MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expandcongenital myopathy (MONDO:0019952)
Parent Node:
expandmyopathy with eye involvement (MONDO:0020259)
Parent Node:
expandrare disorder with ptosis (MONDO:0020169)
..Starting node
..expandcentronuclear myopathy ()

       Child Nodes:
........expandautosomal dominant centronuclear myopathy ()
........expandautosomal recessive centronuclear myopathy ()
........expandcongenital myopathy with internal nuclei and atypical cores ()
........expandmyopathy, centronuclear, 6, with fiber-type disproportion ()
........expandX-linked centronuclear myopathy ()



 Sister Nodes: 
..expandAcrootoocular syndrome ()
..expandatrioventricular defect-blepharophimosis-radial and anal defect syndrome ()
..expandBaraitser-Winter cerebrofrontofacial syndrome ()
..expandblepharophimosis, ptosis, and epicanthus inversus syndrome ()
..expandblepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ()
..expandblepharophimosis-radioulnar synostosis syndrome ()
..expandBorjeson-Forssman-Lehmann syndrome ()
..expandcamptodactyly, myopia, and fibrosis of the medial rectus muscle of eye ()
..expandcentronuclear myopathy ()
..expandChar syndrome ()
..expandcongenital fibrosis of extraocular muscles ()
..expandcongenital Horner syndrome (disease) ()
..expandcongenital myasthenic syndrome ()
..expandcongenital ptosis (disease) ()
..expandCornelia de Lange syndrome ()
..expanddopamine beta-hydroxylase deficiency ()
..expandDubowitz syndrome ()
..expandGoldberg-Shprintzen megacolon syndrome ()
..expandJacobsen syndrome ()
..expandjaw-winking syndrome ()
..expandmaternally-inherited progressive external ophthalmoplegia ()
..expandmetopic ridging-ptosis-facial dysmorphism syndrome ()
..expandmitochondrial neurogastrointestinal encephalomyopathy ()
..expandmucopolysaccharidosis type 2 ()
..expandmyotonic dystrophy type 1 ()
..expandmyotonic dystrophy type 2 ()
..expandNoonan syndrome ()
..expandoculogastrointestinal muscular dystrophy ()
..expandoculopharyngeal muscular dystrophy ()
..expandoculopharyngodistal myopathy ()
..expandptosis-strabismus-ectopic pupils syndrome ()
..expandptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome ()
..expandptosis-vocal cord paralysis syndrome ()
..expandSaethre-Chotzen syndrome ()
..expandSmith-Lemli-Opitz syndrome ()
..expandTreacher-Collins syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18947
Name:centronuclear myopathy
Definition:Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
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Synonyms:CNM; myopathy, centronuclear; myopathy, myotubular; myotubular myopathy
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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