CORD20
MCID: CNR030
MIFTS: 34

Cone-Rod Dystrophy 20 (CORD20)

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

Aliases & Classifications for Cone-Rod Dystrophy 20

MalaCards integrated aliases for Cone-Rod Dystrophy 20:

Name: Cone-Rod Dystrophy 20 57 12 72 29 6 15 70
Cord20 57 12 72
Dystrophy, Cone-Rod, Type 20 39

Characteristics:

OMIM®:

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

Miscellaneous:
progression of phenotype with age
initially normal rod responses may become significantly reduced at older age


HPO:

31
cone-rod dystrophy 20:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111026
OMIM® 57 615973
OMIM Phenotypic Series 57 PS120970
MeSH 44 D058499
UMLS 70 C4014856

Summaries for Cone-Rod Dystrophy 20

UniProtKB/Swiss-Prot : 72 Cone-rod dystrophy 20: 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 20, also known as cord20, is related to nephrotic syndrome, type 3 and retinitis pigmentosa 28. An important gene associated with Cone-Rod Dystrophy 20 is POC1B (POC1 Centriolar Protein B), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include eye and bone, and related phenotypes are nystagmus and reduced visual acuity

Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21.

More information from OMIM: 615973 PS120970

Related Diseases for Cone-Rod Dystrophy 20

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



Diseases related to Cone-Rod Dystrophy 20

Symptoms & Phenotypes for Cone-Rod Dystrophy 20

Human phenotypes related to Cone-Rod Dystrophy 20:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 reduced visual acuity 31 HP:0007663
3 color vision defect 31 HP:0000551
4 constriction of peripheral visual field 31 HP:0001133
5 cone/cone-rod dystrophy 31 HP:0000548
6 central scotoma 31 HP:0000603

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
reduced visual acuity
constriction of peripheral visual field
nystagmus (in some patients)
color vision defects
central scotoma, relative or absolute
more

Clinical features from OMIM®:

615973 (Updated 20-May-2021)

Drugs & Therapeutics for Cone-Rod Dystrophy 20

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 20

Genetic Tests for Cone-Rod Dystrophy 20

Genetic tests related to Cone-Rod Dystrophy 20:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 20 29 POC1B

Anatomical Context for Cone-Rod Dystrophy 20

MalaCards organs/tissues related to Cone-Rod Dystrophy 20:

40
Eye, Bone

Publications for Cone-Rod Dystrophy 20

Articles related to Cone-Rod Dystrophy 20:

# Title Authors PMID Year
1
Novel recessive cone-rod dystrophy caused by POC1B mutation. 6 57
24945461 2014
2
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 6 57
25018096 2014
3
Mutation of POC1B in a severe syndromic retinal ciliopathy. 6
25044745 2014

Variations for Cone-Rod Dystrophy 20

ClinVar genetic disease variations for Cone-Rod Dystrophy 20:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POC1B NM_172240.3(POC1B):c.317G>C (p.Arg106Pro) SNV Pathogenic 155769 rs76216585 GRCh37: 12:89885848-89885848
GRCh38: 12:89492071-89492071
2 POC1B NM_172240.3(POC1B):c.199_201del (p.Gln67del) Deletion Pathogenic 155770 rs587777693 GRCh37: 12:89891019-89891021
GRCh38: 12:89497242-89497244
3 POC1B NM_172240.3(POC1B):c.810+1G>T SNV Pathogenic 155771 rs587777694 GRCh37: 12:89864137-89864137
GRCh38: 12:89470360-89470360
4 POC1B NM_172240.3(POC1B):c.1423C>T (p.Gln475Ter) SNV Pathogenic 1029263 GRCh37: 12:89814944-89814944
GRCh38: 12:89421167-89421167
5 POC1B NM_172240.3(POC1B):c.144del (p.Lys48fs) Deletion Pathogenic 1029264 GRCh37: 12:89891076-89891076
GRCh38: 12:89497299-89497299
6 POC1B , POC1B-GALNT4 , GALNT4 NM_172240.3(POC1B):c.100+2302A>T SNV Pathogenic 1034354 GRCh37: 12:89916595-89916595
GRCh38: 12:89522818-89522818
7 POC1B , POC1B-GALNT4 NM_172240.3(POC1B):c.52A>T (p.Lys18Ter) SNV Likely pathogenic 992468 GRCh37: 12:89918945-89918945
GRCh38: 12:89525168-89525168
8 POC1B NM_172240.3:c.1331_1332dup Duplication Likely pathogenic 992469 GRCh37:
GRCh38:

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 20:

72
# Symbol AA change Variation ID SNP ID
1 POC1B p.Arg106Pro VAR_071917 rs76216585

Expression for Cone-Rod Dystrophy 20

Search GEO for disease gene expression data for Cone-Rod Dystrophy 20.

Pathways for Cone-Rod Dystrophy 20

GO Terms for Cone-Rod Dystrophy 20

Cellular components related to Cone-Rod Dystrophy 20 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.28 TUBE1 TUBD1 POC1B ODF2 NEDD1 KIF24
2 cell projection GO:0042995 9.97 TUBD1 POC1B ODF2 CEP350 CEP19 CCDC120
3 centrosome GO:0005813 9.97 POC1B ODF2 NEDD1 CEP97 CEP89 CEP350
4 microtubule organizing center GO:0005815 9.86 TUBE1 POC1B ODF2 NEDD1 CEP97 CEP89
5 microtubule GO:0005874 9.83 TUBE1 TUBD1 ODF2 KIF24 CEP162
6 spindle pole GO:0000922 9.8 POC1B ODF2 NEDD1 CEP89 CEP19 CEP128
7 cytoskeleton GO:0005856 9.8 TUBE1 TUBD1 POC1B ODF2 NEDD1 KIF24
8 ciliary basal body GO:0036064 9.76 POC1B ODF2 NEDD1 CEP19
9 pericentriolar material GO:0000242 9.51 TUBE1 NEDD1
10 ciliary transition fiber GO:0097539 9.48 ODF2 CEP89
11 centriolar subdistal appendage GO:0120103 9.46 ODF2 CEP128 CCDC68 CCDC120
12 centriole GO:0005814 9.4 TUBD1 POC1B ODF2 NEDD1 KIF24 CEP89

Biological processes related to Cone-Rod Dystrophy 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.65 POC1B KIF24 CEP89 CEP19 CEP162
2 protein localization GO:0008104 9.62 ODF2 CEP128 CCDC68 CCDC120
3 cell projection organization GO:0030030 9.5 TUBD1 POC1B KIF24 CEP97 CEP89 CEP19
4 microtubule-based process GO:0007017 9.4 TUBE1 TUBD1
5 protein localization to centrosome GO:0071539 9.37 NEDD1 CEP350
6 microtubule anchoring at centrosome GO:0034454 9.33 CEP19 CCDC68 CCDC120
7 ciliary basal body-plasma membrane docking GO:0097711 9.1 ODF2 NEDD1 KIF24 CEP97 CEP89 CEP162

Molecular functions related to Cone-Rod Dystrophy 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 polypeptide N-acetylgalactosaminyltransferase activity GO:0004653 8.62 POC1B-GALNT4 GALNT4

Sources for Cone-Rod Dystrophy 20

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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