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 structural myopathy (MONDO:0002921)
Parent Node: non-dystrophic myopathy (MONDO:0016110)
..Starting node ..myofibrillar myopathy (disease) ()
Child Nodes:
........alpha-crystallinopathy ()
........autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome ()
........central core myopathy ()
........kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome ()
........myofibrillar myopathy 1 ()
........myofibrillar myopathy 3 ()
........myofibrillar myopathy 4 ()
........myofibrillar myopathy 5 ()
........myofibrillar myopathy 6 ()
........myofibrillar myopathy 7 ()
........myofibrillar myopathy 8 ()
........spheroid body myopathy ()
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:	18943
Name:	myofibrillar myopathy (disease)
Definition:	Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.
Alternative IDs:
ParentIDs:
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Synonyms:	Alpha Beta crystallinopathy (type); desmin related myopathy (former name); desmin storage myopathy (former name); Desminopathy (type); filaminopathy (type); myofibrillar myopathies; myofibrillar myopathy; myotilinopathy (type); Protein surplus myopathy (former name); Zaspopathy (type)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal