CORD1
MCID: CNR003
MIFTS: 29

Cone-Rod Dystrophy 1 (CORD1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 1

MalaCards integrated aliases for Cone-Rod Dystrophy 1:

Name: Cone-Rod Dystrophy 1 57 12 53 29 15 72
Cord1 57 12 53
Cone-Rod Retinal Dystrophy-1 57 13
Crd1 57 12
Retinitis Pigmentosa 1 72

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (18q21.1-qter)
heterogeneous, also a form at 19q13.1-13.2


HPO:

32
cone-rod dystrophy 1:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111009
MedGen 42 C1833564
UMLS 72 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 Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. Affiliated tissues include eye, and related phenotypes are intellectual disability and hearing impairment

More information from OMIM: 600624 PS120970

Related Diseases for Cone-Rod Dystrophy 1

Symptoms & Phenotypes for Cone-Rod Dystrophy 1

Human phenotypes related to Cone-Rod Dystrophy 1:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 hearing impairment 32 HP:0000365
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 hypogonadism 32 HP:0000135
5 cone/cone-rod dystrophy 32 HP:0000548

Symptoms via clinical synopsis from OMIM:

57
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

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

41
Eye

Publications for Cone-Rod Dystrophy 1

Articles related to Cone-Rod Dystrophy 1:

(show all 11)
# Title Authors PMID Year
1
Cone rod dystrophies. 71
17270046 2007
2
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 71
11006213 2000
3
Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. 8
1867279 1991
4
CORTICAL MICROTUBULE DISORDERING1 Is Required for Secondary Cell Wall Patterning in Xylem Vessels. 38
29133465 2017
5
Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology. 38
28993665 2017
6
Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs. 38
22807295 2012
7
Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration. 38
22193413 2012
8
Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation. 38
21521437 2011
9
Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. 38
19936303 2009
10
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. 38
16806805 2006
11
Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. 38
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

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 external side of plasma membrane GO:0009897 8.8 TNFRSF4 TNFRSF14 MUC17

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

# Name GO ID Score Top Affiliating Genes
1 viral entry into host cell GO:0046718 9.32 TNFRSF4 TNFRSF14
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.26 MUC17 EP300
3 viral process GO:0016032 9.26 TNFRSF4 TNFRSF1A TNFRSF14 EP300
4 T cell costimulation GO:0031295 9.16 TNFRSF14 BTLA
5 tumor necrosis factor-mediated signaling pathway GO:0033209 8.8 TNFRSF4 TNFRSF1A TNFRSF14

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

# Name GO ID Score Top Affiliating Genes
1 virus receptor activity GO:0001618 8.96 TNFRSF4 TNFRSF14
2 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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