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, Cerebellum, T cells, Skin, Spleen, Bone, Spinal cord, Temporal lobe, Thalamus, Fetal brain, Globus pallidus, Tonsil, Placenta, Skeletal muscle, Smooth muscle, Monocytes, Retina, Breast, Nk cells, Lymph node, Occipital lobe, Olfactory bulb

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

Publications for Brain Disease

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50PubMed
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Articles related to Brain Disease:

(show top 50)    (show all 2219)
idTitleAuthorsYear
1
Alzheimer's Disease: Evidence for the Expression of Interleukin-33 and Its Receptor ST2 in the Brain. (24413615)
2014
2
Erratum to: N-terminal Pro-Brain Natriuretic Peptide (NT proBNP) as a Predictive Indicator of Initial Intravenous Immunoglobulin Treatment Failure in Children With Kawasaki Disease: A Retrospective Study. (24287729)
2014
3
Reducing iron in the brain: a novel pharmacologic mechanism of huperzine A in the treatment of Alzheimer's disease. (24332448)
2013
4
Mindfulness based intervention in Parkinson's disease leads to structural brain changes on MRI: a randomized controlled longitudinal trial. (24184066)
2013
5
Brain region specific pre-synaptic and post-synaptic degeneration are early components of neuropathology in prion disease. (23383030)
2013
6
Enhancement of cognitive function in models of brain disease through environmental enrichment and physical activity. (22766390)
2013
7
Sporadic Alzheimer's disease begins as episodes of brain ischemia and ischemically dysregulated Alzheimer's disease genes. (23519520)
2013
8
Deep brain stimulation in Parkinson's disease. (24245947)
2013
9
The impact of Bdnf gene deficiency to the memory impairment and brain pathology of APPswe/PS1dE9 mouse model of Alzheimer's disease. (23844236)
2013
10
Zinc transporter mRNA levels in Alzheimer's disease postmortem brain. (22349685)
2012
11
Distribution of granulocyte-monocyte colony-stimulating factor and its receptor I+-subunit in the adult human brain with specific reference to Alzheimer's disease. (22430742)
2012
12
When the heart is burning: amino-terminal pro-brain natriuretic peptide as an early marker of cardiac involvement in active autoimmune rheumatic disease. (19926149)
2011
13
Behavioral stress causes mitochondrial dysfunction via ABAD up-regulation and aggravates plaque pathology in the brain of a mouse model of Alzheimer disease. (21382475)
2011
14
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain. (20799318)
2010
15
Brain-water diffusion coefficients reflect the severity of inherited prion disease. (20177119)
2010
16
MiR-107 is reduced in Alzheimer's disease brain neocortex: validation study. (20413881)
2010
17
Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? (19319678)
2009
18
Reduced O-GlcNAcylation links lower brain glucose metabolism and tau pathology in Alzheimer's disease. (19451179)
2009
19
Loss of phospholipid asymmetry and elevated brain apoptotic protein levels in subjects with amnestic mild cognitive impairment and Alzheimer disease. (18077176)
2008
20
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease. (16962235)
2006
21
MRI volumetry and proton MR spectroscopy of the brain in Lafora disease. (16650146)
2006
22
Preservation of the blood brain barrier integrity may underlie neuroprotective effects of statins in Alzheimer's disease. (17183152)
2006
23
Pro-NGF from Alzheimer's disease and normal human brain displays distinctive abilities to induce processing and nuclear translocation of intracellular domain of p75NTR and apoptosis. (16816366)
2006
24
Laser-capture microdissection of plasma cells from subacute sclerosing panencephalitis brain reveals intrathecal disease-relevant antibodies. (15883366)
2005
25
Downregulation of myelination, energy, and translational genes in Menkes disease brain. (15923132)
2005
26
Brain-derived neurotrophic factor gene polymorphisms and Alzheimer's disease. (15375678)
2005
27
Metabolic interaction between ApoE genotype and onset age in Alzheimer's disease: implications for brain reserve. (15607989)
2005
28
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
29
Experimental brain inflammation and neurodegeneration as model of Alzheimer's disease: protective effects of selective COX-2 inhibitors. (14552702)
2003
30
Spatial patterns of mammalian brain aging: distribution of cathepsin D-immunoreactive cell bodies and dystrophic dendrites in aging dogs resembles that in Alzheimer's disease. (12900930)
2003
31
Serum cytokine levels do not correlate with disease activity and severity assessed by brain MRI in multiple sclerosis. (11939943)
2002
32
Standardization of plasma brain natriuretic peptide concentrations in older Japanese-relationship to latent renal dysfunction and ischemic heart disease. (12383147)
2002
33
Expression of endothelial and inducible NOS-isoforms is increased in Alzheimer's disease, in APP23 transgenic mice and after experimental brain lesion in rat: evidence for an induction by amyloid pathology. (11532247)
2001
34
Deranged expression of molecular chaperones in brains of patients with Alzheimer's disease. (11162507)
2001
35
Troyer syndrome: a combination of central brain abnormality and motor neuron disease? (10463356)
1999
36
Differential expression of multiple transglutaminases in human brain. Increased expression and cross-linking by transglutaminases 1 and 2 in Alzheimer's disease. (10521460)
1999
37
Regulation of brain G-protein go by Alzheimer's disease gene presenilin-1. (9632688)
1998
38
Regional dopamine transporter gene expression in the substantia nigra from control and Parkinson's disease brains. (9703165)
1998
39
Induction of degenerative brain lesions after adoptive transfer of brain lymphocytes from Borna disease virus-infected rats: presence of CD8+ T cells and perforin mRNA. (9032377)
1997
40
Quantification of APP and APLP2 mRNA in APOE genotyped Alzheimer's disease brains. (9037522)
1996
41
Prevalence of thyroid hormone abnormalities in elderly patients with symptoms of organic brain disease. (8959237)
1996
42
Expression of apolipoprotein E in normal and diverse neurodegenerative disease brain. (8905654)
1996
43
Immune-mediated brain atrophy. CD8+ T cells contribute to tissue destruction during borna disease. (7912707)
1994
44
Genetic sensitivity to thiamine deficiency and development of alcoholic organic brain disease. (8452206)
1993
45
Implementing the definition of nursing practice: case study. II. Nursing intervention for the patient with chronic organic brain disease. (1060723)
1975
46
THE ATTENUATION OF THE VIRUS OF EPIZOOTIC HEMORRHAGIC DISEASE OF DEER BY ITS SERIAL PASSAGE IN THE BRAINS OF NEWBORN MICE. (14078001)
1963
47
Metastatic brain disease: carcinomatosis of the meninges. (13592433)
1958
48
Serial administration of the "amytal test" for brain disease; its diagnostic and prognostic value. (13123587)
1954
49
A transposed analysis of the Bender Gestalts of brain disease cases. (13201660)
1954
50
Skin lesions in organic brain disease. (13009180)
1953

Genetic Variations for Brain Disease

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Expression for genes affiliated with Brain Disease

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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:00560410.7DAG1, LAMA2, LAMB2
2sarcolemmaGO:04238310.7DMD, FKRP, DAG1, LAMA2
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, DMD, POMT1, DAG1, LAMA2
2regulation of protein glycosylationGO:06004910.7FKTN, MT3
3glycoprotein biosynthetic processGO:00910110.7FKRP, LARGE
4protein O-linked glycosylationGO:00649310.6POMT1, POMGNT1
5astrocyte developmentGO:01400210.6LAMB2, MT3
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