CORD5
MCID: CNR006
MIFTS: 31

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 57 12 53 75 29 13 6 15 73
Cord5 57 12 53 75
Dystrophy, Cone-Rod, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant.


HPO:

32
cone-rod dystrophy 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600977
Disease Ontology 12 DOID:0111010
MedGen 42 C1832976
MeSH 44 D058499
UMLS 73 C1832976

Summaries for Cone-Rod Dystrophy 5

UniProtKB/Swiss-Prot : 75 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

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 5:



Diseases related to Cone-Rod Dystrophy 5

Symptoms & Phenotypes for Cone-Rod Dystrophy 5

Symptoms via clinical synopsis from OMIM:

57
Eyes:
cone dystrophy. progressive central vision loss. defective color vision. photophobia.


Clinical features from OMIM:

600977

Human phenotypes related to Cone-Rod Dystrophy 5:

32
# Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 reduced visual acuity 32 HP:0007663
3 abnormality of color vision 32 HP:0000551
4 macular degeneration 32 HP:0000608
5 cone/cone-rod dystrophy 32 HP:0000548

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

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 PTGIR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.58 HTR7
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.58 PITPNM1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.58 HTR7 PITPNM1 PTGIR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.58 PITPNM1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.58 PTGIR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.58 PTGIR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.58 PITPNM1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.58 HTR7
10 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.58 PITPNM1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.58 PITPNM1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.58 PITPNM1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.58 PITPNM1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.58 PITPNM1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.58 PITPNM1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.58 PTGIR

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 5280352

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 29 PITPNM3

Anatomical Context for Cone-Rod Dystrophy 5

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

41
Eye

Publications for Cone-Rod Dystrophy 5

Variations for Cone-Rod Dystrophy 5

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

75
# 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 dendrite GO:0030425 9.13 HTR7 PTK2B RCVRN
2 cell body GO:0044297 8.8 PITPNM1 PITPNM3 PTK2B

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.37 HTR7 PTGIR
2 phosphatidylinositol biosynthetic process GO:0006661 9.32 PITPNM1 PITPNM3
3 phospholipid transport GO:0015914 9.26 PITPNM1 PITPNM3
4 phototransduction GO:0007602 9.16 PITPNM1 RCVRN
5 visual perception GO:0007601 9.13 CNGB3 GUCY2D RCVRN
6 signal transduction GO:0007165 9.1 CNGB3 GUCY2D HTR7 PTGIR PTK2B RCVRN

Molecular functions related to Cone-Rod Dystrophy 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor tyrosine kinase binding GO:0030971 8.96 PITPNM1 PITPNM3
2 phosphatidylinositol transporter activity GO:0008526 8.62 PITPNM1 PITPNM3

Sources for Cone-Rod Dystrophy 5

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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