CORD11
MCID: CNR012
MIFTS: 28

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 56 12 73 29 13 6 15 71
Cord11 56 12 73
Dystrophy, Cone-Rod, Type 11 39

Characteristics:

OMIM:

56
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 56 610381
OMIM Phenotypic Series 56 PS120970
MeSH 43 D058499
MedGen 41 C1835865
UMLS 71 C1835865

Summaries for Cone-Rod Dystrophy 11

UniProtKB/Swiss-Prot : 73 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, bone and retina, 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:

56
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

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, Bone, Retina, Testes

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. 56 6
25789692 2015
2
QRX, a novel homeobox gene, modulates photoreceptor gene expression. 56 6
15028672 2004
3
Cone rod dystrophies. 6
17270046 2007
4
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000

Variations for Cone-Rod Dystrophy 11

ClinVar genetic disease variations for Cone-Rod Dystrophy 11:

6 (show top 50) (show all 72) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RAX2 NM_032753.4(RAX2):c.409G>C (p.Gly137Arg)SNV Pathogenic 1241 rs121908281 19:3770765-3770765 19:3770767-3770767
2 RAX2 NM_032753.4(RAX2):c.411_416CCCGGG[3] (p.138_139PG[3])short repeat Pathogenic 1242 rs549932754 19:3770751-3770752 19:3770753-3770754
3 RAX2 NM_032753.4(RAX2):c.465_475del (p.Ala156fs)deletion Likely pathogenic 208124 rs886041039 19:3770699-3770709 19:3770701-3770711
4 RAX2 NM_032753.4(RAX2):c.432G>A (p.Ala144=)SNV Conflicting interpretations of pathogenicity 262101 rs149918940 19:3770742-3770742 19:3770744-3770744
5 RAX2 NM_001319074.4(RAX2):c.131G>A (p.Arg44Gln)SNV Conflicting interpretations of pathogenicity 892560 19:3771610-3771610 19:3771612-3771612
6 RAX2 NM_001319074.4(RAX2):c.49G>C (p.Gly17Arg)SNV Conflicting interpretations of pathogenicity 889200 19:3771692-3771692 19:3771694-3771694
7 RAX2 NM_001319074.4(RAX2):c.385G>A (p.Val129Met)SNV Conflicting interpretations of pathogenicity 889123 19:3770789-3770789 19:3770791-3770791
8 RAX2 NM_032753.4(RAX2):c.156G>A (p.Pro52=)SNV Conflicting interpretations of pathogenicity 328969 rs141804618 19:3771585-3771585 19:3771587-3771587
9 RAX2 NM_032753.4(RAX2):c.260G>A (p.Arg87Gln)SNV Conflicting interpretations of pathogenicity 1240 rs121908280 19:3770914-3770914 19:3770916-3770916
10 RAX2 NM_032753.4(RAX2):c.19G>A (p.Glu7Lys)SNV Conflicting interpretations of pathogenicity 328972 rs556179949 19:3771722-3771722 19:3771724-3771724
11 RAX2 NM_032753.4(RAX2):c.76A>C (p.Lys26Gln)SNV Conflicting interpretations of pathogenicity 328971 rs370364475 19:3771665-3771665 19:3771667-3771667
12 RAX2 NM_032753.4(RAX2):c.-27G>TSNV Uncertain significance 328976 rs563046576 19:3772178-3772178 19:3772180-3772180
13 RAX2 NM_032753.4(RAX2):c.-60C>ASNV Uncertain significance 328978 rs886054371 19:3772211-3772211 19:3772213-3772213
14 RAX2 NM_032753.4(RAX2):c.*1523T>CSNV Uncertain significance 328940 rs775609621 19:3769096-3769096 19:3769098-3769098
15 RAX2 NM_032753.4(RAX2):c.*88C>TSNV Uncertain significance 328963 rs886054369 19:3770531-3770531 19:3770533-3770533
16 RAX2 NM_032753.4(RAX2):c.*7C>TSNV Uncertain significance 328965 rs781395665 19:3770612-3770612 19:3770614-3770614
17 RAX2 NM_032753.4(RAX2):c.217-8C>ASNV Uncertain significance 328967 rs79588413 19:3770965-3770965 19:3770967-3770967
18 RAX2 NM_032753.4(RAX2):c.83G>A (p.Arg28Gln)SNV Uncertain significance 328970 rs199546013 19:3771658-3771658 19:3771660-3771660
19 RAX2 NM_032753.4(RAX2):c.*972T>ASNV Uncertain significance 328949 rs886054366 19:3769647-3769647 19:3769649-3769649
20 RAX2 NM_032753.4(RAX2):c.-10+8C>TSNV Uncertain significance 328973 rs886054370 19:3772153-3772153 19:3772155-3772155
21 RAX2 NM_001319074.4(RAX2):c.320C>T (p.Pro107Leu)SNV Uncertain significance 889124 19:3770854-3770854 19:3770856-3770856
22 RAX2 NM_001319074.4(RAX2):c.134C>T (p.Ala45Val)SNV Uncertain significance 892559 19:3771607-3771607 19:3771609-3771609
23 RAX2 NM_032753.4(RAX2):c.*949C>TSNV Uncertain significance 328950 rs886054367 19:3769670-3769670 19:3769672-3769672
24 RAX2 NM_032753.4(RAX2):c.*624G>ASNV Uncertain significance 328959 rs886054368 19:3769995-3769995 19:3769997-3769997
25 RAX2 NM_001319074.4(RAX2):c.-275G>ASNV Uncertain significance 889884 19:3772167-3772167 19:3772169-3772169
26 RAX2 NM_001319074.4(RAX2):c.217-11G>CSNV Uncertain significance 891363 19:3770968-3770968 19:3770970-3770970
27 RAX2 NM_032753.4(RAX2):c.275C>T (p.Ser92Leu)SNV Uncertain significance 599132 rs754730849 19:3770899-3770899 19:3770901-3770901
28 RAX2 NM_032753.4(RAX2):c.92G>A (p.Arg31His)SNV Uncertain significance 635426 19:3771649-3771649 19:3771651-3771651
29 RAX2 NM_001319074.4(RAX2):c.*1490A>GSNV Uncertain significance 890643 19:3769129-3769129 19:3769131-3769131
30 RAX2 NM_032753.4(RAX2):c.*1483C>TSNV Uncertain significance 328941 rs886054363 19:3769136-3769136 19:3769138-3769138
31 RAX2 NM_001319074.4(RAX2):c.*918G>ASNV Uncertain significance 888997 19:3769701-3769701 19:3769703-3769703
32 RAX2 NM_001319074.4(RAX2):c.*897C>TSNV Uncertain significance 888998 19:3769722-3769722 19:3769724-3769724
33 RAX2 NM_001319074.4(RAX2):c.*784C>TSNV Uncertain significance 889690 19:3769835-3769835 19:3769837-3769837
34 RAX2 NM_001319074.4(RAX2):c.*776C>TSNV Uncertain significance 889691 19:3769843-3769843 19:3769845-3769845
35 RAX2 NM_001319074.4(RAX2):c.*751G>ASNV Uncertain significance 891248 19:3769868-3769868 19:3769870-3769870
36 RAX2 NM_001319074.4(RAX2):c.*687A>GSNV Uncertain significance 891249 19:3769932-3769932 19:3769934-3769934
37 RAX2 NM_001319074.4(RAX2):c.*667G>ASNV Uncertain significance 892438 19:3769952-3769952 19:3769954-3769954
38 RAX2 NM_001319074.4(RAX2):c.*552C>TSNV Uncertain significance 889062 19:3770067-3770067 19:3770069-3770069
39 RAX2 NM_001319074.4(RAX2):c.*501C>TSNV Uncertain significance 889063 19:3770118-3770118 19:3770120-3770120
40 RAX2 NM_001319074.4(RAX2):c.*368C>TSNV Uncertain significance 889754 19:3770251-3770251 19:3770253-3770253
41 RAX2 NM_001319074.4(RAX2):c.*263C>TSNV Uncertain significance 889755 19:3770356-3770356 19:3770358-3770358
42 RAX2 NM_001319074.4(RAX2):c.*248C>TSNV Uncertain significance 889756 19:3770371-3770371 19:3770373-3770373
43 RAX2 NM_001319074.4(RAX2):c.*201C>TSNV Uncertain significance 889757 19:3770418-3770418 19:3770420-3770420
44 RAX2 NM_001319074.4(RAX2):c.*195G>ASNV Uncertain significance 891296 19:3770424-3770424 19:3770426-3770426
45 RAX2 NM_001319074.4(RAX2):c.*194C>GSNV Uncertain significance 891297 19:3770425-3770425 19:3770427-3770427
46 RAX2 NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly)SNV Uncertain significance 892494 19:3770639-3770639 19:3770641-3770641
47 RAX2 NM_001319074.4(RAX2):c.446A>G (p.His149Arg)SNV Uncertain significance 892495 19:3770728-3770728 19:3770730-3770730
48 RAX2 NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu)SNV Uncertain significance 889122 19:3770761-3770761 19:3770763-3770763
49 RAX2 NM_032753.4(RAX2):c.*1054C>TSNV Benign/Likely benign 328948 rs368356816 19:3769565-3769565 19:3769567-3769567
50 RAX2 NM_001319074.4(RAX2):c.*1169G>ASNV Benign/Likely benign 891193 19:3769450-3769450 19:3769452-3769452

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

73
# 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

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