MCID: CNR030
MIFTS: 19

Cone-Rod Dystrophy 20

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Cone-Rod Dystrophy 20

MalaCards integrated aliases for Cone-Rod Dystrophy 20:

Name: Cone-Rod Dystrophy 20 57 12 75 29 6 73
Cord20 57 12 75
Dystrophy, Cone-Rod, Type 20 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cone-rod dystrophy 20:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 20

UniProtKB/Swiss-Prot : 75 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 visual impairment and cone/cone-rod dystrophy

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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

615973

Human phenotypes related to Cone-Rod Dystrophy 20:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 cone/cone-rod dystrophy 32 HP:0000548
3 abnormality of color vision 32 HP:0000551
4 nystagmus 32 occasional (7.5%) HP:0000639
5 constriction of peripheral visual field 32 HP:0001133
6 reduced visual acuity 32 HP:0007663

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 29 POC1B

Anatomical Context for Cone-Rod Dystrophy 20

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

41
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:

75
# 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 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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