CORD5
MCID: CNR006
MIFTS: 36

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 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 6. 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 Visual Cycle in Retinal Rods. 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 27)
# Related Disease Score Top Affiliating Genes
1 cone dystrophy 30.0 PITPNM3 OPN1LW GUCY2D
2 cone-rod dystrophy 6 29.7 GUCY2D CABP4
3 retinal disease 29.4 OPN1LW GUCY2D CABP4
4 leber plus disease 28.9 RCVRN GUCY2D CABP4
5 cone-rod dystrophy 2 28.8 PITPNM3 PITPNM1 OPN1LW GUCY2D CABP4
6 retinal degeneration 28.7 RCVRN PITPNM3 PITPNM1 GUCY2D
7 retinitis pigmentosa 27.9 RCVRN PITPNM3 OPN1LW GUCY2D CABP4
8 fundus dystrophy 27.8 RCVRN PITPNM3 PITPNM1 OPN1LW GUCY2D CABP4
9 inherited retinal disorder 10.3
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 cone-rod dystrophy 17 10.1 PITPNM3 GUCY2D
15 cone-rod dystrophy 12 10.1 PITPNM3 GUCY2D
16 night blindness 10.0 GUCY2D CABP4
17 choroidal dystrophy, central areolar, 1 10.0 PITPNM3 GUCY2D
18 cone-rod dystrophy 3 9.9 GUCY2D CABP4
19 blue cone monochromacy 9.8 OPN1LW GUCY2D
20 color blindness 9.7 OPN1LW GUCY2D
21 cone-rod dystrophy 7 9.7 PITPNM3 PITPNM1 CABP4
22 scotoma 9.7 RCVRN GUCY2D
23 pathologic nystagmus 9.5 OPN1LW GUCY2D CABP4
24 achromatopsia 9.5 OPN1LW GUCY2D CABP4
25 eye degenerative disease 9.3 RCVRN GUCY2D
26 eye disease 9.1 RCVRN GUCY2D CABP4
27 congenital stationary night blindness 8.9 RCVRN OPN1LW 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 color vision defect 31 HP:0000551
4 macular degeneration 31 HP:0000608
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 OPN1LW 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

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. 6 56 61
17377520 2007
2
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. 6 56 61
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 (show top 50) (show all 154) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PITPNM3 NM_031220.4(PITPNM3):c.2107C>T (p.Arg703Trp)SNV Conflicting interpretations of pathogenicity 861099 17:6367539-6367539 17:6464219-6464219
2 PITPNM3 NM_031220.4(PITPNM3):c.287G>A (p.Arg96Gln)SNV Conflicting interpretations of pathogenicity 839720 17:6387600-6387600 17:6484280-6484280
3 PITPNM3 NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His)SNV Conflicting interpretations of pathogenicity 1994 rs76024428 17:6371557-6371557 17:6468237-6468237
4 PITPNM3 NM_031220.4(PITPNM3):c.507C>A (p.Phe169Leu)SNV Conflicting interpretations of pathogenicity 198270 rs367702668 17:6386917-6386917 17:6483597-6483597
5 PITPNM3 NM_031220.4(PITPNM3):c.987G>A (p.Leu329=)SNV Conflicting interpretations of pathogenicity 199174 rs148451236 17:6380447-6380447 17:6477127-6477127
6 PITPNM3 NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu)SNV Conflicting interpretations of pathogenicity 167471 rs138671220 17:6377886-6377886 17:6474566-6474566
7 PITPNM3 NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met)SNV Conflicting interpretations of pathogenicity 194272 rs139119218 17:6373665-6373665 17:6470345-6470345
8 PITPNM3 NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=)SNV Conflicting interpretations of pathogenicity 194895 rs146899730 17:6364828-6364828 17:6461508-6461508
