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 muscular dystrophy (MONDO:0019950)
Parent Node: contracture (MONDO:0005307)
Parent Node: genetic peripheral neuropathy (MONDO:0020127)
Parent Node: progressive muscular dystrophy (MONDO:0016106)
Parent Node: qualitative or quantitative defects of collagen 6 (MONDO:0016148)
..Starting node ..Bethlem myopathy ()
Child Nodes:
........Bethlem myopathy 1 ()
........Bethlem myopathy 2 ()
Sister Nodes:
..Bethlem myopathy ()
..non-dystrophic myopathy with collagen 6 anomaly ()
..Ullrich congenital muscular dystrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	8029
Name:	Bethlem myopathy
Definition:	A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	benign autosomal dominant myopathy; benign congenital muscular dystrophy; Bethlem myopathy 1; Bethlem myopathy type 1; BTHLM1
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal