CORD1
MCID: CNR003
MIFTS: 31

Cone-Rod Dystrophy 1 (CORD1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 1

MalaCards integrated aliases for Cone-Rod Dystrophy 1:

Name: Cone-Rod Dystrophy 1 56 12 52 29 15 71
Cord1 56 12 52
Cone-Rod Retinal Dystrophy-1 56 13
Crd1 56 12
Retinitis Pigmentosa 1 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant (18q21.1-qter)
heterogeneous, also a form at 19q13.1-13.2


HPO:

31
cone-rod dystrophy 1:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111009
OMIM 56 600624
OMIM Phenotypic Series 56 PS120970
MedGen 41 C1833564
UMLS 71 C0220701 C1833564

Summaries for Cone-Rod Dystrophy 1

Disease Ontology : 12 A cone-rod dystrophy that has material basis in variation in the chromosome region 18q21.1-q21.3.

MalaCards based summary : Cone-Rod Dystrophy 1, also known as cord1, is related to cone-rod dystrophy 2 and cone-rod dystrophy, x-linked, 1. An important gene associated with Cone-Rod Dystrophy 1 is CORD1 (Cone Rod Dystrophy 1 (Autosomal Dominant)), and among its related pathways/superpathways are TRAF Pathway and TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions. Related phenotypes are hearing impairment and intellectual disability

More information from OMIM: 600624 PS120970

Related Diseases for Cone-Rod Dystrophy 1

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



Diseases related to Cone-Rod Dystrophy 1

Symptoms & Phenotypes for Cone-Rod Dystrophy 1

Human phenotypes related to Cone-Rod Dystrophy 1:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 intellectual disability 31 HP:0001249
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 hypogonadism 31 HP:0000135
5 cone/cone-rod dystrophy 31 HP:0000548

Symptoms via clinical synopsis from OMIM:

56
G U:
hypogonadism

Neuro:
mental retardation

Ears:
central postsynaptic hearing impairment

Misc:
childhood onset

Eyes:
cone-rod retinal dystrophy

Lab:
cone-rod dystrophy by electrophysiology
deletion of 18q21.1-qter

Clinical features from OMIM:

600624

Drugs & Therapeutics for Cone-Rod Dystrophy 1

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

Genetic Tests for Cone-Rod Dystrophy 1

Genetic tests related to Cone-Rod Dystrophy 1:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 1 29

Anatomical Context for Cone-Rod Dystrophy 1

Publications for Cone-Rod Dystrophy 1

Articles related to Cone-Rod Dystrophy 1:

(show all 11)
# Title Authors PMID Year
1
Cone rod dystrophies. 6
17270046 2007
2
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
3
Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. 56
1867279 1991
4
CORTICAL MICROTUBULE DISORDERING1 Is Required for Secondary Cell Wall Patterning in Xylem Vessels. 61
29133465 2017
5
Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology. 61
28993665 2017
6
Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs. 61
22807295 2012
7
Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration. 61
22193413 2012
8
Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation. 61
21521437 2011
9
Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. 61
19936303 2009
10
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. 61
16806805 2006
11
Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. 61
11709018 2001

Variations for Cone-Rod Dystrophy 1

Expression for Cone-Rod Dystrophy 1

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

Pathways for Cone-Rod Dystrophy 1

Pathways related to Cone-Rod Dystrophy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 TNFRSF4 TNFRSF1A TNFRSF14 TNFRSF10B
2
Show member pathways
10.84 TNFRSF4 TNFRSF1A TNFRSF14 TNFRSF10B
3
Show member pathways
10.52 PTPMT1 PGS1

GO Terms for Cone-Rod Dystrophy 1

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.1 TNFRSF4 TNFRSF1A TNFRSF14 TNFRSF10B TAZ PSD2
2 membrane GO:0016020 10.06 TNFRSF4 TNFRSF1A TNFRSF14 TNFRSF10B TAZ TAMM41
3 mitochondrion GO:0005739 9.56 TNFRSF1A TAZ TAMM41 PTPMT1 PISD PGS1
4 extrinsic component of mitochondrial inner membrane GO:0031314 9.26 TAMM41 OPA1
5 mitochondrial inner membrane GO:0005743 9.17 TAZ TAMM41 PTPMT1 PISD PGS1 OPA1

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

# Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-mediated signaling pathway GO:0033209 9.65 TNFRSF4 TNFRSF1A TNFRSF14
2 viral entry into host cell GO:0046718 9.58 TNFRSF4 TNFRSF14 CLDN1
3 protein complex oligomerization GO:0051259 9.46 OPA1 CLDN1
4 phospholipid biosynthetic process GO:0008654 9.46 TAMM41 PTPMT1 PISD PGS1
5 regulation of ARF protein signal transduction GO:0032012 9.43 PSD2 PSD
6 inner mitochondrial membrane organization GO:0007007 9.43 TAZ OPA1 APOOL
7 phosphatidylglycerol biosynthetic process GO:0006655 9.37 PTPMT1 PGS1
8 negative regulation of adaptive immune memory response GO:1905675 9.32 TNFRSF14 CD160
9 T cell costimulation GO:0031295 9.26 TNFRSF14 ICOSLG CD160 BTLA
10 cardiolipin biosynthetic process GO:0032049 8.92 TAZ TAMM41 PTPMT1 PGS1

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

# Name GO ID Score Top Affiliating Genes
1 ARF guanyl-nucleotide exchange factor activity GO:0005086 9.16 PSD2 PSD
2 virus receptor activity GO:0001618 9.13 TNFRSF4 TNFRSF14 CLDN1
3 tumor necrosis factor-activated receptor activity GO:0005031 8.8 TNFRSF4 TNFRSF1A TNFRSF14

Sources for Cone-Rod Dystrophy 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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