CORD1
MCID: CNR003
MIFTS: 33

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 57 12 20 29 15 70
Cord1 57 12 20
Cone-Rod Retinal Dystrophy-1 57 13
Crd1 57 12
Retinitis Pigmentosa 1 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 600624
OMIM Phenotypic Series 57 PS120970
MedGen 41 C1833564
UMLS 70 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, x-linked, 1 and intrinsic cardiomyopathy. An important gene associated with Cone-Rod Dystrophy 1 is CORD1 (Cone Rod Dystrophy 1 (Autosomal Dominant)), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions. Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and hearing impairment

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 intellectual disability 31 HP:0001249
2 hearing impairment 31 HP:0000365
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Eye, Bone

Publications for Cone-Rod Dystrophy 1

Articles related to Cone-Rod Dystrophy 1:

# Title Authors PMID Year
1
Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. 57
1867279 1991
2
CORTICAL MICROTUBULE DISORDERING1 Is Required for Secondary Cell Wall Patterning in Xylem Vessels. 61
29133465 2017
3
Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology. 61
28993665 2017
4
Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs. 61
22807295 2012
5
Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration. 61
22193413 2012
6
Ophthalmic and cone derived electrodiagnostic findings in outbred Miniature Long-haired Dachshunds homozygous for a RPGRIP1 mutation. 61
21521437 2011
7
Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation. 61
19936303 2009
8
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. 61
16806805 2006
9
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

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 mitochondrion GO:0005739 9.61 TRIAP1 TNFRSF1A TAMM41 TAFAZZIN PTPMT1 PRELID1
2 mitochondrial intermembrane space GO:0005758 9.33 TRIAP1 PRELID1 OPA1
3 extrinsic component of mitochondrial inner membrane GO:0031314 9.26 TAMM41 OPA1
4 mitochondrial inner membrane GO:0005743 9.1 TAMM41 TAFAZZIN PTPMT1 PISD PGS1 OPA1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 TAMM41 PTPMT1 PISD PGS1 CDIPT
2 tumor necrosis factor-mediated signaling pathway GO:0033209 9.69 TNFRSF4 TNFRSF1A TNFRSF14
3 inner mitochondrial membrane organization GO:0007007 9.49 TAFAZZIN OPA1
4 regulation of ARF protein signal transduction GO:0032012 9.48 PSD2 PSD
5 T cell costimulation GO:0031295 9.46 TNFRSF14 ICOSLG CD160 BTLA
6 positive regulation of phospholipid transport GO:2001140 9.43 TRIAP1 PRELID1
7 negative regulation of release of cytochrome c from mitochondria GO:0090201 9.43 TRIAP1 PRELID1 OPA1
8 regulation of membrane lipid distribution GO:0097035 9.4 TRIAP1 PRELID1
9 phosphatidylglycerol biosynthetic process GO:0006655 9.37 PTPMT1 PGS1
10 phospholipid biosynthetic process GO:0008654 9.35 TAMM41 PTPMT1 PISD PGS1 CDIPT
11 negative regulation of adaptive immune memory response GO:1905675 9.32 TNFRSF14 CD160
12 cardiolipin biosynthetic process GO:0032049 8.92 TAMM41 TAFAZZIN 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 phosphatidic acid transporter activity GO:1990050 8.96 TRIAP1 PRELID1
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....