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 57 13 73
Cordx1 57 12 53 75
Cod1 57 12 53 75
Cone-Rod Dystrophy, X-Linked 1 75 29 6
X-Linked Cone-Rod Dystrophy 1 12 15
Cone Dystrophy X-Linked 1 53 75
Dystrophy, Cone-Rod, X-Linked, Type 1 40
Cone Dystrophy 1, X-Linked; Cod1 57
Cone-Rod Dystrophy X-Linked 1 53
Cone Dystrophy, X-Linked, 1 73
Cone Dystrophy 1, X-Linked 57
X-Linked Cone Dystrophy 1 12

Characteristics:

OMIM:

57
Inheritance:
? x-linked


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 Transport to the Golgi and subsequent modification and Golgi-to-ER retrograde 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 : 57 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 10.1
2 cone dystrophy 10.1
3 congenital disorder of glycosylation, type iij 9.8 COG4 COG5
4 congenital disorder of glycosylation, type ii 9.7 COG4 COG5 COG8
5 congenital disorder of glycosylation, type in 9.7 COG4 COG5 COG8
6 cone-rod dystrophy, x-linked, 2 9.6 COG4 COG5 COG8 RPGR

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 visual impairment 32 HP:0000505
3 photophobia 32 HP:0000613
4 abnormality of metabolism/homeostasis 32 HP:0001939
5 myopia 32 HP:0000545
6 reduced visual acuity 32 HP:0007663
7 cone/cone-rod dystrophy 32 HP:0000548
8 macular scar 32 HP:0200056
9 cone dysfunction syndrome 32 HP:0030637

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 29 RPGR

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

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

41
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.3096_3097delGG (p.Glu1033Argfs) deletion Pathogenic rs606231180 GRCh38 Chromosome X, 38285902: 38285903
2 RPGR NM_001034853.1(RPGR): c.3096_3097delGG (p.Glu1033Argfs) deletion Pathogenic rs606231180 GRCh37 Chromosome X, 38145155: 38145156
3 RPGR NM_001034853.1(RPGR): c.3092_3093delAG (p.Glu1031Glyfs) deletion Pathogenic rs606231181 GRCh38 Chromosome X, 38285906: 38285907
4 RPGR NM_001034853.1(RPGR): c.3092_3093delAG (p.Glu1031Glyfs) deletion Pathogenic rs606231181 GRCh37 Chromosome X, 38145159: 38145160
5 RPGR RPGR, 15-BP DEL, NT694 deletion Pathogenic
6 RPGR NM_001034853.1(RPGR): c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer) indel Pathogenic rs267607019 GRCh37 Chromosome X, 38145404: 38145405
7 RPGR NM_001034853.1(RPGR): c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer) indel Pathogenic rs267607019 GRCh38 Chromosome X, 38286151: 38286152
8 RPGR NM_001034853.1(RPGR): c.2929G> T (p.Gly977Ter) single nucleotide variant Pathogenic rs137852551 GRCh37 Chromosome X, 38145323: 38145323
9 RPGR NM_001034853.1(RPGR): c.2929G> T (p.Gly977Ter) single nucleotide variant Pathogenic rs137852551 GRCh38 Chromosome X, 38286070: 38286070
10 RPGR NM_000328.2(RPGR): c.482_483delTT (p.Phe162Tyrfs) deletion Pathogenic rs281865298 GRCh37 Chromosome X, 38176705: 38176706
11 RPGR NM_000328.2(RPGR): c.482_483delTT (p.Phe162Tyrfs) deletion Pathogenic rs281865298 GRCh38 Chromosome X, 38317452: 38317453
12 RPGR NM_001034853.1(RPGR): c.3178_3179delGA (p.Glu1060Argfs) deletion Likely pathogenic rs771214648 GRCh37 Chromosome X, 38145073: 38145074
13 RPGR NM_001034853.1(RPGR): c.3178_3179delGA (p.Glu1060Argfs) deletion Likely pathogenic rs771214648 GRCh38 Chromosome X, 38285820: 38285821

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 Golgi apparatus GO:0005794 9.46 COG4 COG5 COG8 RPGR
2 Golgi membrane GO:0000139 9.43 COG4 COG5 COG8
3 trans-Golgi network membrane GO:0032588 9.13 COG4 COG5 COG8
4 Golgi transport complex GO:0017119 8.8 COG4 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 protein transport GO:0015031 9.54 COG4 COG5 COG8
2 cellular calcium ion homeostasis GO:0006874 9.32 ATP13A1 ATP13A4
3 cation transport GO:0006812 9.26 ATP13A1 ATP13A4
4 intra-Golgi vesicle-mediated transport GO:0006891 9.16 COG5 COG8
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 8.96 ATP13A1 ATP13A4
6 ER to Golgi vesicle-mediated transport GO:0006888 8.8 COG4 COG5 COG8

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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