MCID: HRD016
MIFTS: 35

Hereditary Retinal Dystrophy

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Hereditary Retinal Dystrophy

MalaCards integrated aliases for Hereditary Retinal Dystrophy:

Name: Hereditary Retinal Dystrophy 12 15 71 32
Hereditary Retinal Dystrophies 54

Classifications:



External Ids:

Disease Ontology 12 DOID:8500
ICD9CM 34 362.7
NCIt 49 C35194
SNOMED-CT 67 41799005
ICD10 32 H35.5
UMLS 71 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 pattern dystrophy. An important gene associated with Hereditary Retinal Dystrophy is RHO (Rhodopsin), and among its related pathways/superpathways are Ion channel transport and the visual cycle I (vertebrates). Affiliated tissues include eye, retina and bone, and related phenotypes are hematopoietic system and pigmentation

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 222)
# Related Disease Score Top Affiliating Genes
1 sorsby fundus dystrophy 32.2 TYW1B TIMP3 TIMP1 DCAF8 CRYAA CFHR2
2 pattern dystrophy 31.9 RHO PRPH2
3 vitreoretinochoroidopathy 31.4 RPE65 PRPH2 IMPG2 ELOVL4 BEST4 BEST3
4 leber congenital amaurosis 2 31.2 RPE65 RHO MERTK CRYAA CRB1
5 retinitis pigmentosa 1 31.1 RHO PRPH2 CRYAA
6 retinitis pigmentosa 19 31.0 PRPH2 ELOVL4 ABCA4
7 doyne honeycomb retinal dystrophy 31.0 TIMP3 PRPH2 ELOVL4 CRYAA CFHR2 BEST1
8 leber congenital amaurosis 8 31.0 RPE65 CRB1
9 leber congenital amaurosis 3 30.9 RPE65 CRYAA CRB1
10 retinitis pigmentosa 32 30.9 IMPG2 ABCA4
11 pigmented paravenous chorioretinal atrophy 30.9 CRB1 ABCA4
12 cone-rod dystrophy 2 30.9 USH2A TIMP3 RPE65 RHO PRPH2 CRYAA
13 macular dystrophy, vitelliform, 3 30.9 PRPH2 IMPG2 BEST1
14 basal laminar drusen 30.9 IMPG2 BEST1 ABCA4
15 occult macular dystrophy 30.8 PRPH2 IMPG2 ABCA4
16 usher syndrome type 2 30.8 USH2A RPE65 RHO ABCA4
17 leber congenital amaurosis 9 30.7 RPE65 CRB1
18 usher syndrome, type iiia 30.7 USH2A RPE65 MERTK CRB1
19 leber congenital amaurosis 4 30.7 RPE65 PRPH2 MERTK CRB1
20 leber congenital amaurosis 1 30.5 RPE65 RHO PRPH2 MERTK CRB1
21 leber congenital amaurosis 10 30.4 RPE65 CRB1
22 gyrate atrophy of choroid and retina 30.3 RPE65 RHO PRPH2 CFHR2 ABCA4
23 usher syndrome 30.2 USH2A RPE65 RHO PRPH2 CRB1 ABCA4
24 fundus albipunctatus 30.2 RPE65 RHO PRPH2 ELOVL4 CRB1 BEST1
25 cone-rod dystrophy 6 30.2 RPE65 PRPH2 IMPG2 CRB1 BEST1 ABCA4
26 microvascular complications of diabetes 5 30.2 TIMP3 RHO CRYAA
27 yemenite deaf-blind hypopigmentation syndrome 30.1 USH2A RPE65 RHO CRB1 ABCA4
28 scotoma 30.1 RPE65 RHO CRB1 ABCA4
29 macular dystrophy, dominant cystoid 30.1 USH2A RPE65 PRPH2 CRYAA CRB1 BEST1
30 retinitis 30.0 USH2A RPE65 RHO PRPH2 MERTK CRB1
31 retinoschisis 1, x-linked, juvenile 29.9 RPE65 RHO MERTK CRB1 BEST1 ABCA4
32 stargardt disease 29.8 USH2A RPE65 RHO PRPH2 MERTK IMPG2
33 choroideremia 29.7 USH2A RPE65 RHO MERTK ABCA4
34 night blindness 29.7 USH2A TIMP3 RPE65 RHO PRPH2 ABCA4
35 leber plus disease 29.5 USH2A RPE65 RHO PRPH2 MERTK IMPG2
36 late-onset retinal degeneration 29.5 USH2A RPE65 RHO PRPH2 ELOVL4 CRB1
37 bestrophinopathy, autosomal recessive 29.5 RPE65 PRPH2 IMPG2 CRB1 BEST4 BEST3
38 vitelliform macular dystrophy 29.3 TIMP3 RPE65 PRPH2 IMPG2 ELOVL4 BEST4
39 inherited retinal disorder 29.2 USH2A TIMP3 RPE65 RHO PRPH2 MERTK
40 cataract 29.2 TIMP1 RHO CRYAA BMP4 BEST1
41 achromatopsia 29.1 USH2A RPE65 RHO PRPH2 MERTK CRYAA
42 retinitis pigmentosa 28.8 USH2A TIMP3 TIMP1 RPE65 RHO PRPH2
43 retinal degeneration 28.6 USH2A TIMP3 RPE65 RHO PRPH2 MERTK
44 retinal disease 28.0 USH2A TIMP3 RPE65 RHO PRPH2 MERTK
45 fundus dystrophy 27.1 USH2A TYW1B TIMP3 TIMP1 RPE65 RHO
46 macular dystrophy, vitelliform, 2 10.8
47 enhanced s-cone syndrome 10.8
48 retinitis pigmentosa 28 10.8
49 usher syndrome, type i 10.5
50 interval angle-closure glaucoma 10.4 BEST1 ABCA4

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.9 ABCA4 BMP4 CRB1 DCAF8 ELOVL4 MERTK
2 pigmentation MP:0001186 9.61 ABCA4 BEST1 CRB1 ELOVL4 MERTK PRPH2
3 vision/eye MP:0005391 9.4 ABCA4 BEST1 BEST2 BMP4 CRB1 ELOVL4

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
4 Etude génétique Des Dilatations Des Bronches Idiopathiques en Polynésie française Not yet recruiting NCT04417777

Search NIH Clinical Center for Hereditary Retinal Dystrophy

Genetic Tests for Hereditary Retinal Dystrophy

Anatomical Context for Hereditary Retinal Dystrophy

MalaCards organs/tissues related to Hereditary Retinal Dystrophy:

40
Eye, Retina, Bone, Testes, Brain, Cortex, Liver

Publications for Hereditary Retinal Dystrophy

Articles related to Hereditary Retinal Dystrophy:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Analysis of the oligosaccharide chains of rhodopsin from normal rats and those with hereditary retinal dystrophy. 61 54
8944546 1996
2
Pentosan polysulfate maculopathy versus inherited macular dystrophies: comparative assessment with multimodal imaging. 61
32446908 2020
3
[Multimodal diagnostic of CSNB1 with NYX gene mutation]. 61
30980176 2019
4
Changes in microchip position after implantation of a subretinal vision prosthesis in humans. 61
30816625 2019
5
Targeted next generation sequencing identified novel loss-of-function mutations in MERTK gene in Chinese patients with retinitis pigmentosa. 61
30790467 2019
6
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. 61
30101608 2019
7
Identification of the retinoschisin-binding site on the retinal Na/K-ATPase. 61
31048931 2019
8
Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis. 61
30040949 2018
9
[Imaging and molecular genetic diagnostics for the characterization of retinal dystrophies]. 61
30259088 2018
10
Revolution in Gene Medicine Therapy and Genome Surgery. 61
30486314 2018
11
[Multimodal imaging in Goldmann-Favre syndrome]. 61
29234872 2018
12
Visual Evoked Potential Recovery by Subretinal Implantation of Photoelectric Dye-Coupled Thin Film Retinal Prosthesis in Monkey Eyes With Macular Degeneration. 61
29633282 2018
13
Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis. 61
29674172 2018
14
Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa. 61
29345014 2018
15
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives. 61
29097191 2018
16
Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies. 61
30416334 2018
17
The Evaluation of BMI1 Posttranslational Modifications During Retinal Degeneration to Understand BMI1 Action on Photoreceptor Death Execution. 61
29721964 2018
18
Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies. 61
29326851 2017
19
Assessment of Spectral-Domain Optical Coherence Tomography Findings in Three Cases of X-Linked Juvenile Retinoschisis in the Same Family. 61
29109902 2017
20
Structure-function correlations in Retinitis Pigmentosa patients with partially preserved vision: a voxel-based morphometry study. 61
28900214 2017
21
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. 61
28864701 2017
22
Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. 61
28615319 2017
23
[Ophthalmological rehabilitation of visually impaired children]. 61
27832328 2017
24
Visual evoked potential in RCS rats with Okayama University-type retinal prosthesis (OUReP™) implantation. 61
28181076 2017
25
The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina. 61
27995734 2017
26
fMRI with Central Vision Loss: Effects of Fixation Locus and Stimulus Type. 61
28099241 2017
27
Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review. 61
27935602 2017
28
Hereditary Retinal Dystrophy. 61
28035529 2017
29
Gene panel sequencing in Brazilian patients with retinitis pigmentosa. 61
28912962 2017
30
Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34. 61
28723922 2017
31
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. 61
28966547 2017
32
An Alternative and Validated Injection Method for Accessing the Subretinal Space via a Transcleral Posterior Approach. 61
28060316 2016
33
[Hereditary Macular Dystrophies]. 61
27385259 2016
34
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands. 61
27375279 2016
35
Lecithin:Retinol Acyltransferase: A Key Enzyme Involved in the Retinoid (visual) Cycle. 61
27183166 2016
36
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases. 61
27014590 2016
37
Structural brain MRI studies in eye diseases: are they clinically relevant? A review of current findings. 61
26361248 2016
38
Combining Zebrafish and Mouse Models to Test the Function of Deubiquitinating Enzyme (Dubs) Genes in Development: Role of USP45 in the Retina. 61
27613029 2016
39
Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. 61
26202106 2015
40
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells. 61
26325627 2015
41
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. 61
25910913 2015
42
Lysosomal membrane permeabilization and autophagy blockade contribute to photoreceptor cell death in a mouse model of retinitis pigmentosa. 61
25501597 2015
43
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. 61
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. 61
25999675 2015
45
Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene. 61
25684977 2015
46
Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis. 61
26161775 2015
47
Ocular Effects of Niacin: A Review of the Literature. 61
26060832 2015
48
Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations. 61
24912600 2014
49
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 61
25082885 2014
50
[Specific gene therapy for hereditary retinal dystrophies - an update]. 61
24327302 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

Pathways related to Hereditary Retinal Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.95 BEST4 BEST3 BEST2 BEST1
2
Show member pathways
10.54 RPE65 RHO ABCA4
3 10.26 TIMP3 TIMP1 MERTK IMPG2 BMP4

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 integral component of membrane GO:0016021 10.07 USH2A TYW1B RHO PRPH2 MERTK IMPG2
2 basement membrane GO:0005604 9.5 USH2A TIMP3 TIMP1
3 photoreceptor outer segment GO:0001750 9.46 RHO PRPH2 MERTK ABCA4
4 photoreceptor disc membrane GO:0097381 9.37 RHO ABCA4
5 photoreceptor inner segment GO:0001917 9.26 USH2A RHO PRPH2 CRB1
6 chloride channel complex GO:0034707 8.92 BEST4 BEST3 BEST2 BEST1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.76 USH2A TIMP3 RPE65 RHO PRPH2 CRYAA
2 chloride transmembrane transport GO:1902476 9.71 BEST4 BEST3 BEST2 BEST1
3 retinoid metabolic process GO:0001523 9.63 RPE65 RHO ABCA4
4 chloride transport GO:0006821 9.62 BEST4 BEST3 BEST2 BEST1
5 photoreceptor cell maintenance GO:0045494 9.56 USH2A RHO CRB1 ABCA4
6 cellular response to light stimulus GO:0071482 9.54 RHO CRB1
7 detection of light stimulus involved in visual perception GO:0050908 9.54 RPE65 CRB1 BEST1
8 sensory perception of light stimulus GO:0050953 9.52 USH2A RHO
9 retina morphogenesis in camera-type eye GO:0060042 9.51 RPE65 CRB1
10 phototransduction, visible light GO:0007603 9.49 RHO ABCA4
11 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.48 TIMP3 TIMP1
12 inner ear receptor cell differentiation GO:0060113 9.43 USH2A BMP4
13 retina development in camera-type eye GO:0060041 9.35 RPE65 RHO PRPH2 MERTK CRB1
14 visual perception GO:0007601 9.32 USH2A TIMP3 RPE65 RHO PRPH2 IMPG2

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

# Name GO ID Score Top Affiliating Genes
1 metalloendopeptidase inhibitor activity GO:0008191 9.16 TIMP3 TIMP1
2 G protein-coupled photoreceptor activity GO:0008020 8.96 RHO ELOVL4
3 chloride channel activity GO:0005254 8.92 BEST4 BEST3 BEST2 BEST1

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 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
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