MCID: VSL004
MIFTS: 21

Visual Cortex Disease

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Visual Cortex Disease

MalaCards integrated aliases for Visual Cortex Disease:

Name: Visual Cortex Disease 12 15
Visual Cortex Dysfunction 12
Visual Cortex Disorder 70

Classifications:



External Ids:

Disease Ontology 12 DOID:5691
ICD9CM 34 377.7
NCIt 50 C35275
SNOMED-CT 67 128329001
ICD10 32 H47.6
UMLS 70 C0234398

Summaries for Visual Cortex Disease

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

Related Diseases for Visual Cortex Disease

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

(show all 25)
# 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 prolidase deficiency 10.0 RNASEH2C RNASEH2B
17 3-methylglutaconic aciduria, type iii 9.9 TIMM8A TIMM13 POLG2 POLG
18 mitochondrial dna depletion syndrome 4b 9.9 POLG2 POLG
19 dyschromatosis symmetrica hereditaria 9.9 RNASEH2C RNASEH2B
20 leber hereditary optic neuropathy, modifier of 9.9 TIMM8A POLG2 POLG
21 mohr-tranebjaerg syndrome 9.8 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
22 mitochondrial disorders 9.7 TIMM8A POLG2 POLG
23 dystonia 9.1 TIMM9 TIMM8A TIMM13 TIMM10B TIMM10 RNASEH2C
24 cortical blindness 9.0 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B TIMM10
25 visual pathway disease 7.3 TMED8 TIMM9 TIMM8A TIMM29 TIMM13 TIMM10B

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



Diseases related to Visual Cortex Disease

Symptoms & Phenotypes for Visual Cortex Disease

Drugs & Therapeutics for Visual Cortex Disease

Search Clinical Trials , NIH Clinical Center for Visual Cortex Disease

Genetic Tests for Visual Cortex Disease

Anatomical Context for Visual Cortex Disease

MalaCards organs/tissues related to Visual Cortex Disease:

40
Cortex, Eye, Liver

Publications for Visual Cortex Disease

Articles related to Visual Cortex Disease:

# Title Authors PMID Year
1
Frequency-Specific Changes of Resting Brain Activity in Parkinson's Disease: A Machine Learning Approach. 61
32059985 2020

Variations for Visual Cortex Disease

Expression for Visual Cortex Disease

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

Pathways for Visual Cortex Disease

Pathways related to Visual Cortex 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 Cortex Disease

Cellular components related to Visual Cortex 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 Cortex 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 Cortex 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 Cortex 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
Content
Loading form....