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: myopathy (MONDO:0005336)
..Starting node ..acute quadriplegic myopathy ()
Child Nodes:
Sister Nodes:
..acute quadriplegic myopathy ()
..congenital structural myopathy ()
..infectious, fungal or parasitic myopathy ()
..muscular atrophy ()
..muscular dystrophy ()
..myofascial pain syndrome ()
..myoglobinuria ()
..myopathy of extraocular muscle ()
..myopathy with eye involvement ()
..myopathy, lactic acidosis, and sideroblastic anemia ()
..myositis ()
..non-dystrophic myopathy ()
..polyglucosan body myopathy ()
..polymyalgia rheumatica ()
..spinal muscular atrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4969
Name:	acute quadriplegic myopathy
Definition:	acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: IFNGR1; PTPRZ1;
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Disease Causing ClinVar Variants
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