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)
Parent Node: skeletal muscle disease (MONDO:0020120)
..Starting node ..non-dystrophic myopathy ()
Child Nodes:
........Brody myopathy ()
........congenital generalized lipodystrophy type 4 ()
........congenital myopathy ()
........early-onset myopathy with fatal cardiomyopathy ()
........hereditary continuous muscle fiber activity ()
........inclusion myopathy ()
........metabolic myopathy ()
........myofibrillar myopathy (disease) ()
........nemaline myopathy ()
........non-dystrophic myopathy with collagen 6 anomaly ()
........proximal myopathy with extrapyramidal signs ()
........proximal myopathy with focal depletion of mitochondria () L: 00412;
........rippling muscle disease ()
Sister Nodes:
..acquired skeletal muscle disease ()
..anismus ()
..Brown's tendon sheath syndrome ()
..Cyprus facial-neuromusculoskeletal syndrome ()
..diaphragm disease ()
..intellectual disability-developmental delay-contractures syndrome ()
..muscular dystrophy ()
..muscular dystrophy-white matter spongiosis syndrome ()
..myopathy due to calsequestrin and SERCA1 protein overload ()
..myopathy of extraocular muscle ()
..myotonic syndrome ()
..non-dystrophic myopathy ()
..periodic paralysis (disease) ()
..skeletal muscle neoplasm ()
..Tel Hashomer camptodactyly syndrome ()
..Volkmann contracture ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16110
Name:	non-dystrophic myopathy
Definition:	A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	non dystrophic myotonia; non-dystrophic myotonia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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