CRD1
MCID: CNR003
MIFTS: 35

Cone-Rod Dystrophy 1 (CRD1)

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 53 29 15 73
Cord1 57 12 53
Crd1 57 12
Cone-Rod Retinal Dystrophy-1 57
Retinitis Pigmentosa 1 73

Characteristics:

OMIM:

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


HPO:

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


Classifications:



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. The drugs Glycerol and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are intellectual disability and hearing impairment

Description from OMIM: 600624

Related Diseases for Cone-Rod Dystrophy 1

Symptoms & Phenotypes for Cone-Rod Dystrophy 1

Symptoms via clinical synopsis from OMIM:

57
G U:
hypogonadism

Misc:
childhood onset

Ears:
central postsynaptic hearing impairment

Neuro:
mental retardation

Eyes:
cone-rod retinal dystrophy

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


Clinical features from OMIM:

600624

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

Drugs & Therapeutics for Cone-Rod Dystrophy 1

Drugs for Cone-Rod Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
2
Miconazole Approved, Investigational, Vet_approved Early Phase 1 22916-47-8 4189
3
Amphotericin B Approved, Investigational Early Phase 1 1397-89-3 5280965 14956
4 Liposomal amphotericin B Early Phase 1
5 Antifungal Agents Early Phase 1
6 Mitogens Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 CLARIX™ 100 & CLARIX CORD 1K for Discectomy Patients Active, not recruiting NCT03113786 Phase 4
2 Peroneal and Achilles Tendon Repair Indications With CLARIX® CORD 1K Completed NCT02719288 Not Applicable
3 Placental Cord Drainage Versus no Placental Drainage in the Management of Third Stage of Labour Recruiting NCT03137810 Not Applicable
4 Non-healing Diabetic Foot Ulcers (DFU) Treated With SoC With or Without NEOX®CORD 1K Active, not recruiting NCT02707406 Not Applicable
5 A Pilot Study to Assess the Efficacy of NEOX® CORD 1K® in the Treatment of Complex Diabetic Wounds Not yet recruiting NCT03296436 Early Phase 1
6 NEOX® CORD 1K vs Standard of Care in Non-healing Diabetic Foot Ulcers Terminated NCT02166294 Not Applicable

Search 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:

# Title Authors Year
1
The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. ( 15269252 )
2004
2
Identification and characterization of the retinitis pigmentosa 1- like1 gene (rp1l1): a novel candidate for retinal degenerations. ( 12634863 )
2003
3
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. ( 12724644 )
2003
4
[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa]. ( 12048676 )
2002
5
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. ( 11960024 )
2002
6
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1). ( 11527933 )
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 MUC17 TNFRSF14 TNFRSF4

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 9.26 TNFRSF14 TNFRSF4
2 viral process GO:0016032 9.26 EP300 TNFRSF14 TNFRSF1A TNFRSF4
3 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.16 EP300 MUC17
4 tumor necrosis factor-mediated signaling pathway GO:0033209 8.8 TNFRSF14 TNFRSF1A TNFRSF4

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 TNFRSF14 TNFRSF4
2 tumor necrosis factor-activated receptor activity GO:0005031 8.8 TNFRSF14 TNFRSF1A TNFRSF4

Sources for Cone-Rod Dystrophy 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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