CORDX1
MCID: CNR031
MIFTS: 32

Cone-Rod Dystrophy, X-Linked, 1 (CORDX1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy, X-Linked, 1

MalaCards integrated aliases for Cone-Rod Dystrophy, X-Linked, 1:

Name: Cone-Rod Dystrophy, X-Linked, 1 58 13 74
Cordx1 58 12 54 76
Cone-Rod Dystrophy, X-Linked 1 76 30 6
Cod1 12 54 76
X-Linked Cone-Rod Dystrophy 1 12 15
Cone Dystrophy X-Linked 1 54 76
Dystrophy, Cone-Rod, X-Linked, Type 1 41
Cone-Rod Dystrophy X-Linked 1 54
Cone Dystrophy, X-Linked, 1 74
X-Linked Cone Dystrophy 1 12

Characteristics:

OMIM:

58
Inheritance:
? x-linked


Classifications:



Summaries for Cone-Rod Dystrophy, X-Linked, 1

UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy, X-linked 1: 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. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms.

MalaCards based summary : Cone-Rod Dystrophy, X-Linked, 1, also known as cordx1, is related to cone-rod dystrophy 2 and cone dystrophy. An important gene associated with Cone-Rod Dystrophy, X-Linked, 1 is RPGR (Retinitis Pigmentosa GTPase Regulator), and among its related pathways/superpathways are Cardiac conduction and Ion channel transport. Affiliated tissues include eye, and related phenotypes are nystagmus and visual impairment

Disease Ontology : 12 A cone-rod dystrophy that has material basis in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11.

OMIM : 58 X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors (Demirci et al., 2002). Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings (Hong et al., 1994). (304020)

Related Diseases for Cone-Rod Dystrophy, X-Linked, 1

Diseases in the Cone-Rod Dystrophy, X-Linked, 1 family:

Cone-Rod Dystrophy, X-Linked, 2 Cone-Rod Dystrophy, X-Linked, 3

Diseases related to Cone-Rod Dystrophy, X-Linked, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 10.2
2 cone dystrophy 10.1
3 juvenile-onset parkinson's disease 9.8 ATP13A1 ATP13A5
4 kufor-rakeb syndrome 9.8 ATP13A1 ATP13A5
5 congenital disorder of glycosylation, type ii 9.7 COG5 COG8
6 cone-rod dystrophy, x-linked, 2 9.5 COG5 COG8 RPGR
7 congenital disorder of glycosylation, type in 9.5 COG5 COG8

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy, X-Linked, 1:



Diseases related to Cone-Rod Dystrophy, X-Linked, 1

Symptoms & Phenotypes for Cone-Rod Dystrophy, X-Linked, 1

Human phenotypes related to Cone-Rod Dystrophy, X-Linked, 1:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 visual impairment 33 HP:0000505
3 photophobia 33 HP:0000613
4 abnormality of metabolism/homeostasis 33 HP:0001939
5 myopia 33 HP:0000545
6 reduced visual acuity 33 HP:0007663
7 cone/cone-rod dystrophy 33 HP:0000548
8 macular scar 33 HP:0200056
9 congenital stationary cone dysfunction 33 HP:0030637

Symptoms via clinical synopsis from OMIM:

58
Eyes:
photophobia
myopia
reduced visual acuity
cone dysfunction
fine nystagmus
more
Lab:
disturbed cone erg
progressive macular scarring

Misc:
diminished visual acuity and myopia in heterozygous females

Clinical features from OMIM:

304020

Drugs & Therapeutics for Cone-Rod Dystrophy, X-Linked, 1

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy, X-Linked, 1

Genetic Tests for Cone-Rod Dystrophy, X-Linked, 1

Genetic tests related to Cone-Rod Dystrophy, X-Linked, 1:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy, X-Linked 1 30 RPGR

Anatomical Context for Cone-Rod Dystrophy, X-Linked, 1

MalaCards organs/tissues related to Cone-Rod Dystrophy, X-Linked, 1:

42
Eye

Publications for Cone-Rod Dystrophy, X-Linked, 1

Variations for Cone-Rod Dystrophy, X-Linked, 1

ClinVar genetic disease variations for Cone-Rod Dystrophy, X-Linked, 1:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 RPGR NM_001034853.1(RPGR): c.3178_3179delGA (p.Glu1060Argfs) deletion Likely pathogenic rs771214648 GRCh37 Chromosome X, 38145073: 38145074
2 RPGR NM_001034853.1(RPGR): c.3178_3179delGA (p.Glu1060Argfs) deletion Likely pathogenic rs771214648 GRCh38 Chromosome X, 38285820: 38285821
3 RPGR NM_001034853.1(RPGR): c.3096_3097delGG (p.Glu1033Argfs) deletion Pathogenic rs606231180 GRCh38 Chromosome X, 38285902: 38285903
4 RPGR NM_001034853.1(RPGR): c.3096_3097delGG (p.Glu1033Argfs) deletion Pathogenic rs606231180 GRCh37 Chromosome X, 38145155: 38145156
5 RPGR NM_001034853.1(RPGR): c.3092_3093delAG (p.Glu1031Glyfs) deletion Pathogenic rs606231181 GRCh38 Chromosome X, 38285906: 38285907
6 RPGR NM_001034853.1(RPGR): c.3092_3093delAG (p.Glu1031Glyfs) deletion Pathogenic rs606231181 GRCh37 Chromosome X, 38145159: 38145160
7 RPGR RPGR, 15-BP DEL, NT694 deletion Pathogenic
8 RPGR NM_001034853.1(RPGR): c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer) indel Pathogenic rs267607019 GRCh37 Chromosome X, 38145404: 38145405
9 RPGR NM_001034853.1(RPGR): c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer) indel Pathogenic rs267607019 GRCh38 Chromosome X, 38286151: 38286152
10 RPGR NM_001034853.1(RPGR): c.2929G> T (p.Gly977Ter) single nucleotide variant Pathogenic rs137852551 GRCh37 Chromosome X, 38145323: 38145323
11 RPGR NM_001034853.1(RPGR): c.2929G> T (p.Gly977Ter) single nucleotide variant Pathogenic rs137852551 GRCh38 Chromosome X, 38286070: 38286070
12 RPGR NM_000328.2(RPGR): c.482_483delTT (p.Phe162Tyrfs) deletion Pathogenic rs281865297 GRCh37 Chromosome X, 38176705: 38176706
13 RPGR NM_000328.2(RPGR): c.482_483delTT (p.Phe162Tyrfs) deletion Pathogenic rs281865297 GRCh38 Chromosome X, 38317452: 38317453

Expression for Cone-Rod Dystrophy, X-Linked, 1

Search GEO for disease gene expression data for Cone-Rod Dystrophy, X-Linked, 1.

Pathways for Cone-Rod Dystrophy, X-Linked, 1

GO Terms for Cone-Rod Dystrophy, X-Linked, 1

Cellular components related to Cone-Rod Dystrophy, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 8.96 COG5 COG8
2 Golgi transport complex GO:0017119 8.62 COG5 COG8

Biological processes related to Cone-Rod Dystrophy, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.43 ATP13A1 ATP13A4 ATP13A5
2 ER to Golgi vesicle-mediated transport GO:0006888 9.37 COG5 COG8
3 cellular calcium ion homeostasis GO:0006874 9.33 ATP13A1 ATP13A4 ATP13A5
4 intra-Golgi vesicle-mediated transport GO:0006891 9.32 COG5 COG8
5 cation transport GO:0006812 9.13 ATP13A1 ATP13A4 ATP13A5
6 ATP hydrolysis coupled cation transmembrane transport GO:0099132 8.8 ATP13A1 ATP13A4 ATP13A5

Molecular functions related to Cone-Rod Dystrophy, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.13 ATP13A1 ATP13A4 ATP13A5
2 cation-transporting ATPase activity GO:0019829 8.62 ATP13A4 ATP13A5

Sources for Cone-Rod Dystrophy, X-Linked, 1

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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