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: non-dystrophic myopathy (MONDO:0016110)
..Starting node ..hereditary continuous muscle fiber activity ()
Child Nodes:
Sister 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 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19943
Name:	hereditary continuous muscle fiber activity
Definition:	Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal