the National Registry for Inherited Retinal Dystrophy in Iran Recruiting NCT04131400
20 Objective Perimetry in Normal Subjects,Glaucoma Patients and Retinal Dystrophy Patients Recruiting NCT02014389
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 Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec Active, not recruiting NCT03597399
26 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
27 Natural History of the Progression of Choroideremia Study Active, not recruiting NCT03359551
28 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
29 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Terminated NCT03561922
30 Novel Quantification Methods for Fundus Flavoprotein Fluorescence and Lipofuscin Fluorescence to Detect Progression in Stargardt Disease Terminated NCT01676766
31 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, 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 1500)
# Title Authors PMID Year
1
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. 61
31630094 2020
2
Gene editing prospects for treating inherited retinal diseases. 61
31857428 2020
3
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease. 61
32533651 2020
4
Deciphering the natural history of SCA7 in children. 61
32558018 2020
5
The Architecture of GluD2 Ionotropic Delta Glutamate Receptor Elucidated by cryo-EM. 61
32512155 2020
6
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. 61
32533067 2020
7
Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy. 61
32535767 2020
8
Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis. 61
32507954 2020
9
Bull's eye maculopathy associated with hereditary hemochromatosis. 61
32258826 2020
10
Defining renal phenotype in Alström syndrome. 61
30307515 2020
11
A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. 61
31342828 2020
12
Phenotypic variance in Calpain-5 retinal degeneration. 61
32274441 2020
13
CRB1 related retinal degeneration with novel mutation. 61
32322752 2020
14
Associations between adult attachment and vision-related quality of life in visually impaired individuals. 61
32508123 2020
15
Late presentation of RPE65 retinopathy in three siblings. 61
31925606 2020
16
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate. 61
32467599 2020
17
Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations. 61
32375900 2020
18
Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa. 61
32298085 2020
19
Retinoschisin and Cardiac Glycoside Crosstalk at the Retinal Na/K-ATPase. 61
32392309 2020
20
A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia. 61
32441177 2020
21
Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium. 61
30836785 2020
22
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan. 61
31872526 2020
23
Laser treatment in retinitis pigmentosa-a review. 61
32435907 2020
24
Generation of a human induced pluripotent stem cell line, BRCi005-A, derived from a Best disease patient with BEST1 mutations. 61
32416576 2020
25
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings. 61
32441891 2020
26
Functional Difficulties of Patients Seeking Low Vision Services in South India. 61
32371739 2020
27
Senior-Løken syndrome and intracranial hypertension. 61
32432520 2020
28
NGLY1 deficiency-A rare congenital disorder of deglycosylation. 61
32395402 2020
29
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. 61
32361989 2020
30
Pentosan polysulfate maculopathy versus inherited macular dystrophies: comparative assessment with multimodal imaging. 61
32446908 2020
31
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation. 61
32312818 2020
32
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy. 61
