MCID: FND002
MIFTS: 55

Fundus Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Fundus Dystrophy

MalaCards integrated aliases for Fundus Dystrophy:

Name: Fundus Dystrophy 12 15
Retinal Dystrophy 12 29 6
Retinal Dystrophies 44 70
Dystrophy, Retinal 39

Classifications:



External Ids:

Disease Ontology 12 DOID:8501
MeSH 44 D058499
NCIt 50 C35625
SNOMED-CT 67 314407005
UMLS 70 C0854723

Summaries for Fundus Dystrophy

MalaCards based summary : Fundus Dystrophy, also known as retinal dystrophy, is related to cone-rod dystrophy 2 and senior-loken syndrome 1. An important gene associated with Fundus Dystrophy is TIMP3 (TIMP Metallopeptidase Inhibitor 3), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. The drugs Pharmaceutical Solutions and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and bone marrow, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Fundus Dystrophy

Diseases related to Fundus Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 583)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 35.3 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
2 senior-loken syndrome 1 34.3 USH2A TULP1 RPGR RPE65 RHO RDH12
3 hereditary retinal dystrophy 34.2 USH2A TIMP3 RPE65 RHO PRPH2 MERTK
4 achromatopsia 34.2 USH2A TULP1 RPGR RPE65 RHO RDH12
5 doyne honeycomb retinal dystrophy 33.9 TIMP3 PRPH2 BEST1 ABCA4
6 leber plus disease 33.9 USH2A TULP1 RPGR RPE65 RLBP1 RHO
7 joubert syndrome 1 33.7 TULP1 RPGR RPE65 RHO RDH12 GUCY2D
8 fundus albipunctatus 33.7 TULP1 RPGR RPE65 RLBP1 RHO RDH12
9 stargardt disease 1 33.7 TULP1 RHO PRPH2 EYS CRX CRB1
10 retinoschisis 1, x-linked, juvenile 33.7 USH2A RPGR RPE65 RHO NR2E3 MERTK
11 late-onset retinal degeneration 33.6 USH2A TIMP3 RPGR RPE65 RLBP1 RHO
12 stargardt disease 33.6 USH2A TULP1 RPGR RPE65 RLBP1 RHO
13 macular degeneration, age-related, 1 33.4 USH2A TIMP3 RPGR RPE65 RLBP1 RHO
14 usher syndrome 33.4 USH2A TULP1 RPGR RPE65 RLBP1 RHO
15 choroideremia 33.4 USH2A RPGR RPE65 RHO PRPH2 MERTK
16 leber congenital amaurosis 10 33.3 TULP1 RPGR RPE65 RDH12 GUCY2D CRX
17 macular dystrophy, dominant cystoid 33.3 USH2A TULP1 RPGR RPE65 RHO NR2E3
18 leber congenital amaurosis 3 33.2 TULP1 RPE65 RDH12 GUCY2D CRX CRB1
19 leber congenital amaurosis 4 33.2 TULP1 RPE65 RDH12 GUCY2D CRX CRB1
20 leber congenital amaurosis 14 33.1 RDH12 AIPL1
21 cone-rod dystrophy 6 33.1 RPGR RPE65 PRPH2 GUCY2D GUCA1A BEST1
22 vitreoretinochoroidopathy 33.0 RPE65 PRPH2 BEST1 ABCA4
23 retinal disease 33.0 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
24 retinitis pigmentosa 33.0 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
25 bestrophinopathy, autosomal recessive 33.0 RPE65 RLBP1 PRPH2 CRB1 BEST1 ABCA4
26 bietti crystalline corneoretinal dystrophy 32.9 RPGR RPE65 EYS ABCA4
27 retinal degeneration 32.9 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
28 enhanced s-cone syndrome 32.9 RPGR RPE65 RHO NR2E3 CRX
29 leber congenital amaurosis / early-onset severe retinal dystrophy 32.8 RPE65 CEP290 AIPL1
30 leber congenital amaurosis 13 32.8 TULP1 RDH12 CEP290 AIPL1
31 retinitis pigmentosa 25 32.8 RPGR PRPH2 EYS CRB1
32 retinitis pigmentosa 7 32.7 TULP1 RPGR PRPH2 GUCA1A
33 retinitis pigmentosa 1 32.7 RHO PRPH2 NR2E3 CRX
34 retinitis pigmentosa 20 32.7 RPGR RPE65 EYS
35 leber congenital amaurosis 2 32.7 TULP1 RPGR RPE65 RHO RDH12 MERTK
36 bardet-biedl syndrome 32.7 USH2A TULP1 RPGR RPE65 RHO RDH12
37 congenital stationary night blindness 32.7 USH2A TULP1 RPGR RPE65 RLBP1 RHO
38 retinitis pigmentosa 38 32.6 TULP1 RPE65 MERTK
39 pathologic nystagmus 32.6 TULP1 RPGR RPE65 RHO RDH12 GUCY2D
40 leber congenital amaurosis 15 32.6 TULP1 RDH12 AIPL1
41 cone-rod dystrophy 3 32.6 GUCY2D CRX ABCA4
42 night blindness 32.6 USH2A TIMP3 RPGR RPE65 RLBP1 RHO
43 usher syndrome type 2 32.6 USH2A TULP1 RPGR RPE65 RHO PRPH2
44 newfoundland rod-cone dystrophy 32.6 RLBP1 RHO PRPH2
45 leber congenital amaurosis 1 32.5 TULP1 RPE65 RHO RDH12 PRPH2 MERTK
46 cone dystrophy 32.5 USH2A TULP1 RPGR RPE65 RLBP1 RHO
47 cone-rod dystrophy 12 32.5 GUCY2D GUCA1A AIPL1
48 joubert syndrome 9 32.5 RPE65 CEP290
49 retinitis pigmentosa 35 32.4 RPGR RDH12
50 retinitis pigmentosa 50 32.4 EYS BEST1

Graphical network of the top 20 diseases related to Fundus Dystrophy:



Diseases related to Fundus Dystrophy

Symptoms & Phenotypes for Fundus Dystrophy

GenomeRNAi Phenotypes related to Fundus Dystrophy according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.09 GUCY2D MERTK
2 Decreased viability GR00055-A-2 10.09 GUCY2D MERTK
3 Decreased viability GR00221-A-1 10.09 GUCY2D MERTK
4 Decreased viability GR00221-A-2 10.09 GUCY2D
5 Decreased viability GR00221-A-3 10.09 GUCY2D
6 Decreased viability GR00221-A-4 10.09 GUCY2D MERTK
7 Decreased viability GR00240-S-1 10.09 GUCY2D
8 Decreased viability GR00249-S 10.09 CRX EYS GUCY2D PRPH2 TIMP3
9 Decreased viability GR00381-A-1 10.09 GUCA1A RLBP1
10 Decreased viability GR00386-A-1 10.09 CRX GUCA1A GUCY2D PRPH2
11 Decreased viability GR00402-S-2 10.09 BEST1 GUCY2D PRPH2 RDH12 RHO
12 Increased the percentage of infected cells GR00402-S-1 8.32 RDH12

MGI Mouse Phenotypes related to Fundus Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 AIPL1 CEP290 CRB1 CRX GUCA1A
2 cardiovascular system MP:0005385 9.96 ABCA4 CEP290 CRB1 CRX MERTK PRPH2
3 pigmentation MP:0001186 9.77 ABCA4 BEST1 CEP290 CRB1 CRX MERTK
4 vision/eye MP:0005391 9.6 ABCA4 AIPL1 BEST1 CEP290 CRB1 CRX

