MCID: HRD016
MIFTS: 32

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 73
Hereditary Retinal Dystrophies 55

Classifications:



External Ids:

Disease Ontology 12 DOID:8500
ICD10 33 H35.5 H35.50
ICD9CM 35 362.7 362.70
NCIt 50 C35194
UMLS 73 C0154860

Summaries for Hereditary Retinal Dystrophy

MalaCards based summary : Hereditary Retinal Dystrophy, also known as hereditary retinal dystrophies, is related to severe early-childhood-onset retinal dystrophy and leber congenital amaurosis 3. 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, testes and bone, and related phenotypes are nervous 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 164)
# Related Disease Score Top Affiliating Genes
1 severe early-childhood-onset retinal dystrophy 29.8 LCA5 SPATA7
2 leber congenital amaurosis 3 29.8 LCA5 SPATA7
3 leber congenital amaurosis 12 29.6 CEP290 GUCY2D
4 leber congenital amaurosis 9 29.4 GUCY2D LCA5
5 cone-rod dystrophy 2 29.2 GUCY2D RHO
6 retinal disease 27.6 CEP290 GUCY2D RHO RS1
7 leber congenital amaurosis 26.9 CEP290 GUCY2D LCA5 RHO SPATA7
8 fundus dystrophy 26.5 CEP290 GUCY2D LCA5 RHO RS1 SPATA7
9 retinitis pigmentosa 26.0 CEP290 GUCY2D LCA5 RHO RS1 SPATA7
10 sorsby fundus dystrophy 11.3
11 retinitis 10.3
12 usher syndrome, type i 10.2
13 usher syndrome, type iiia 10.2
14 norrie disease 10.2
15 usher syndrome type 2 10.2
16 doyne honeycomb retinal dystrophy 10.0
17 basal laminar drusen 10.0
18 macular dystrophy, retinal, 1, north carolina type 10.0
19 fundus albipunctatus 10.0
20 wagner vitreoretinopathy 10.0
21 macular dystrophy, vitelliform, 2 10.0
22 macular dystrophy, concentric annular 10.0
23 macular dystrophy, dominant cystoid 10.0
24 pigmented paravenous chorioretinal atrophy 10.0
25 reticular dystrophy of retinal pigment epithelium 10.0
26 retinitis pigmentosa 1 10.0
27 retinitis pigmentosa 9 10.0
28 retinitis pigmentosa 10 10.0
29 retinopathy, pericentral pigmentary, dominant 10.0
30 vitreoretinochoroidopathy 10.0
31 vitreoretinal degeneration, snowflake type 10.0
32 leber congenital amaurosis 1 10.0
33 leber congenital amaurosis 2 10.0
34 amaurosis congenita, cone-rod type, with congenital hypertrichosis 10.0
35 jalili syndrome 10.0
36 fleck retina, familial benign 10.0
37 fleck retina of kandori 10.0
38 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 10.0
39 retinitis pigmentosa, late-adult onset 10.0
40 retinopathy, pericentral pigmentary, autosomal recessive 10.0
41 enhanced s-cone syndrome 10.0
42 usher syndrome, type iia 10.0
43 usher syndrome, type ic 10.0
44 retinitis pigmentosa 3 10.0
45 retinitis pigmentosa 24 10.0
46 retinitis pigmentosa 23 10.0
47 chromosome xp11.3 deletion syndrome 10.0
48 aland island eye disease 10.0
49 retinitis pigmentosa 34 10.0
50 retinitis pigmentosa 2 10.0

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 nervous system MP:0003631 9.63 RS1 SPATA7 CEP290 GUCY2D LCA5 RHO
2 pigmentation MP:0001186 9.26 CEP290 LCA5 RHO RS1
3 vision/eye MP:0005391 9.1 CEP290 GUCY2D LCA5 RHO RS1 SPATA7

Drugs & Therapeutics for Hereditary Retinal Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stem Cell Ophthalmology Treatment Study II Recruiting NCT03011541 Not Applicable
2 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:

41
Eye, Testes, Bone, Retina

Publications for Hereditary Retinal Dystrophy

Articles related to Hereditary Retinal Dystrophy:

(show all 14)
# Title Authors Year
1
Hereditary Retinal Dystrophy. ( 28035529 )
2016
2
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. ( 25082885 )
2014
3
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
4
Intravitreal injection of autologous bone marrow-derived mononuclear cells for hereditary retinal dystrophy: a phase I trial. ( 21293313 )
2011
5
Immune response to retinal antigens in patients with gyrate atrophy and other hereditary retinal dystrophies. ( 11449323 )
2001
6
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
7
Analysis of the oligosaccharide chains of rhodopsin from normal rats and those with hereditary retinal dystrophy. ( 8944546 )
1996
8
Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy. A morphological study. ( 7851218 )
1994
9
Early abnormalities of retinal dopamine pathways in rats with hereditary retinal dystrophy. ( 7813383 )
1994
10
In vivo response of the rat's retinal pigment epithelium to azide at advanced stages of hereditary retinal dystrophy. ( 8230852 )
1993
11
Effects of sunflower seed supplements on reproduction and growth of RCS rats with hereditary retinal dystrophy. ( 7341855 )
1981
12
The slow ERG potentials in hereditary retinal dystrophy of albino and pigmented rats. ( 1278260 )
1976
13
Hereditary retinal dystrophy in the rat: lipid composition of debris. ( 1269538 )
1976
14
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
Show member pathways
11.15 GUCY2D RHO
2 10.6 GUCY2D RHO

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 ciliary basal body GO:0036064 9.26 CEP290 SPATA7
2 cell projection GO:0042995 9.26 CEP290 LCA5 RHO SPATA7
3 photoreceptor connecting cilium GO:0032391 9.16 CEP290 SPATA7
4 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 photoreceptor cell maintenance GO:0045494 9.26 RHO SPATA7
2 response to stimulus GO:0050896 9.26 GUCY2D RHO RS1 SPATA7
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 GUCY2D RHO
4 visual perception GO:0007601 8.92 GUCY2D RHO RS1 SPATA7

Sources for Hereditary Retinal Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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