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: hereditary optic neuropathy (MONDO:0020249)
Parent Node: mitochondrial disease with dilated cardiomyopathy (MONDO:0016335)
Parent Node: mitochondrial disease with eye involvement (MONDO:0020265)
Parent Node: mitochondrial disease with hypertrophic cardiomyopathy (MONDO:0016327)
Parent Node: mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (MONDO:0016793)
..Starting node ..Leber plus disease ()
Child Nodes:
........Leber optic atrophy and dystonia () L: 00149;
........optic atrophy with demyelinating disease of CNS () L: 00656;
Sister Nodes:
..hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation ()
..Leber hereditary optic neuropathy () L: 00072;
..Leber plus disease ()
..maternally-inherited diabetes and deafness () L: 00165;
..maternally-inherited Leigh syndrome ()
..maternally-inherited mitochondrial dystonia ()
..maternally-inherited mitochondrial myopathy ()
..MELAS syndrome () L: 00163;
..MERRF syndrome () L: 00162;
..mitochondrial non-syndromic sensorineural deafness () L: 00159;
..mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure () L: 00051;
..NARP syndrome () L: 00168;
..periodic paralysis with later-onset distal motor neuropathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20478
Name:	Leber plus disease
Definition:	Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	LHON plus disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal