CORD18
MCID: CNR026
MIFTS: 30

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 72 29 6 15 70
Cord18 57 12 72
Dystrophy, Cone-Rod, Type 18 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of symptoms in the second decade of life


HPO:

31
cone-rod dystrophy 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111024
OMIM® 57 615374
OMIM Phenotypic Series 57 PS120970
MeSH 44 D000071700
SNOMED-CT via HPO 68 258211005 34187009 38950008
UMLS 70 C3809299

Summaries for Cone-Rod Dystrophy 18

UniProtKB/Swiss-Prot : 72 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, also known as cord18, is related to retinitis pigmentosa 28 and weyers acrofacial dysostosis. An important gene associated with Cone-Rod Dystrophy 18 is RAB28 (RAB28, Member RAS Oncogene Family), and among its related pathways/superpathways is Intraflagellar transport. Affiliated tissues include eye, and related phenotypes are foveal atrophy 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.

More information from OMIM: 615374 PS120970

Related Diseases for Cone-Rod Dystrophy 18

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 18:



Diseases related to Cone-Rod Dystrophy 18

Symptoms & Phenotypes for Cone-Rod Dystrophy 18

Human phenotypes related to Cone-Rod Dystrophy 18:

31
# Description HPO Frequency HPO Source Accession
1 foveal atrophy 31 occasional (7.5%) HP:0025010
2 cone/cone-rod dystrophy 31 HP:0000548
3 high myopia 31 HP:0011003
4 central scotoma 31 HP:0000603
5 foveal hyperpigmentation 31 HP:0008001

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
high myopia
central scotoma
foveal hyperpigmentation
decreased visual acuity, rapidly progressive
foveal hyperfluorescence
more

Clinical features from OMIM®:

615374 (Updated 20-May-2021)

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:

40
Eye

Publications for Cone-Rod Dystrophy 18

Articles related to Cone-Rod Dystrophy 18:

# Title Authors PMID Year
1
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 57 6
25356532 2015
2
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 6 57
23746546 2013
3
The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium. 61
30228185 2018

Variations for Cone-Rod Dystrophy 18

ClinVar genetic disease variations for Cone-Rod Dystrophy 18:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAB28 NM_001017979.3(RAB28):c.565C>T (p.Gln189Ter) SNV Pathogenic 60754 rs786200944 GRCh37: 4:13378177-13378177
GRCh38: 4:13376553-13376553
2 RAB28 NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter) SNV Pathogenic 60755 rs398123044 GRCh37: 4:13383201-13383201
GRCh38: 4:13381577-13381577
3 RAB28 NM_001017979.3(RAB28):c.172+1G>C SNV Pathogenic 225878 rs875989778 GRCh37: 4:13481053-13481053
GRCh38: 4:13479429-13479429
4 RAB28 NM_001017979.3(RAB28):c.574-1238T>G SNV Pathogenic 225879 rs751163782 GRCh37: 4:13371512-13371512
GRCh38: 4:13369888-13369888
5 RAB28 NM_001017979.3(RAB28):c.355_356del (p.Glu119fs) Deletion Likely pathogenic 623218 rs1560141393 GRCh37: 4:13462358-13462359
GRCh38: 4:13460734-13460735

Expression for Cone-Rod Dystrophy 18

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

Pathways for Cone-Rod Dystrophy 18

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

# Super pathways Score Top Affiliating Genes
1 10.24 TRAF3IP1 CLUAP1

GO Terms for Cone-Rod Dystrophy 18

Cellular components related to Cone-Rod Dystrophy 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.87 TTLL5 TRAF3IP1 RAB28 POC1B ODAD4 CEP78
2 cilium GO:0005929 9.65 TTLL5 TRAF3IP1 ENKUR CLUAP1 CEP78
3 centrosome GO:0005813 9.63 TTLL5 TRAF3IP1 POC1B CLUAP1 CEP78 C4orf47
4 cell projection GO:0042995 9.56 TTLL5 TRAF3IP1 RAB28 POC1B ODAD4 ENKUR
5 ciliary tip GO:0097542 9.43 TRAF3IP1 CLUAP1
6 intraciliary transport particle B GO:0030992 9.4 TRAF3IP1 CLUAP1
7 9+2 motile cilium GO:0097729 9.37 ODAD4 ENKUR
8 ciliary basal body GO:0036064 9.02 TRAF3IP1 RAB28 POC1B CEP78 C5orf49

Biological processes related to Cone-Rod Dystrophy 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intraciliary transport involved in cilium assembly GO:0035735 9.16 TRAF3IP1 CLUAP1
2 cilium assembly GO:0060271 9.13 TRAF3IP1 POC1B CLUAP1
3 cell projection organization GO:0030030 8.92 TRAF3IP1 POC1B CLUAP1 CEP78

Sources for Cone-Rod Dystrophy 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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