CORD11
MCID: CNR012
MIFTS: 27

Cone-Rod Dystrophy 11 (CORD11)

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

Aliases & Classifications for Cone-Rod Dystrophy 11

MalaCards integrated aliases for Cone-Rod Dystrophy 11:

Name: Cone-Rod Dystrophy 11 57 12 72 29 13 6 15 70
Cord11 57 12 72
Dystrophy, Cone-Rod, Type 11 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
based on detailed clinical description of 1 family
variable age at onset of symptoms, ranging from the second to seventh decades of life


HPO:

31
cone-rod dystrophy 11:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111018
OMIM® 57 610381
OMIM Phenotypic Series 57 PS120970
MeSH 44 D000071700
MedGen 41 C1835865
UMLS 70 C1835865

Summaries for Cone-Rod Dystrophy 11

UniProtKB/Swiss-Prot : 72 Cone-rod dystrophy 11: 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 11, is also known as cord11. An important gene associated with Cone-Rod Dystrophy 11 is RAX2 (Retina And Anterior Neural Fold Homeobox 2). Affiliated tissues include eye, retina and bone, and related phenotypes are photophobia and pallor

Disease Ontology : 12 A cone-rod dystrophy that has material basis in heterozygous mutation in the RAX2 gene on chromosome 19p13.

More information from OMIM: 610381 PS120970

Related Diseases for Cone-Rod Dystrophy 11

Symptoms & Phenotypes for Cone-Rod Dystrophy 11

Human phenotypes related to Cone-Rod Dystrophy 11:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 occasional (7.5%) HP:0000613
2 pallor 31 HP:0000980
3 macular degeneration 31 HP:0000608
4 cone/cone-rod dystrophy 31 HP:0000548
5 macular atrophy 31 HP:0007401
6 slow decrease in visual acuity 31 HP:0007924
7 bull's eye maculopathy 31 HP:0011504

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
bull's eye maculopathy
photophobia (in some patients)
decreased visual acuity, slowly progressive
decreased night vision (in some patients)
difficulty with color discrimination (in some patients)
more

Clinical features from OMIM®:

610381 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 11 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00249-S 8.92 SERPINI2
2 Decreased viability GR00381-A-1 8.92 RAX2 SERPINI2
3 Decreased viability GR00402-S-2 8.92 RAX2

Drugs & Therapeutics for Cone-Rod Dystrophy 11

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 11

Genetic Tests for Cone-Rod Dystrophy 11

Genetic tests related to Cone-Rod Dystrophy 11:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 11 29 RAX2

Anatomical Context for Cone-Rod Dystrophy 11

MalaCards organs/tissues related to Cone-Rod Dystrophy 11:

40
Eye, Retina, Bone

Publications for Cone-Rod Dystrophy 11

Articles related to Cone-Rod Dystrophy 11:

# Title Authors PMID Year
1
Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation. 6 57
25789692 2015
2
QRX, a novel homeobox gene, modulates photoreceptor gene expression. 57 6
15028672 2004

Variations for Cone-Rod Dystrophy 11

ClinVar genetic disease variations for Cone-Rod Dystrophy 11:

6 (show top 50) (show all 73)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAX2 NM_032753.4(RAX2):c.409G>C (p.Gly137Arg) SNV Pathogenic 1241 rs121908281 GRCh37: 19:3770765-3770765
GRCh38: 19:3770767-3770767
2 RAX2 NM_032753.4(RAX2):c.411_416CCCGGG[3] (p.138_139PG[3]) Microsatellite Pathogenic 1242 rs549932754 GRCh37: 19:3770751-3770752
GRCh38: 19:3770753-3770754
3 RAX2 NM_032753.4(RAX2):c.465_475del (p.Ala156fs) Deletion Pathogenic 208124 rs886041039 GRCh37: 19:3770699-3770709
GRCh38: 19:3770701-3770711
4 RAX2 NM_001319074.4(RAX2):c.-50dup Duplication Pathogenic 1034160 GRCh37: 19:3771789-3771790
GRCh38: 19:3771791-3771792
5 RAX2 NM_001319074.4(RAX2):c.134C>T (p.Ala45Val) SNV Uncertain significance 892559 GRCh37: 19:3771607-3771607
GRCh38: 19:3771609-3771609
6 RAX2 NM_001319074.4(RAX2):c.*751G>A SNV Uncertain significance 891248 GRCh37: 19:3769868-3769868
GRCh38: 19:3769870-3769870
7 RAX2 NM_001319074.4(RAX2):c.*687A>G SNV Uncertain significance 891249 GRCh37: 19:3769932-3769932
GRCh38: 19:3769934-3769934
8 RAX2 NM_001319074.4(RAX2):c.*195G>A SNV Uncertain significance 891296 GRCh37: 19:3770424-3770424
GRCh38: 19:3770426-3770426
9 RAX2 NM_001319074.4(RAX2):c.*194C>G SNV Uncertain significance 891297 GRCh37: 19:3770425-3770425
GRCh38: 19:3770427-3770427
10 RAX2 NM_001319074.4(RAX2):c.217-11G>C SNV Uncertain significance 891363 GRCh37: 19:3770968-3770968
GRCh38: 19:3770970-3770970
11 RAX2 NM_001319074.4(RAX2):c.*667G>A SNV Uncertain significance 892438 GRCh37: 19:3769952-3769952
GRCh38: 19:3769954-3769954
12 RAX2 NM_001319074.4(RAX2):c.-275G>A SNV Uncertain significance 889884 GRCh37: 19:3772167-3772167
GRCh38: 19:3772169-3772169
13 RAX2 NM_001319074.4(RAX2):c.*1490A>G SNV Uncertain significance 890643 GRCh37: 19:3769129-3769129
GRCh38: 19:3769131-3769131
14 RAX2 NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly) SNV Uncertain significance 892494 GRCh37: 19:3770639-3770639
GRCh38: 19:3770641-3770641
15 RAX2 NM_001319074.4(RAX2):c.446A>G (p.His149Arg) SNV Uncertain significance 892495 GRCh37: 19:3770728-3770728
GRCh38: 19:3770730-3770730
16 RAX2 NM_032753.4(RAX2):c.*949C>T SNV Uncertain significance 328950 rs886054367 GRCh37: 19:3769670-3769670
GRCh38: 19:3769672-3769672
17 RAX2 NM_032753.4(RAX2):c.275C>T (p.Ser92Leu) SNV Uncertain significance 599132 rs754730849 GRCh37: 19:3770899-3770899
GRCh38: 19:3770901-3770901
18 RAX2 NM_032753.4(RAX2):c.92G>A (p.Arg31His) SNV Uncertain significance 635426 rs373009969 GRCh37: 19:3771649-3771649
GRCh38: 19:3771651-3771651
19 RAX2 NM_001319074.4(RAX2):c.*918G>A SNV Uncertain significance 888997 GRCh37: 19:3769701-3769701
GRCh38: 19:3769703-3769703
20 RAX2 NM_001319074.4(RAX2):c.*897C>T SNV Uncertain significance 888998 GRCh37: 19:3769722-3769722
GRCh38: 19:3769724-3769724
21 RAX2 NM_001319074.4(RAX2):c.*552C>T SNV Uncertain significance 889062 GRCh37: 19:3770067-3770067
GRCh38: 19:3770069-3770069
22 RAX2 NM_001319074.4(RAX2):c.*501C>T SNV Uncertain significance 889063 GRCh37: 19:3770118-3770118
GRCh38: 19:3770120-3770120
23 RAX2 NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu) SNV Uncertain significance 889122 GRCh37: 19:3770761-3770761
GRCh38: 19:3770763-3770763
24 RAX2 NM_032753.4(RAX2):c.*88C>T SNV Uncertain significance 328963 rs886054369 GRCh37: 19:3770531-3770531
GRCh38: 19:3770533-3770533
25 RAX2 NM_032753.4(RAX2):c.*1483C>T SNV Uncertain significance 328941 rs886054363 GRCh37: 19:3769136-3769136
GRCh38: 19:3769138-3769138
26 RAX2 NM_001319074.4(RAX2):c.320C>T (p.Pro107Leu) SNV Uncertain significance 889124 GRCh37: 19:3770854-3770854
GRCh38: 19:3770856-3770856
27 RAX2 NM_001319074.4(RAX2):c.*784C>T SNV Uncertain significance 889690 GRCh37: 19:3769835-3769835
GRCh38: 19:3769837-3769837
28 RAX2 NM_001319074.4(RAX2):c.*776C>T SNV Uncertain significance 889691 GRCh37: 19:3769843-3769843
GRCh38: 19:3769845-3769845
29 RAX2 NM_001319074.4(RAX2):c.*368C>T SNV Uncertain significance 889754 GRCh37: 19:3770251-3770251
GRCh38: 19:3770253-3770253
30 RAX2 NM_001319074.4(RAX2):c.*263C>T SNV Uncertain significance 889755 GRCh37: 19:3770356-3770356
GRCh38: 19:3770358-3770358
31 RAX2 NM_001319074.4(RAX2):c.*248C>T SNV Uncertain significance 889756 GRCh37: 19:3770371-3770371
GRCh38: 19:3770373-3770373
32 RAX2 NM_001319074.4(RAX2):c.*201C>T SNV Uncertain significance 889757 GRCh37: 19:3770418-3770418
GRCh38: 19:3770420-3770420
33 RAX2 NM_032753.4(RAX2):c.432G>A (p.Ala144=) SNV Uncertain significance 262101 rs149918940 GRCh37: 19:3770742-3770742
GRCh38: 19:3770744-3770744
34 RAX2 NM_032753.4(RAX2):c.-10+8C>T SNV Uncertain significance 328973 rs886054370 GRCh37: 19:3772153-3772153
GRCh38: 19:3772155-3772155
35 RAX2 NM_032753.4(RAX2):c.-27G>T SNV Uncertain significance 328976 rs563046576 GRCh37: 19:3772178-3772178
GRCh38: 19:3772180-3772180
36 RAX2 NM_032753.4(RAX2):c.*972T>A SNV Uncertain significance 328949 rs886054366 GRCh37: 19:3769647-3769647
GRCh38: 19:3769649-3769649
37 RAX2 NM_032753.4(RAX2):c.*1523T>C SNV Uncertain significance 328940 rs775609621 GRCh37: 19:3769096-3769096
GRCh38: 19:3769098-3769098
38 RAX2 NM_032753.4(RAX2):c.83G>A (p.Arg28Gln) SNV Uncertain significance 328970 rs199546013 GRCh37: 19:3771658-3771658
GRCh38: 19:3771660-3771660
39 RAX2 NM_032753.4(RAX2):c.-60C>A SNV Uncertain significance 328978 rs886054371 GRCh37: 19:3772211-3772211
GRCh38: 19:3772213-3772213
40 RAX2 NM_032753.4(RAX2):c.*624G>A SNV Uncertain significance 328959 rs886054368 GRCh37: 19:3769995-3769995
GRCh38: 19:3769997-3769997
41 RAX2 NM_032753.4(RAX2):c.217-8C>A SNV Uncertain significance 328967 rs79588413 GRCh37: 19:3770965-3770965
GRCh38: 19:3770967-3770967
42 RAX2 NM_032753.4(RAX2):c.*7C>T SNV Uncertain significance 328965 rs781395665 GRCh37: 19:3770612-3770612
GRCh38: 19:3770614-3770614
43 RAX2 NM_032753.4(RAX2):c.19G>A (p.Glu7Lys) SNV Likely benign 328972 rs556179949 GRCh37: 19:3771722-3771722
GRCh38: 19:3771724-3771724
44 RAX2 NM_032753.4(RAX2):c.76A>C (p.Lys26Gln) SNV Likely benign 328971 rs370364475 GRCh37: 19:3771665-3771665
GRCh38: 19:3771667-3771667
45 RAX2 NM_032753.4(RAX2):c.260G>A (p.Arg87Gln) SNV Likely benign 1240 rs121908280 GRCh37: 19:3770914-3770914
GRCh38: 19:3770916-3770916
46 RAX2 NM_001319074.4(RAX2):c.49G>C (p.Gly17Arg) SNV Likely benign 889200 GRCh37: 19:3771692-3771692
GRCh38: 19:3771694-3771694
47 RAX2 NM_001319074.4(RAX2):c.385G>A (p.Val129Met) SNV Likely benign 889123 GRCh37: 19:3770789-3770789
GRCh38: 19:3770791-3770791
48 RAX2 NM_001319074.4(RAX2):c.131G>A (p.Arg44Gln) SNV Likely benign 892560 GRCh37: 19:3771610-3771610
GRCh38: 19:3771612-3771612
49 RAX2 NM_001319074.4(RAX2):c.*1169G>A SNV Benign 891193 GRCh37: 19:3769450-3769450
GRCh38: 19:3769452-3769452
50 RAX2 NM_001319074.4(RAX2):c.*647T>C SNV Benign 892439 GRCh37: 19:3769972-3769972
GRCh38: 19:3769974-3769974

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 11:

72
# Symbol AA change Variation ID SNP ID
1 RAX2 p.Gly137Arg VAR_031908 rs121908281

Expression for Cone-Rod Dystrophy 11

Search GEO for disease gene expression data for Cone-Rod Dystrophy 11.

Pathways for Cone-Rod Dystrophy 11

GO Terms for Cone-Rod Dystrophy 11

Sources for Cone-Rod Dystrophy 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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