MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: neurodegenerative disease (MONDO:0005559)
..Starting node ..Marchiafava-Bignami disease ()
Child Nodes:
Sister Nodes:
..amyotrophic lateral sclerosis ()
..brachial amyotrophic diplegia ()
..cerebellar degeneration ()
..cerebral degeneration ()
..corticobasal degeneration disorder ()
..demyelinating disease ()
..eye degenerative disease ()
..inherited neurodegenerative disorder ()
..Marchiafava-Bignami disease ()
..neuroaxonal dystrophy ()
..neurodegenerative disease with chorea ()
..neurodegenerative disease with dementia ()
..olivopontocerebellar atrophy ()
..optic atrophy ()
..primary progressive apraxia of speech ()
..secondary Parkinson disease ()
..senile degeneration of brain ()
..synucleinopathy ()
..tauopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16370
Name:	Marchiafava-Bignami disease
Definition:	Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis , aphasia , abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism.
Alternative IDs:
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Synonyms:	acute Marchiafava-Bignami disease; chronic Marchiafava-Bignami syndrome; Marchiafava Bignami disease; MBD; metabolic bone disease; metabolic bone disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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