MCID: RTN005
MIFTS: 27

Retinal Lattice Degeneration

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Retinal Lattice Degeneration

MalaCards integrated aliases for Retinal Lattice Degeneration:

Name: Retinal Lattice Degeneration 12 15 71
Palisade Degeneration of Retina 12
Lattice Retinal Degeneration 6

Classifications:



External Ids:

Disease Ontology 12 DOID:12165
ICD9CM 34 362.63
SNOMED-CT 67 3577000
ICD10 32 H35.41
UMLS 71 C0154856

Summaries for Retinal Lattice Degeneration

MalaCards based summary : Retinal Lattice Degeneration, also known as palisade degeneration of retina, is related to vitreous syneresis and retinal degeneration. An important gene associated with Retinal Lattice Degeneration is COL9A3 (Collagen Type IX Alpha 3 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and O-linked glycosylation. Affiliated tissues include retina, and related phenotype is embryo.

Related Diseases for Retinal Lattice Degeneration

Diseases related to Retinal Lattice Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 vitreous syneresis 29.9 CYLC2 CYLC1 COL9A3 COL2A1
2 retinal degeneration 10.2
3 scheuermann disease 10.2 COL9A3 COL2A1
4 vitreous detachment 10.1 CYLC1 COL2A1
5 kniest dysplasia 10.1 COL9A3 COL2A1
6 congenital muscular dystrophy without intellectual disability 10.1 POMT1 FKTN
7 spondyloepiphyseal dysplasia congenita 10.1 COL9A3 COL2A1
8 marshall syndrome 10.1 COL9A3 COL2A1
9 osteochondrosis 10.1 COL9A3 COL2A1
10 ablepharon-macrostomia syndrome 10.1 POMT1 FKTN
11 bone deterioration disease 10.1 COL9A3 COL2A1
12 congenital muscular dystrophy with intellectual disability 10.1 POMT2 POMT1
13 congenital muscular dystrophy with cerebellar involvement 10.1 POMT2 POMT1
14 congenital muscular dystrophy-dystroglycanopathy type a2 10.1 POMT2 POMT1
15 vitreous disease 10.1 RPE65 COL2A1
16 fibrochondrogenesis 10.0 COL9A3 COL2A1
17 retinal detachment 10.0
18 intraocular pressure quantitative trait locus 10.0
19 open-angle glaucoma 10.0
20 myopia 10.0
21 pectus carinatum 10.0 FBN1 COL2A1
22 diastrophic dysplasia 10.0 COL9A3 COL2A1
23 retinal perforation 10.0 RPE65 CYLC1 COL2A1
24 tracheal disease 10.0 FBN1 COL2A1
25 exotropia 10.0 RPE65 FBN1 CYLC1
26 cardiomyopathy, dilated, 1x 10.0 FKTN DAG1
27 muscular dystrophy, congenital, 1b 9.9 FKTN DAG1
28 spinal stenosis 9.9 COL9A3 COL2A1
29 bone structure disease 9.9 FBN1 COL9A3 COL2A1
30 bone development disease 9.9 FBN1 COL9A3 COL2A1
31 muscular dystrophy-dystroglycanopathy , type a, 1 9.9 POMT2 POMT1 FKTN
32 keratoconus 9.8 RPE65 FBN1 COL4A4
33 primary congenital glaucoma 9.8 POMT1 FBN1
34 stargardt disease 9.8 SFTA3 RPE65 COL2A1
35 stickler syndrome 9.7 FBN1 COL9A3 COL4A4 COL2A1
36 autosomal recessive limb-girdle muscular dystrophy type 2d 9.7 POMT1 FKTN DAG1
37 cardiomyopathy, dilated, 1d 9.6 POMT2 POMT1 DAG1
38 congenital disorder of glycosylation, type in 9.6 POMT2 POMT1 DAG1
39 eye disease 9.5 SFTA3 RPE65 KRT18 COL2A1
40 odontochondrodysplasia 9.5 FBN1 COL9A3 COL2A1
41 peters-plus syndrome 9.5 POMT2 POMT1 DAG1
42 congenital muscular dystrophy-dystroglycanopathy type a 9.5 POMT2 POMT1 FKTN DAG1
43 congenital muscular dystrophy-dystroglycanopathy type a1 9.5 POMT2 POMT1 FKTN DAG1
44 muscular dystrophy-dystroglycanopathy 9.5 POMT2 POMT1 FKTN DAG1
45 muscular dystrophy 9.5 POMT2 POMT1 FKTN DAG1
46 autosomal recessive limb-girdle muscular dystrophy 9.5 POMT2 POMT1 FKTN DAG1
47 autosomal recessive limb-girdle muscular dystrophy type 2l 9.5 POMT2 POMT1 FKTN DAG1
48 muscular dystrophy-dystroglycanopathy , type c, 2 9.5 POMT2 POMT1 FKTN DAG1
49 muscular dystrophy-dystroglycanopathy , type c, 3 9.5 POMT2 POMT1 FKTN DAG1
50 hydrophthalmos 9.5 POMT2 POMT1 FKTN DAG1

Graphical network of the top 20 diseases related to Retinal Lattice Degeneration:



Diseases related to Retinal Lattice Degeneration

Symptoms & Phenotypes for Retinal Lattice Degeneration

MGI Mouse Phenotypes related to Retinal Lattice Degeneration:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.17 COL2A1 DAG1 FBN1 FKTN KRT18 POMT1

Drugs & Therapeutics for Retinal Lattice Degeneration

Search Clinical Trials , NIH Clinical Center for Retinal Lattice Degeneration

Genetic Tests for Retinal Lattice Degeneration

Anatomical Context for Retinal Lattice Degeneration

MalaCards organs/tissues related to Retinal Lattice Degeneration:

40
Retina

Publications for Retinal Lattice Degeneration

Articles related to Retinal Lattice Degeneration:

(show all 13)
# Title Authors PMID Year
1
Involvement of the Retinal Pigment Epithelium in the Development of Retinal Lattice Degeneration. 61
33027920 2020
2
Bilateral rhegmatogenous retinal detachment due to unusual retinal degeneration in Down syndrome: A case report. 61
29851814 2018
3
Pars plana vitrectomy compared with pars plana vitrectomy combined with scleral buckle in the primary management of noncomplex rhegmatogenous retinal detachment. 61
24853687 2014
4
Outpatient- and inpatient-based buckling surgery: a comparative study. 61
24812485 2014
5
Accommodative loss after retinal cryotherapy. 61
18834581 2009
6
Dilated examination of patients referred with minor lid complaints--is it necessary? 61
16645629 2007
7
Posterior vitreous detachment and retinal detachment after cataract surgery. 61
17208303 2007
8
Relationship between retinal lattice degeneration and open angle glaucoma. 61
15533618 2005
9
[Bilateral retinal detachment after laser in situ keratomileusis]. 61
15506491 2004
10
Rhegmatogenous retinal detachment and uveitis. 61
12578792 2003
11
Apoptosis in human retinal degenerations. 61
8981707 1996
12
[A study on treatment of retinal detachment with unseen retinal breaks]. 61
2289585 1990
13
[Clinical features and prognosis of retinal lattice degeneration]. 61
2249577 1990

Variations for Retinal Lattice Degeneration

ClinVar genetic disease variations for Retinal Lattice Degeneration:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL9A3 NM_001853.4(COL9A3):c.1107+1G>C SNV Likely pathogenic 973782 20:61461034-61461034 20:62829682-62829682
2 COL9A3 NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) SNV Likely pathogenic 392918 rs139401633 20:61453127-61453127 20:62821775-62821775

Expression for Retinal Lattice Degeneration

Search GEO for disease gene expression data for Retinal Lattice Degeneration.

Pathways for Retinal Lattice Degeneration

Pathways related to Retinal Lattice Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 FBN1 DAG1 COL9A3 COL4A4 COL2A1
2
Show member pathways
11.7 POMT2 POMT1 DAG1
3
Show member pathways
11.21 FBN1 DAG1 COL9A3 COL4A4 COL2A1
4 10.94 COL9A3 COL4A4
5 10.53 FBN1 COL9A3 COL4A4 COL2A1
6 10.49 POMT2 POMT1 FKTN

GO Terms for Retinal Lattice Degeneration

Cellular components related to Retinal Lattice Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.86 SFTA3 KRT18 FKTN FBN1 DAG1 COL9A3
2 extracellular matrix GO:0031012 9.67 FBN1 COL9A3 COL4A4 COL2A1
3 collagen trimer GO:0005581 9.58 COL9A3 COL4A4 COL2A1
4 collagen-containing extracellular matrix GO:0062023 9.55 FBN1 DAG1 COL9A3 COL4A4 COL2A1
5 endoplasmic reticulum lumen GO:0005788 9.35 FBN1 DAG1 COL9A3 COL4A4 COL2A1
6 cytoskeletal calyx GO:0033150 9.32 CYLC2 CYLC1
7 basement membrane GO:0005604 9.02 FBN1 DAG1 COL9A3 COL4A4 COL2A1

Biological processes related to Retinal Lattice Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.54 POMT2 POMT1 FKTN
2 protein O-linked glycosylation GO:0006493 9.33 POMT2 POMT1 FKTN
3 mannosylation GO:0097502 9.32 POMT2 POMT1
4 positive regulation of protein O-linked glycosylation GO:1904100 9.26 POMT2 POMT1
5 protein O-linked mannosylation GO:0035269 9.13 POMT2 POMT1 FKTN
6 extracellular matrix organization GO:0030198 9.1 POMT1 FBN1 DAG1 COL9A3 COL4A4 COL2A1

Molecular functions related to Retinal Lattice Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mannosyltransferase activity GO:0000030 9.26 POMT2 POMT1
2 dolichyl-phosphate-mannose-protein mannosyltransferase activity GO:0004169 9.16 POMT2 POMT1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL9A3 COL4A4 COL2A1
4 extracellular matrix structural constituent GO:0005201 8.92 FBN1 COL9A3 COL4A4 COL2A1

Sources for Retinal Lattice Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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