32445700 2020
33
Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies. 61
32036094 2020
34
Autoimmune retinopathy associated with monoclonal gammopathy of undetermined significance: a case report. 61
32299429 2020
35
Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-up. 61
32306756 2020
36
Optical Coherence Tomography Analysis of Cystoid Macular Edema in Retinal Dystrophy Treated with Oral Acetazolamide: Two Cases. 61
32092772 2020
37
Retinal Structure in RPE65-Associated Retinal Dystrophy. 61
32347917 2020
38
Fundus autofluorescence, spectral-domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model. 61
31989709 2020
39
Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. 61
31470097 2020
40
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study. 61
31734136 2020
41
(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
42
RPE65 and retinal dystrophy: Report of new and recurrent mutations. 61
31957135 2020
43
Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74. 61
32144365 2020
44
Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants. 61
32244552 2020
45
A case of pentosan polysulfate maculopathy originally diagnosed as stargardt disease. 61
32043016 2020
46
Generation of a human induced pluripotent stem cell line from a patient with Leber congenital amaurosis. 61
32036247 2020
47
Retinal Organoids derived from hiPSCs of an AIPL1-LCA Patient Maintain Cytoarchitecture despite Reduced levels of Mutant AIPL1. 61
32214115 2020
48
Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy. 61
32151065 2020
49
Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy. 61
32079136 2020
50
Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy. 61
31079053 2020
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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 3043) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IQCB1 NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)duplication Pathogenic 403963 rs745340459 3:121514389-121514390 3:121795542-121795543
2 BBS10 NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)SNV Pathogenic 417949 rs375413604 12:76740088-76740088 12:76346308-76346308
3 USH2A NM_206933.3(USH2A):c.12152_12153insTT (p.Glu4051fs)insertion Pathogenic 418537 rs1064793289 1:215853632-215853633 1:215680290-215680291
4 PDE6B NM_000283.3(PDE6B):c.1860del (p.His620fs)deletion Pathogenic 419959 rs769671323 4:656916-656916 4:663127-663127
5 CNGB3 NM_019098.4(CNGB3):c.1781+1G>CSNV Pathogenic 427709 rs1375507464 8:87616320-87616320 8:86604092-86604092
6 CNGB3 NM_019098.4(CNGB3):c.1579-2A>GSNV Pathogenic 427705 rs772725807 8:87623901-87623901 8:86611673-86611673
7 CNGB3 NM_019098.4(CNGB3):c.1432C>T (p.Arg478Ter)SNV Pathogenic 427692 rs201320564 8:87641195-87641195 8:86628967-86628967
8 USH2A NM_206933.3(USH2A):c.11389+3A>TSNV Pathogenic 427867 rs753886165 1:215931934-215931934 1:215758592-215758592
9 CFAP410 NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro)SNV Pathogenic 428573 rs140451304 21:45753071-45753071 21:44333188-44333188
10 CFAP410 NM_004928.3(CFAP410):c.331G>A (p.Val111Met)SNV Pathogenic 428582 rs555164150 21:45752958-45752958 21:44333075-44333075
11 CRB1 NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)SNV Pathogenic 438073 rs145282040 1:197396584-197396584 1:197427454-197427454
12 CRB1 NM_201253.3(CRB1):c.3542dup (p.Cys1181fs)duplication Pathogenic 438079 rs1553263218 1:197404534-197404535 1:197435404-197435405
13 USH2A NM_206933.3(USH2A):c.13576C>T (p.Arg4526Ter)SNV Pathogenic 438014 rs1003869920 1:215847677-215847677 1:215674335-215674335
14 USH2A NM_206933.3(USH2A):c.9571-2A>GSNV Pathogenic 438033 rs751111524 1:215987248-215987248 1:215813906-215813906
15 USH2A NM_206933.3(USH2A):c.4222C>T (p.Gln1408Ter)SNV Pathogenic 438021 rs746551311 1:216369924-216369924 1:216196582-216196582
16 USH2A NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)SNV Pathogenic 438002 rs780308389 1:216498735-216498735 1:216325393-216325393
17 ABCA4 NM_000350.3(ABCA4):c.5196+1137G>ASNV Pathogenic 438100 rs778234759 1:94484001-94484001 1:94018445-94018445
18 ABCA4 NM_000350.3(ABCA4):c.4537del (p.Gln1513fs)deletion Pathogenic 438096 rs281865377 1:94495003-94495003 1:94029447-94029447
19 ABCA4 NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter)SNV Pathogenic 438088 rs1553192726 1:94528871-94528871 1:94063315-94063315
20 ABCA4 NM_000350.3(ABCA4):c.885del (p.Leu296fs)deletion Pathogenic 438109 rs764759172 1:94546248-94546248 1:94080692-94080692
21 PCARE NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)SNV Pathogenic 438048 rs367658438 2:29294126-29294126 2:29071260-29071260
22 PCARE NM_001029883.3(PCARE):c.758G>A (p.Trp253Ter)SNV Pathogenic 438049 rs750987123 2:29296370-29296370 2:29073504-29073504
23 IMPG2 NM_016247.4(IMPG2):c.3023-6_3030dupduplication Pathogenic 437941 rs754995805 3:100951827-100951828 3:101232983-101232984
24 IMPG2 NM_016247.4(IMPG2):c.1680T>A (p.Tyr560Ter)SNV Pathogenic 437938 rs758291149 3:100963495-100963495 3:101244651-101244651
25 PROM1 NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)SNV Pathogenic 438215 rs373331232 4:16025003-16025003 4:16023380-16023380
26 PROM1 NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)SNV Pathogenic 438214 rs780697796 4:16035000-16035000 4:16033377-16033377
27 PDE6A NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)SNV Pathogenic 437982 rs144484128 5:149274844-149274844 5:149895281-149895281
28 PDE6A NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)SNV Pathogenic 437984 rs146591309 5:149310680-149310680 5:149931117-149931117
29 ADGRV1 NM_032119.4(ADGRV1):c.12798T>A (p.Tyr4266Ter)SNV Pathogenic 438168 rs777309662 5:90074375-90074375 5:90778558-90778558
30 PRPH2 NM_000322.5(PRPH2):c.259_266del (p.Asp87fs)deletion Pathogenic 437964 rs1554270834 6:42689807-42689814 6:42722069-42722076
31 EYS NM_001142800.2(EYS):c.5928-2A>GSNV Pathogenic 438200 rs181169439 6:65098735-65098735 6:64388842-64388842
32 EYS NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)SNV Pathogenic 438194 rs760798455 6:65622398-65622398 6:64912505-64912505
33 LCA5 NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)SNV Pathogenic 438153 rs866395428 6:80203350-80203350 6:79493633-79493633
34 TOPORS NM_005802.5(TOPORS):c.2552_2553GA[2] (p.Glu852fs)short repeat Pathogenic 438066 rs527236116 9:32541966-32541967 9:32541968-32541969
35 CDHR1 NM_033100.4(CDHR1):c.1463del (p.Gly488fs)deletion Pathogenic 438116 rs756678484 10:85970895-85970895 10:84211139-84211139
36 RGR NM_001012720.2(RGR):c.*74dupduplication Pathogenic 438065 rs1554824273 10:86018468-86018469 10:84258712-84258713
37 MFRP NM_031433.4(MFRP):c.955C>T (p.Gln319Ter)SNV Pathogenic 438224 rs1555037395 11:119215045-119215045 11:119344335-119344335
38 BEST1 NM_004183.4(BEST1):c.-37+1G>TSNV Pathogenic 438184 rs1555096248 11:61717900-61717900 11:61950428-61950428
39 CABP4 NM_145200.4(CABP4):c.673C>T (p.Arg225Ter)SNV Pathogenic 438047 rs531851447 11:67225863-67225863 11:67458392-67458392
40 NR2E3 NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu)SNV Pathogenic 438229 rs377257254 15:72105748-72105748 15:71813408-71813408
41 CNGB1 NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs)duplication Pathogenic 437975 rs756806434 16:57931400-57931401 16:57897496-57897497
42 CNGB1 NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter)SNV Pathogenic 437971 rs1352458826 16:57950065-57950065 16:57916161-57916161
43 ABHD12 NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter)SNV Pathogenic 438130 rs758316679 20:25319986-25319986 20:25339350-25339350
44 RPGR NM_000328.3(RPGR):c.1905+414AG[2]short repeat Pathogenic 438144 rs1555961832 X:38145928-38145929 X:38286675-38286676
45 RPGR NM_000328.3(RPGR):c.1905+331_1905+332delshort repeat Pathogenic 438142 rs1555961852 X:38146015-38146016 X:38286762-38286763
46 RP2 NM_006915.3(RP2):c.352C>T (p.Arg118Cys)SNV Pathogenic 437944 rs1556318633 X:46713160-46713160 X:46853725-46853725
47 CFAP410 NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs)insertion Pathogenic 438159 rs748531024 21:45759044-45759045 21:44339161-44339162
48 IFT140 NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)SNV Pathogenic 446314 rs758052634 16:1630833-1630833 16:1580832-1580832
49 ABCA4 NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)SNV Pathogenic 488674 rs765429911 1:94574256-94574256 1:94108700-94108700
50 CACNA1F NM_001256789.3(CACNA1F):c.1504C>T (p.Arg502Ter)SNV Pathogenic 497205 rs1365490247 X:49082518-49082518 X:49226056-49226056
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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
 12.38 CC2D2A BBS9 BBS7 BBS5 BBS2 BBS12
2
Cargo trafficking to the periciliary membrane 65
Show member pathways
 11.2 BBS9 BBS7 BBS5 BBS2 BBS12 BBS10
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GO Terms for Inherited Retinal Disorder

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10.01 CC2D2A BBS9 BBS7 BBS5 BBS2 BBS1
2 microtubule organizing center GO:0005815 9.85 BBS9 BBS7 BBS5 BBS2 BBS1 ALMS1
3 ciliary basal body GO:0036064 9.72 BBS7 BBS5 BBS2 BBS1 AHI1
4 ciliary membrane GO:0060170 9.65 BBS9 BBS7 BBS5 BBS2 BBS1
5 cilium GO:0005929 9.65 CC2D2A BBS9 BBS7 BBS5 BBS2 BBS12
6 photoreceptor outer segment GO:0001750 9.63 CACNA1F BBS7 ABCA4
7 stereocilium GO:0032420 9.61 CDH23 BBS2 ADGRV1
8 BBSome GO:0034464 9.55 BBS9 BBS7 BBS5 BBS2 BBS1
9 MKS complex GO:0036038 9.48 CC2D2A AHI1
10 cell projection GO:0042995 9.44 CC2D2A CABP4 C1QTNF5 BBS9 BBS7 BBS5

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.93 BBS9 BBS7 BBS5 BBS2 BBS1
2 cilium assembly GO:0060271 9.87 CC2D2A BBS9 BBS7 BBS5 BBS2 BBS1
3 cell projection organization GO:0030030 9.8 CC2D2A BBS9 BBS7 BBS5 BBS2 BBS1
4 non-motile cilium assembly GO:1905515 9.77 CC2D2A BBS7 BBS2 BBS10 BBS1
5 response to stimulus GO:0050896 9.77 NYX CDH23 CACNA1F BEST1 BBS9 BBS7
6 photoreceptor cell maintenance GO:0045494 9.7 CDH23 BBS2 BBS12 BBS10 BBS1 ADGRV1
7 ciliary basal body-plasma membrane docking GO:0097711 9.69 CC2D2A ALMS1 AHI1
8 fat cell differentiation GO:0045444 9.65 BBS9 BBS7 BBS2
9 heart looping GO:0001947 9.61 BBS7 BBS5 AHI1
10 melanosome transport GO:0032402 9.58 BBS7 BBS5 BBS2
11 inner ear receptor cell stereocilium organization GO:0060122 9.57 CDH23 ADGRV1
12 motile cilium assembly GO:0044458 9.56 CC2D2A BBS5
13 chaperone-mediated protein complex assembly GO:0051131 9.55 BBS12 BBS10
14 detection of light stimulus involved in visual perception GO:0050908 9.52 CACNA1F BEST1
15 sensory perception of light stimulus GO:0050953 9.49 CDH23 ADGRV1
16 visual perception GO:0007601 9.47 NYX CDH23 CACNA1F CABP4 BEST1 BBS9
17 phototransduction, visible light GO:0007603 9.46 AIPL1 ABCA4

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 9.02 BBS7 BBS5 BBS2 BBS10 BBS1
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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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