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: autosomal dominant limb-girdle muscular dystrophy (MONDO:0015151)
Parent Node: qualitative or quantitative defects of desmin (MONDO:0016187)
..Starting node ..autosomal dominant limb-girdle muscular dystrophy type 1E (DES) ()
Child Nodes:
Sister Nodes:
..autosomal dominant limb-girdle muscular dystrophy type 1E (DES) ()
..autosomal recessive limb-girdle muscular dystrophy type 2R ()
..myofibrillar myopathy 1 ()
..neurogenic scapuloperoneal syndrome, Kaeser type ()
..rigid spine syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18098
Name:	autosomal dominant limb-girdle muscular dystrophy type 1E (DES)
Definition:	Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions.
Alternative IDs:
ParentIDs:
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Synonyms:	LGMD1E; limb-girdle muscular dystrophy type 1E
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
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