MCID: BRN029
MIFTS: 60

Brain Disease malady

Neuronal category

Summaries for Brain Disease

Sources:
44NINDS, 33MalaCards
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NINDS:44 Encephalopathy is a term for any diffuse disease of the brain that alters brain function or structure. Encephalopathy may be caused by infectious agent (bacteria, virus, or prion), metabolic or mitochondrial dysfunction, brain tumor or increased pressure in the skull, prolonged exposure to toxic elements (including solvents, drugs, radiation, paints, industrial chemicals, and certain metals), chronic progressive trauma, poor nutrition, or lack of oxygen or blood flow to the brain. The hallmark of encephalopathy is an altered mental state. Depending on the type and severity of encephalopathy, common neurological symptoms are progressive loss of memory and cognitive ability, subtle personality changes, inability to concentrate, lethargy, and progressive loss of consciousness. Other neurological symptoms may include myoclonus (involuntary twitching of a muscle or group of muscles), nystagmus (rapid, involuntary eye movement), tremor, muscle atrophy and weakness, dementia, seizures, and loss of ability to swallow or speak. Blood tests, spinal fluid examination, imaging studies, electroencephalograms, and similar diagnostic studies may be used to differentiate the various causes of encephalopathy.

MalaCards: Brain Disease, also known as encephalopathy, is related to walker-warburg syndrome and creutzfeldt-jakob syndrome. An important gene associated with Brain Disease is POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)), and among its related pathways are Collagen biosynthesis and modifying enzymes and Non-integrin membrane-ECM interactions. The compounds calcium and creatinine have been mentioned in the context of this disorder. Affiliated tissues include whole blood, lymph node and spleen, and related mouse phenotypes are nervous system and homeostasis/metabolism.

Aliases & Classifications for Brain Disease

Sources:
8Disease Ontology, 22GTR, 44NINDS, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

brain disease 8
encephalopathy 8 22 44 45
encephalopathies 61
brain diseases 61


External Ids:

Disease Ontology8 DOID:936
MeSH35 D001927
ICD1025 G93.4

Related Diseases for Brain Disease

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Brain Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 644)
idRelated DiseaseScoreTop Affiliating Genes
1walker-warburg syndrome30.1POMGNT1, FKRP, FKTN, DAG1, LAMA2, LARGE
2creutzfeldt-jakob syndrome30.0MT3, TPPP3
3fukuyama type muscular dystrophy29.9LAMA2, LARGE, FKTN, POMGNT1, DMD, POMT1
4microcephaly29.9POMT1
5mental retardation29.8CA2, DMD, POMT1, POMGNT1, FKRP, FKTN
6muscular dystrophy-dystroglycanopathy , type a, 1429.7DMD, POMT1, POMGNT1, FKRP, FKTN, DAG1
7bovine spongiform encephalopathy11.1
8hypertensive encephalopathy10.9
9toxic encephalopathy10.8
10glycine encephalopathy10.6
11ethylmalonic encephalopathy10.6
12scrapie10.6
13subcortical arteriosclerotic encephalopathy10.6
14infantile epileptic encephalopathy10.5
15variant creutzfeldt-jakob disease10.5
16mitochondrial neurogastrointestinal encephalopathy disease10.5
17early myoclonic encephalopathy10.5
18thyroiditis10.5
19status epilepticus10.4
20binswanger's disease10.4
21autoimmune thyroiditis10.4
22brain edema10.4
23ohtahara syndrome10.4
24melas syndrome10.3
25muscle eye brain disease10.3
26west syndrome10.3
27familial encephalopathy with neuroserpin inclusion bodies10.3
28acute liver failure10.3
29peho syndrome10.3
30vascular disease10.3
31wernicke-korsakoff syndrome10.3
32dravet syndrome10.3
33eclampsia10.3
34hepatitis e10.3
35lennox-gastaut syndrome10.3
36kernicterus10.2
37pellagra10.2
38cortical blindness10.2
39leigh disease10.2
40central pontine myelinolysis10.2
41chronic wasting disease10.2
42headache10.2
43reye syndrome10.2
44maple syrup urine disease10.2
45hepatitis a10.2
46guillain-barr� syndrome10.2
47myoclonus10.2
48epileptic encephalopathy, early infantile, 110.2
49chorea10.2
50hepatitis c10.1

Graphical network of the top 20 diseases related to Brain Disease:



Diseases related to brain disease

Clinical Features for Brain Disease

Drugs & Therapeutics for Brain Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Brain Disease

Drug clinical trials:

Search ClinicalTrials for Brain Disease

Search NIH Clinical Center for Brain Disease

Search CenterWatch for Brain Disease

Genetic Tests for Brain Disease

Sources:
22GTR
See all sources

Genetic tests related to Brain Disease:

id Genetic test Affiliating Genes
1 Encephalopathy22

Anatomical Context for Brain Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Brain Disease:

33
Whole blood, Lymph node, Spleen, Brain, Cortex, Cerebellum, Retina, Spinal cord, Heart, Smooth muscle, Skeletal muscle, Kidney, Liver, Lung, Thyroid, Breast, Skin, Placenta, Tonsil, Monocytes, Nk cells, T cells, B lymphoblasts, B cells, Endothelial, Fetal brain, Prefrontal cortex, Parietal lobe, Temporal lobe, Occipital lobe, Globus pallidus, Olfactory bulb, Thalamus, Subthalamic nucleus, Tongue, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Brain Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Brain Disease

Sources:
51PubMed
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Articles related to Brain Disease:

(show top 50)    (show all 2298)
idTitleAuthorsYear
1
Disrupted brain network topology in Parkinson's disease: a longitudinal magnetoencephalography study. (24271324)
2014
2
The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease. (24252572)
2013
3
Dietary omega-3 fatty acid deficiency and high fructose intake in the development of metabolic syndrome, brain metabolic abnormalities, and non-alcoholic fatty liver disease. (23896654)
2013
4
Differential and better response to deep brain stimulation of chorea compared to dystonia in Huntington's disease. (23343665)
2013
5
Is obesity a brain disease? (23911925)
2013
6
A Promising Method to Distinguish Vascular Dementia From Alzheimer's disease with Standardized Low-Resolution Brain Electromagnetic Tomography and Quantitative EEG. (24214287)
2013
7
Roles of long noncoding RNAs in brain development, functional diversification and neurodegenerative diseases. (23756188)
2013
8
Metabolic syndrome: a brain disease. (22913633)
2012
9
Depressive symptoms, brain volumes and subclinical cerebrovascular disease in postmenopausal women: the Women's Health Initiative MRI Study. (21349587)
2011
10
Classical maple syrup urine disease and brain development: principles of management and formula design. (20061171)
2010
11
Fungal granuloma of the brain caused by Aspergillus in an adolescent boy with chronic granulomatous disease. (20396894)
2010
12
Apolipoprotein E I/4-positive multiple sclerosis patients develop more gray-matter and whole-brain atrophy: a 15-year disease history model based on a 4-year longitudinal study. (21324265)
2010
13
A putative Alzheimer's disease risk allele in PCK1 influences brain atrophy in multiple sclerosis. (21152065)
2010
14
Ischaemic stroke patients with heterozygous factor V Leiden present with multiple brain infarctions and widespread atherothrombotic disease. (19132201)
2009
15
Abeta43 is more frequent than Abeta40 in amyloid plaque cores from Alzheimer disease brains. (19457079)
2009
16
Peroxiredoxin 6 in human brain: molecular forms, cellular distribution and association with Alzheimer's disease pathology. (18386021)
2008
17
Consequence of Abeta immunization on the vasculature of human Alzheimer's disease brain. (18953056)
2008
18
A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases. (17997416)
2008
19
Compensatory changes in the ubiquitin-proteasome system, brain-derived neurotrophic factor and mitochondrial complex II/III in YAC72 and R6/2 transgenic mice partially model Huntington's disease patients. (18640989)
2008
20
An NF-kappaB-sensitive micro RNA-146a-mediated inflammatory circuit in Alzheimer disease and in stressed human brain cells. (18801740)
2008
21
Effect of high-dose methyl-prednisolone on brainstem encephalopathy and basal ganglia impairment complicating cat scratch disease. (17174500)
2007
22
Reduced expression of the TrkB receptor in Huntington's disease mouse models and in human brain. (16487146)
2006
23
The role of G196A polymorphism in the brain-derived neurotrophic factor gene in the cause of Parkinson's disease: a meta-analysis. (16172806)
2005
24
A diagnostic test for MAcniA"re's Disease and Cochlear Hydrops: impaired high-pass noise masking of auditory brainstem responses. (16015174)
2005
25
Dimerization of Parkinson's disease-causing DJ-1 and formation of high molecular weight complexes in human brain. (15519239)
2004
26
Increased cell proliferation and neurogenesis in the adult human Huntington's disease brain. (12853570)
2003
27
Cannabinoid CB2 receptors and fatty acid amide hydrolase are selectively overexpressed in neuritic plaque-associated glia in Alzheimer's disease brains. (14657172)
2003
28
Standardization of plasma brain natriuretic peptide concentrations in older Japanese-relationship to latent renal dysfunction and ischemic heart disease. (12383147)
2002
29
Expression patterns of antioxidant proteins in brains of patients with sporadic Creutzfeldt-Jacob disease. (12210213)
2002
30
Primary CNS lymphoma: a whole-brain disease? (12451197)
2002
31
Metastatic brainstem pheochromocytoma in a patient with von Hippel-Lindau disease. Case illustration. (11147885)
2001
32
Deposition patterns of disease-associated prion protein in captive mule deer brains with chronic wasting disease. (11699564)
2001
33
Doppler echocardiography-derived index of myocardial performance (TEI index): comparison with brain natriuretic peptide levels in various heart disease. (11446498)
2001
34
Calpastatin immunoreactivity in the monkey and human brain of control subjects and patients with Parkinson's disease. (10722997)
2000
35
Activation of NADPH oxidase in Alzheimer's disease brains. (10873554)
2000
36
The influence of the degree of cerebral atherosclerosis on the changes in hemostatic system in patients with ischemic brain disease and atherosclerotic encephalopathy. (10645149)
1999
37
2-[fluorine-18] fluoro-2-deoxy-D-glucose PET scan of the brain in maple syrup urine disease. (10439189)
1999
38
Microtubule-associated protein30 (MAP30) and ubiquitin detected in neurofibrillary tangles of Alzheimer's disease brains]. (10681783)
1998
39
Somatic mutation analysis of the APP and Presenilin 1 and 2 genes in Alzheimer's disease brains. (9666901)
1998
40
Identification of the prion protein allotypes which accumulate in the brain of sporadic and familial Creutzfeldt-Jakob disease patients. (9142120)
1997
41
Reactive microglia specifically associated with amyloid plaques in Alzheimer's disease brain tissue express melanotransferrin. (8705294)
1996
42
Detection of borna disease virus antigen and RNA in human autopsy brain samples from neuropsychiatric patients. (8806563)
1996
43
Brain regional correspondence between Alzheimer's disease histopathology and biomarkers of protein oxidation. (7595501)
1995
44
Functional magnetic resonance imaging. Application to degenerative brain disease and hydrocephalus. (7743080)
1995
45
NADPH-diaphorase histochemistry and functional analysis of human fetal striatal brain tissue transplanted into a rodent model of Huntington's disease. (7998138)
1994
46
Fibrils in brain of Rocky Mountain elk with chronic wasting disease contain scrapie amyloid. (8372644)
1993
47
Elevated levels of brain natriuretic peptide in acute hypoxaemic chronic obstructive pulmonary disease. (1335387)
1992
48
Immunohistological study on brains of Alzheimer's disease using antibodies to fetal antigens, C-series gangliosides and microtubule-associated protein 5. (1909079)
1991
49
Changes in brain gene expression shared by scrapie and Alzheimer disease. (2780570)
1989
50
Myokymia of the tongue in a case of brainstem tumour that simulated motor-neuron disease. (3185343)
1988

Genetic Variations for Brain Disease

Expression for genes affiliated with Brain Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Brain Disease

Search GEO for disease gene expression data for Brain Disease.

Pathways for genes affiliated with Brain Disease

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN
See all sources

Compounds for genes affiliated with Brain Disease

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR
See all sources

Compounds related to Brain Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium45 50 11 2414.1CA2, DMD, POMT1, DAG1, HRH3, LAMA2
2creatinine4511.1LAMA2, FKRP, MT3, DMD, CSNK1A1L, CA2
3mannose4510.8FKTN, POMGNT1, POMT1, MGAT1
4heparin45 29 11 2413.8CA2, DMD, DAG1, LAMA2, LAMB2
5Methyl Mercury Ion1110.7CA2, MGAT1
6alpha-d-mannoside4510.7MGAT1, POMGNT1
7acetylcholine45 50 29 11 2414.5LAMB2, HRH3, DAG1, DMD

GO Terms for genes affiliated with Brain Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Brain Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basement membraneGO:00560410.7LAMB2, LAMA2, DAG1
2sarcolemmaGO:04238310.7LAMA2, DAG1, FKRP, DMD
3dystrophin-associated glycoprotein complexGO:01601010.4DMD, FKRP, DAG1

Biological processes related to Brain Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:03019811.0LAMB2, LAMA2, DAG1, POMT1, DMD
2regulation of protein glycosylationGO:06004910.7MT3, FKTN
3glycoprotein biosynthetic processGO:00910110.7LARGE, FKRP
4protein O-linked glycosylationGO:00649310.6POMGNT1, POMT1
5astrocyte developmentGO:01400210.6MT3, LAMB2
6muscle organ developmentGO:00751710.6LAMA2, FKTN, DMD
7muscle cell cellular homeostasisGO:04671610.3LARGE, DMD

Molecular functions related to Brain Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetylglucosaminyltransferase activityGO:00837510.6LARGE, MGAT1
2vinculin bindingGO:01716610.3DAG1, DMD

Products for genes affiliated with Brain Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brain Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet