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: congenital anemia (MONDO:0000577)
Parent Node: constitutional sideroblastic anemia (MONDO:0020099)
Parent Node: inborn mitochondrial myopathy (MONDO:0009637)
Parent Node: mitochondrial disorder due to a defect in mitochondrial protein synthesis (MONDO:0018157)
Parent Node: myopathy, lactic acidosis, and sideroblastic anemia (MONDO:0000863)
..Starting node ..mitochondrial myopathy and sideroblastic anemia ()
Child Nodes:
........myopathy, lactic acidosis, and sideroblastic anemia 1 () L: 00039;
........myopathy, lactic acidosis, and sideroblastic anemia 2 () L: 00472;
........myopathy, lactic acidosis, and sideroblastic anemia 3 () L: 00572;
Sister Nodes:
..mitochondrial myopathy and sideroblastic anemia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	10892
Name:	mitochondrial myopathy and sideroblastic anemia
Definition:	Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	MLASA; MSA; myopathy with lactic acidosis and sideroblastic anemia; myopathy, lactic acidosis and sideroblastic anemia; sideroblastic anemia and mitochondrial myopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal