CORD18
MCID: CNR026
MIFTS: 23

Cone-Rod Dystrophy 18 (CORD18)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 18

MalaCards integrated aliases for Cone-Rod Dystrophy 18:

Name: Cone-Rod Dystrophy 18 58 12 76 30 6 15 74
Cord18 58 12 76
Dystrophy, Cone-Rod, Type 18 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in the second decade of life


HPO:

33
cone-rod dystrophy 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111024
OMIM 58 615374
MeSH 45 D058499
UMLS 74 C3809299

Summaries for Cone-Rod Dystrophy 18

UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy 18: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy 18, is also known as cord18. An important gene associated with Cone-Rod Dystrophy 18 is RAB28 (RAB28, Member RAS Oncogene Family). Affiliated tissues include eye, and related phenotypes are foveal atrophy and central scotoma

Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous mutation in the RAB28 gene on chromosome 4p15.

Description from OMIM: 615374

Related Diseases for Cone-Rod Dystrophy 18

Symptoms & Phenotypes for Cone-Rod Dystrophy 18

Human phenotypes related to Cone-Rod Dystrophy 18:

33
# Description HPO Frequency HPO Source Accession
1 foveal atrophy 33 occasional (7.5%) HP:0025010
2 central scotoma 33 HP:0000603
3 cone/cone-rod dystrophy 33 HP:0000548
4 foveal hyperpigmentation 33 HP:0008001
5 high myopia 33 HP:0011003

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
central scotoma
foveal hyperpigmentation
high myopia
decreased visual acuity, rapidly progressive
foveal hyperfluorescence
more

Clinical features from OMIM:

615374

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 18 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.32 PDE6D
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.32 RAB28
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.32 PDE6D
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.32 PDE6D RAB28
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.32 PDE6D
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.32 PDE6D
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.32 PDE6D
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.32 RAB28
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.32 PDE6D

Drugs & Therapeutics for Cone-Rod Dystrophy 18

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 18

Genetic Tests for Cone-Rod Dystrophy 18

Genetic tests related to Cone-Rod Dystrophy 18:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 18 30 RAB28

Anatomical Context for Cone-Rod Dystrophy 18

MalaCards organs/tissues related to Cone-Rod Dystrophy 18:

42
Eye

Publications for Cone-Rod Dystrophy 18

Articles related to Cone-Rod Dystrophy 18:

# Title Authors Year
1
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. ( 25356532 )
2015
2
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. ( 23746546 )
2013

Variations for Cone-Rod Dystrophy 18

ClinVar genetic disease variations for Cone-Rod Dystrophy 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB28 NM_004249.3(RAB28): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs786200944 GRCh37 Chromosome 4, 13378177: 13378177
2 RAB28 NM_004249.3(RAB28): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs786200944 GRCh38 Chromosome 4, 13376553: 13376553
3 RAB28 NM_001017979.2(RAB28): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs398123044 GRCh37 Chromosome 4, 13383201: 13383201
4 RAB28 NM_001017979.2(RAB28): c.409C> T (p.Arg137Ter) single nucleotide variant Pathogenic rs398123044 GRCh38 Chromosome 4, 13381577: 13381577
5 RAB28 NM_004249.3(RAB28): c.651T> G (p.Cys217Trp) single nucleotide variant Pathogenic rs751163782 GRCh38 Chromosome 4, 13369888: 13369888
6 RAB28 NM_004249.3(RAB28): c.651T> G (p.Cys217Trp) single nucleotide variant Pathogenic rs751163782 GRCh37 Chromosome 4, 13371512: 13371512
7 RAB28 NM_004249.3(RAB28): c.172+1G> C single nucleotide variant Pathogenic rs875989778 GRCh37 Chromosome 4, 13481053: 13481053
8 RAB28 NM_004249.3(RAB28): c.172+1G> C single nucleotide variant Pathogenic rs875989778 GRCh38 Chromosome 4, 13479429: 13479429
9 RAB28 NM_004249.3: c.355_356delGA deletion Likely pathogenic GRCh38 Chromosome 4, 13460735: 13460736
10 RAB28 NM_004249.3: c.355_356delGA deletion Likely pathogenic GRCh37 Chromosome 4, 13462358: 13462359

Expression for Cone-Rod Dystrophy 18

Search GEO for disease gene expression data for Cone-Rod Dystrophy 18.

Pathways for Cone-Rod Dystrophy 18

GO Terms for Cone-Rod Dystrophy 18

Sources for Cone-Rod Dystrophy 18

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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