CORD16
MCID: CNR014
MIFTS: 40

Cone-Rod Dystrophy 16 (CORD16)

Categories: Eye diseases, Genetic diseases, Neuronal 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 and retina, and related phenotypes are optic disc pallor and attenuation of retinal blood vessels

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

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 21 30.5 C8orf37-AS1 C8orf37
2 inherited retinal disorder 28.8 TTLL5 PCARE IFT140 FAM161A DRAM2
3 cone-rod dystrophy 2 27.3 TTLL5 TMEM231 RAB28 POC1B PCARE FAM161A
4 retinitis pigmentosa 26.7 TTLL5 TMEM231 RAB28 POC1B PCARE IFT140
5 fundus dystrophy 26.4 TTLL5 TTLL10 TMEM231 RAB28 POC1B PCARE
6 cone-rod dystrophy 21 12.1
7 polydactyly 10.1
8 neuroretinitis 10.1
9 retinitis 10.1
10 retinal ciliopathy 10.0 POC1B IFT140
11 retinitis pigmentosa 63 10.0 PCARE C8orf37
12 joubert syndrome 23 9.9 DZANK1 CCDC120
13 orofaciodigital syndrome ix 9.9 POC1B DZANK1 CCDC120
14 cone-rod dystrophy 20 9.9 POC1B DZANK1 CCDC120
15 retinitis pigmentosa 55 9.9 PCARE FAM161A C8orf37
16 retinitis pigmentosa 51 9.8 PCARE FAM161A C8orf37
17 cone-rod dystrophy 18 9.8 TTLL10 RAB28 POC1B CEP78
18 seckel syndrome 7 9.8 POC1B DZANK1 CCDC120
19 retinitis pigmentosa 31 9.8 PCARE FAM161A C8orf37
20 joubert syndrome 4 9.7 DZANK1 CCDC120
21 ciliopathy 9.7 TMEM231 IFT140
22 retinitis pigmentosa 28 9.6 RAB28 POC1B PCARE FAM161A
23 joubert syndrome 3 9.6 DZANK1 CCDC120
24 achromatopsia 9.5 TTLL5 TTLL10 RAB28 PCARE
25 retinitis pigmentosa 74 9.5 PCARE IFT140 FAM161A C8orf37
26 retinitis pigmentosa 62 9.5 PCARE IFT140 FAM161A C8orf37
27 senior-loken syndrome 1 9.3 TMEM231 POC1B IFT140 FAM161A
28 retinal degeneration 9.2 PCARE IFT140 FAM161A CEP78
29 bardet-biedl syndrome 8.8 TMEM231 PCARE IFT140 FAM161A C8orf37-AS1 C8orf37
30 leber plus disease 8.8 TMEM231 POC1B PCARE IFT140 FAM161A C8orf37
31 retinitis pigmentosa 54 8.7 POC1B PCARE IFT140 FAM161A DZANK1 CCDC120
32 joubert syndrome 1 8.2 TMEM231 POC1B PCARE IFT140 FAM161A DZANK1

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 attenuation of retinal blood vessels 31 very rare (1%) HP:0007843
3 postaxial polydactyly 31 very rare (1%) HP:0100259
4 bone spicule pigmentation of the retina 31 very rare (1%) HP:0007737
5 cataract 31 HP:0000518
6 photophobia 31 HP:0000613
7 progressive visual loss 31 HP:0000529
8 reduced visual acuity 31 HP:0007663
9 nyctalopia 31 HP:0000662
10 rod-cone dystrophy 31 HP:0000510
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

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 16:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 C8orf37 DZANK1 FAM161A IFT140 PCARE RAB28

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, 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. 6 56
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. 6 56
22177090 2012
4
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). 6 61
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 (show top 50) (show all 64) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C8orf37 NM_177965.4(C8orf37):c.555G>A (p.Trp185Ter)SNV Pathogenic 417788 rs748014296 8:96259914-96259914 8:95247686-95247686
2 C8orf37 NM_177965.4(C8orf37):c.244-2A>CSNV Pathogenic 417787 rs1060505042 8:96272762-96272762 8:95260534-95260534
3 C8orf37 NM_177965.4(C8orf37):c.155+2T>CSNV Pathogenic 417790 rs1085307121 8:96281261-96281261 8:95269033-95269033
4 C8orf37 NM_177965.4(C8orf37):c.497T>A (p.Leu166Ter)SNV Pathogenic 31192 rs1064792852 8:96259972-96259972 8:95247744-95247744
5 C8orf37 NM_177965.4(C8orf37):c.156-2A>GSNV Pathogenic 31193 rs1064792853 8:96276004-96276004 8:95263776-95263776
6 C8orf37 NM_177965.4(C8orf37):c.545A>G (p.Gln182Arg)SNV Pathogenic 31195 rs387907137 8:96259924-96259924 8:95247696-95247696
7 C8orf37 NM_177965.4(C8orf37):c.529C>T (p.Arg177Trp)SNV Pathogenic/Likely pathogenic 31194 rs387907136 8:96259940-96259940 8:95247712-95247712
8 C8orf37 NM_177965.4(C8orf37):c.*536A>CSNV Conflicting interpretations of pathogenicity 915153 8:96259309-96259309 8:95247081-95247081
9 C8orf37 NM_177965.4(C8orf37):c.*791G>TSNV Conflicting interpretations of pathogenicity 915151 8:96259054-96259054 8:95246826-95246826
10 C8orf37 NM_177965.4(C8orf37):c.155+8G>ASNV Conflicting interpretations of pathogenicity 788871 8:96281255-96281255 8:95269027-95269027
11 C8orf37 NM_177965.4(C8orf37):c.*2212C>TSNV Conflicting interpretations of pathogenicity 912347 8:96257633-96257633 8:95245405-95245405
12 C8orf37 NM_177965.4(C8orf37):c.*2166T>GSNV Conflicting interpretations of pathogenicity 912349 8:96257679-96257679 8:95245451-95245451
13 C8orf37 NM_177965.4(C8orf37):c.126G>C (p.Arg42=)SNV Conflicting interpretations of pathogenicity 290835 rs115853053 8:96281292-96281292 8:95269064-95269064
14 C8orf37 NM_177965.4(C8orf37):c.450G>A (p.Ser150=)SNV Conflicting interpretations of pathogenicity 364000 rs35141355 8:96264436-96264436 8:95252208-95252208
15 C8orf37 NM_177965.4(C8orf37):c.*2330C>TSNV Conflicting interpretations of pathogenicity 363983 rs150859301 8:96257515-96257515 8:95245287-95245287
16 C8orf37 NM_177965.4(C8orf37):c.528A>G (p.Thr176=)SNV Conflicting interpretations of pathogenicity 363999 rs143748636 8:96259941-96259941 8:95247713-95247713
17 C8orf37 NM_177965.4(C8orf37):c.-5T>CSNV Uncertain significance 364003 rs886063195 8:96281422-96281422 8:95269194-95269194
18 C8orf37 NM_177965.4(C8orf37):c.*965C>GSNV Uncertain significance 363994 rs886063193 8:96258880-96258880 8:95246652-95246652
19 C8orf37 NM_177965.4(C8orf37):c.*2617G>TSNV Uncertain significance 363979 rs141942063 8:96257228-96257228 8:95245000-95245000
20 C8orf37 NM_177965.4(C8orf37):c.*2549C>ASNV Uncertain significance 363980 rs745781812 8:96257296-96257296 8:95245068-95245068
21 C8orf37 NM_177965.4(C8orf37):c.*406A>TSNV Uncertain significance 363997 rs530747662 8:96259439-96259439 8:95247211-95247211
22 C8orf37 NM_177965.4(C8orf37):c.*383C>TSNV Uncertain significance 363998 rs189171642 8:96259462-96259462 8:95247234-95247234
23 C8orf37 NM_177965.4(C8orf37):c.*2017C>GSNV Uncertain significance 363986 rs550269782 8:96257828-96257828 8:95245600-95245600
24 C8orf37 NM_177965.4(C8orf37):c.*1687T>ASNV Uncertain significance 363989 rs886063191 8:96258158-96258158 8:95245930-95245930
25 C8orf37 NM_177965.4(C8orf37):c.*1629T>GSNV Uncertain significance 363991 rs532315210 8:96258216-96258216 8:95245988-95245988
26 C8orf37 NM_177965.4(C8orf37):c.*944A>CSNV Uncertain significance 363995 rs886063194 8:96258901-96258901 8:95246673-95246673
27 C8orf37 NM_177965.4(C8orf37):c.*2102G>ASNV Uncertain significance 363985 rs184350873 8:96257743-96257743 8:95245515-95245515
28 C8orf37 NM_177965.4(C8orf37):c.*1870T>ASNV Uncertain significance 363988 rs767822765 8:96257975-96257975 8:95245747-95245747
29 C8orf37 NM_177965.4(C8orf37):c.*1675G>TSNV Uncertain significance 363990 rs886063192 8:96258170-96258170 8:95245942-95245942
30 C8orf37 NM_177965.4(C8orf37):c.*408G>ASNV Uncertain significance 363996 rs561848397 8:96259437-96259437 8:95247209-95247209
31 C8orf37 NM_177965.4(C8orf37):c.*2129A>GSNV Uncertain significance 913481 8:96257716-96257716 8:95245488-95245488
32 C8orf37 NM_177965.4(C8orf37):c.*2212C>GSNV Uncertain significance 912348 8:96257633-96257633 8:95245405-95245405
33 C8orf37 NM_177965.4(C8orf37):c.*2009C>TSNV Uncertain significance 913860 8:96257836-96257836 8:95245608-95245608
34 C8orf37 NM_177965.4(C8orf37):c.*1904G>ASNV Uncertain significance 913861 8:96257941-96257941 8:95245713-95245713
35 C8orf37 NM_177965.4(C8orf37):c.94G>A (p.Gly32Ser)SNV Uncertain significance 802425 8:96281324-96281324 8:95269096-95269096
36 C8orf37 NM_177965.4(C8orf37):c.*2498A>GSNV Uncertain significance 915068 8:96257347-96257347 8:95245119-95245119
37 C8orf37 NM_177965.4(C8orf37):c.*2492C>TSNV Uncertain significance 915069 8:96257353-96257353 8:95245125-95245125
38 C8orf37 NM_177965.4(C8orf37):c.269A>G (p.Asn90Ser)SNV Uncertain significance 522286 rs199731969 8:96272735-96272735 8:95260507-95260507
39 C8orf37 NM_177965.4(C8orf37):c.*1628A>TSNV Uncertain significance 912406 8:96258217-96258217 8:95245989-95245989
40 C8orf37 NM_177965.4(C8orf37):c.*1607T>CSNV Uncertain significance 912407 8:96258238-96258238 8:95246010-95246010
41 C8orf37 NM_177965.4(C8orf37):c.*1474G>ASNV Uncertain significance 913524 8:96258371-96258371 8:95246143-95246143
42 C8orf37 NM_177965.4(C8orf37):c.*1151A>GSNV Uncertain significance 913525 8:96258694-96258694 8:95246466-95246466
43 C8orf37 NM_177965.4(C8orf37):c.*1115G>CSNV Uncertain significance 913905 8:96258730-96258730 8:95246502-95246502
44 C8orf37 NM_177965.4(C8orf37):c.*1057C>TSNV Uncertain significance 913906 8:96258788-96258788 8:95246560-95246560
45 C8orf37 NM_177965.4(C8orf37):c.*863C>TSNV Uncertain significance 915150 8:96258982-96258982 8:95246754-95246754
46 C8orf37 NM_177965.4(C8orf37):c.*336G>ASNV Uncertain significance 912446 8:96259509-96259509 8:95247281-95247281
47 C8orf37 NM_177965.4(C8orf37):c.*249T>CSNV Uncertain significance 913561 8:96259596-96259596 8:95247368-95247368
48 C8orf37 NM_177965.4(C8orf37):c.*155G>TSNV Uncertain significance 913562 8:96259690-96259690 8:95247462-95247462
49 C8orf37 NM_177965.4(C8orf37):c.598C>A (p.Leu200Ile)SNV Uncertain significance 913563 8:96259871-96259871 8:95247643-95247643
50 C8orf37 NM_177965.4(C8orf37):c.498A>G (p.Leu166=)SNV Uncertain significance 913949 8:96259971-96259971 8:95247743-95247743

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 cytoskeleton GO:0005856 9.92 TTLL9 TTLL5 RAB28 POC1B IFT140 FAM161A
2 centrosome GO:0005813 9.8 TTLL5 POC1B IFT140 FAM161A CEP78
3 cilium GO:0005929 9.7 TTLL9 TTLL5 TMEM231 PCARE IFT140 FAM161A
4 centriole GO:0005814 9.67 POC1B IFT140 CEP78 CCDC120
5 photoreceptor inner segment GO:0001917 9.56 PCARE FAM161A DRAM2 C8orf37
6 photoreceptor connecting cilium GO:0032391 9.43 IFT140 FAM161A
7 ciliary basal body GO:0036064 9.43 TTLL9 RAB28 POC1B IFT140 FAM161A CEP78
8 cell projection GO:0042995 9.32 TTLL9 TTLL5 TMEM231 RAB28 POC1B PCARE

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.58 PCARE FAM161A DRAM2
2 cellular protein modification process GO:0006464 9.5 TTLL9 TTLL5 TTLL10
3 embryonic digit morphogenesis GO:0042733 9.43 TMEM231 IFT140
4 cilium organization GO:0044782 9.37 FAM161A CEP78
5 protein polyglutamylation GO:0018095 9.26 TTLL9 TTLL5
6 cilium assembly GO:0060271 9.26 TMEM231 POC1B IFT140 FAM161A
7 photoreceptor cell outer segment organization GO:0035845 9.16 PCARE IFT140
8 cell projection organization GO:0030030 9.02 TMEM231 POC1B IFT140 FAM161A CEP78

Molecular functions related to Cone-Rod Dystrophy 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tubulin-glutamic acid ligase activity GO:0070740 8.62 TTLL9 TTLL5

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
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50 NDF-RT
53 NINDS
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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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