CORD18
MCID: CNR026
MIFTS: 22

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 57 12 75 29 6 15 73
Cord18 57 12 75
Dystrophy, Cone-Rod, Type 18 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in the second decade of life


HPO:

32
cone-rod dystrophy 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615374
Disease Ontology 12 DOID:0111024
MeSH 44 D058499
UMLS 73 C3809299

Summaries for Cone-Rod Dystrophy 18

UniProtKB/Swiss-Prot : 75 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 central scotoma and cone/cone-rod dystrophy

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
central scotoma
foveal hyperpigmentation
high myopia
decreased visual acuity, rapidly progressive
foveal hyperfluorescence
more

Clinical features from OMIM:

615374

Human phenotypes related to Cone-Rod Dystrophy 18:

32
# Description HPO Frequency HPO Source Accession
1 central scotoma 32 HP:0000603
2 cone/cone-rod dystrophy 32 HP:0000548
3 foveal hyperpigmentation 32 HP:0008001
4 high myopia 32 HP:0011003
5 foveal atrophy 32 occasional (7.5%) HP:0025010

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.36 RAB28
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.36 PDE6D
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.36 RAB28
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.36 PDE6D
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.36 PDE6D RAB28
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.36 PDE6D
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.36 PDE6D
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.36 PDE6D
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.36 RAB28
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.36 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 29 RAB28

Anatomical Context for Cone-Rod Dystrophy 18

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

41
Eye

Publications for Cone-Rod Dystrophy 18

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

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 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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