Drugs & Therapeutics for Fundus Dystrophy

Drugs for Fundus Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
3
Ranibizumab Approved Phase 2 347396-82-1 459903
4
Brinzolamide Approved Phase 2 138890-62-7 68844
5
Minocycline Approved, Investigational Phase 2 10118-90-8 5281021
6
Metformin Approved Phase 1, Phase 2 657-24-9 4091 14219
7 Angiogenesis Inhibitors Phase 2
8 Carbonic Anhydrase Inhibitors Phase 2
9 Anti-Bacterial Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Hypoglycemic Agents Phase 1, Phase 2
12
acetic acid Approved Phase 1 64-19-7 176
13
Vitamin A Approved, Nutraceutical, Vet_approved Phase 1 68-26-8, 11103-57-4 445354
14 Nutrients Phase 1
15 Trace Elements Phase 1
16 retinol Phase 1
17 Retinol palmitate Phase 1
18 Micronutrients Phase 1
19 Vitamins Phase 1
20
Retinol acetate Phase 1 127-47-9 10245972
21 Adjuvants, Immunologic Phase 1
22 Immunologic Factors Phase 1
23 Protective Agents Phase 1

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Brolucizumab-dbll (BEOVU®) Intravitreal Injection in the Treatment of Dystrophy-related Macular Neovascular Degeneration Recruiting NCT04690062 Phase 4 Brolucizumab-Dbll
2 Management of Retinitis Pigmentosa by Wharton's Jelly Derived Mesenchymal Stem Cells: Preliminary Clinical Results Completed NCT04224207 Phase 3
3 An Open-label, Single-arm Study to Provide Efficacy and Safety Data of Voretigene Neparvovec Administered as Subretinal Injection in Japanese Patients With Biallelic RPE65 Mutation-associated Retinal Dystrophy Recruiting NCT04516369 Phase 3
4 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
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 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
7 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
8 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
9 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
10 The Efficacy and Safety of Oral Minocycline in the Treatment of Retinitis Pigmentosa: An Open-label Clinical Trial Recruiting NCT04068207 Phase 2 Minocycline
11 Oral Metformin for Treatment of ABCA4 Retinopathy Recruiting NCT04545736 Phase 1, Phase 2 Metformin hydrochloride
12 A Phase 1, Open Label, Repeat Dose Study to Investigate the Safety and Pharmacokinetics of 4-week Daily Dosing of ALK-001 in Healthy Volunteers Completed NCT02230228 Phase 1 ALK-001 (No generic name)
13 Observational, Follow-up Study of Adaptive Optics Retinal Imaging in Controls and During Retinal or General Diseases Unknown status NCT01546181
14 Performance of Optimized Long-wavelength Fundus Autofluorescence Imaging in Patients With Retinal Diseases Unknown status NCT03592017
15 Combined Coaxial Optical Coherence Tomography System to Image the Retina and Choroidal Structures and Estimate Tissue Reflectivity in Healthy and Diseased Retinas Unknown status NCT03843840
16 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
17 Optical Head-Mounted Display Technology for Low Vision Rehabilitation Completed NCT02983305
18 Study on the Effects of Mutations Under Inherited Retinal Disease in Korean Completed NCT03613948
19 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
20 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
21 Compensation for Blindness With the Intelligent Retinal Implant System (IRIS V2) in Patients With Retinal Dystrophy Completed NCT02670980
22 A Randomised Crossover Study to Assess the Usability of Two New Vision Tests in Patients With Low Vision, and Relationship of the Measures to Daily Living Tasks. Completed NCT01876147
23 VIsual Cerebral ConnecTivity On Functional Magnetic Resonance Imaging in Patients With Hereditary REtinal Dystrophies Recruiting NCT04648124
24 Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD Recruiting NCT03662386
25 iPS Cells of Patients for Models of Retinal Dystrophies Recruiting NCT03853252
26 Multi-center Observation of the Natural Course of Inherited Retinal Dystrophies Recruiting NCT03691168
27 Objective Perimetry in Normal Subjects,Glaucoma Patients and Retinal Dystrophy Patients Recruiting NCT02014389
28 Establishment of the National Registry for Inherited Retinal Dystrophy in Iran Recruiting NCT04131400
29 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
30 Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR) Recruiting NCT03349242
31 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
32 A Post-Authorization, Multicenter, Longitudinal, Observational Safety Registry Study for Patients Treated With Voretigene Neparvovec in US Active, not recruiting NCT03597399
33 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867
34 Functional Study of Intronic Variants in Inherited Cone Disorders Not yet recruiting NCT04658251
35 Impact on Daily Life of Patients Using the Subretinal Implant RETINA IMPLANT Alpha AMS Terminated NCT03561922

Search NIH Clinical Center for Fundus Dystrophy

Cochrane evidence based reviews: retinal dystrophies

Genetic Tests for Fundus Dystrophy

Genetic tests related to Fundus Dystrophy:

# Genetic test Affiliating Genes
1 Retinal Dystrophy 29

Anatomical Context for Fundus Dystrophy

MalaCards organs/tissues related to Fundus Dystrophy:

40
Retina, Eye, Bone Marrow, Bone, Endothelial, Pituitary, Brain

Publications for Fundus Dystrophy

Articles related to Fundus Dystrophy:

(show top 50) (show all 1748)
# Title Authors PMID Year
1
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 6 61
30718709 2019
2
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 61 6
25356976 2015
3
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. 6 61
23946133 2013
4
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 6 61
22025579 2011
5
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. 61 6
20087419 2010
6
A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. 61 6
18599565 2008
7
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 6 61
18055820 2007
8
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 61 6
15258582 2004
9
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 61 6
9326941 1997
10
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
11
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 6
26872967 2016
12
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. 6
26103963 2015
13
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 6
25412400 2015
14
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. 6
25307992 2015
15
Clinical and molecular characteristics of childhood-onset Stargardt disease. 6
25312043 2015
16
Genetic and clinical analysis of ABCA4-associated disease in African American patients. 6
25066811 2014
17
Prph2 mutations as a cause of electronegative ERG. 6
24608669 2014
18
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 6
24154662 2014
19
Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. 6
25333361 2014
20
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 6
23918662 2013
21
ABCA4 gene screening by next-generation sequencing in a British cohort. 6
23982839 2013
22
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. 6
23290749 2013
23
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. 6
22229821 2012
24
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. 6
22938382 2012
25
Next-generation genetic testing for retinitis pigmentosa. 6
22334370 2012
26
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. 6
21882291 2011
27
Analysis of the ABCA4 gene by next-generation sequencing. 6
21911583 2011
28
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. 6
20591486 2010
29
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. 6
20673862 2010
30
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 6
20398886 2010
31
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 6
19718270 2009
32
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 6
19479962 2009
33
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 6
18654668 2008
34
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration. 6
18978954 2008
35
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. 6
17405132 2007
36
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 6
17564967 2007
37
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 6
17033958 2006
38
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 6
15723066 2005
39
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 6
15614537 2005
40
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 6
14681825 2004
41
X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. 6
12657579 2003
42
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 6
12118255 2002
43
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 6
11594993 2001
44
Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. 6
11565546 2001
45
An analysis of allelic variation in the ABCA4 gene. 6
11328725 2001
46
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). 6
11379881 2001
47
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 6
10958763 2000
48
Genetic basis of total colourblindness among the Pingelapese islanders. 6
10888875 2000
49
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. 6
10775529 2000
50
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 6
10581022 1999

Variations for Fundus Dystrophy

ClinVar genetic disease variations for Fundus Dystrophy:

6 (show top 50) (show all 3049)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPGR NM_000328.3(RPGR):c.1905+23C>G SNV Pathogenic 224756 rs869312185 GRCh37: X:38146324-38146324
GRCh38: X:38287071-38287071
2 NR2E3 NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) SNV Pathogenic 438229 rs377257254 GRCh37: 15:72105748-72105748
GRCh38: 15:71813408-71813408
3 ABCA4 NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) SNV Pathogenic 99218 rs61752419 GRCh37: 1:94508342-94508342
GRCh38: 1:94042786-94042786
4 RPGR NM_000328.3(RPGR):c.1905+1042G>T SNV Pathogenic 560502 rs1569235803 GRCh37: X:38145305-38145305
GRCh38: X:38286052-38286052
5 PRPF31 NM_015629.4(PRPF31):c.636del (p.Met212fs) Deletion Pathogenic 865753 GRCh37: 19:54627236-54627236
GRCh38: 19:54123857-54123857
6 RGR NM_001012720.2(RGR):c.*74dup Duplication Pathogenic 438065 rs1554824273 GRCh37: 10:86018468-86018469
GRCh38: 10:84258712-84258713
7 ABCA4 NM_000350.3(ABCA4):c.6005+1G>A SNV Pathogenic 865769 GRCh37: 1:94473189-94473189
GRCh38: 1:94007633-94007633
8 RPGR NM_000328.3(RPGR):c.934+1G>A SNV Pathogenic 98812 rs62640592 GRCh37: X:38163887-38163887
GRCh38: X:38304634-38304634
9 CRX NM_000554.6(CRX):c.239A>G (p.Glu80Gly) SNV Pathogenic 865803 GRCh37: 19:48339638-48339638
GRCh38: 19:47836381-47836381
10 RPGR NM_000328.3(RPGR):c.934+1G>T SNV Pathogenic 865818 GRCh37: X:38163887-38163887
GRCh38: X:38304634-38304634
11 CDHR1 NM_033100.4(CDHR1):c.1485+2T>C SNV Pathogenic 847679 GRCh37: 10:85970923-85970923
GRCh38: 10:84211167-84211167
12 PRPH2 NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) SNV Pathogenic 191208 rs786205579 GRCh37: 6:42689576-42689576
GRCh38: 6:42721838-42721838
13 USH2A NM_206933.4(USH2A):c.98C>A (p.Ser33Ter) SNV Pathogenic 865905 GRCh37: 1:216595581-216595581
GRCh38: 1:216422239-216422239
14 ABCA4 NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val) SNV Pathogenic 865907 GRCh37: 1:94467505-94467505
GRCh38: 1:94001949-94001949
15 PRPF8 NM_006445.4(PRPF8):c.7000T>A (p.Tyr2334Asn) SNV Pathogenic 865924 GRCh37: 17:1554104-1554104
GRCh38: 17:1650810-1650810
16 USH2A NM_206933.4(USH2A):c.4384del (p.Thr1462fs) Deletion Pathogenic 865950 GRCh37: 1:216363577-216363577
GRCh38: 1:216190235-216190235
17 ABCA4 NM_000350.3(ABCA4):c.4668-2A>G SNV Pathogenic 865963 GRCh37: 1:94487509-94487509
GRCh38: 1:94021953-94021953
18 USH2A NM_206933.4(USH2A):c.7468del (p.Ser2490fs) Deletion Pathogenic 865988 GRCh37: 1:216073543-216073543
GRCh38: 1:215900201-215900201
19 RP1L1 NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter) SNV Pathogenic 865995 GRCh37: 8:10470419-10470419
GRCh38: 8:10612909-10612909
20 CDHR1 NM_033100.4(CDHR1):c.338del (p.Gly113fs) Deletion Pathogenic 37292 rs747425652 GRCh37: 10:85957581-85957581
GRCh38: 10:84197825-84197825
21 CDH3 NM_001793.6(CDH3):c.307C>T (p.Arg103Ter) SNV Pathogenic 866071 GRCh37: 16:68712097-68712097
GRCh38: 16:68678194-68678194
22 PRPF31 NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) SNV Pathogenic 865976 GRCh37: 19:54629942-54629942
GRCh38: 19:54126567-54126567
23 RHO NM_000539.3(RHO):c.341G>T (p.Gly114Val) SNV Pathogenic 866113 GRCh37: 3:129247917-129247917
GRCh38: 3:129529074-129529074
24 ABCA4 NM_000350.3(ABCA4):c.859-9T>C SNV Pathogenic 859348 GRCh37: 1:94546283-94546283
GRCh38: 1:94080727-94080727
25 CYGB , PRCD NM_001077620.3(PRCD):c.61_64del (p.Asn21fs) Deletion Pathogenic 866216 GRCh37: 17:74536282-74536285
GRCh38: 17:76540200-76540203
26 ABCA4 NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) SNV Pathogenic 99217 rs62645946 GRCh37: 1:94586570-94586570
GRCh38: 1:94121014-94121014
27 TIMP3 , SYN3 NM_003490.4(SYN3):c.711+62801G>C SNV Pathogenic 843268 GRCh37: 22:33198100-33198100
GRCh38: 22:32802114-32802114
28 RPGR NM_000328.3(RPGR):c.492G>A (p.Trp164Ter) SNV Pathogenic 98789 rs62638648 GRCh37: X:38176696-38176696
GRCh38: X:38317443-38317443
29 ABCA4 NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) SNV Pathogenic 99073 rs61748559 GRCh37: 1:94528713-94528713
GRCh38: 1:94063157-94063157
30 ABCA4 NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter) SNV Pathogenic 99117 rs61749425 GRCh37: 1:94526154-94526154
GRCh38: 1:94060598-94060598
31 KCNV2 NM_133497.4(KCNV2):c.529T>C (p.Cys177Arg) SNV Pathogenic 866393 GRCh37: 9:2718268-2718268
GRCh38: 9:2718268-2718268
32 RHO NM_000539.3(RHO):c.152G>T (p.Gly51Val) SNV Pathogenic 866399 GRCh37: 3:129247728-129247728
GRCh38: 3:129528885-129528885
33 PRPH2 NM_000322.5(PRPH2):c.774_775del (p.Tyr258_Ser259delinsTer) Deletion Pathogenic 866423 GRCh37: 6:42672156-42672157
GRCh38: 6:42704418-42704419
34 USH2A NM_206933.3(USH2A):c.11389+3A>T SNV Pathogenic 427867 rs753886165 GRCh37: 1:215931934-215931934
GRCh38: 1:215758592-215758592
35 IMPG2 NM_016247.4(IMPG2):c.379C>T (p.Arg127Ter) SNV Pathogenic 845633 GRCh37: 3:101023112-101023112
GRCh38: 3:101304268-101304268
36 ABCA4 NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter) SNV Pathogenic 861376 GRCh37: 1:94578596-94578596
GRCh38: 1:94113040-94113040
37 ABCA4 NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter) SNV Pathogenic 866511 GRCh37: 1:94526258-94526258
GRCh38: 1:94060702-94060702
38 COL2A1 NM_001844.5(COL2A1):c.1833+1G>A SNV Pathogenic 866602 GRCh37: 12:48378777-48378777
GRCh38: 12:47984994-47984994
39 RPGR NM_000328.3(RPGR):c.1345C>T (p.Arg449Ter) SNV Pathogenic 866558 GRCh37: X:38156606-38156606
GRCh38: X:38297353-38297353
40 RPGR NM_000328.3(RPGR):c.679C>T (p.Gln227Ter) SNV Pathogenic 866642 GRCh37: X:38169967-38169967
GRCh38: X:38310714-38310714
41 USH2A NM_206933.3(USH2A):c.14792-2A>G SNV Pathogenic 100610 rs137853923 GRCh37: 1:215814078-215814078
GRCh38: 1:215640736-215640736
42 PRPF31 NM_015629.4(PRPF31):c.330_333del (p.His111fs) Deletion Pathogenic 866645 GRCh37: 19:54625880-54625883
GRCh38: 19:54122501-54122504
43 PRPH2 NM_000322.5(PRPH2):c.578_579del (p.Lys193fs) Deletion Pathogenic 98680 rs62645929 GRCh37: 6:42689494-42689495
GRCh38: 6:42721756-42721757
44 CRX NM_000554.6(CRX):c.313C>T (p.Gln105Ter) SNV Pathogenic 866673 GRCh37: 19:48342637-48342637
GRCh38: 19:47839380-47839380
45 RPGR NM_000328.3(RPGR):c.485_486del (p.Phe162fs) Deletion Pathogenic 98787 rs281865297 GRCh37: X:38176702-38176703
GRCh38: X:38317449-38317450
46 RPGR NM_000328.3(RPGR):c.101del (p.Asn34fs) Deletion Pathogenic 98815 rs281865295 GRCh37: X:38182705-38182705
GRCh38: X:38323452-38323452
47 RPGR NM_000328.3(RPGR):c.1685_1686del (p.His562fs) Deletion Pathogenic 866755 GRCh37: X:38147181-38147182
GRCh38: X:38287928-38287929
48 ABCA4 NM_000350.3(ABCA4):c.3523-2A>G SNV Pathogenic 866764 GRCh37: 1:94505685-94505685
GRCh38: 1:94040129-94040129
49 RPGR NM_000328.3(RPGR):c.1377_1378del (p.Leu460fs) Deletion Pathogenic 98739 rs62653029 GRCh37: X:38156573-38156574
GRCh38: X:38297320-38297321
50 PEX1 NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro) SNV Pathogenic 217429 rs370483961 GRCh37: 7:92136369-92136369
GRCh38: 7:92507055-92507055

Expression for Fundus Dystrophy

Search GEO for disease gene expression data for Fundus Dystrophy.

Pathways for Fundus Dystrophy

GO Terms for Fundus Dystrophy

Cellular components related to Fundus Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.85 USH2A TULP1 RPGR RHO PRPH2 GUCY2D
2 photoreceptor disc membrane GO:0097381 9.56 RHO GUCY2D GUCA1A ABCA4
3 photoreceptor inner segment GO:0001917 9.56 USH2A TULP1 RHO RDH12 PRPH2 GUCA1A
4 photoreceptor outer segment membrane GO:0042622 9.37 RHO GUCY2D
5 photoreceptor inner segment membrane GO:0060342 9.32 RHO RDH12
6 photoreceptor outer segment GO:0001750 9.32 TULP1 RPGR RHO PRPH2 MERTK GUCY2D

Biological processes related to Fundus Dystrophy according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.89 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
2 retinoid metabolic process GO:0001523 9.8 RPE65 RLBP1 RHO RDH12 ABCA4
3 photoreceptor cell maintenance GO:0045494 9.8 USH2A TULP1 RHO RDH12 CRB1 ABCA4
4 retina development in camera-type eye GO:0060041 9.8 TULP1 RPE65 RHO PRPH2 NR2E3 MERTK
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.73 RHO GUCY2D GUCA1A AIPL1
6 retina homeostasis GO:0001895 9.67 TULP1 RPE65 AIPL1
7 eye photoreceptor cell development GO:0042462 9.67 TULP1 NR2E3 CRB1 CEP290
8 phototransduction GO:0007602 9.65 RHO NR2E3 GUCA1A
9 phototransduction, visible light GO:0007603 9.63 RHO AIPL1 ABCA4
10 detection of light stimulus involved in visual perception GO:0050908 9.63 TULP1 RPE65 PRPH2 EYS CRB1 BEST1
11 visual perception GO:0007601 9.58 USH2A TULP1 TIMP3 RPGR RPE65 RLBP1
12 cellular response to light stimulus GO:0071482 9.56 RHO CRB1
13 sensory perception of light stimulus GO:0050953 9.55 USH2A RHO
14 photoreceptor cell outer segment organization GO:0035845 9.54 PRPH2 CRB1
15 retina morphogenesis in camera-type eye GO:0060042 9.52 RPE65 CRB1
16 vitamin A metabolic process GO:0006776 9.51 RPE65 RLBP1

Molecular functions related to Fundus Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 11-cis retinal binding GO:0005502 8.62 RLBP1 RHO

Sources for Fundus Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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