CORD11
MCID: CNR012
MIFTS: 22

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 58 12 76 30 13 6 74
Cord11 58 12 76
Dystrophy, Cone-Rod, Type 11 41

Characteristics:

OMIM:

58
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:

33
cone-rod dystrophy 11:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cone-Rod Dystrophy 11

UniProtKB/Swiss-Prot : 76 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 testes, 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.

Description from OMIM: 610381

Related Diseases for Cone-Rod Dystrophy 11

Symptoms & Phenotypes for Cone-Rod Dystrophy 11

Human phenotypes related to Cone-Rod Dystrophy 11:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 photophobia 33 occasional (7.5%) HP:0000613
2 pallor 33 HP:0000980
3 macular degeneration 33 HP:0000608
4 slow decrease in visual acuity 33 HP:0007924
5 cone/cone-rod dystrophy 33 HP:0000548
6 macular atrophy 33 HP:0007401
7 bull's eye maculopathy 33 HP:0011504

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
photophobia (in some patients)
decreased visual acuity, slowly progressive
decreased night vision (in some patients)
difficulty with color discrimination (in some patients)
decreased pericentral vision
more

Clinical features from OMIM:

610381

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 30 RAX2

Anatomical Context for Cone-Rod Dystrophy 11

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

42
Eye, Bone, Testes, Retina

Publications for Cone-Rod Dystrophy 11

Variations for Cone-Rod Dystrophy 11

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

76
# Symbol AA change Variation ID SNP ID
1 RAX2 p.Gly137Arg VAR_031908 rs121908281

ClinVar genetic disease variations for Cone-Rod Dystrophy 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RAX2 NM_032753.3(RAX2): c.465_475delCGCAGATGGCT (p.Ala156Argfs) deletion Pathogenic rs886041039 GRCh38 Chromosome 19, 3770701: 3770711
2 RAX2 NM_032753.3(RAX2): c.465_475delCGCAGATGGCT (p.Ala156Argfs) deletion Pathogenic rs886041039 GRCh37 Chromosome 19, 3770699: 3770709
3 RAX2 NM_032753.3(RAX2): c.409G> C (p.Gly137Arg) single nucleotide variant Pathogenic rs121908281 GRCh37 Chromosome 19, 3770765: 3770765
4 RAX2 NM_032753.3(RAX2): c.409G> C (p.Gly137Arg) single nucleotide variant Pathogenic rs121908281 GRCh38 Chromosome 19, 3770767: 3770767
5 RAX2 NM_032753.3(RAX2): c.417_422dupCCCGGG (p.Gly141_Leu142insProGly) duplication Pathogenic rs549932754 GRCh37 Chromosome 19, 3770752: 3770757
6 RAX2 NM_032753.3(RAX2): c.417_422dupCCCGGG (p.Gly141_Leu142insProGly) duplication Pathogenic rs549932754 GRCh38 Chromosome 19, 3770754: 3770759
7 RAX2 NM_032753.3(RAX2): c.344C> A (p.Ser115Ter) single nucleotide variant Pathogenic rs398124431 GRCh37 Chromosome 19, 3770830: 3770830
8 RAX2 NM_032753.3(RAX2): c.344C> A (p.Ser115Ter) single nucleotide variant Pathogenic rs398124431 GRCh38 Chromosome 19, 3770832: 3770832
9 RAX2 NM_032753.3(RAX2): c.275C> T (p.Ser92Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 19, 3770899: 3770899
10 RAX2 NM_032753.3(RAX2): c.275C> T (p.Ser92Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 19, 3770901: 3770901

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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