CORD16
MCID: CNR014
MIFTS: 34

Cone-Rod Dystrophy 16 (CORD16)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 16

MalaCards integrated aliases for Cone-Rod Dystrophy 16:

Name: Cone-Rod Dystrophy 16 56 12 73 29 13 6 15 71
Retinitis Pigmentosa 64 56 73 29 6 71
Retinal Dystrophy with Early Macular Involvement 56 12 73
Cord16 56 12 73
Dystrophy, Cone-Rod, Type 16 39
Rp64 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cone-rod dystrophy 16:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111022
OMIM 56 614500
OMIM Phenotypic Series 56 PS120970 PS268000
UMLS 71 C3281045 C3281046

Summaries for Cone-Rod Dystrophy 16

UniProtKB/Swiss-Prot : 73 Cone-rod dystrophy 16: 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.
Retinitis pigmentosa 64: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Cone-Rod Dystrophy 16, also known as retinitis pigmentosa 64, is related to bardet-biedl syndrome 21 and inherited retinal disorder. An important gene associated with Cone-Rod Dystrophy 16 is C8orf37 (Chromosome 8 Open Reading Frame 37). Affiliated tissues include bone, eye and retina, and related phenotypes are optic disc pallor and postaxial polydactyly

Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22.

OMIM : 56 Cone-rod dystrophy (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012). (614500)

Related Diseases for Cone-Rod Dystrophy 16

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 16:



Diseases related to Cone-Rod Dystrophy 16

Symptoms & Phenotypes for Cone-Rod Dystrophy 16

Human phenotypes related to Cone-Rod Dystrophy 16:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 31 very rare (1%) HP:0000543
2 postaxial polydactyly 31 very rare (1%) HP:0100259
3 attenuation of retinal blood vessels 31 very rare (1%) HP:0007843
4 bone spicule pigmentation of the retina 31 very rare (1%) HP:0007737
5 cataract 31 HP:0000518
6 rod-cone dystrophy 31 HP:0000510
7 nyctalopia 31 HP:0000662
8 photophobia 31 HP:0000613
9 progressive visual loss 31 HP:0000529
10 reduced visual acuity 31 HP:0007663
11 cone/cone-rod dystrophy 31 HP:0000548
12 macular atrophy 31 HP:0007401
13 beaten bronze macular sheen 31 HP:0025147

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
macular atrophy
cataracts
photophobia (in some patients)
night blindness (in some patients)
attenuation of retinal vessels
more
Skeletal Feet:
postaxial polydactyly (in some patients)

Skeletal Hands:
postaxial polydactyly (in some patients)

Clinical features from OMIM:

614500

Drugs & Therapeutics for Cone-Rod Dystrophy 16

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 16

Genetic Tests for Cone-Rod Dystrophy 16

Genetic tests related to Cone-Rod Dystrophy 16:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 16 29 C8orf37
2 Retinitis Pigmentosa 64 29

Anatomical Context for Cone-Rod Dystrophy 16

MalaCards organs/tissues related to Cone-Rod Dystrophy 16:

40
Bone, Eye, Retina

Publications for Cone-Rod Dystrophy 16

Articles related to Cone-Rod Dystrophy 16:

(show all 11)
# Title Authors PMID Year
1
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. 56 6
26865426 2016
2
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. 56 6
25802487 2015
3
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. 56 6
22177090 2012
4
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). 61 6
27008867 2016
5
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. 6
26854863 2016
6
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
7
Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia. 56
25113443 2016
8
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
9
Cone rod dystrophies. 6
17270046 2007
10
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
11
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000

Variations for Cone-Rod Dystrophy 16

ClinVar genetic disease variations for Cone-Rod Dystrophy 16:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C8orf37 NM_177965.4(C8orf37):c.497T>A (p.Leu166Ter)SNV Pathogenic 31192 rs1064792852 8:96259972-96259972 8:95247744-95247744
2 C8orf37 NM_177965.4(C8orf37):c.156-2A>GSNV Pathogenic 31193 rs1064792853 8:96276004-96276004 8:95263776-95263776
3 C8orf37 NM_177965.4(C8orf37):c.529C>T (p.Arg177Trp)SNV Pathogenic 31194 rs387907136 8:96259940-96259940 8:95247712-95247712
4 C8orf37 NM_177965.4(C8orf37):c.545A>G (p.Gln182Arg)SNV Pathogenic 31195 rs387907137 8:96259924-96259924 8:95247696-95247696
5 C8orf37 NM_177965.4(C8orf37):c.244-2A>CSNV Pathogenic 417787 rs1060505042 8:96272762-96272762 8:95260534-95260534
6 C8orf37 NM_177965.4(C8orf37):c.555G>A (p.Trp185Ter)SNV Pathogenic 417788 rs748014296 8:96259914-96259914 8:95247686-95247686
7 C8orf37 NM_177965.4(C8orf37):c.155+2T>CSNV Pathogenic 417790 rs1085307121 8:96281261-96281261 8:95269033-95269033
8 C8orf37 NM_177965.4(C8orf37):c.528A>G (p.Thr176=)SNV Conflicting interpretations of pathogenicity 363999 rs143748636 8:96259941-96259941 8:95247713-95247713
9 C8orf37 NM_177965.4(C8orf37):c.269A>G (p.Asn90Ser)SNV Uncertain significance 522286 rs199731969 8:96272735-96272735 8:95260507-95260507
10 C8orf37 NM_177965.4(C8orf37):c.94G>A (p.Gly32Ser)SNV Uncertain significance 802425 8:96281324-96281324 8:95269096-95269096

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 16:

73
# Symbol AA change Variation ID SNP ID
1 C8orf37 p.Arg177Trp VAR_067305 rs387907136
2 C8orf37 p.Gln182Arg VAR_067306 rs387907137

Expression for Cone-Rod Dystrophy 16

Search GEO for disease gene expression data for Cone-Rod Dystrophy 16.

Pathways for Cone-Rod Dystrophy 16

GO Terms for Cone-Rod Dystrophy 16

Cellular components related to Cone-Rod Dystrophy 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 8.8 DRAM2 CERKL C8orf37

Biological processes related to Cone-Rod Dystrophy 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 autophagy GO:0006914 8.62 DRAM2 ACBD5

Sources for Cone-Rod Dystrophy 16

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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