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: familial periodic paralysis (MONDO:0000995)
Parent Node: potassium-aggravated myotonia (MONDO:0018959)
..Starting node ..hypokalemic periodic paralysis ()
Child Nodes:
........hyperkalemic periodic paralysis ()
........hypokalemic periodic paralysis, type 1 ()
........hypokalemic periodic paralysis, type 2 ()
Sister Nodes:
..acetazolamide-responsive myotonia ()
..hypokalemic periodic paralysis ()
..myotonia fluctuans ()
..myotonia permanens ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	8223
Name:	hypokalemic periodic paralysis
Definition:	Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	familial hypokalemic periodic paralysis; familial periodic paralysis; familial periodic paralysis (& [hypokalaemic]); HKPP; HOKPP; HOKPP1; hypokalemic familial periodic paralysis; hypokalemic periodic paralysis; HypoPP; periodic hypokalemic paralysis; periodic paralysis I; Westphall disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal