MCID: VSL005
MIFTS: 25

Visual Pathway Disease

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Visual Pathway Disease

MalaCards integrated aliases for Visual Pathway Disease:

Name: Visual Pathway Disease 12 15
Disorder of Visual Pathways 70

Classifications:



External Ids:

Disease Ontology 12 DOID:1393
NCIt 50 C35342
SNOMED-CT 67 54767005
ICD10 32 H47.7 H47.9
UMLS 70 C0155287

Summaries for Visual Pathway Disease

Disease Ontology : 12 An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image.

MalaCards based summary : Visual Pathway Disease, also known as disorder of visual pathways, is related to spastic ataxia 5 and sengers syndrome. An important gene associated with Visual Pathway Disease is TIMM13 (Translocase Of Inner Mitochondrial Membrane 13), and among its related pathways/superpathways is Mitochondrial protein import. Affiliated tissues include eye, cortex and liver.

Related Diseases for Visual Pathway Disease

Diseases related to Visual Pathway Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia 5 10.3 TIMM9 TIMM10
2 sengers syndrome 10.2 TIMM8A TIMM29 TIMM10B
3 mitochondrial dna maintenance defects 10.1 POLG2 POLG
4 mitochondrial dna depletion syndrome 6 10.1 POLG2 POLG
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 10.1 POLG2 POLG
6 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 10.1 POLG2 POLG
7 mitochondrial dna depletion syndrome 7 10.1 POLG2 POLG
8 spinocerebellar ataxia 28 10.1 TIMM9 TIMM10
9 acute liver failure 10.1 POLG2 POLG
10 autosomal dominant progressive external ophthalmoplegia 10.1 POLG2 POLG
11 encephalopathy 10.1 PRNP POLG DOCK7
12 mitochondrial metabolism disease 10.0 TIMM8A POLG2 POLG
13 mitochondrial dna depletion syndrome 3 10.0 POLG2 POLG
14 immunodeficiency 38 with basal ganglia calcification 10.0 RNASEH2C RNASEH2B
15 sting-associated vasculopathy with onset in infancy 10.0 RNASEH2C RNASEH2B
16 pathologic nystagmus 10.0
17 prolidase deficiency 10.0 RNASEH2C RNASEH2B
18 3-methylglutaconic aciduria, type iii 9.9 TIMM8A TIMM13 POLG2 POLG
19 mitochondrial dna depletion syndrome 4b 9.9 POLG2 POLG
20 dyschromatosis symmetrica hereditaria 9.9 RNASEH2C RNASEH2B
21 leber hereditary optic neuropathy, modifier of 9.9 TIMM8A POLG2 POLG
22 optic nerve hypoplasia, bilateral 9.8
23 strabismus 9.8
24 ifap syndrome 2 9.8
25 mechanical strabismus 9.8
26 congenital nystagmus 9.8
27 albinism 9.8
28 spasmus nutans 9.8
29 mohr-tranebjaerg syndrome 9.8 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
30 mitochondrial disorders 9.7 TIMM8A POLG2 POLG
31 dystonia 9.1 TIMM9 TIMM8A TIMM13 TIMM10B TIMM10 RNASEH2C
32 cortical blindness 9.0 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
33 visual cortex disease 7.3 TMED8 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B

Graphical network of the top 20 diseases related to Visual Pathway Disease:



Diseases related to Visual Pathway Disease

Symptoms & Phenotypes for Visual Pathway Disease

Drugs & Therapeutics for Visual Pathway Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Brain Lesions in Relation to Motor Profiles of Children With Cerebral Visual Impairment. Unknown status NCT02480452

Search NIH Clinical Center for Visual Pathway Disease

Genetic Tests for Visual Pathway Disease

Anatomical Context for Visual Pathway Disease

MalaCards organs/tissues related to Visual Pathway Disease:

40
Eye, Cortex, Liver

Publications for Visual Pathway Disease

Articles related to Visual Pathway Disease:

(show all 17)
# Title Authors PMID Year
1
Homonymous Hemianopic Hyporeflective Retinal Abnormality on Infrared Confocal Scanning Laser Photography: A Novel Sign of Optic Tract Lesion. 61
26172159 2016
2
Clinical characteristics of children with severe visual impairment but favorable retinal structural outcomes from the Early Treatment for Retinopathy of Prematurity (ETROP) study. 61
23522948 2013
3
Severe visual impairment in children with mild or moderate retinal residua following regressed threshold retinopathy of prematurity. 61
17416324 2007
4
Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. 61
16754205 2006
5
The prevalence of low vision and blindness in Canada. 61
15905873 2006
6
Sarcoidosis of the anterior visual pathway: 24 new cases. 61
14504590 2003
7
Photophobia in anterior visual pathway disease. 61
11937896 2002
8
The prevalence of strabismus in congenital nystagmus: the influence of anterior visual pathway disease. 61
10530980 1997
9
Monocular nystagmus caused by unilateral anterior visual-pathway disease. 61
8253290 1993
10
The correlation of visual function with posterior retinal structure in severe retinopathy of prematurity. Cryotherapy for Retinopathy of Prematurity Cooperative Group. 61
1580837 1992
11
Kestenbaum's number as an indicator of pupillomotor input asymmetry. 61
2712133 1989
12
Adrenoleukodystrophy: correlating MR imaging with CT. 61
3659373 1987
13
MR of visual pathways in patients with neurofibromatosis. 61
3118676 1987
14
Computer-assisted perimetry in visual pathway disease: neuro-ophthalmic applications. 61
6535331 1984
15
Diagnostic strategies in the management of unexplained visual loss. A cost-benefit analysis. 61
6820458 1981
16
Lipofuscin and transsynaptic degeneration. 61
153644 1978
17
Atypical retinitis pigmentosa masquerading as a nerve fiber bundle lesion. 61
1078938 1975

Variations for Visual Pathway Disease

Expression for Visual Pathway Disease

Search GEO for disease gene expression data for Visual Pathway Disease.

Pathways for Visual Pathway Disease

Pathways related to Visual Pathway Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 TIMM9 TIMM8A TIMM13 TIMM10B TIMM10

GO Terms for Visual Pathway Disease

Cellular components related to Visual Pathway Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 10.01 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
2 mitochondrial inner membrane GO:0005743 9.63 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
3 mitochondrial intermembrane space GO:0005758 9.43 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
4 TIM22 mitochondrial import inner membrane insertion complex GO:0042721 9.37 TIMM29 TIMM10B
5 ribonuclease H2 complex GO:0032299 9.32 RNASEH2C RNASEH2B
6 gamma DNA polymerase complex GO:0005760 9.26 POLG2 POLG
7 mitochondrial intermembrane space protein transporter complex GO:0042719 8.92 TIMM9 TIMM13 TIMM10B TIMM10

Biological processes related to Visual Pathway Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.73 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
2 sensory perception of sound GO:0007605 9.63 TIMM9 TIMM13 TIMM10
3 protein targeting to mitochondrion GO:0006626 9.46 TIMM9 TIMM13 TIMM10B TIMM10
4 negative regulation of protein serine/threonine kinase activity GO:0071901 9.43 INKA2 INKA1
5 RNA catabolic process GO:0006401 9.4 RNASEH2C RNASEH2B
6 DNA-dependent DNA replication GO:0006261 9.37 POLG2 POLG
7 mitochondrial DNA replication GO:0006264 9.32 POLG2 POLG
8 chaperone-mediated protein transport GO:0072321 9.26 TIMM9 TIMM8A TIMM13 TIMM10
9 protein import into mitochondrial inner membrane GO:0045039 9.02 TIMM9 TIMM29 TIMM13 TIMM10B TIMM10

Molecular functions related to Visual Pathway Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-directed DNA polymerase activity GO:0003887 9.16 POLG2 POLG
2 chaperone binding GO:0051087 9.13 TIMM9 TIMM10 PRNP
3 protein serine/threonine kinase inhibitor activity GO:0030291 8.62 INKA2 INKA1

Sources for Visual Pathway Disease

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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