CORD13
MCID: CNR024
MIFTS: 22

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 57 12 75 29 13 6 73
Cord13 57 12 75
Dystrophy, Cone-Rod, Type 13 40

Characteristics:

HPO:

32
cone-rod dystrophy 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608194
Disease Ontology 12 DOID:0111016
MedGen 42 C2750720
MeSH 44 D058499
UMLS 73 C2750720

Summaries for Cone-Rod Dystrophy 13

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

608194

Human phenotypes related to Cone-Rod Dystrophy 13:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 reduced visual acuity 32 HP:0007663
3 abnormality of color vision 32 HP:0000551
4 macular degeneration 32 HP:0000608
5 cone/cone-rod dystrophy 32 HP:0000548
6 undetectable light- and dark-adapted electroretinogram 32 HP:0007688

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

26 (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 29 RPGRIP1

Anatomical Context for Cone-Rod Dystrophy 13

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

41
Eye

Publications for Cone-Rod Dystrophy 13

Variations for Cone-Rod Dystrophy 13

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

75
# 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.2480G> T (p.Arg827Leu) single nucleotide variant Pathogenic rs28937883 GRCh37 Chromosome 14, 21794102: 21794102
2 RPGRIP1 NM_020366.3(RPGRIP1): c.2480G> T (p.Arg827Leu) single nucleotide variant Pathogenic rs28937883 GRCh38 Chromosome 14, 21325943: 21325943
3 RPGRIP1 NM_020366.3(RPGRIP1): c.1639G> T (p.Ala547Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs10151259 GRCh37 Chromosome 14, 21790040: 21790040
4 RPGRIP1 NM_020366.3(RPGRIP1): c.1639G> T (p.Ala547Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs10151259 GRCh38 Chromosome 14, 21321881: 21321881
5 RPGRIP1 NM_020366.3(RPGRIP1): c.3341A> G (p.Asp1114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs17103671 GRCh37 Chromosome 14, 21811196: 21811196
6 RPGRIP1 NM_020366.3(RPGRIP1): c.3341A> G (p.Asp1114Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs17103671 GRCh38 Chromosome 14, 21343037: 21343037
7 RPGRIP1 NM_020366.3(RPGRIP1): c.256C> T (p.Arg86Trp) single nucleotide variant Benign rs62646879 GRCh37 Chromosome 14, 21769162: 21769162
8 RPGRIP1 NM_020366.3(RPGRIP1): c.256C> T (p.Arg86Trp) single nucleotide variant Benign rs62646879 GRCh38 Chromosome 14, 21301003: 21301003
9 RPGRIP1 NM_020366.3(RPGRIP1): c.3546C> T (p.Asp1182=) single nucleotide variant Conflicting interpretations of pathogenicity rs34116882 GRCh37 Chromosome 14, 21813285: 21813285
10 RPGRIP1 NM_020366.3(RPGRIP1): c.3546C> T (p.Asp1182=) single nucleotide variant Conflicting interpretations of pathogenicity rs34116882 GRCh38 Chromosome 14, 21345126: 21345126
11 RPGRIP1 NM_020366.3(RPGRIP1): c.154C> T (p.Arg52Ter) single nucleotide variant Pathogenic rs192003551 GRCh37 Chromosome 14, 21762904: 21762904
12 RPGRIP1 NM_020366.3(RPGRIP1): c.154C> T (p.Arg52Ter) single nucleotide variant Pathogenic rs192003551 GRCh38 Chromosome 14, 21294745: 21294745
13 RPGRIP1 NM_020366.3(RPGRIP1): c.3749-2A> G single nucleotide variant Pathogenic rs376517859 GRCh37 Chromosome 14, 21819261: 21819261
14 RPGRIP1 NM_020366.3(RPGRIP1): c.3749-2A> G single nucleotide variant Pathogenic rs376517859 GRCh38 Chromosome 14, 21351102: 21351102
15 RPGRIP1 NM_020366.3(RPGRIP1): c.2896delG (p.Asp966Ilefs) deletion Likely pathogenic rs863224913 GRCh38 Chromosome 14, 21328424: 21328424
16 RPGRIP1 NM_020366.3(RPGRIP1): c.2896delG (p.Asp966Ilefs) deletion Likely pathogenic rs863224913 GRCh37 Chromosome 14, 21796583: 21796583
17 RPGRIP1 NM_020366.3(RPGRIP1): c.2284C> T (p.Leu762=) single nucleotide variant Conflicting interpretations of pathogenicity rs145896974 GRCh37 Chromosome 14, 21793459: 21793459
18 RPGRIP1 NM_020366.3(RPGRIP1): c.2284C> T (p.Leu762=) single nucleotide variant Conflicting interpretations of pathogenicity rs145896974 GRCh38 Chromosome 14, 21325300: 21325300
19 RPGRIP1 NM_020366.3(RPGRIP1): c.3719G> A (p.Gly1240Glu) single nucleotide variant Benign/Likely benign rs34725281 GRCh38 Chromosome 14, 21348273: 21348273
20 RPGRIP1 NM_020366.3(RPGRIP1): c.3719G> A (p.Gly1240Glu) single nucleotide variant Benign/Likely benign rs34725281 GRCh37 Chromosome 14, 21816432: 21816432
21 RPGRIP1 NM_020366.3(RPGRIP1): c.2292G> A (p.Ala764=) single nucleotide variant Benign rs35207255 GRCh37 Chromosome 14, 21793467: 21793467
22 RPGRIP1 NM_020366.3(RPGRIP1): c.2292G> A (p.Ala764=) single nucleotide variant Benign rs35207255 GRCh38 Chromosome 14, 21325308: 21325308
23 RPGRIP1 NM_020366.3(RPGRIP1): c.2878G> C (p.Ala960Pro) single nucleotide variant Benign rs35810926 GRCh37 Chromosome 14, 21795949: 21795949
24 RPGRIP1 NM_020366.3(RPGRIP1): c.2878G> C (p.Ala960Pro) single nucleotide variant Benign rs35810926 GRCh38 Chromosome 14, 21327790: 21327790
25 RPGRIP1 NM_020366.3(RPGRIP1): c.3766C> G (p.Leu1256Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 21819280: 21819280
26 RPGRIP1 NM_020366.3(RPGRIP1): c.3766C> G (p.Leu1256Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 21351121: 21351121
27 RPGRIP1 NM_020366.3(RPGRIP1): c.2017C> T (p.Gln673Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 21793031: 21793031
28 RPGRIP1 NM_020366.3(RPGRIP1): c.2017C> T (p.Gln673Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21324872: 21324872
29 RPGRIP1 NM_020366.3(RPGRIP1): c.938G> A (p.Gly313Glu) single nucleotide variant Uncertain significance rs755322533 GRCh37 Chromosome 14, 21779990: 21779990
30 RPGRIP1 NM_020366.3(RPGRIP1): c.938G> A (p.Gly313Glu) single nucleotide variant Uncertain significance rs755322533 GRCh38 Chromosome 14, 21311831: 21311831
31 RPGRIP1 NM_020366.3(RPGRIP1): c.931-2A> G single nucleotide variant Likely pathogenic rs374188857 GRCh38 Chromosome 14, 21311822: 21311822
32 RPGRIP1 NM_020366.3(RPGRIP1): c.931-2A> G single nucleotide variant Likely pathogenic rs374188857 GRCh37 Chromosome 14, 21779981: 21779981
33 RPGRIP1 NM_020366.3(RPGRIP1): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic rs75459701 GRCh38 Chromosome 14, 21325318: 21325318
34 RPGRIP1 NM_020366.3(RPGRIP1): c.2302C> T (p.Arg768Ter) single nucleotide variant Pathogenic rs75459701 GRCh37 Chromosome 14, 21793477: 21793477

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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