CORD20
MCID: CNR030
MIFTS: 21

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 58 12 76 30 6 74
Cord20 58 12 76
Dystrophy, Cone-Rod, Type 20 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
cone-rod dystrophy 20:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 20

UniProtKB/Swiss-Prot : 76 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, is also known as cord20. An important gene associated with Cone-Rod Dystrophy 20 is POC1B (POC1 Centriolar Protein B). Affiliated tissues include bone and eye, 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.

Description from OMIM: 615973

Related Diseases for Cone-Rod Dystrophy 20

Symptoms & Phenotypes for Cone-Rod Dystrophy 20

Human phenotypes related to Cone-Rod Dystrophy 20:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 occasional (7.5%) HP:0000639
2 reduced visual acuity 33 HP:0007663
3 abnormality of color vision 33 HP:0000551
4 central scotoma 33 HP:0000603
5 constriction of peripheral visual field 33 HP:0001133
6 cone/cone-rod dystrophy 33 HP:0000548

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Cone-Rod Dystrophy 20

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Optimal Timing of Cord Clamping in Preterm Pregnancy Following Vaginal or Cesarean Delivery Completed NCT01766908 Not Applicable

Search 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 30 POC1B

Anatomical Context for Cone-Rod Dystrophy 20

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

42
Bone, Eye

Publications for Cone-Rod Dystrophy 20

Variations for Cone-Rod Dystrophy 20

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

76
# Symbol AA change Variation ID SNP ID
1 POC1B p.Arg106Pro VAR_071917 rs76216585

ClinVar genetic disease variations for Cone-Rod Dystrophy 20:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POC1B NM_172240.2(POC1B): c.317G> C (p.Arg106Pro) single nucleotide variant Pathogenic rs76216585 GRCh37 Chromosome 12, 89885848: 89885848
2 POC1B NM_172240.2(POC1B): c.317G> C (p.Arg106Pro) single nucleotide variant Pathogenic rs76216585 GRCh38 Chromosome 12, 89492071: 89492071
3 POC1B NM_172240.2(POC1B): c.199_201delCAG (p.Gln67del) deletion Pathogenic rs587777693 GRCh37 Chromosome 12, 89891019: 89891021
4 POC1B NM_172240.2(POC1B): c.199_201delCAG (p.Gln67del) deletion Pathogenic rs587777693 GRCh38 Chromosome 12, 89497242: 89497244
5 POC1B NM_172240.2(POC1B): c.810+1G> T single nucleotide variant Pathogenic rs587777694 GRCh37 Chromosome 12, 89864137: 89864137
6 POC1B NM_172240.2(POC1B): c.810+1G> T single nucleotide variant Pathogenic rs587777694 GRCh38 Chromosome 12, 89470360: 89470360

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

Sources for Cone-Rod Dystrophy 20

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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