MCID: BRN029
MIFTS: 58

Brain Disease malady

Neuronal diseases category
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Summaries for Brain Disease

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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 based summary: Brain Disease, also known as encephalopathy, is related to congenital muscular dystrophy and polymyositis. 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 Other types of O-glycan biosynthesis and Agrin Interactions at Neuromuscular Junction. The compounds mannose and alpha-d-mannoside have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related mouse phenotypes are other and craniofacial.

Aliases & Classifications for Brain Disease

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Sources:
8Disease Ontology, 22GTR, 43NINDS, 44Novoseek, 62UMLS, 57SNOMED-CT, 34MeSH, 25ICD10
See all sources

Brain Disease, Aliases & Descriptions:

Name: Brain Disease 8
Encephalopathy 8 22 43 44
 
Encephalopathies 62
Brain Diseases 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:936
MeSH34 D001927
ICD1025 G93.4

Related Diseases for Brain Disease

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

(show top 50)    (show all 739)
idRelated DiseaseScoreTop Affiliating Genes
1congenital muscular dystrophy30.6LARGE
2polymyositis29.8LAMA2, DMD
3myopathy29.7DAG1, DMD, SGCA, LAMB2, LAMA2, POMGNT1
4congenital heart disease29.5DMD, LAMA2, FKRP
5dilated cardiomyopathy29.5DMD, FKRP, SGCA, LAMA2
6mental retardation29.5FKTN, POMGNT1, CA2, FKRP, POMT1, DMD
7neuropathy29.4FKRP, FKTN, DAG1, DMD, SGCA, LAMB2
8muscular dystrophy-dystroglycanopathy , type a, 129.3FKRP, FKTN, POMT1, POMGNT1, LAMA2, LARGE
9walker-warburg syndrome28.7FKRP, FKTN, POMT1, POMGNT1, LAMA2, LARGE
10muscular dystrophy28.6POMT1, POMGNT1, LAMA2, LARGE, LAMB2, SGCA
11hypertensive encephalopathy10.9
12wernicke encephalopathy10.8
13toxic encephalopathy10.8
14creutzfeldt-jakob disease10.7
15glycine encephalopathy10.6
16lactic acidosis10.6
17ethylmalonic encephalopathy10.6
18infantile epileptic encephalopathy10.6
19scrapie10.6
20subcortical arteriosclerotic encephalopathy10.6
21muscle eye brain disease10.6
22variant creutzfeldt-jakob disease10.5
23mitochondrial neurogastrointestinal encephalopathy disease10.5
24hemorrhagic shock and encephalopathy syndrome10.5
25early myoclonic encephalopathy10.5
26status epilepticus10.5
27autoimmune thyroiditis10.5
28familial encephalopathy with neuroserpin inclusion bodies10.5
29west syndrome10.5
30binswanger's disease10.4
31liver cirrhosis10.4
32ohtahara syndrome10.4
33diabetic encephalopathy10.4
34brain edema10.4
35influenza10.4
36becker muscular dystrophy10.4DMD
37melas syndrome10.4
38cerebritis10.4
39cat-scratch disease10.4
40schizophrenia10.3
41dravet syndrome10.3
42acute encephalopathy with biphasic seizures and late reduced diffusion10.3
43peho syndrome10.3
44kernicterus10.3
45eclampsia10.3
46lennox-gastaut syndrome10.3
47optic atrophy10.3
48acute liver failure10.3
49wernicke-korsakoff syndrome10.3
50leigh disease10.3

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



Diseases related to brain disease

Symptoms for Brain Disease

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Drugs & Therapeutics for Brain Disease

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Drug clinical trials:

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Search NIH Clinical Center for Brain Disease

Genetic Tests for Brain Disease

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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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MalaCards organs/tissues related to Brain Disease:

32
Brain, Eye, Testes, Lung, Endothelial, Bone, Cortex, Heart, Liver, Thyroid, Skin, Monocytes, Nk cells, T cells

Animal Models for Brain Disease or affiliated genes

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Publications for Brain Disease

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Articles related to Brain Disease:

(show top 50)    (show all 424)
idTitleAuthorsYear
1
Medical co-morbidity, brain disease, and the future of geriatric psychiatry. (25307312)
2014
2
Oncological emergencies: increased intracranial pressure in solid tumours' metastatic brain disease. (25016783)
2014
3
Metabolic syndrome: a brain disease. (22913633)
2012
4
Clinical Behavior in Metastatic Brain Disease Is Not Influenced by the Immunological Defense Mediated by CD57 NK-Cells. (22312544)
2012
5
ATP-binding cassette transporters in inflammatory brain disease. (21827405)
2011
6
Schizophrenia, brain disease and meta-analyses: integrating the pieces and testing Fusar-Poli's hypothesis. (19651477)
2010
7
Muscle-Eye-Brain disease. (20215985)
2010
8
Seizure aggravation caused by antiepileptic drugs in a patient with muscle-eye-brain disease. (20934392)
2010
9
Comment on "schizophrenia, brain disease and meta-analyses: integrating the pieces and testing Fusar-Poli's hypothesis". (19800744)
2010
10
An unusual presentation of muscle-eye-brain disease: severe eye abnormalities with mild muscle and brain involvement. (19679478)
2009
11
Schizophrenia as a progressive brain disease. (18513927)
2008
12
Efficacy and safety of risperidone in the treatment of elderly patients suffering from organic brain disease (organic brain syndrome): results from a double-blind, randomized, placebo-controlled clinical trial. (17333131)
2007
13
Muscle-eye-brain disease. Presentation of one case with genetic study]. (15954036)
2005
14
Is migraine a progressive brain disease? (14747508)
2004
15
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. (15121789)
2004
16
Neuroimaging of animal models of brain disease. (12697629)
2003
17
The role of thiamine deficiency in alcoholic brain disease. (15303623)
2003
18
Hyponatremia in acute brain disease: the cerebral salt wasting syndrome. (11836078)
2002
19
Deficiency of alpha-dystroglycan in muscle-eye-brain disease. (11883957)
2002
20
ACE gene polymorphism in patients with ischemic brain disease]. (12830537)
2001
21
A child with muscle-eye-brain disease. Ophthalmological and neurological characteristics. (11167293)
2001
22
Pharmacotherapy of disruptive behaviors associated with brain disease. (11291025)
2000
23
Neuroengineering models of brain disease. (11701524)
2000
24
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
25
The neuropsychiatry of subcortical ischemic brain disease. (11122907)
1999
26
Cerebrovascular risk factors and depression in older primary care patients: testing a vascular brain disease model of depression. (10438697)
1999
27
Increased titer of anticardiolipin antibodies represents the risk for the development of ischemic brain disease in persons below 50. (9623354)
1998
28
Two separate envelope regions influence induction of brain disease by a polytropic murine retrovirus (FMCF98). (8676516)
1996
29
Degenerative brain disease. (8813758)
1996
30
Patterns of lipid change in serum as a risk factor for ischemic brain disease]. (8114988)
1993
31
Diagnosis of enterovirus brain disease in hypogammaglobulinemic patients by polymerase chain reaction. (8268346)
1993
32
Neuronal-astrocytic interactions in brain development, brain function and brain disease. (1664174)
1991
33
Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. (1792864)
1991
34
Some comments on the Peschels' model of biologically-based brain disease. (2377413)
1990
35
Muscle-eye-brain disease (MEB) (2360704)
1990
36
Interactive effects of age and brain disease on reaction time. (860938)
1977
37
Temporal orientation in patients with brain disease. (1211929)
1975
38
Choroid plexus papilloma mimicking degenerative brain disease in childhood. (5060466)
1972
39
Pseudodementia as initial syndrome in obscure brain disease. (5347003)
1969
40
POLYOMA-LIKE VIRIONS IN HUMAN DEMYELINATING BRAIN DISEASE. (14339302)
1965
41
HYPNOTICALLY ORIENTED PSYCHOTHERAPY IN ORGANIC BRAIN DISEASE: AN ADDENDUM. (14136314)
1964
42
Brain damage from chronic alcoholism: the diagnosis of intermediate stage of alcoholic brain disease. (13798928)
1960
43
Electroencephalographic and convulsive responses of patients with brain disease to methetharimide. (13694344)
1960
44
Early psychologic reactions associated with organic brain disease in the aged. (13632970)
1959
45
Carbohydrate metabolism in brain disease. IV. Effect of hydrocortisone and corticotropin (ACTH) on the metabolic effects of administered glucose in patients with chronic schizophrenic and manic-depressive psychoses. (13227650)
1955
46
Serial administration of the "amytal test" for brain disease; its diagnostic and prognostic value. (13123587)
1954
47
The diagnostic use of sodium amytal in organic brain disease. (13038801)
1952
48
Changes in cerebral veins in hypertensive brain disease and their relation to cerebral hemorrhage; clinical pathologic study. (21012278)
1945
49
Lectures on Paralysis as an Effect of Brain-Disease. (20748286)
1876
50
Cases of Convulsion from Organic Brain-Disease. (20747631)
1874

Variations for Brain Disease

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Expression for genes affiliated with Brain Disease

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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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Compounds for genes affiliated with Brain Disease

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Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Brain Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose449.8GCNT2
2alpha-d-mannoside449.7POMGNT1, MGAT1
3acetylcholine44 50 28 24 1113.3LAMB2, DMD, DAG1
4manganese44 2410.1CA2, POMT1, POMGNT1
5creatinine448.6CA2, FKRP, LAMA2, SGCA, DMD
6heparin44 28 24 1111.5DAG1, DMD, LAMB2, LAMA2, CA2
7polysaccharide448.2DAG1, MGAT1, CA2, GCNT2
8calcium44 50 24 1111.0DAG1, DMD, LAMB2, LAMA2, POMT1, CA2

GO Terms for genes affiliated with Brain Disease

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

idNameGO IDScoreTop Affiliating Genes
1costamereGO:0430349.7DAG1, DMD
2filopodiumGO:0301759.5DMD, DAG1
3basement membraneGO:0056049.5LAMA2, LAMB2, DAG1
4membrane raftGO:0451219.3SGCA, DMD, DAG1
5cytoskeletonGO:0058569.3SGCA, DMD, DAG1
6dystrophin-associated glycoprotein complexGO:0160109.2DAG1, DMD, SGCA, FKRP
7sarcolemmaGO:0423838.9FKRP, LAMA2, SGCA, DMD, DAG1
8Golgi membraneGO:0001398.3MGAT1, POMGNT1, FKTN, FKRP, GCNT2
9integral component of membraneGO:0160217.2DAG1, MGAT1, SGCA, POMGNT1, POMT1, FKTN

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

idNameGO IDScoreTop Affiliating Genes
1protein O-linked glycosylationGO:0064939.9POMT1, POMGNT1
2glycoprotein biosynthetic processGO:0091019.7FKRP, LARGE
3myelination in peripheral nervous systemGO:0220119.6LAMA2, DAG1
4muscle organ developmentGO:0075179.1FKTN, LAMA2, SGCA, DMD
5extracellular matrix organizationGO:0301988.7DAG1, DMD, LAMB2, LAMA2, POMT1
6protein glycosylationGO:0064868.7MGAT1, LARGE, GCNT2

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

idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:0021629.9DMD, DAG1
2vinculin bindingGO:0171669.8DMD, DAG1
3structural constituent of muscleGO:0083079.8DMD, DAG1
4transferase activityGO:0167409.6FKRP, FKTN
5acetylglucosaminyltransferase activityGO:0083759.4MGAT1, LARGE

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet