MCID: BRN029
MIFTS: 62

Brain Disease malady

Neuronal diseases category

Summaries for Brain Disease

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43NINDS, 32MalaCards
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NINDS:43 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 myopathy and schizophrenia. 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 brain, eye and heart, and related mouse phenotypes are nervous system and homeostasis/metabolism.

Aliases & Classifications for Brain Disease

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8Disease Ontology, 22GTR, 43NINDS, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 25ICD10
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Classifications:

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


Aliases & Descriptions:

brain disease 8
encephalopathy 8 22 43 44
encephalopathies 60
brain diseases 60


External Ids:

Disease Ontology8 DOID:936
MeSH34 D001927
ICD1025 G93.4

Related Diseases for Brain Disease

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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 616)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.7DMD, POMT1, POMGNT1, FKRP, FKTN, DAG1
2schizophrenia30.6TPPP3, HRH3
3neuropathy30.4DMD, POMT1, POMGNT1, FKRP, FKTN, DAG1
4prion disease30.4HSPB6, CA2, CSNK1A1L, MT3, CLN5, HRH3
5walker-warburg syndrome30.1POMGNT1, FKRP, FKTN, DAG1, LAMA2, LARGE
6muscular dystrophy30.0LAMB2, DMD, POMT1, POMGNT1, FKRP, FKTN
7congenital muscular dystrophy30.0LARGE
8creutzfeldt-jakob syndrome30.0MT3, TPPP3
9microcephaly29.9POMT1
10hydrocephalus29.8POMGNT1
11muscular dystrophy-dystroglycanopathy , type a, 1429.6DMD, POMT1, POMGNT1, FKRP, FKTN, DAG1
12epilepsy syndrome29.6DMD, MT3, CLN5, HRH3, LAMA2
13intellectual disability29.5DMD, POMT1, FKRP, FKTN, DAG1
14dilated cardiomyopathy29.5DMD, FKRP, LAMA2
15bovine spongiform encephalopathy11.0
16hypertensive encephalopathy10.9
17wernicke encephalopathy10.8
18toxic encephalopathy10.8
19glycine encephalopathy10.6
20lactic acidosis10.6
21scrapie10.6
22eye disease10.6
23infantile epileptic encephalopathy10.5
24mitochondrial neurogastrointestinal encephalopathy disease10.5
25early myoclonic encephalopathy10.5
26status epilepticus10.4
27liver cirrhosis10.4
28ethylmalonic encephalopathy10.4
29autoimmune thyroiditis10.4
30cerebritis10.4
31ohtahara syndrome10.4
32brain edema10.4
33influenza10.3
34melas syndrome10.3
35west syndrome10.3
36familial encephalopathy with neuroserpin inclusion bodies10.3
37acute liver failure10.3
38cat-scratch disease10.3
39muscle eye brain disease10.3
40optic atrophy10.3
41dravet syndrome10.3
42vascular disease10.3
43wernicke-korsakoff syndrome10.3
44eclampsia10.3
45lennox-gastaut syndrome10.3
46kernicterus10.2
47pellagra10.2
48cortical blindness10.2
49leigh disease10.2
50central pontine myelinolysis10.2

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



Diseases related to brain disease

Clinical Features for Brain Disease

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Drugs & Therapeutics for Brain Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Sources:
22GTR
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Genetic tests related to Brain Disease:

id Genetic test Affiliating Genes
1 Encephalopathy22

Anatomical Context for Brain Disease

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Sources:
32MalaCards
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MalaCards organs/tissues related to Brain Disease:

32
Brain, Eye, Heart, Testes, Cortex, Lung, Kidney, Liver, Endothelial, Subthalamic nucleus, Thyroid, T cells, Cerebellum, Skin, Bone, Temporal lobe, Spleen, Spinal cord, Globus pallidus, Fetal brain, Thalamus, Smooth muscle, Monocytes, Tonsil, Skeletal muscle, Placenta, Nk cells, Olfactory bulb, Retina, Occipital lobe, Lymph node, Breast

Animal Models for Brain Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Brain Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363111.6LAMB2, MGAT1, DMD, MT3, POMGNT1, FKRP
2MP:000537611.5POMGNT1, MT3, DMD, FAM3B, CA2, FKRP
3MP:000538611.5POMGNT1, MT3, DMD, FAM3D, FKRP, FKTN
4MP:000537811.4CA2, MGAT1, DMD, POMGNT1, FKRP, FKTN
5MP:001076811.3POMT1, MT3, DMD, MGAT1, CA2, POMGNT1
6MP:000536911.2DMD, POMT1, POMGNT1, FKRP, FKTN, DAG1
7MP:000539510.8LAMA2, DAG1, FKTN, POMGNT1
8MP:000539110.7DMD, POMGNT1, FKRP, CLN5, DAG1, LARGE

Publications for Brain Disease

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Sources:
50PubMed
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Articles related to Brain Disease:

(show top 50)    (show all 2219)
idTitleAuthorsYear
1
Alpha-synuclein transcript isoforms in three different brain regions from Parkinson's disease and healthy subjects in relation to the SNCA rs356165/rs11931074 polymorphisms. (24418406)
2014
2
Reduced functional brain connectivity prior to and after disease onset in Huntington's disease. (24179791)
2013
3
Texture analysis of ultrahigh field T2 *-weighted MR images of the brain: Application to Huntington's disease. (23723108)
2013
4
New evidence of mitochondria dysfunction in the female Alzheimer's disease brain: deficiency of estrogen receptor-I^. (22451324)
2012
5
FTIR imaging of brain tissue reveals crystalline creatine deposits are an ex vivo marker of localized ischemia during murine cerebral malaria: general implications for disease neurochemistry. (23259037)
2012
6
Optogenetic investigation of neural circuits underlying brain disease in animal models. (22430017)
2012
7
Migration and fate of therapeutic stem cells in different brain disease models. (21946010)
2011
8
Genomic landscape of the Alzheimer's disease brain: chromosome instability--aneuploidy, but not tetraploidy--mediates neurodegeneration. (21135562)
2011
9
Muscle-Eye-Brain disease. (20215985)
2010
10
Brain perfusion SPECT correlates with CSF biomarkers in Alzheimer's disease. (19820929)
2010
11
CD147, a gamma-secretase associated protein is upregulated in Alzheimer's disease brain and its cellular trafficking is affected by presenilin-2. (19751784)
2010
12
DTI fiber tracking to differentiate demyelinating diseases from diffuse brain stem glioma. (20363335)
2010
13
Mitochondrial dysfunction: common final pathway in brain aging and Alzheimer's disease--therapeutic aspects. (20461558)
2010
14
Role of adenosine A(2A) receptors in modulating synaptic functions and brain levels of BDNF: a possible key mechanism in the pathophysiology of Huntington's disease. (20842321)
2010
15
Neuroprotective mechanisms of brain-derived neurotrophic factor against 3-nitropropionic acid toxicity: therapeutic implications for Huntington's disease. (20649532)
2010
16
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. (19679478)
2009
17
Diminished hippocalcin expression in Huntington's disease brain does not account for increased striatal neuron vulnerability as assessed in primary neurons. (19686238)
2009
18
Schizophrenia as a progressive brain disease. (18513927)
2008
19
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. (17881266)
2008
20
Sex-dependent association of a common low-density lipoprotein receptor polymorphism with RNA splicing efficiency in the brain and Alzheimer's disease. (18065781)
2008
21
Endosomal accumulation of Toll-like receptor 4 causes constitutive secretion of cytokines and activation of signal transducers and activators of transcription in Niemann-Pick disease type C (NPC) fibroblasts: a potential basis for glial cell activation in the NPC brain. (17314284)
2007
22
Effects of acidosis on brain capillary endothelial cells and cholinergic neurons: relevance to vascular dementia and Alzheimer's disease. (16945219)
2006
23
Differences in regional brain atrophy in genetic forms of Alzheimer's disease. (15894410)
2006
24
M30, a novel multifunctional neuroprotective drug with potent iron chelating and brain selective monoamine oxidase-ab inhibitory activity for Parkinson's disease. (17017567)
2006
25
Brain-derived neurotrophic factor, apolipoprotein E genetic variants and cognitive performance in Alzheimer's disease. (15337270)
2004
26
Topographical and cytopathological lesion analysis of the white matter in Binswanger's disease brains. (15088098)
2004
27
Brain-derived neurotrophic factor controls dopamine D3 receptor expression: therapeutic implications in Parkinson's disease. (14623353)
2003
28
Home care versus institutionalization: family caregiving and senile brain disease. International Journal of Nursing Studies (1983), 20, 23-32. (12828966)
2003
29
Aberrant protein expression of transcription factors BACH1 and ERG, both encoded on chromosome 21, in brains of patients with Down syndrome and Alzheimer's disease. (15068237)
2003
30
Distinct isoforms of tau aggregated in neurons and glial cells in brains of patients with Pick's disease, corticobasal degeneration and progressive supranuclear palsy. (11271372)
2001
31
Oral inoculation of sheep with the agent of bovine spongiform encephalopathy (BSE). 1. Onset and distribution of disease-specific PrP accumulation in brain and viscera. (11437504)
2001
32
Selective distribution of matrix metalloproteinase-3 (MMP-3) in Alzheimer's disease brain. (10672313)
2000
33
Phosphorylation of MARCKS in Alzheimer disease brains. (10757536)
2000
34
Isolation of Borna disease virus from human brain tissue. (10775596)
2000
35
ELISA-quantitation of phosphorylated tau protein in the Alzheimer's disease brain. (10567816)
1999
36
Drug delivery of antisense molecules to the brain for treatment of Alzheimer's disease and cerebral AIDS. (9811482)
1998
37
Full length huntingtin is not detected in intranuclear inclusions in Huntington's disease brain. (9765962)
1998
38
Expression of interleukin-1 receptor antagonist protein in post-mortem human brain tissues of Alzheimer's disease and control cases. (9113207)
1997
39
N-acetylaspartylglutamate, N-acetylaspartate, and N-acetylated alpha-linked acidic dipeptidase in human brain and their alterations in Huntington and Alzheimer's diseases. (9376025)
1997
40
Neuronal expression and intracellular localization of presenilins in normal and Alzheimer disease brains. (9291942)
1997
41
Pattern of tau-1 and ubiquitin immunoreactivity in the white matter of temporal lobe in senile and with Alzheimer's disease brains. (8855087)
1996
42
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. (8808595)
1996
43
Effects of brain-derived neurotrophic factor on motor dysfunction in wobbler mouse motor neuron disease. (7717687)
1995
44
Electron transport chain defects in Alzheimer's disease brain. (8208407)
1994
45
Astrocytic straight tubules in the brain of a patient with Pick's disease. (7879608)
1994
46
Cystatin A-like immunoreactivity is widely distributed in human brain and accumulates in neuritic plaques of Alzheimer disease subjects. (8186992)
1994
47
Differential inhibition of acetylcholinesterase molecular forms in normal and Alzheimer disease brain. (1393597)
1992
48
Cytomegalic inclusion disease: intrauterine sonographic diagnosis using findings involving the brain. (1846993)
1991
49
Medullary catecholaminergic neurons in the normal human brain and in Parkinson's disease. (1892359)
1991
50
Letter: Violence and brain disease. (4800817)
1973

Genetic Variations for Brain Disease

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Expression for genes affiliated with Brain Disease

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

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Pathways for genes affiliated with Brain Disease

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN
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Compounds for genes affiliated with Brain Disease

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Brain Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcium44 49 11 2414.1CA2, DMD, POMT1, DAG1, HRH3, LAMA2
2creatinine4411.1LAMA2, FKRP, MT3, DMD, CSNK1A1L, CA2
3mannose4410.8FKTN, POMGNT1, POMT1, MGAT1
4heparin44 28 11 2413.8CA2, DMD, DAG1, LAMA2, LAMB2
5Methyl Mercury Ion1110.7CA2, MGAT1
6alpha-d-mannoside4410.7MGAT1, POMGNT1
7acetylcholine44 49 28 11 2414.5LAMB2, HRH3, DAG1, DMD

GO Terms for genes affiliated with Brain Disease

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16Gene Ontology
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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

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Sources for Brain Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet