MCID: HRD016
MIFTS: 36

Hereditary Retinal Dystrophy

Categories: Eye diseases

Aliases & Classifications for Hereditary Retinal Dystrophy

MalaCards integrated aliases for Hereditary Retinal Dystrophy:

Name: Hereditary Retinal Dystrophy 12 15 72 33
Hereditary Retinal Dystrophies 55

Classifications:



External Ids:

Disease Ontology 12 DOID:8500
ICD9CM 35 362.7 362.70
NCIt 50 C35194
SNOMED-CT 68 41799005
ICD10 33 H35.5 H35.50
UMLS 72 C0154860

Summaries for Hereditary Retinal Dystrophy

MalaCards based summary : Hereditary Retinal Dystrophy, also known as hereditary retinal dystrophies, is related to sorsby fundus dystrophy and retinitis pigmentosa 19. An important gene associated with Hereditary Retinal Dystrophy is RHO (Rhodopsin), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include eye, retina and bone, and related phenotypes are homeostasis/metabolism and hematopoietic system

Related Diseases for Hereditary Retinal Dystrophy

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

(show top 50) (show all 199)
# Related Disease Score Top Affiliating Genes
1 sorsby fundus dystrophy 32.5 TIMP3 TIMP1
2 retinitis pigmentosa 19 31.2 RHO ABCA4
3 severe early-childhood-onset retinal dystrophy 30.7 RPE65 ABCA4
4 leber congenital amaurosis 9 30.6 RPE65 GUCY2D
5 leber congenital amaurosis 10 30.5 RPE65 CEP290
6 retinitis pigmentosa 38 30.5 RPE65 MERTK
7 stargardt disease 30.3 RPE65 RHO MERTK ABCA4
8 cone-rod dystrophy 2 30.3 TIMP3 RPE65 RHO GUCY2D ABCA4
9 leber congenital amaurosis 4 30.2 RPE65 GUCY2D
10 retinoschisis 1, x-linked, juvenile 30.0 RS1 RPE65
11 leber congenital amaurosis 12 30.0 RPE65 GUCY2D CEP290
12 fundus albipunctatus 29.9 RPE65 RHO
13 aland island eye disease 29.8 TIMP1 RPE65
14 retinal degeneration 29.1 RPE65 RHO GUCY2D CHM ABCA4
15 leber congenital amaurosis 29.0 RPE65 RHO MERTK GUCY2D CEP290 ABCA4
16 yemenite deaf-blind hypopigmentation syndrome 28.1 RPE65 RHO GUCY2D CHM CEP290 ABCA4
17 retinal disease 27.4 RS1 RPE65 RHO MERTK GUCY2D CEP290
18 retinitis pigmentosa 26.6 TIMP3 TIMP1 RS1 RPE65 RHO MERTK
19 fundus dystrophy 25.5 TIMP3 TIMP1 RS1 RPE65 RHO MERTK
20 doyne honeycomb retinal dystrophy 10.8
21 macular dystrophy, vitelliform, 2 10.8
22 leber congenital amaurosis 2 10.8
23 retinitis pigmentosa 28 10.8
24 pattern dystrophy 10.8
25 inherited retinal disorder 10.6
26 usher syndrome, type i 10.5
27 usher syndrome, type iiia 10.5
28 stargardt macular degeneration 10.5 RHO ABCA4
29 stargardt disease 1 10.4 RHO ABCA4
30 neuroretinitis 10.4
31 retinitis 10.4
32 choroidal dystrophy, central areolar, 1 10.4 TIMP3 GUCY2D
33 coats disease 10.3 RS1 RHO
34 basal laminar drusen 10.3
35 macular dystrophy, retinal, 1, north carolina type 10.3
36 wagner vitreoretinopathy 10.3
37 macular dystrophy, concentric annular 10.3
38 macular dystrophy, dominant cystoid 10.3
39 pigmented paravenous chorioretinal atrophy 10.3
40 reticular dystrophy of retinal pigment epithelium 10.3
41 retinitis pigmentosa 1 10.3
42 retinitis pigmentosa 9 10.3
43 retinitis pigmentosa 10 10.3
44 retinopathy, pericentral pigmentary, dominant 10.3
45 vitreoretinochoroidopathy 10.3
46 vitreoretinal degeneration, snowflake type 10.3
47 leber congenital amaurosis 1 10.3
48 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.3
49 jalili syndrome 10.3
50 fleck retina, familial benign 10.3

Graphical network of the top 20 diseases related to Hereditary Retinal Dystrophy:



Diseases related to Hereditary Retinal Dystrophy

Symptoms & Phenotypes for Hereditary Retinal Dystrophy

MGI Mouse Phenotypes related to Hereditary Retinal Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 ABCA4 ATP6V1H CEP290 CHM GUCY2D MERTK
2 hematopoietic system MP:0005397 9.97 ABCA4 ATP6V1H CEP290 MERTK RHO RPE65
3 cardiovascular system MP:0005385 9.95 ABCA4 CEP290 CHM MERTK RHO TIMP1
4 immune system MP:0005387 9.86 ABCA4 ATP6V1H CEP290 MERTK RHO RPE65
5 nervous system MP:0003631 9.76 ABCA4 CEP290 CHM GUCY2D MERTK RHO
6 pigmentation MP:0001186 9.56 ABCA4 CEP290 CHM MERTK RHO RPE65
7 vision/eye MP:0005391 9.28 ABCA4 CEP290 CHM GUCY2D MERTK RHO

Drugs & Therapeutics for Hereditary Retinal Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD Recruiting NCT03662386
2 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541
3 Bone Marrow Derived Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867

Search NIH Clinical Center for Hereditary Retinal Dystrophy

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Voretigene neparvovec

Genetic Tests for Hereditary Retinal Dystrophy

Anatomical Context for Hereditary Retinal Dystrophy

MalaCards organs/tissues related to Hereditary Retinal Dystrophy:

41
Eye, Retina, Bone, Testes, Brain, Liver, Cortex

Publications for Hereditary Retinal Dystrophy

Articles related to Hereditary Retinal Dystrophy:

(show top 50) (show all 144)
# Title Authors PMID Year
1
Analysis of the oligosaccharide chains of rhodopsin from normal rats and those with hereditary retinal dystrophy. 9 38
8944546 1996
2
Changes in microchip position after implantation of a subretinal vision prosthesis in humans. 38
30816625 2019
3
Targeted next generation sequencing identified novel loss-of-function mutations in MERTK gene in Chinese patients with retinitis pigmentosa. 38
30790467 2019
4
[Multimodal diagnostic of CSNB1 with NYX gene mutation]. 38
30980176 2019
5
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. 38
30101608 2019
6
Identification of the retinoschisin-binding site on the retinal Na/K-ATPase. 38
31048931 2019
7
Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis. 38
30040949 2018
8
[Imaging and molecular genetic diagnostics for the characterization of retinal dystrophies]. 38
30259088 2018
9
Revolution in Gene Medicine Therapy and Genome Surgery. 38
30486314 2018
10
[Multimodal imaging in Goldmann-Favre syndrome]. 38
29234872 2018
11
Visual Evoked Potential Recovery by Subretinal Implantation of Photoelectric Dye-Coupled Thin Film Retinal Prosthesis in Monkey Eyes With Macular Degeneration. 38
29633282 2018
12
Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis. 38
29674172 2018
13
Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa. 38
29345014 2018
14
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives. 38
29097191 2018
15
The Evaluation of BMI1 Posttranslational Modifications During Retinal Degeneration to Understand BMI1 Action on Photoreceptor Death Execution. 38
29721964 2018
16
Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies. 38
30416334 2018
17
Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies. 38
29326851 2017
18
Assessment of Spectral-Domain Optical Coherence Tomography Findings in Three Cases of X-Linked Juvenile Retinoschisis in the Same Family. 38
29109902 2017
19
Structure-function correlations in Retinitis Pigmentosa patients with partially preserved vision: a voxel-based morphometry study. 38
28900214 2017
20
Is there evidence that the yearly numbers of children newly certified with sight impairment in England and Wales has increased between 1999/2000 and 2014/2015? A cross-sectional study. 38
28864701 2017
21
Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. 38
28615319 2017
22
[Ophthalmological rehabilitation of visually impaired children]. 38
27832328 2017
23
Visual evoked potential in RCS rats with Okayama University-type retinal prosthesis (OUReP™) implantation. 38
28181076 2017
24
The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina. 38
27995734 2017
25
fMRI with Central Vision Loss: Effects of Fixation Locus and Stimulus Type. 38
28099241 2017
26
Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review. 38
27935602 2017
27
Hereditary Retinal Dystrophy. 38
28035529 2017
28
Gene panel sequencing in Brazilian patients with retinitis pigmentosa. 38
28912962 2017
29
Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34. 38
28723922 2017
30
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. 38
28966547 2017
31
An Alternative and Validated Injection Method for Accessing the Subretinal Space via a Transcleral Posterior Approach. 38
28060316 2016
32
[Hereditary Macular Dystrophies]. 38
27385259 2016
33
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands. 38
27375279 2016
34
Lecithin:Retinol Acyltransferase: A Key Enzyme Involved in the Retinoid (visual) Cycle. 38
27183166 2016
35
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases. 38
27014590 2016
36
Structural brain MRI studies in eye diseases: are they clinically relevant? A review of current findings. 38
26361248 2016
37
Combining Zebrafish and Mouse Models to Test the Function of Deubiquitinating Enzyme (Dubs) Genes in Development: Role of USP45 in the Retina. 38
27613029 2016
38
Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. 38
26202106 2015
39
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells. 38
26325627 2015
40
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. 38
25910913 2015
41
Lysosomal membrane permeabilization and autophagy blockade contribute to photoreceptor cell death in a mouse model of retinitis pigmentosa. 38
25501597 2015
42
Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene. 38
25684977 2015
43
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. 38
26097748 2015
44
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. 38
25999675 2015
45
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis. 38
26161775 2015
46
Ocular Effects of Niacin: A Review of the Literature. 38
26060832 2015
47
Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations. 38
24912600 2014
48
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 38
25082885 2014
49
[Specific gene therapy for hereditary retinal dystrophies - an update]. 38
24327302 2014
50
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 38
23591405 2014

Variations for Hereditary Retinal Dystrophy

Expression for Hereditary Retinal Dystrophy

Search GEO for disease gene expression data for Hereditary Retinal Dystrophy.

Pathways for Hereditary Retinal Dystrophy

GO Terms for Hereditary Retinal Dystrophy

Cellular components related to Hereditary Retinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.13 RHO MERTK ABCA4
2 photoreceptor disc membrane GO:0097381 8.8 RHO GUCY2D ABCA4

Biological processes related to Hereditary Retinal Dystrophy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.5 TIMP3 RS1 RPE65 RHO GUCY2D CHM
2 response to hormone GO:0009725 9.49 TIMP3 TIMP1
3 response to cytokine GO:0034097 9.48 TIMP3 TIMP1
4 photoreceptor cell maintenance GO:0045494 9.46 RHO ABCA4
5 response to light stimulus GO:0009416 9.43 RPE65 RHO
6 retina development in camera-type eye GO:0060041 9.43 RPE65 RHO MERTK
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.4 RHO GUCY2D
8 phototransduction, visible light GO:0007603 9.37 RHO ABCA4
9 retinoid metabolic process GO:0001523 9.33 RPE65 RHO ABCA4
10 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.32 TIMP3 TIMP1
11 visual perception GO:0007601 9.17 TIMP3 RS1 RPE65 RHO GUCY2D CHM

Molecular functions related to Hereditary Retinal Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylserine binding GO:0001786 9.16 RS1 RPE65
2 enzyme inhibitor activity GO:0004857 8.96 TIMP3 TIMP1
3 metalloendopeptidase inhibitor activity GO:0008191 8.62 TIMP3 TIMP1

Sources for Hereditary Retinal Dystrophy

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
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