MCID: HRD016
MIFTS: 33

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 74
Hereditary Retinal Dystrophies 56

Classifications:



External Ids:

Disease Ontology 12 DOID:8500
ICD9CM 36 362.7 362.70
NCIt 51 C35194
SNOMED-CT 69 41799005
ICD10 34 H35.5 H35.50
UMLS 74 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 leber congenital amaurosis 12. An important gene associated with Hereditary Retinal Dystrophy is RHO (Rhodopsin), and among its related pathways/superpathways is Cell adhesion_ECM remodeling. Affiliated tissues include retina, eye and bone, 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 165)
# Related Disease Score Top Affiliating Genes
1 sorsby fundus dystrophy 32.3 TIMP1 TIMP3
2 leber congenital amaurosis 12 30.1 CEP290 GUCY2D
3 cone-rod dystrophy 2 29.9 GUCY2D RHO TIMP3
4 leber congenital amaurosis 29.4 CEP290 GUCY2D RHO SPATA7
5 retinal disease 29.1 CEP290 GUCY2D RHO RS1
6 retinitis pigmentosa 28.4 CEP290 GUCY2D RHO RS1 SPATA7 TIMP1
7 fundus dystrophy 28.4 ATP6V1H CEP290 GUCY2D RHO RS1 SPATA7
8 usher syndrome, type i 10.4
9 usher syndrome, type iiia 10.4
10 doyne honeycomb retinal dystrophy 10.2
11 basal laminar drusen 10.2
12 macular dystrophy, retinal, 1, north carolina type 10.2
13 fundus albipunctatus 10.2
14 wagner vitreoretinopathy 10.2
15 macular dystrophy, vitelliform, 2 10.2
16 macular dystrophy, concentric annular 10.2
17 macular dystrophy, dominant cystoid 10.2
18 pigmented paravenous chorioretinal atrophy 10.2
19 reticular dystrophy of retinal pigment epithelium 10.2
20 retinitis pigmentosa 1 10.2
21 retinitis pigmentosa 9 10.2
22 retinitis pigmentosa 10 10.2
23 retinopathy, pericentral pigmentary, dominant 10.2
24 vitreoretinochoroidopathy 10.2
25 vitreoretinal degeneration, snowflake type 10.2
26 leber congenital amaurosis 1 10.2
27 leber congenital amaurosis 2 10.2
28 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.2
29 jalili syndrome 10.2
30 fleck retina, familial benign 10.2
31 fleck retina of kandori 10.2
32 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 10.2
33 retinitis pigmentosa, late-adult onset 10.2
34 retinopathy, pericentral pigmentary, autosomal recessive 10.2
35 enhanced s-cone syndrome 10.2
36 usher syndrome, type iia 10.2
37 usher syndrome, type ic 10.2
38 retinitis pigmentosa 3 10.2
39 retinitis pigmentosa 24 10.2
40 retinitis pigmentosa 23 10.2
41 chromosome xp11.3 deletion syndrome 10.2
42 aland island eye disease 10.2
43 retinitis pigmentosa 34 10.2
44 norrie disease 10.2
45 retinitis pigmentosa 2 10.2
46 retinitis pigmentosa 6 10.2
47 retinitis pigmentosa, y-linked 10.2
48 retinitis pigmentosa 13 10.2
49 retinitis pigmentosa 12 10.2
50 retinitis pigmentosa 14 10.2

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 CEP290 RHO RS1 TIMP3
2 vision/eye MP:0005391 9.1 CEP290 GUCY2D RHO RS1 SPATA7 TIMP3

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 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
3 Stem Cell Ophthalmology Treatment Study Enrolling by invitation NCT01920867 Not Applicable

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:

42
Retina, Eye, Bone, Testes, Cortex

Publications for Hereditary Retinal Dystrophy

Articles related to Hereditary Retinal Dystrophy:

(show all 27)
# Title Authors Year
1
Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies. ( 30416334 )
2018
2
Hereditary Retinal Dystrophy. ( 28035529 )
2017
3
Effectiveness and safety of nutritional supplements in the treatment of hereditary retinal dystrophies: a systematic review. ( 27935602 )
2017
4
Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies. ( 29326851 )
2017
5
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. ( 25082885 )
2014
6
Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology. ( 24791140 )
2014
7
Neural correlates of visual search in patients with hereditary retinal dystrophies. ( 22505353 )
2013
8
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. ( 23462753 )
2013
9
Treatment of cystic macular lesions in hereditary retinal dystrophies. ( 24160730 )
2013
10
Intravitreal injection of autologous bone marrow-derived mononuclear cells for hereditary retinal dystrophy: a phase I trial. ( 21293313 )
2011
11
Gray matter alterations in visual cortex of patients with loss of central vision due to hereditary retinal dystrophies. ( 21352929 )
2011
12
Spatial resolution and perception of patterns mediated by a subretinal 16-electrode array in patients blinded by hereditary retinal dystrophies. ( 21693599 )
2011
13
Characterization of feline hereditary retinal dystrophies using clinical, functional, structural and molecular genetic studies. ( 21923821 )
2011
14
Immune response to retinal antigens in patients with gyrate atrophy and other hereditary retinal dystrophies. ( 11449323 )
2001
15
Hereditary retinal dystrophies and choroidal neovascularization. ( 11045344 )
2000
16
Recent advances in the molecular genetics of hereditary retinal dystrophies with primary involvement of the macula. ( 9831752 )
1998
17
Inner retinal function in hereditary retinal dystrophies. ( 9831765 )
1998
18
Characterization of canine rod photoreceptor cGMP-gated cation channel alpha-subunit gene and exclusion of its involvement in the hereditary retinal dystrophy of Swedish Briards. ( 9427553 )
1997
19
Analysis of the oligosaccharide chains of rhodopsin from normal rats and those with hereditary retinal dystrophy. ( 8944546 )
1996
20
Early abnormalities of retinal dopamine pathways in rats with hereditary retinal dystrophy. ( 7813383 )
1994
21
Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy. A morphological study. ( 7851218 )
1994
22
In vivo response of the rat's retinal pigment epithelium to azide at advanced stages of hereditary retinal dystrophy. ( 8230852 )
1993
23
Effects of sunflower seed supplements on reproduction and growth of RCS rats with hereditary retinal dystrophy. ( 7341855 )
1981
24
Altered cyclic nucleotide metabolism and the pathogenesis of hereditary retinal dystrophies. ( 6250356 )
1980
25
Hereditary retinal dystrophy in the rat: lipid composition of debris. ( 1269538 )
1976
26
The slow ERG potentials in hereditary retinal dystrophy of albino and pigmented rats. ( 1278260 )
1976
27
Hereditary retinal dystrophy in the rat: rhodopsin, retinol, vitamin A deficiency. ( 1218544 )
1975

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 10.41 TIMP1 TIMP3

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 connecting cilium GO:0032391 8.96 CEP290 SPATA7
2 photoreceptor disc membrane GO:0097381 8.62 GUCY2D RHO

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

# Name GO ID Score Top Affiliating Genes
1 response to cytokine GO:0034097 9.4 TIMP1 TIMP3
2 response to hormone GO:0009725 9.37 TIMP1 TIMP3
3 response to stimulus GO:0050896 9.35 GUCY2D RHO RS1 SPATA7 TIMP3
4 photoreceptor cell maintenance GO:0045494 9.32 RHO SPATA7
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 GUCY2D RHO
6 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.16 TIMP1 TIMP3
7 visual perception GO:0007601 9.02 GUCY2D RHO RS1 SPATA7 TIMP3

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

# Name GO ID Score Top Affiliating Genes
1 enzyme inhibitor activity GO:0004857 8.96 TIMP1 TIMP3
2 metalloendopeptidase inhibitor activity GO:0008191 8.62 TIMP1 TIMP3

Sources for Hereditary Retinal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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