MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Leigh syndrome (MONDO:0009723)
Parent Node: mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA (MONDO:0016793)
..Starting node ..maternally-inherited Leigh syndrome ()
Child Nodes:
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:	16814
Name:	maternally-inherited Leigh syndrome
Definition:	Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Leigh disease, maternally inherited; maternally inherited Leigh syndrome; maternally-inherited infantile subacute necrotizing encephalopathy; maternally-inherited Leigh disease; MILS; mitochondrial DNA-associated Leigh syndrome; Subacute necrotizing encephalomyelopathy maternally inherited
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal