CORD5
MCID: CNR006
MIFTS: 29

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 57 12 53 74 29 13 6 15 72
Cord5 57 12 53 74
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:

Disease Ontology 12 DOID:0111010
MeSH 44 D058499
MedGen 42 C1832976
UMLS 72 C1832976

Summaries for Cone-Rod Dystrophy 5

UniProtKB/Swiss-Prot : 74 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 retinitis pigmentosa 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 are Metabolism of fat-soluble vitamins and Phototransduction. 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

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:

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

Symptoms via clinical synopsis from OMIM:

57
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:

26
# 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

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:

41
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. 38 8 71
17377520 2007
2
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. 38 8 71
8586428 1995
3
Cone rod dystrophies. 71
17270046 2007
4
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 71
11006213 2000
5
Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation. 38
22405330 2013
6
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. 38
18188949 2008
7
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 38
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. 38
11135490 2000
9
Analysis of peripherin/RDS gene for Japanese retinal dystrophies. 38
9690896 1998

Variations for Cone-Rod Dystrophy 5

ClinVar genetic disease variations for Cone-Rod Dystrophy 5:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PITPNM3 NM_031220.4(PITPNM3): c.1878G> C (p.Gln626His) single nucleotide variant Conflicting interpretations of pathogenicity rs76024428 17:6371557-6371557 17:6468237-6468237

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

74
# 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

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 PTK2B PITPNM3

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.62 RCVRN GUCY2D

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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