MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expanddisease of macromolecular complex (MONDO:0044971)
Parent Node:
expandqualitative or quantitative protein defects in neuromuscular diseases (MONDO:0016139)
..Starting node
..expandsarcoglycanopathy ()

       Child Nodes:
........expandqualitative or quantitative defects of alpha-sarcoglycan ()
........expandqualitative or quantitative defects of beta-sarcoglycan ()
........expandqualitative or quantitative defects of delta-sarcoglycan ()
........expandqualitative or quantitative defects of gamma-sarcoglycan ()



 Sister Nodes: 
..expandcaveolinopathy ()
..expandqualitative or quantitative defects of alpha-actin ()
..expandqualitative or quantitative defects of alpha-dystroglycan ()
..expandqualitative or quantitative defects of beta-myosin heavy chain (MYH7) ()
..expandqualitative or quantitative defects of calpain ()
..expandqualitative or quantitative defects of collagen 6 ()
..expandqualitative or quantitative defects of dysferlin ()
..expandqualitative or quantitative defects of dystrophin ()
..expandqualitative or quantitative defects of emerin ()
..expandqualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - ()
..expandqualitative or quantitative defects of integrin alpha-7 ()
..expandqualitative or quantitative defects of merosin ()
..expandqualitative or quantitative defects of myofibrillar proteins ()
..expandqualitative or quantitative defects of myotilin ()
..expandqualitative or quantitative defects of myotubularin ()
..expandqualitative or quantitative defects of nebulin ()
..expandqualitative or quantitative defects of perlecan ()
..expandqualitative or quantitative defects of plectin ()
..expandqualitative or quantitative defects of protein SERCA1 ()
..expandqualitative or quantitative defects of selenoprotein N1 ()
..expandqualitative or quantitative defects of telethonin ()
..expandqualitative or quantitative defects of titin ()
..expandqualitative or quantitative defects of Torsin-1A-interacting protein 1 ()
..expandqualitative or quantitative defects of TRIM32 ()
..expandqualitative or quantitative defects of tropomyosin ()
..expandqualitative or quantitative defects of troponin ()
..expandsarcoglycanopathy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16140
Name:sarcoglycanopathy
Definition:deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:qualitative or quantitative defects of sarcoglycan
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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