MSeqDR Mitochondrial disease browser phenotype pathogenic gene and muatation 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, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Brain Diseases, Metabolic, Inborn (D020739)
Parent Node: Mitochondrial Encephalomyopathies (D017237)
Parent Node: Myoclonic Epilepsies, Progressive (D020191)
..Starting node ..MERRF Syndrome (D017243)
Child Nodes:
Sister Nodes:
..Amyotrophic Lateral Sclerosis With Polyglucosan Bodies (C565955)
..Epilepsy, Progressive Myoclonic 2B (C564976)
..Epilepsy, Progressive Myoclonic 3 (C567095)
..Epilepsy, Progressive Myoclonic, 1b (C567315)
..EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
..Lafora Disease (D020192)
..MERRF Syndrome (D017243)
..Myoclonic epilepsy with choreoathetosis (C538427)
..Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia (C580388)
..Unverricht-Lundborg Syndrome (D020194)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	7087
Name:	MERRF Syndrome
Definition:	A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)
Alternative IDs:
ParentIDs:	MESH:D017237\|MESH:D020191\|MESH:D020739
TreeNumbers:	C05.651.460.620.530 \|C10.228.140.163.100.545 \|C10.228.140.490.250.650.700 \|C10.668.491.500.500.550 \|C16.320.565.189.545 \|C18.452.132.100.545 \|C18.452.648.189.545 \|C18.452.660.560.620.530
Synonyms:	Fukuhara Disease \|Fukuhara Syndrome \|MERRF \|Myoclonic Epilepsy and Ragged Red Fibers \|Myoclonic Epilepsy Associated with Ragged Red Fibers \|Myoclonic Epilepsy Associated with Ragged-Red Fibers \|Myoclonic Epilepsy with Ragged Red Fibers \|Myoclonic Epilepsy with
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: D017243 MeSH: D017243 OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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