Abnormal muscle fiber protein expression

Symptom Information:

Symptom ID: HPO:0030089
Synonyms:
Quality:
Cross references:
Is a (Direct Parents):
HPO         Abnormal muscle fiber calpain-3
HPO         Reduced muscle collagen VI
HPO         Abnormal muscle fiber delta sarcoglycan
HPO         Abnormal muscle fiber myotilin
HPO         Abnormal muscle fiber lamin A/C
HPO         Abnormal muscle fiber valosin-containing protein
HPO         Abnormal muscle fiber merosin expression
HPO         Abnormal muscle fiber emerin
HPO         Abnormal muscle fiber laminin beta 1
HPO         Abnormal muscle fiber dystrophin expression
HPO         Abnormal muscle fiber beta sarcoglycan
HPO         Abnormal muscle fiber alpha sarcoglycan
HPO         Abnormal muscle fiber alpha dystroglycan
HPO         Abnormal muscle fiber gamma sarcoglycan
HPO         Abnormal muscle fiber dysferlin
HPO         Reduced muscle fiber perlecan
HPO         Abnormal muscle fiber desmin
Is a (Whole tree): HPO:
MedDRA:
Database Frequency: 64 / 7739
Resource: HPO

All diseases associated with this symptom:

Acetazolamide-responsive myotonia (Orphanet:99736)
Antisynthetase syndrome (Orphanet:81)
Apolipoprotein A-I deficiency (Orphanet:425)
Arthrogryposis due to muscular dystrophy (Orphanet:1155)
Autosomal recessive limb-girdle muscular dystrophy type 2H (Orphanet:1878)
Barth syndrome (Orphanet:111)
Bethlem myopathy (Orphanet:610)
Carnitine palmitoyl transferase II deficiency (Orphanet:157)
Carnitine palmitoyl transferase II deficiency, myopathic form (Orphanet:228302)
Central core disease (Orphanet:597)
Centronuclear myopathy (Orphanet:595)
Charcot-Marie-Tooth disease (Orphanet:166)
Choreoacanthocytosis (Orphanet:2388)
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (Orphanet:1369)
Congenital fiber-type disproportion myopathy (Orphanet:2020)
Congenital muscular dystrophy due to LMNA mutation (Orphanet:157973)
Corneal-cerebellar syndrome (Orphanet:3177)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
Duane anomaly - myopathy - scoliosis (Orphanet:50817)
Duchenne and Becker muscular dystrophy (Orphanet:262)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Eosinophilic fasciitis (Orphanet:3165)
Facioscapulohumeral dystrophy (Orphanet:269)
Focal myositis (Orphanet:48918)
Gemignani syndrome (Orphanet:2074)
Glycogen storage disease due to muscle glycogen phosphorylase deficiency (Orphanet:368)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Hereditary continuous muscle fiber activity (Orphanet:972)
Hyperkalemic periodic paralysis (Orphanet:682)
Hypomyelination neuropathy - arthrogryposis (Orphanet:2680)
Inclusion body myositis (Orphanet:611)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior (Orphanet:85329)
Isolated glycerol kinase deficiency (Orphanet:408)
Juvenile dermatomyositis (Orphanet:93672)
Macrophagic myofasciitis (Orphanet:592)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Marinesco-Sjögren syndrome (Orphanet:559)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial myopathy - lactic acidosis - deafness (Orphanet:2597)
Multifocal muscular fibrosis - obstructed vessels (Orphanet:2033)
Multiminicore myopathy (Orphanet:598)
Muscle-eye-brain disease (Orphanet:588)
Muscular dystrophy - white matter spongiosis (Orphanet:1877)
Myoclonus - cerebellar ataxia - deafness (Orphanet:2589)
Myopathy - growth delay - intellectual deficit - hypospadias (Orphanet:2601)
Myotonia fluctuans (Orphanet:99734)
Myotonia permanens (Orphanet:99735)
Neutral lipid storage disease (Orphanet:165)
Oculocerebrorenal syndrome (Orphanet:534)
Oculopharyngeal muscular dystrophy (Orphanet:270)
Ophthalmoplegia - myalgia - tubular aggregates (Orphanet:2742)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Polymyositis (Orphanet:732)
Posterior fusion of lumbosacral vertebrae - blepharoptosis (Orphanet:2064)
Potassium-aggravated myotonia (Orphanet:612)
Proximal spinal muscular atrophy (Orphanet:70)
Pyomyositis (Orphanet:764)
Schwartz-Jampel syndrome (Orphanet:800)
Usher syndrome (Orphanet:886)
Walker-Warburg syndrome (Orphanet:899)
Williams syndrome (Orphanet:904)
X-linked centronuclear myopathy (Orphanet:596)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)