MCID: RTN032
MIFTS: 22

Retinal Cone Dystrophy 1

Categories: Rare diseases

Aliases & Classifications for Retinal Cone Dystrophy 1

MalaCards integrated aliases for Retinal Cone Dystrophy 1:

Name: Retinal Cone Dystrophy 1 57 53 73
Retinal Cone Dystrophy-1 57 13
Rcd1 57 53
Cone Dystrophy, Autosomal Dominant 57
Cone Dystrophy Autosomal Dominant 53
Retinal Cone Degeneration 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (?6q25-q26)


HPO:

32
retinal cone dystrophy 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Retinal Cone Dystrophy 1

MalaCards based summary : Retinal Cone Dystrophy 1, also known as retinal cone dystrophy-1, is related to cone dystrophy 3 and cone dystrophy. An important gene associated with Retinal Cone Dystrophy 1 is RCD1 (Retinal Cone Dystrophy 1). The drugs Etoposide and Mitoxantrone have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are abnormal electroretinogram and progressive visual loss

Description from OMIM: 180020

Related Diseases for Retinal Cone Dystrophy 1

Diseases related to Retinal Cone Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone dystrophy 3 10.9
2 cone dystrophy 9.9
3 retinitis pigmentosa 9.9
4 leber congenital amaurosis 4 9.9
5 retinitis 9.9
6 retinal degeneration 9.9

Graphical network of the top 20 diseases related to Retinal Cone Dystrophy 1:



Diseases related to Retinal Cone Dystrophy 1

Symptoms & Phenotypes for Retinal Cone Dystrophy 1

Symptoms via clinical synopsis from OMIM:

57
Eyes:
diffuse retinal cone degeneration
progressive visual acuity loss
photophobia
defective color vision
bull's eye macular lesion

Lab:
distinctive electroretinogram


Clinical features from OMIM:

180020

Human phenotypes related to Retinal Cone Dystrophy 1:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 abnormal electroretinogram 32 HP:0000512
2 progressive visual loss 32 HP:0000529
3 retinal degeneration 32 HP:0000546
4 cone/cone-rod dystrophy 32 HP:0000548
5 abnormality of color vision 32 HP:0000551
6 photophobia 32 HP:0000613
7 bull's eye maculopathy 32 HP:0011504

Drugs & Therapeutics for Retinal Cone Dystrophy 1

Drugs for Retinal Cone Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etoposide Approved Phase 2 33419-42-0 36462
2
Mitoxantrone Approved, Investigational Phase 2 65271-80-9 4212
3
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
4 Analgesics Phase 2
5 Antineoplastic Agents, Phytogenic Phase 2
6 Etoposide phosphate Phase 2
7 Peripheral Nervous System Agents Phase 2
8 topoisomerase I inhibitors Phase 2
9 Topoisomerase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Topotecan in Patients With Refractory Acute Leukemia Completed NCT00100477 Phase 2 Topotecan;Mitozantrone;Etoposide

Search NIH Clinical Center for Retinal Cone Dystrophy 1

Genetic Tests for Retinal Cone Dystrophy 1

Anatomical Context for Retinal Cone Dystrophy 1

MalaCards organs/tissues related to Retinal Cone Dystrophy 1:

41
Eye

Publications for Retinal Cone Dystrophy 1

Variations for Retinal Cone Dystrophy 1

Expression for Retinal Cone Dystrophy 1

Search GEO for disease gene expression data for Retinal Cone Dystrophy 1.

Pathways for Retinal Cone Dystrophy 1

GO Terms for Retinal Cone Dystrophy 1

Sources for Retinal Cone Dystrophy 1

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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