MCID: CNR003
MIFTS: 26

Cone-Rod Dystrophy 1

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Cone-Rod Dystrophy 1

MalaCards integrated aliases for Cone-Rod Dystrophy 1:

Name: Cone-Rod Dystrophy 1 53 12 49 28 69
Cord1 53 12 49
Crd1 53 12
Cone-Rod Retinal Dystrophy-1 53
Retinitis Pigmentosa 1 69

Characteristics:

OMIM:

53
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:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

OMIM 53 600624
Disease Ontology 12 DOID:0111009
MedGen 39 C1833564
UMLS 69 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 cone-rod dystrophy 2, and has symptoms including intellectual disability, abnormality of metabolism/homeostasis and hypogonadism. An important gene associated with Cone-Rod Dystrophy 1 is CORD1 (Cone Rod Dystrophy 1 (Autosomal Dominant)). The drugs Amphotericin B and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include eye.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Cone-rod dystrophy.

Description from OMIM: 600624

Related Diseases for Cone-Rod Dystrophy 1

Diseases related to Cone-Rod Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy, x-linked, 1 11.3
2 cone-rod dystrophy 2 10.9

Symptoms & Phenotypes for Cone-Rod Dystrophy 1

Symptoms via clinical synopsis from OMIM:

53
Eyes:
cone-rod retinal dystrophy

GU:
hypogonadism

Misc:
childhood onset

Neuro:
mental retardation

Ears:
central postsynaptic hearing impairment

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


Clinical features from OMIM:

600624

Human phenotypes related to Cone-Rod Dystrophy 1:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 abnormality of metabolism/homeostasis 31 HP:0001939
3 hypogonadism 31 HP:0000135
4 abnormality of the ear 31 HP:0000598
5 cone/cone-rod dystrophy 31 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
Amphotericin B Approved, Investigational Early Phase 1 1397-89-3 5280965 14956
2
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
3
Miconazole Approved, Investigational, Vet_approved Early Phase 1 22916-47-8 4189
4 Antifungal Agents Early Phase 1
5 Liposomal amphotericin B Early Phase 1
6 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 CLARIX™ 100 & CLARIX CORD 1K for Discectomy Patients Recruiting NCT03113786 Phase 4
2 Placental Cord Drainage Versus no Placental Drainage in the Management of Third Stage of Labour Recruiting NCT03137810
3 Peroneal and Achilles Tendon Repair Indications With CLARIX® CORD 1K Active, not recruiting NCT02719288
4 Non-healing Diabetic Foot Ulcers (DFU) Treated With SoC With or Without NEOX®CORD 1K Active, not recruiting NCT02707406
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

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 28

Anatomical Context for Cone-Rod Dystrophy 1

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

38
Eye

Publications for Cone-Rod Dystrophy 1

Articles related to Cone-Rod Dystrophy 1:

# Title Authors Year
1
p21WAF1/CIP1 regulates the p300 sumoylation motif CRD1 through a C-terminal domain independently of cyclin/CDK binding. ( 16082198 )
2005
2
The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein. ( 15269252 )
2004
3
Identification and characterization of the retinitis pigmentosa 1- like1 gene (rp1l1): a novel candidate for retinal degenerations. ( 12634863 )
2003
4
Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. ( 12724644 )
2003
5
Induction of transcription through the p300 CRD1 motif by p21WAF1/CIP1 is core promoter specific and cyclin dependent kinase independent. ( 12461297 )
2002
6
[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa]. ( 12048676 )
2002

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

Sources for Cone-Rod Dystrophy 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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