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 56 12 73 29 6 15 71
Cord18 56 12 73
Dystrophy, Cone-Rod, Type 18 39

Characteristics:

OMIM:

56
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 56 615374
OMIM Phenotypic Series 56 PS120970
MeSH 43 D058499
UMLS 71 C3809299

Summaries for Cone-Rod Dystrophy 18

UniProtKB/Swiss-Prot : 73 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 weyers acrofacial dysostosis and retinitis pigmentosa 28. 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. 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:

56
Head And Neck Eyes:
high myopia
central scotoma
foveal hyperpigmentation
decreased visual acuity, rapidly progressive
foveal hyperfluorescence
more

Clinical features from OMIM:

615374

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

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. 56 6
25356532 2015
2
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 56 6
23746546 2013
3
Cone rod dystrophies. 6
17270046 2007
4
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
5
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 GRCh37 Pos GRCh38 Pos
1 RAB28 NM_001017979.3(RAB28):c.565C>T (p.Gln189Ter)SNV Pathogenic 60754 rs786200944 4:13378177-13378177 4:13376553-13376553
2 RAB28 NM_001017979.3(RAB28):c.409C>T (p.Arg137Ter)SNV Pathogenic 60755 rs398123044 4:13383201-13383201 4:13381577-13381577
3 RAB28 NM_001017979.3(RAB28):c.574-1238T>GSNV Pathogenic 225879 rs751163782 4:13371512-13371512 4:13369888-13369888
4 RAB28 NM_001017979.3(RAB28):c.172+1G>CSNV Pathogenic 225878 rs875989778 4:13481053-13481053 4:13479429-13479429
5 RAB28 NM_001017979.3(RAB28):c.355_356del (p.Glu119fs)deletion Likely pathogenic 623218 rs1560141393 4:13462358-13462359 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 9.7 TTC25 TRAF3IP1 RAB28 POC1B CEP78 CCDC96
2 microtubule organizing center GO:0005815 9.67 POC1B CEP78 CCDC96 C4orf47
3 centrosome GO:0005813 9.65 TRAF3IP1 POC1B CLUAP1 CEP78 C4orf47
4 cilium GO:0005929 9.62 TRAF3IP1 ENKUR CLUAP1 CEP78
5 ciliary tip GO:0097542 9.43 TRAF3IP1 CLUAP1
6 intraciliary transport particle B GO:0030992 9.4 TRAF3IP1 CLUAP1
7 ciliary basal body GO:0036064 9.26 TRAF3IP1 RAB28 POC1B CEP78
8 cell projection GO:0042995 9.17 TTC25 TRAF3IP1 RAB28 POC1B ENKUR CLUAP1

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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