CORD5
MCID: CNR006
MIFTS: 29

Cone-Rod Dystrophy 5 (CORD5)

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

Aliases & Classifications for Cone-Rod Dystrophy 5

MalaCards integrated aliases for Cone-Rod Dystrophy 5:

Name: Cone-Rod Dystrophy 5 58 12 54 76 30 13 6 15 74
Cord5 58 12 54 76
Dystrophy, Cone-Rod, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant.


HPO:

33
cone-rod dystrophy 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111010
OMIM 58 600977
MeSH 45 D058499
MedGen 43 C1832976
UMLS 74 C1832976

Summaries for Cone-Rod Dystrophy 5

UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy 5: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy 5, also known as cord5, is related to cone dystrophy and fundus dystrophy. An important gene associated with Cone-Rod Dystrophy 5 is PITPNM3 (PITPNM Family Member 3), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. The drug Bilirubin has been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are photophobia and reduced visual acuity

Disease Ontology : 12 A cone-rod dystrophy that has material basis in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1.

Description from OMIM: 600977

Related Diseases for Cone-Rod Dystrophy 5

Symptoms & Phenotypes for Cone-Rod Dystrophy 5

Human phenotypes related to Cone-Rod Dystrophy 5:

33
# Description HPO Frequency HPO Source Accession
1 photophobia 33 HP:0000613
2 reduced visual acuity 33 HP:0007663
3 abnormality of color vision 33 HP:0000551
4 macular degeneration 33 HP:0000608
5 cone/cone-rod dystrophy 33 HP:0000548

Symptoms via clinical synopsis from OMIM:

58
Eyes:
cone dystrophy. progressive central vision loss. defective color vision. photophobia.

Clinical features from OMIM:

600977

GenomeRNAi Phenotypes related to Cone-Rod Dystrophy 5 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 8.92 GUCY2D PTK2B
2 Decreased substrate adherent cell growth GR00193-A-3 8.92 PTK2B
3 Decreased substrate adherent cell growth GR00193-A-4 8.92 PTK2B

Drugs & Therapeutics for Cone-Rod Dystrophy 5

Drugs for Cone-Rod Dystrophy 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bilirubin Not Applicable 635-65-4, 69853-43-6 5280352 21252250

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Milking Versus Delayed Cord Clamping in Full Term Neonates Completed NCT02454101 Not Applicable
2 Placental Transfusion in Term Infants: A Pilot Study Completed NCT01924572 Not Applicable

Search NIH Clinical Center for Cone-Rod Dystrophy 5

Genetic Tests for Cone-Rod Dystrophy 5

Genetic tests related to Cone-Rod Dystrophy 5:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 5 30 PITPNM3

Anatomical Context for Cone-Rod Dystrophy 5

MalaCards organs/tissues related to Cone-Rod Dystrophy 5:

42
Eye

Publications for Cone-Rod Dystrophy 5

Variations for Cone-Rod Dystrophy 5

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 5:

76
# Symbol AA change Variation ID SNP ID
1 PITPNM3 p.Gln626His VAR_046787 rs76024428

ClinVar genetic disease variations for Cone-Rod Dystrophy 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PITPNM3 NM_031220.3(PITPNM3): c.1878G> C (p.Gln626His) single nucleotide variant Conflicting interpretations of pathogenicity rs76024428 GRCh37 Chromosome 17, 6371557: 6371557
2 PITPNM3 NM_031220.3(PITPNM3): c.1878G> C (p.Gln626His) single nucleotide variant Conflicting interpretations of pathogenicity rs76024428 GRCh38 Chromosome 17, 6468237: 6468237

Expression for Cone-Rod Dystrophy 5

Search GEO for disease gene expression data for Cone-Rod Dystrophy 5.

Pathways for Cone-Rod Dystrophy 5

GO Terms for Cone-Rod Dystrophy 5

Cellular components related to Cone-Rod Dystrophy 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell body GO:0044297 8.62 PITPNM3 PTK2B

Biological processes related to Cone-Rod Dystrophy 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration GO:0007204 8.96 PTGIR PTK2B
2 signal transduction GO:0007165 8.92 GUCY2D PTGIR PTK2B RCVRN

Sources for Cone-Rod Dystrophy 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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