MCID: HRD016
MIFTS: 34

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 50 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 vitreoretinochoroidopathy. An important gene associated with Hereditary Retinal Dystrophy is RHO (Rhodopsin), and among its related pathways/superpathways are Ion channel transport and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, retina and bone marrow, and related phenotypes are pigmentation and vision/eye

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 229)
# Related Disease Score Top Affiliating Genes
1 sorsby fundus dystrophy 31.6 TYW1B TIMP3 TIMP1 RHO CRYAA CFHR2
2 vitreoretinochoroidopathy 31.3 RPE65 PRPH2 ELOVL4 BEST4 BEST3 BEST2
3 pattern dystrophy 30.8 RHO PRPH2 CRX
4 macular dystrophy, vitelliform, 2 30.7 PRPH2 BEST1
5 basal laminar drusen 30.6 BEST1 ABCA4
6 retinitis pigmentosa 50 30.6 EYS BEST1
7 retinitis pigmentosa 32 30.6 EYS ABCA4
8 occult macular dystrophy 30.5 RHO PRPH2 ABCA4
9 macular dystrophy, vitelliform, 3 30.5 PRPH2 BEST1
10 macular dystrophy, concentric annular 30.5 CRX ABCA4
11 retinitis pigmentosa 19 30.5 ELOVL4 ABCA4
12 pigmented paravenous chorioretinal atrophy 30.4 CRB1 ABCA4
13 cone-rod dystrophy 6 30.4 RPE65 PRPH2 BEST1 ABCA4
14 leber congenital amaurosis 7 30.4 CRX CRB1
15 retinitis pigmentosa 29 30.3 EYS CRYAA CNGA1
16 leber congenital amaurosis 9 30.3 RPE65 CRX CRB1
17 leber congenital amaurosis 8 30.3 RPE65 CRX CRB1
18 leber congenital amaurosis 10 30.3 RPE65 CRX CRB1
19 usher syndrome, type iia 30.3 USH2A EYS ABCA4
20 leber congenital amaurosis 4 30.3 RPE65 CRX CRB1
21 doyne honeycomb retinal dystrophy 30.3 TIMP3 PRPH2 ELOVL4 CRYAA CFHR2 BEST1
22 gyrate atrophy of choroid and retina 30.2 RPE65 RHO PRPH2 CFHR2 BEST1 ABCA4
23 microvascular complications of diabetes 5 30.2 TIMP3 RHO CRYAA
24 leber congenital amaurosis 6 30.2 CRX CRB1
25 retinitis pigmentosa 25 30.2 PRPH2 EYS ELOVL4 CRB1
26 usher syndrome, type i 30.2 USH2A RPE65 RHO EYS CRX
27 leber congenital amaurosis 3 30.2 RPE65 CRYAA CRX CRB1
28 leber congenital amaurosis 2 30.2 RPE65 RHO MERTK CRYAA CRX CRB1
29 enhanced s-cone syndrome 30.1 RPE65 RHO CRX CNGA1
30 yemenite deaf-blind hypopigmentation syndrome 30.1 USH2A RPE65 RHO ABCA4
31 usher syndrome, type iiia 30.0 USH2A RPE65 MERTK CRB1 CNGA1
32 retinitis pigmentosa 1 30.0 RHO PRPH2 CRYAA CRX CNGA1
33 macular dystrophy, dominant cystoid 29.9 USH2A RPE65 RHO CRYAA CRB1 BEST1
34 retinitis 29.8 USH2A RPE65 RHO PRPH2 MERTK EYS
35 scotoma 29.8 USH2A RPE65 RHO EYS CRB1 ABCA4
36 usher syndrome type 2 29.7 USH2A RPE65 RHO PRPH2 EYS CRB1
37 bestrophinopathy, autosomal recessive 29.7 RPE65 PRPH2 CRB1 BEST4 BEST3 BEST2
38 choroideremia 29.5 USH2A RPE65 RHO PRPH2 MERTK BEST1
39 leber congenital amaurosis 1 29.5 RPE65 RHO PRPH2 MERTK CRX CRB1
40 night blindness 29.4 USH2A TIMP3 RPE65 RHO PRPH2 CRB1
41 fundus albipunctatus 29.4 RPE65 RHO PRPH2 EYS ELOVL4 CRX
42 late-onset retinal degeneration 29.3 USH2A TIMP3 RPE65 RHO PRPH2 ELOVL4
43 retinal degeneration 29.2 USH2A RPE65 RHO PRPH2 MERTK ELOVL4
44 stargardt disease 29.2 USH2A RPE65 RHO PRPH2 MERTK EYS
45 retinoschisis 1, x-linked, juvenile 29.2 USH2A RPE65 RHO MERTK CRX CRB1
46 cone-rod dystrophy 2 28.8 USH2A TIMP3 RPE65 RHO PRPH2 MERTK
47 usher syndrome 28.7 USH2A RPE65 RHO PRPH2 MERTK EYS
48 retinitis pigmentosa 28.6 USH2A TIMP3 TIMP1 RPE65 RHO PRPH2
49 achromatopsia 28.5 USH2A RPE65 RHO PRPH2 MERTK EYS
50 leber plus disease 28.4 USH2A RPE65 RHO PRPH2 MERTK EYS

