CORD13
MCID: CNR024
MIFTS: 21

Cone-Rod Dystrophy 13 (CORD13)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 13

MalaCards integrated aliases for Cone-Rod Dystrophy 13:

Name: Cone-Rod Dystrophy 13 58 12 76 30 13 6 74
Cord13 58 12 76
Dystrophy, Cone-Rod, Type 13 41

Characteristics:

HPO:

33
cone-rod dystrophy 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111016
OMIM 58 608194
MeSH 45 D058499
MedGen 43 C2750720
UMLS 74 C2750720

Summaries for Cone-Rod Dystrophy 13

UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy 13: 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 13, also known as cord13, is related to leber congenital amaurosis 6 and leber congenital amaurosis. An important gene associated with Cone-Rod Dystrophy 13 is RPGRIP1 (RPGR Interacting Protein 1). Affiliated tissues include eye, and related phenotypes are photophobia and reduced visual acuity

Disease Ontology : 12 A cone-rod dystrophy that has material basis in mutation in the RPGRIP1 gene on chromosome 14q11.2.

Description from OMIM: 608194

Related Diseases for Cone-Rod Dystrophy 13

Symptoms & Phenotypes for Cone-Rod Dystrophy 13

Human phenotypes related to Cone-Rod Dystrophy 13:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 reduced visual acuity 33 HP:0007663
3 abnormality of color vision 33 HP:0000551
4 macular degeneration 33 HP:0000608
5 cone/cone-rod dystrophy 33 HP:0000548
6 undetectable light- and dark-adapted electroretinogram 33 HP:0007688

Clinical features from OMIM:

608194

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 13 according to GeneCards Suite gene sharing:

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.53 SUPT16H
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.53 RPGRIP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.53 RPGRIP1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.53 RPGRIP1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.53 SUPT16H
6 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.53 RPGRIP1 SUPT16H
7 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.53 SUPT16H
8 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.53 RPGRIP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.53 SUPT16H
10 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.53 SUPT16H
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.53 SUPT16H
12 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.53 RPGRIP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.53 RPGRIP1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.53 SUPT16H
15 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.53 RPGRIP1

Drugs & Therapeutics for Cone-Rod Dystrophy 13

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 13

Genetic Tests for Cone-Rod Dystrophy 13

Genetic tests related to Cone-Rod Dystrophy 13:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 13 30 RPGRIP1

Anatomical Context for Cone-Rod Dystrophy 13

MalaCards organs/tissues related to Cone-Rod Dystrophy 13:

42
Eye

Publications for Cone-Rod Dystrophy 13

Variations for Cone-Rod Dystrophy 13

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 13:

76
# Symbol AA change Variation ID SNP ID
1 RPGRIP1 p.Ala547Ser VAR_017831 rs10151259
2 RPGRIP1 p.Arg827Leu VAR_017834 rs28937883

ClinVar genetic disease variations for Cone-Rod Dystrophy 13:

6 (show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPGRIP1 NM_020366.3(RPGRIP1): c.154C> T (p.Arg52Ter) single nucleotide variant Pathogenic rs192003551 GRCh37 Chromosome 14, 21762904: 21762904
2 RPGRIP1 NM_020366.3(RPGRIP1): c.154C> T (p.Arg52Ter) single nucleotide variant Pathogenic rs192003551 GRCh38 Chromosome 14, 21294745: 21294745
3 RPGRIP1 NM_020366.3(RPGRIP1): c.2896delG (p.Asp966Ilefs) deletion Likely pathogenic rs863224913 GRCh38 Chromosome 14, 21328424: 21328424
4 RPGRIP1 NM_020366.3(RPGRIP1): c.2896delG (p.Asp966Ilefs) deletion Likely pathogenic rs863224913 GRCh37 Chromosome 14, 21796583: 21796583
5 RPGRIP1 NM_020366.3(RPGRIP1): c.2480G> T (p.Arg827Leu) single nucleotide variant Pathogenic rs28937883 GRCh37 Chromosome 14, 21794102: 21794102
6 RPGRIP1 NM_020366.3(RPGRIP1): c.2480G> T (p.Arg827Leu) single nucleotide variant Pathogenic rs28937883 GRCh38 Chromosome 14, 21325943: 21325943
7 RPGRIP1 NM_020366.3(RPGRIP1): c.1639G> T (p.Ala547Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs10151259 GRCh37 Chromosome 14, 21790040: 21790040
8 RPGRIP1 NM_020366.3(RPGRIP1): c.1639G> T (p.Ala547Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs10151259 GRCh38 Chromosome 14, 21321881: 21321881
9 RPGRIP1 NM_020366.3(RPGRIP1): c.3341A> G (p.Asp1114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs17103671 GRCh37 Chromosome 14, 21811196: 21811196
10 RPGRIP1 NM_020366.3(RPGRIP1): c.3341A> G (p.Asp1114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs17103671 GRCh38 Chromosome 14, 21343037: 21343037
11 RPGRIP1 NM_020366.3(RPGRIP1): c.256C> T (p.Arg86Trp) single nucleotide variant Benign rs62646879 GRCh37 Chromosome 14, 21769162: 21769162
12 RPGRIP1 NM_020366.3(RPGRIP1): c.256C> T (p.Arg86Trp) single nucleotide variant Benign rs62646879 GRCh38 Chromosome 14, 21301003: 21301003
13 RPGRIP1 NM_020366.3(RPGRIP1): c.3546C> T (p.Asp1182=) single nucleotide variant Conflicting interpretations of pathogenicity rs34116882 GRCh37 Chromosome 14, 21813285: 21813285
14 RPGRIP1 NM_020366.3(RPGRIP1): c.3546C> T (p.Asp1182=) single nucleotide variant Conflicting interpretations of pathogenicity rs34116882 GRCh38 Chromosome 14, 21345126: 21345126
15 RPGRIP1 NM_020366.3(RPGRIP1): c.2284C> T (p.Leu762=) single nucleotide variant Conflicting interpretations of pathogenicity rs145896974 GRCh37 Chromosome 14, 21793459: 21793459
16 RPGRIP1 NM_020366.3(RPGRIP1): c.2284C> T (p.Leu762=) single nucleotide variant Conflicting interpretations of pathogenicity rs145896974 GRCh38 Chromosome 14, 21325300: 21325300
17 RPGRIP1 NM_020366.3(RPGRIP1): c.3719G> A (p.Gly1240Glu) single nucleotide variant Benign/Likely benign rs34725281 GRCh38 Chromosome 14, 21348273: 21348273
18 RPGRIP1 NM_020366.3(RPGRIP1): c.3719G> A (p.Gly1240Glu) single nucleotide variant Benign/Likely benign rs34725281 GRCh37 Chromosome 14, 21816432: 21816432
19 RPGRIP1 NM_020366.3(RPGRIP1): c.2292G> A (p.Ala764=) single nucleotide variant Benign rs35207255 GRCh38 Chromosome 14, 21325308: 21325308
20 RPGRIP1 NM_020366.3(RPGRIP1): c.2292G> A (p.Ala764=) single nucleotide variant Benign rs35207255 GRCh37 Chromosome 14, 21793467: 21793467
21 RPGRIP1 NM_020366.3(RPGRIP1): c.2878G> C (p.Ala960Pro) single nucleotide variant Benign rs35810926 GRCh37 Chromosome 14, 21795949: 21795949
22 RPGRIP1 NM_020366.3(RPGRIP1): c.2878G> C (p.Ala960Pro) single nucleotide variant Benign rs35810926 GRCh38 Chromosome 14, 21327790: 21327790
23 RPGRIP1 NM_020366.3(RPGRIP1): c.3766C> G (p.Leu1256Val) single nucleotide variant Uncertain significance rs1405508889 GRCh37 Chromosome 14, 21819280: 21819280
24 RPGRIP1 NM_020366.3(RPGRIP1): c.3766C> G (p.Leu1256Val) single nucleotide variant Uncertain significance rs1405508889 GRCh38 Chromosome 14, 21351121: 21351121
25 RPGRIP1 NM_020366.3(RPGRIP1): c.2017C> T (p.Gln673Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 21793031: 21793031
26 RPGRIP1 NM_020366.3(RPGRIP1): c.2017C> T (p.Gln673Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21324872: 21324872
27 RPGRIP1 NM_020366.3(RPGRIP1): c.938G> A (p.Gly313Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 21779990: 21779990
28 RPGRIP1 NM_020366.3(RPGRIP1): c.938G> A (p.Gly313Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 21311831: 21311831
29 RPGRIP1 NM_020366.3(RPGRIP1): c.931-2A> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 21779981: 21779981
30 RPGRIP1 NM_020366.3(RPGRIP1): c.931-2A> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 21311822: 21311822
31 RPGRIP1 NM_020366.3(RPGRIP1): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21325318: 21325318
32 RPGRIP1 NM_020366.3(RPGRIP1): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 21793477: 21793477
33 RPGRIP1 NM_020366.3(RPGRIP1): c.3617+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 14, 21813357: 21813357
34 RPGRIP1 NM_020366.3(RPGRIP1): c.3617+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21345198: 21345198

Expression for Cone-Rod Dystrophy 13

Search GEO for disease gene expression data for Cone-Rod Dystrophy 13.

Pathways for Cone-Rod Dystrophy 13

GO Terms for Cone-Rod Dystrophy 13

Sources for Cone-Rod Dystrophy 13

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