CORD5
MCID: CNR006
MIFTS: 31

Cone-Rod Dystrophy 5 (CORD5)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 5

MalaCards integrated aliases for Cone-Rod Dystrophy 5:

Name: Cone-Rod Dystrophy 5 56 12 52 73 29 13 6 15 71
Cord5 56 12 52 73
Dystrophy, Cone-Rod, Type 5 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant.


HPO:

31
cone-rod dystrophy 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111010
OMIM 56 600977
OMIM Phenotypic Series 56 PS120970
MeSH 43 D058499
MedGen 41 C1832976
UMLS 71 C1832976

Summaries for Cone-Rod Dystrophy 5

UniProtKB/Swiss-Prot : 73 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 cone-rod dystrophy 2. An important gene associated with Cone-Rod Dystrophy 5 is PITPNM3 (PITPNM Family Member 3), and among its related pathways/superpathways is Visual Cycle in Retinal Rods. 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.

More information from OMIM: 600977 PS120970

Related Diseases for Cone-Rod Dystrophy 5

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 30.4 PITPNM3 GUCY2D
2 cone-rod dystrophy 2 29.4 RIMS1 PITPNM3 GUCY2D CABP4
3 retinal disease 29.4 RIMS1 GUCY2D CABP4
4 cone-rod dystrophy 6 29.3 PDE6D GUCY2D CABP4
5 retinal degeneration 29.1 RCVRN PITPNM3 PITPNM1 GUCY2D
6 leber congenital amaurosis 28.9 RIMS1 RCVRN GUCY2D CABP4
7 fundus dystrophy 27.8 RIMS1 RCVRN PITPNM3 PDE6D GUCY2D CABP4
8 retinitis pigmentosa 27.6 RIMS1 RCVRN PITPNM3 PDE6D GUCY2D CABP4
9 inherited retinal disorder 10.2
10 yemenite deaf-blind hypopigmentation syndrome 10.1
11 macular degeneration, age-related, 1 10.1
12 neuroretinitis 10.1
13 retinitis 10.1
14 night blindness 10.1 GUCY2D CABP4
15 cone-rod dystrophy 17 9.9 RIMS1 PITPNM3
16 scotoma 9.9 RCVRN GUCY2D
17 partial central choroid dystrophy 9.9 RIMS1 GUCY2D
18 hereditary choroidal atrophy 9.8 RIMS1 GUCY2D
19 pathologic nystagmus 9.8 GUCY2D CABP4
20 cone-rod dystrophy 12 9.7 RIMS1 PITPNM3 GUCY2D
21 achromatopsia 9.6 GUCY2D CABP4
22 cone-rod dystrophy 3 9.6 RIMS1 GUCY2D CABP4
23 eye disease 9.4 RCVRN GUCY2D CABP4
24 choroidal dystrophy, central areolar, 1 9.3 RIMS1 PITPNM3 PITPNM1 GUCY2D
25 cone-rod dystrophy 7 9.3 RIMS1 PITPNM3 PITPNM1 CABP4
26 congenital stationary night blindness 9.2 RIMS1 RCVRN GUCY2D CABP4

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

Human phenotypes related to Cone-Rod Dystrophy 5:

31
# Description HPO Frequency HPO Source Accession
1 photophobia 31 HP:0000613
2 reduced visual acuity 31 HP:0007663
3 macular degeneration 31 HP:0000608
4 color vision defect 31 HP:0000551
5 cone dystrophy 31 HP:0008020

Symptoms via clinical synopsis from OMIM:

56
Eyes:
cone dystrophy. progressive central vision loss. defective color vision. photophobia.

Clinical features from OMIM:

600977

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 5:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CABP4 GUCY2D PDE6D PITPNM1 RCVRN

Drugs & Therapeutics for Cone-Rod Dystrophy 5

Search Clinical Trials , 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:

40
Eye

Publications for Cone-Rod Dystrophy 5

Articles related to Cone-Rod Dystrophy 5:

# Title Authors PMID Year
1
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. 61 56 6
17377520 2007
2
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. 61 56 6
8586428 1995
3
Cone rod dystrophies. 6
17270046 2007
4
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 6
11006213 2000
5
Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation. 61
22405330 2013
6
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. 61
18188949 2008
7
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 61
12552567 2003
8
Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family. 61
11135490 2000
9
Analysis of peripherin/RDS gene for Japanese retinal dystrophies. 61
9690896 1998

Variations for Cone-Rod Dystrophy 5

ClinVar genetic disease variations for Cone-Rod Dystrophy 5:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PITPNM3 NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)SNV Conflicting interpretations of pathogenicity 1994 rs76024428 17:6371557-6371557 17:6468237-6468237

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

73
# Symbol AA change Variation ID SNP ID
1 PITPNM3 p.Gln626His VAR_046787 rs76024428

Expression for Cone-Rod Dystrophy 5

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

Pathways for Cone-Rod Dystrophy 5

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

# Super pathways Score Top Affiliating Genes
1 10.9 RCVRN PDE6D GUCY2D CABP4

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 8.96 PITPNM3 PITPNM1
2 photoreceptor outer segment GO:0001750 8.62 RCVRN GUCY2D

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.46 RIMS1 RCVRN PDE6D GUCY2D
2 phosphatidylinositol biosynthetic process GO:0006661 9.32 PITPNM3 PITPNM1
3 phospholipid transport GO:0015914 9.26 PITPNM3 PITPNM1
4 phototransduction GO:0007602 9.13 RCVRN PITPNM1 CABP4
5 visual perception GO:0007601 9.02 RIMS1 RCVRN PDE6D GUCY2D CABP4

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

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.26 RIMS1 CABP4
2 calcium ion binding GO:0005509 9.26 RCVRN PITPNM3 PITPNM1 CABP4
3 receptor tyrosine kinase binding GO:0030971 9.16 PITPNM3 PITPNM1
4 phospholipid transporter activity GO:0005548 8.62 PITPNM3 PITPNM1

Sources for Cone-Rod Dystrophy 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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