CORDX1
MCID: CNR031
MIFTS: 37

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

Categories: Eye diseases, Genetic diseases, Neuronal 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 56 13 71
Cordx1 56 12 52 73
Cone-Rod Dystrophy, X-Linked 1 73 29 6
Cod1 12 52 73
X-Linked Cone-Rod Dystrophy 1 12 15
Cone Dystrophy X-Linked 1 52 73
Dystrophy, Cone-Rod, X-Linked, Type 1 39
Cone-Rod Dystrophy X-Linked 1 52
Cone Dystrophy, X-Linked, 1 71
X-Linked Cone Dystrophy 1 12

Characteristics:

OMIM:

56
Inheritance:
? x-linked


Classifications:



External Ids:

Disease Ontology 12 DOID:0111008
OMIM 56 304020
OMIM Phenotypic Series 56 PS120970
MeSH 43 D058499
UMLS 71 C1844776 C1844777

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

UniProtKB/Swiss-Prot : 73 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 retinal disease and cone-rod dystrophy 2. An important gene associated with Cone-Rod Dystrophy, X-Linked, 1 is RPGR (Retinitis Pigmentosa GTPase Regulator), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Related phenotypes are visual impairment and photophobia

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 : 56 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:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 retinal disease 29.8 RPGR OPN1LW CACNA1F
2 cone-rod dystrophy 2 10.3
3 retinitis pigmentosa 3 10.2
4 cone dystrophy 10.2
5 retinitis pigmentosa 4 10.2 SERPINA3 RPGR
6 red-green color blindness 10.1 RPGR OPN1LW
7 color blindness 10.1 RPGR OPN1LW
8 cone-rod dystrophy, x-linked, 3 10.1 SERPINA3 RPGR CACNA1F
9 saul-wilson syndrome 10.0 COG5 COG4 COG1
10 pathologic nystagmus 9.9 RPGR OPN1LW CACNA1F
11 spinal muscular atrophy, distal, autosomal recessive, 3 9.9 COG8 COG4 COG1
12 achromatopsia 9.9 RPGR OPN1LW CACNA1F
13 congenital disorder of glycosylation, type iid 9.9 COG7 COG1
14 retinitis pigmentosa 23 9.9 RPGR CACNA1F
15 congenital stationary night blindness 9.8 RPGR OPN1LW CACNA1F
16 congenital disorder of glycosylation, type iih 9.4 COG8 COG7 COG6 COG1
17 congenital disorder of glycosylation, type iii 9.4 COG8 COG7 COG5 COG4 COG1
18 congenital disorder of glycosylation, type iil 9.2 COG7 COG6 COG5 COG4 COG1
19 congenital disorder of glycosylation, type iij 9.2 COG8 COG7 COG5 COG4 COG3 COG1
20 immunodeficiency 47 8.8 COG8 COG7 COG6 COG5 COG4 COG3
21 congenital disorder of glycosylation, type in 8.8 COG8 COG7 COG6 COG5 COG4 COG3
22 cone-rod dystrophy, x-linked, 2 8.3 SERPINA3 RPGR OPN1LW COG8 COG7 COG5

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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 photophobia 31 HP:0000613
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 nystagmus 31 HP:0000639
5 myopia 31 HP:0000545
6 reduced visual acuity 31 HP:0007663
7 color vision defect 31 HP:0000551
8 cone/cone-rod dystrophy 31 HP:0000548
9 macular scar 31 HP:0200056
10 congenital stationary cone dysfunction 31 HP:0030637

Symptoms via clinical synopsis from OMIM:

56
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 29 RPGR

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

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

Articles related to Cone-Rod Dystrophy, X-Linked, 1:

(show all 20)
# Title Authors PMID Year
1
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. 56 6
15914600 2005
2
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. 56 6
11857109 2002
3
Mutations in the RPGR gene cause X-linked cone dystrophy. 56 6
11875055 2002
4
Cone rod dystrophies. 6
17270046 2007
5
Red contact lenses for alleviation of photophobia in patients with cone disorders. 56
15059731 2004
6
A new genetic locus for X linked progressive cone-rod dystrophy. 56
12807962 2003
7
Local cone and rod system function in progressive cone dystrophy. 56
12091439 2002
8
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
9
Linkage analysis of X-linked cone-rod dystrophy: localization to Xp11.4 and definition of a locus distinct from RP2 and RP3. 56
9443860 1998
10
Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity. 56
9199568 1997
11
Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). 56
7977377 1994
12
DNA carrier detection in X-linked progressive cone dystrophy. 56
8076408 1994
13
Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3. 56
8288262 1993
14
X linked progressive cone dystrophy with specific attention to carrier detection. 56
1583654 1992
15
X-linked cone dystrophy. An overlooked diagnosis? 56
3498700 1987
16
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. 56
3489456 1986
17
Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus. 56
6971088 1981
18
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. 61
24124559 2013
19
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 61
16505158 2006
20
Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15. 61
15734019 2005

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RPGR NM_000328.3(RPGR):c.1905+1191_1905+1192deldeletion Pathogenic 9910 rs606231180 X:38145155-38145156 X:38285902-38285903
2 RPGR NM_000328.3(RPGR):c.1905+1187_1905+1188delshort repeat Pathogenic 9911 rs606231181 X:38145159-38145160 X:38285906-38285907
3 RPGR RPGR, 15-BP DEL, NT694deletion Pathogenic 9914
4 RPGR NM_000328.3(RPGR):c.1905+942_1905+943invinversion Pathogenic 9917 rs267607019 X:38145404-38145405 X:38286151-38286152
5 RPGR NM_000328.3(RPGR):c.1905+1024G>TSNV Pathogenic 9918 rs137852551 X:38145323-38145323 X:38286070-38286070
6 RPGR NM_000328.3(RPGR):c.485_486del (p.Phe162fs)deletion Pathogenic 98787 rs281865297 X:38176702-38176703 X:38317449-38317450
7 RPGR NM_000328.3(RPGR):c.1905+1273_1905+1274delshort repeat Pathogenic/Likely pathogenic 216990 rs771214648 X:38145073-38145074 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 membrane GO:0016020 10.15 OPN1LW EMC7 COG8 COG7 COG6 COG5
2 Golgi apparatus GO:0005794 9.86 RPGR COG8 COG7 COG6 COG5 COG4
3 Golgi membrane GO:0000139 9.7 COG8 COG7 COG6 COG5 COG4 COG3
4 photoreceptor outer segment GO:0001750 9.5 RPGR OPN1LW CACNA1F
5 trans-Golgi network membrane GO:0032588 9.5 COG8 COG7 COG6 COG5 COG4 COG3
6 Golgi transport complex GO:0017119 9.17 COG8 COG7 COG6 COG5 COG4 COG3

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 9.7 COG8 COG7 COG6 COG5 COG4 COG3
2 visual perception GO:0007601 9.58 RPGR OPN1LW CACNA1F
3 Golgi organization GO:0007030 9.56 COG7 COG4 COG3 COG1
4 retrograde vesicle-mediated transport, Golgi to ER GO:0006890 9.5 COG7 COG4 COG3
5 protein localization to organelle GO:0033365 9.37 COG7 COG3
6 intra-Golgi vesicle-mediated transport GO:0006891 9.35 COG8 COG6 COG5 COG3 COG1
7 ER to Golgi vesicle-mediated transport GO:0006888 9.17 COG8 COG7 COG6 COG5 COG4 COG3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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