9 PITPNM3 NM_031220.4(PITPNM3):c.747G>A (p.Lys249=)SNV Conflicting interpretations of pathogenicity 324760 rs371282530 17:6381897-6381897 17:6478577-6478577
10 PITPNM3 NM_031220.4(PITPNM3):c.456C>A (p.Ala152=)SNV Uncertain significance 324762 rs761342538 17:6386968-6386968 17:6483648-6483648
11 PITPNM3 NM_031220.4(PITPNM3):c.22+15G>CSNV Uncertain significance 324772 rs777876563 17:6459690-6459690 17:6556370-6556370
12 PITPNM3 NM_031220.4(PITPNM3):c.-40A>CSNV Uncertain significance 324774 rs886053302 17:6459766-6459766 17:6556446-6556446
13 PITPNM3 NM_031220.4(PITPNM3):c.274+14G>TSNV Uncertain significance 324766 rs886053301 17:6406833-6406833 17:6503513-6503513
14 PITPNM3 NM_031220.4(PITPNM3):c.*2957G>ASNV Uncertain significance 324687 rs72830303 17:6355701-6355701 17:6452381-6452381
15 PITPNM3 NM_031220.4(PITPNM3):c.*1656G>ASNV Uncertain significance 324721 rs547660659 17:6357002-6357002 17:6453682-6453682
16 PITPNM3 NM_031220.4(PITPNM3):c.1997C>T (p.Thr666Ile)SNV Uncertain significance 324746 rs886053298 17:6367985-6367985 17:6464665-6464665
17 PITPNM3 NM_031220.4(PITPNM3):c.1899G>A (p.Thr633=)SNV Uncertain significance 324747 rs370756871 17:6368083-6368083 17:6464763-6464763
18 PITPNM3 NM_031220.4(PITPNM3):c.1854G>A (p.Glu618=)SNV Uncertain significance 324748 rs886053299 17:6371581-6371581 17:6468261-6468261
19 PITPNM3 NM_031220.4(PITPNM3):c.195C>T (p.Ile65=)SNV Uncertain significance 324769 rs142749216 17:6428707-6428707 17:6525387-6525387
20 PITPNM3 NM_031220.4(PITPNM3):c.*3706G>CSNV Uncertain significance 324656 rs886053275 17:6354952-6354952 17:6451632-6451632
21 PITPNM3 NM_031220.4(PITPNM3):c.*3452C>GSNV Uncertain significance 324674 rs57115440 17:6355206-6355206 17:6451886-6451886
22 PITPNM3 NM_031220.4(PITPNM3):c.*3371C>TSNV Uncertain significance 324678 rs779802158 17:6355287-6355287 17:6451967-6451967
23 PITPNM3 NM_031220.4(PITPNM3):c.*674G>ASNV Uncertain significance 324730 rs886053296 17:6357984-6357984 17:6454664-6454664
24 PITPNM3 NM_031220.4(PITPNM3):c.2746T>G (p.Phe916Val)SNV Uncertain significance 324742 rs750289060 17:6358837-6358837 17:6455517-6455517
25 PITPNM3 NM_031220.4(PITPNM3):c.1773+7C>TSNV Uncertain significance 324749 rs886053300 17:6373573-6373573 17:6470253-6470253
26 PITPNM3 NM_031220.4(PITPNM3):c.2190G>A (p.Thr730=)SNV Uncertain significance 838018 17:6367168-6367168 17:6463848-6463848
27 PITPNM3 NM_031220.4(PITPNM3):c.*3707G>ASNV Uncertain significance 324655 rs553844137 17:6354951-6354951 17:6451631-6451631
28 PITPNM3 NM_031220.4(PITPNM3):c.*3342C>TSNV Uncertain significance 324679 rs746634506 17:6355316-6355316 17:6451996-6451996
29 PITPNM3 NM_031220.4(PITPNM3):c.*2302A>CSNV Uncertain significance 324706 rs56400419 17:6356356-6356356 17:6453036-6453036
30 PITPNM3 NM_031220.4(PITPNM3):c.*1733C>ASNV Uncertain significance 324719 rs562178969 17:6356925-6356925 17:6453605-6453605
31 PITPNM3 NM_031220.4(PITPNM3):c.*1673G>ASNV Uncertain significance 324720 rs753609983 17:6356985-6356985 17:6453665-6453665
32 PITPNM3 NM_031220.4(PITPNM3):c.2307-12C>ASNV Uncertain significance 324744 rs375605801 17:6364888-6364888 17:6461568-6461568
33 PITPNM3 NM_031220.4(PITPNM3):c.*1095G>ASNV Uncertain significance 324726 rs779765367 17:6357563-6357563 17:6454243-6454243
34 PITPNM3 NM_031220.4(PITPNM3):c.913G>T (p.Ala305Ser)SNV Uncertain significance 324758 rs549384558 17:6380521-6380521 17:6477201-6477201
35 PITPNM3 NM_031220.4(PITPNM3):c.-129C>TSNV Uncertain significance 324775 rs886053303 17:6459855-6459855 17:6556535-6556535
36 PITPNM3 NM_031220.4(PITPNM3):c.*3462G>CSNV Uncertain significance 324665 rs773713375 17:6355196-6355196 17:6451876-6451876
37 PITPNM3 NM_031220.4(PITPNM3):c.*2701C>TSNV Uncertain significance 324695 rs562895550 17:6355957-6355957 17:6452637-6452637
38 PITPNM3 NM_031220.4(PITPNM3):c.*2289A>GSNV Uncertain significance 324707 rs886053292 17:6356369-6356369 17:6453049-6453049
39 PITPNM3 NM_031220.4(PITPNM3):c.*2199G>ASNV Uncertain significance 324711 rs548870374 17:6356459-6356459 17:6453139-6453139
40 PITPNM3 NM_031220.4(PITPNM3):c.*299C>ASNV Uncertain significance 324738 rs886053297 17:6358359-6358359 17:6455039-6455039
41 PITPNM3 NM_031220.4(PITPNM3):c.*4047C>TSNV Uncertain significance 324652 rs886053274 17:6354611-6354611 17:6451291-6451291
42 PITPNM3 NM_031220.4(PITPNM3):c.*1106A>GSNV Uncertain significance 324725 rs886053295 17:6357552-6357552 17:6454232-6454232
43 PITPNM3 NM_031220.4(PITPNM3):c.825C>T (p.Ala275=)SNV Uncertain significance 889653 17:6381370-6381370 17:6478050-6478050
44 PITPNM3 NM_031220.4(PITPNM3):c.651C>T (p.Ala217=)SNV Uncertain significance 889654 17:6381993-6381993 17:6478673-6478673
45 PITPNM3 NM_031220.4(PITPNM3):c.564T>C (p.Ser188=)SNV Uncertain significance 891218 17:6386860-6386860 17:6483540-6483540
46 PITPNM3 NM_031220.4(PITPNM3):c.463C>T (p.His155Tyr)SNV Uncertain significance 891219 17:6386961-6386961 17:6483641-6483641
47 PITPNM3 NM_031220.4(PITPNM3):c.16C>T (p.Arg6Cys)SNV Uncertain significance 889027 17:6459711-6459711 17:6556391-6556391
48 PITPNM3 NM_031220.4(PITPNM3):c.-92C>TSNV Uncertain significance 889028 17:6459818-6459818 17:6556498-6556498
49 PITPNM3 NM_031220.4(PITPNM3):c.*3762C>TSNV Uncertain significance 890891 17:6354896-6354896 17:6451576-6451576
50 PITPNM3 NM_031220.4(PITPNM3):c.*840T>CSNV Uncertain significance 891104 17:6357818-6357818 17:6454498-6454498

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
Show member pathways
11.46 RCVRN OPN1LW GUCY2D
2 10.77 RCVRN 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 projection GO:0042995 9.46 RCVRN PITPNM3 GUCY2D CABP4
2 cell body GO:0044297 9.26 PITPNM3 PITPNM1
3 photoreceptor disc membrane GO:0097381 8.96 OPN1LW GUCY2D
4 photoreceptor outer segment GO:0001750 8.8 RCVRN OPN1LW 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 9.5 RCVRN OPN1LW GUCY2D
2 phosphatidylinositol biosynthetic process GO:0006661 9.26 PITPNM3 PITPNM1
3 visual perception GO:0007601 9.26 RCVRN OPN1LW GUCY2D CABP4
4 phospholipid transport GO:0015914 9.16 PITPNM3 PITPNM1
5 phototransduction GO:0007602 8.92 RCVRN PITPNM1 OPN1LW CABP4

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 RCVRN PITPNM3 PITPNM1 CABP4
2 receptor tyrosine kinase binding GO:0030971 9.16 PITPNM3 PITPNM1
3 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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