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 pigmentation MP:0001186 9.65 ABCA4 BEST1 CRB1 CRX ELOVL4 MERTK
2 vision/eye MP:0005391 9.4 ABCA4 BEST1 BEST2 CRB1 CRX 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 VIsual Cerebral ConnecTivity On Functional Magnetic Resonance Imaging in Patients With Hereditary REtinal Dystrophies Not yet recruiting NCT04648124

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 Marrow, Cortex

Publications for Hereditary Retinal Dystrophy

Articles related to Hereditary Retinal Dystrophy:

(show top 50) (show all 148)
# 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
Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing. 61
32680768 2020
4
Mammalian Retinal Cell Quantification. 61
33380270 2020
5
Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa. 61
32705276 2020
6
[Subspeciality training in rare ophthalmological clinical diseases exemplified by hereditary retinal dystrophies]. 61
32647982 2020
7
Changes in retinal layer thickness with maturation in the dog: an in vivo spectral domain - optical coherence tomography imaging study. 61
32605619 2020
8
[New possibilities in the treatment of Stargardt disease]. 61
32880159 2020
9
[Multimodal diagnostic of CSNB1 with NYX gene mutation]. 61
30980176 2019
10
Changes in microchip position after implantation of a subretinal vision prosthesis in humans. 61
30816625 2019
11
Targeted next generation sequencing identified novel loss-of-function mutations in MERTK gene in Chinese patients with retinitis pigmentosa. 61
30790467 2019
12
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. 61
30101608 2019
13
Identification of the retinoschisin-binding site on the retinal Na/K-ATPase. 61
31048931 2019
14
Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis. 61
30040949 2018
15
[Imaging and molecular genetic diagnostics for the characterization of retinal dystrophies]. 61
30259088 2018
16
Revolution in Gene Medicine Therapy and Genome Surgery. 61
30486314 2018
17
[Multimodal imaging in Goldmann-Favre syndrome]. 61
29234872 2018
18
Visual Evoked Potential Recovery by Subretinal Implantation of Photoelectric Dye-Coupled Thin Film Retinal Prosthesis in Monkey Eyes With Macular Degeneration. 61
29633282 2018
19
Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis. 61
29674172 2018
20
Concise Review: Human Induced Pluripotent Stem Cell Models of Retinitis Pigmentosa. 61
29345014 2018
21
Molecular genetics and emerging therapies for retinitis pigmentosa: Basic research and clinical perspectives. 61
29097191 2018
22
Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies. 61
30416334 2018
23
The Evaluation of BMI1 Posttranslational Modifications During Retinal Degeneration to Understand BMI1 Action on Photoreceptor Death Execution. 61
29721964 2018
24
Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies. 61
29326851 2017
25
Assessment of Spectral-Domain Optical Coherence Tomography Findings in Three Cases of X-Linked Juvenile Retinoschisis in the Same Family. 61
29109902 2017
26
Structure-function correlations in Retinitis Pigmentosa patients with partially preserved vision: a voxel-based morphometry study. 61
28900214 2017
27
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
28
Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. 61
28615319 2017
29
[Ophthalmological rehabilitation of visually impaired children]. 61
27832328 2017
30
Visual evoked potential in RCS rats with Okayama University-type retinal prosthesis (OUReP™) implantation. 61
28181076 2017
31
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
32
fMRI with Central Vision Loss: Effects of Fixation Locus and Stimulus Type. 61
28099241 2017
33
Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review. 61
27935602 2017
34
Hereditary Retinal Dystrophy. 61
28035529 2017
35
Gene panel sequencing in Brazilian patients with retinitis pigmentosa. 61
28912962 2017
36
Temporal progression of PARP activity in the Prph2 mutant rd2 mouse: Neuroprotective effects of the PARP inhibitor PJ34. 61
28723922 2017
37
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis. 61
28966547 2017
38
An Alternative and Validated Injection Method for Accessing the Subretinal Space via a Transcleral Posterior Approach. 61
28060316 2016
39
[Hereditary Macular Dystrophies]. 61
27385259 2016
40
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands. 61
27375279 2016
41
Lecithin:Retinol Acyltransferase: A Key Enzyme Involved in the Retinoid (visual) Cycle. 61
27183166 2016
42
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases. 61
27014590 2016
43
Structural brain MRI studies in eye diseases: are they clinically relevant? A review of current findings. 61
26361248 2016
44
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
45
Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene. 61
26202106 2015
46
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells. 61
26325627 2015
47
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. 61
25910913 2015
48
Lysosomal membrane permeabilization and autophagy blockade contribute to photoreceptor cell death in a mouse model of retinitis pigmentosa. 61
25501597 2015
49
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
50
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. 61
26097748 2015

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 integral component of membrane GO:0016021 10.07 USH2A TYW1B RHO PRPH2 MERTK ELOVL4
2 photoreceptor inner segment GO:0001917 9.46 USH2A RHO PRPH2 CRB1
3 photoreceptor disc membrane GO:0097381 9.37 RHO ABCA4
4 photoreceptor outer segment membrane GO:0042622 9.32 RHO CNGA1
5 chloride channel complex GO:0034707 9.26 BEST4 BEST3 BEST2 BEST1
6 photoreceptor outer segment GO:0001750 9.17 RHO PRPH2 MERTK EYS CRB1 CNGA1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.96 CNGA1 BEST4 BEST3 BEST2 BEST1
2 chloride transmembrane transport GO:1902476 9.71 BEST4 BEST3 BEST2 BEST1
3 response to stimulus GO:0050896 9.7 USH2A TIMP3 RPE65 RHO PRPH2 EYS
4 chloride transport GO:0006821 9.67 BEST4 BEST3 BEST2 BEST1
5 retina development in camera-type eye GO:0060041 9.65 RPE65 RHO PRPH2 MERTK CRB1
6 photoreceptor cell maintenance GO:0045494 9.62 USH2A RHO CRB1 ABCA4
7 retinoid metabolic process GO:0001523 9.61 RPE65 RHO ABCA4
8 cellular response to light stimulus GO:0071482 9.55 RHO CRB1
9 detection of light stimulus involved in visual perception GO:0050908 9.55 RPE65 PRPH2 EYS CRB1 BEST1
10 sensory perception of light stimulus GO:0050953 9.54 USH2A RHO
11 photoreceptor cell outer segment organization GO:0035845 9.52 PRPH2 CRB1
12 retina morphogenesis in camera-type eye GO:0060042 9.51 RPE65 CRB1
13 rhodopsin mediated signaling pathway GO:0016056 9.49 RHO CNGA1
14 phototransduction, visible light GO:0007603 9.48 RHO ABCA4
15 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.46 TIMP3 TIMP1
16 visual perception GO:0007601 9.4 USH2A TIMP3 RPE65 RHO PRPH2 EYS

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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....