RP64
MCID: CNR014
MIFTS: 35

Cone-Rod Dystrophy 16 (RP64)

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 58 12 76 30 13 6 15 74
Retinitis Pigmentosa 64 58 76 30 6 74
Retinal Dystrophy with Early Macular Involvement 58 12 76
Cord16 58 12 76
Dystrophy, Cone-Rod, Type 16 41
Rp64 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cone-rod dystrophy 16:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 16

OMIM : 58 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)

MalaCards based summary : Cone-Rod Dystrophy 16, also known as retinitis pigmentosa 64, is related to fundus dystrophy and cone-rod dystrophy 21. An important gene associated with Cone-Rod Dystrophy 16 is C8orf37 (Chromosome 8 Open Reading Frame 37). The drugs Cyclophosphamide and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and eye, 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.

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Cone-Rod Dystrophy 16

Symptoms & Phenotypes for Cone-Rod Dystrophy 16

Human phenotypes related to Cone-Rod Dystrophy 16:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 optic disc pallor 33 very rare (1%) HP:0000543
2 attenuation of retinal blood vessels 33 very rare (1%) HP:0007843
3 postaxial polydactyly 33 very rare (1%) HP:0100259
4 bone spicule pigmentation of the retina 33 very rare (1%) HP:0007737
5 cataract 33 HP:0000518
6 photophobia 33 HP:0000613
7 progressive visual loss 33 HP:0000529
8 reduced visual acuity 33 HP:0007663
9 nyctalopia 33 HP:0000662
10 rod-cone dystrophy 33 HP:0000510
11 cone/cone-rod dystrophy 33 HP:0000548
12 macular atrophy 33 HP:0007401
13 beaten bronze macular sheen 33 HP:0025147

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
cataracts
photophobia (in some patients)
night blindness (in some patients)
macular atrophy
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

Drugs for Cone-Rod Dystrophy 16 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2 Vaccines Phase 2, Phase 3,Phase 1
3 Immunologic Factors Phase 2, Phase 3,Phase 1
4
nivolumab Approved Phase 1, Phase 2 946414-94-4
5
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
6 Antibodies Phase 1, Phase 2
7 Mitogens Phase 1, Phase 2
8 Antineoplastic Agents, Immunological Phase 1, Phase 2
9 Immunoglobulins Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vaccine Therapy in Treating Patients With Non-Small Cell Lung Cancer (NSCLC) Stages IIIB/IV Terminated NCT00516685 Phase 2, Phase 3
2 CIMAvax Vaccine, Nivolumab, and Pembrolizumab in Treating Patients With Advanced Non-small Cell Lung Cancer or Squamous Head and Neck Cancer Recruiting NCT02955290 Phase 1, Phase 2

Search 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 30 C8orf37
2 Retinitis Pigmentosa 64 30

Anatomical Context for Cone-Rod Dystrophy 16

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

42
Lung, Bone, Eye, Retina

Publications for Cone-Rod Dystrophy 16

Articles related to Cone-Rod Dystrophy 16:

# Title Authors Year
1
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). ( 27008867 )
2016
2
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. ( 26854863 )
2016
3
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. ( 26865426 )
2016
4
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. ( 25802487 )
2015
5
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. ( 25983245 )
2015
6
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. ( 22177090 )
2012

Variations for Cone-Rod Dystrophy 16

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

76
# Symbol AA change Variation ID SNP ID
1 C8orf37 p.Arg177Trp VAR_067305 rs387907136
2 C8orf37 p.Gln182Arg VAR_067306 rs387907137

ClinVar genetic disease variations for Cone-Rod Dystrophy 16:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 C8orf37 NM_177965.3(C8orf37): c.497T> A (p.Leu166Ter) single nucleotide variant Pathogenic rs1064792852 GRCh38 Chromosome 8, 95247744: 95247744
2 C8orf37 NM_177965.3(C8orf37): c.497T> A (p.Leu166Ter) single nucleotide variant Pathogenic rs1064792852 GRCh37 Chromosome 8, 96259972: 96259972
3 C8orf37 NM_177965.3(C8orf37): c.156-2A> G single nucleotide variant Pathogenic rs1064792853 GRCh38 Chromosome 8, 95263776: 95263776
4 C8orf37 NM_177965.3(C8orf37): c.156-2A> G single nucleotide variant Pathogenic rs1064792853 GRCh37 Chromosome 8, 96276004: 96276004
5 C8orf37 NM_177965.3(C8orf37): c.529C> T (p.Arg177Trp) single nucleotide variant Pathogenic rs387907136 GRCh37 Chromosome 8, 96259940: 96259940
6 C8orf37 NM_177965.3(C8orf37): c.529C> T (p.Arg177Trp) single nucleotide variant Pathogenic rs387907136 GRCh38 Chromosome 8, 95247712: 95247712
7 C8orf37 NM_177965.3(C8orf37): c.545A> G (p.Gln182Arg) single nucleotide variant Pathogenic rs387907137 GRCh37 Chromosome 8, 96259924: 96259924
8 C8orf37 NM_177965.3(C8orf37): c.545A> G (p.Gln182Arg) single nucleotide variant Pathogenic rs387907137 GRCh38 Chromosome 8, 95247696: 95247696
9 C8orf37 NM_177965.3(C8orf37): c.528A> G (p.Thr176=) single nucleotide variant Conflicting interpretations of pathogenicity rs143748636 GRCh38 Chromosome 8, 95247713: 95247713
10 C8orf37 NM_177965.3(C8orf37): c.528A> G (p.Thr176=) single nucleotide variant Conflicting interpretations of pathogenicity rs143748636 GRCh37 Chromosome 8, 96259941: 96259941
11 C8orf37 NM_177965.3(C8orf37): c.244-2A> C single nucleotide variant Pathogenic rs1060505042 GRCh38 Chromosome 8, 95260534: 95260534
12 C8orf37 NM_177965.3(C8orf37): c.244-2A> C single nucleotide variant Pathogenic rs1060505042 GRCh37 Chromosome 8, 96272762: 96272762
13 C8orf37 NM_177965.3(C8orf37): c.555G> A (p.Trp185Ter) single nucleotide variant Pathogenic rs748014296 GRCh37 Chromosome 8, 96259914: 96259914
14 C8orf37 NM_177965.3(C8orf37): c.555G> A (p.Trp185Ter) single nucleotide variant Pathogenic rs748014296 GRCh38 Chromosome 8, 95247686: 95247686
15 C8orf37 NM_177965.3(C8orf37): c.155+2T> C single nucleotide variant Pathogenic rs1085307121 GRCh37 Chromosome 8, 96281261: 96281261
16 C8orf37 NM_177965.3(C8orf37): c.155+2T> C single nucleotide variant Pathogenic rs1085307121 GRCh38 Chromosome 8, 95269033: 95269033
17 C8orf37 NM_177965.3(C8orf37): c.269A> G (p.Asn90Ser) single nucleotide variant Uncertain significance rs199731969 GRCh38 Chromosome 8, 95260507: 95260507
18 C8orf37 NM_177965.3(C8orf37): c.269A> G (p.Asn90Ser) single nucleotide variant Uncertain significance rs199731969 GRCh37 Chromosome 8, 96272735: 96272735

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 8.62 C8orf37 DRAM2

Sources for Cone-Rod Dystrophy 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
32 HMDB
33 HPO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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