Myopathy

Symptom Information:

Symptom ID: HPO:0003198
Synonyms:
Myopathic changes [HPO:0003198]
Disorder of skeletal AND/OR smooth muscle (disorder) [Orphanet:44050]
Myopathy [Orphanet:44050]
Myopathy [OMIM:Myopathy]
Myopathy [MedDRA:10028641]
Myopathy aggravated [MedDRA:10028641]
Myopathy steroid [MedDRA:10028641]
Myopathy steroid-induced [MedDRA:10028641]
Myopathy, unspecified [MedDRA:10028641]
Other myopathies [MedDRA:10028641]
Proximal myopathy [MedDRA:10028641]
Proximal myopathy aggravated [MedDRA:10028641]
Steroid myopathy [MedDRA:10028641]
Symptomatic inflammatory myopathy [MedDRA:10028641]
Symptomatic inflammatory myopathy in diseases classified elsewhere [MedDRA:10028641]
Acute myopathy [MedDRA:10028641]
Axial myopathy [MedDRA:10028641]
Myopathy (in some patients) [OMIM:Myopathy (in some patients)]
Myopathy (rare) [OMIM:Myopathy (rare)]
Myopathy, proximal [OMIM:Myopathy, proximal]
Proximal myopathy [OMIM:Proximal myopathy]
Myopathies [MedDRA:10028640]
Quality:
Cross references:
Orphanet:44050 "Myopathy" [Orphanet:44050]
OMIM: "Myopathy" [OMIM:Myopathy]
OMIM: "Myopathy (in some patients)" [OMIM:Myopathy (in some patients)]
OMIM: "Myopathy (rare)" [OMIM:Myopathy (rare)]
OMIM: "Myopathy, proximal" [OMIM:Myopathy, proximal]
OMIM: "Proximal myopathy" [OMIM:Proximal myopathy]
UMLS:C0026848 "Myopathy" [HPO:0003198]
UMLS:C0026848 "Myopathy" [Orphanet:44050]
Is a (Direct Parents):
HPO         Abnormality of muscle morphology
MedDRA Muscle disorders
Orphanet Muscle anomalies
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the musculature(HPO:0003011)
          Abnormality of muscle morphology(HPO:0011805)
             Myopathy(HPO:0003198)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Muscle disorders(MedDRA:10028302)
       Myopathy(HPO:0003198)
Database Frequency: 151 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
ACETYL-CoA CARBOXYLASE DEFICIENCY (OMIM:613933)
ADENOSINE MONOPHOSPHATE DEAMINASE 1 (OMIM:102770)
AXIAL OSTEOMALACIA (OMIM:109130)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Adrenomyodystrophy (Orphanet:977)
Alpers syndrome (Orphanet:726)
Arthrogryposis due to muscular dystrophy (Orphanet:1155)
Autosomal dominant Emery-Dreifuss muscular dystrophy (Orphanet:98853)
Autosomal dominant limb-girdle muscular dystrophy type 1G (Orphanet:55596)
Autosomal dominant optic atrophy and congenital deafness (Orphanet:3212)
Autosomal recessive limb girdle muscular dystrophy type 2A (Orphanet:267)
Autosomal recessive limb-girdle muscular dystrophy type 2H (Orphanet:1878)
B4GALT1-CDG (Orphanet:79332)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Barth syndrome (Orphanet:111)
Bethlem myopathy (Orphanet:610)
CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH (OMIM:212130)
CARNITINE DEFICIENCY, MYOPATHIC (OMIM:212160)
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
CYSTINOSIS, NEPHROPATHIC (OMIM:219800)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carnitine palmitoyl transferase II deficiency (Orphanet:157)
Carnitine palmitoyl transferase II deficiency, myopathic form (Orphanet:228302)
Carnitine palmitoyl transferase II deficiency, severe infantile form (Orphanet:228305)
Carnitine uptake deficiency (Orphanet:158)
Central core disease (Orphanet:597)
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (Orphanet:1171)
Childhood-onset hypophosphatasia (Orphanet:247667)
Choreoacanthocytosis (Orphanet:2388)
Combined immunodeficiency due to CRAC channel dysfunction (Orphanet:169090)
Combined immunodeficiency due to STIM1 deficiency (Orphanet:317430)
Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay (Orphanet:330054)
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)
Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect (Orphanet:280671)
Congenital muscular dystrophy with integrin alpha-7 deficiency (Orphanet:34520)
Cushing disease (Orphanet:96253)
Cushing syndrome (Orphanet:553)
Cystinosis (Orphanet:213)
Diaphyseal medullary stenosis - bone malignancy (Orphanet:85182)
Distal myopathy (Orphanet:599)
Distal myopathy with posterior leg and anterior hand involvement (Orphanet:63273)
Distal myopathy, Welander type (Orphanet:603)
Dorfman-Chanarin disease (Orphanet:98907)
Duane anomaly - myopathy - scoliosis (Orphanet:50817)
Duchenne and Becker muscular dystrophy (Orphanet:262)
Early-onset myopathy with fatal cardiomyopathy (Orphanet:289377)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type (Orphanet:300179)
Emery-Dreifuss muscular dystrophy (Orphanet:261)
Epidermolysis bullosa simplex with muscular dystrophy (Orphanet:257)
Familial isolated dilated cardiomyopathy (Orphanet:154)
Familial isolated hypoparathyroidism (Orphanet:2238)
Familial partial lipodystrophy, Dunnigan type (Orphanet:2348)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Fingerprint body myopathy (Orphanet:97232)
Focal myositis (Orphanet:48918)
Gamma-glutamylcysteine synthetase deficiency (Orphanet:33574)
Generalized congenital lipodystrophy with myopathy (Orphanet:228429)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to aldolase A deficiency (Orphanet:57)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Glycogen storage disease due to muscle glycogen phosphorylase deficiency (Orphanet:368)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet:713)
Glycogen storage disease due to phosphoglycerate mutase deficiency (Orphanet:97234)
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Heart-hand syndrome, Slovenian type (Orphanet:168796)
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia (Orphanet:79091)
Hereditary myopathy with lactic acidosis due to ISCU deficiency (Orphanet:43115)
Hereditary xanthinuria (Orphanet:3467)
Hyperkalemic periodic paralysis (Orphanet:682)
Hypokalemic periodic paralysis (Orphanet:681)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 3 (OMIM:615424)
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Orphanet:52430)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit, X-linked, Zorick type (Orphanet:85337)
Isolated glycerol kinase deficiency (Orphanet:408)
Leber hereditary optic neuropathy (Orphanet:104)
Leigh syndrome with nephrotic syndrome (Orphanet:255249)
Lethal infantile mitochondrial myopathy (Orphanet:254857)
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 2 (OMIM:154275)
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3 (OMIM:154276)
MELAS (Orphanet:550)
MERRF (Orphanet:551)
MUSCULAR DYSTROPHY, BARNES TYPE (OMIM:158800)
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE (OMIM:609456)
MYOPATHY DUE TO MALATE-ASPARTATE SHUTTLE DEFECT (OMIM:254960)
MYOPATHY WITH ABNORMAL LIPID METABOLISM (OMIM:255100)
MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA (OMIM:255140)
MYOPATHY WITH STORAGE OF GLYCOPROTEINS AND GLYCOSAMINOGLYCANS (OMIM:160570)
MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET (OMIM:609500)
MYOPATHY, CONGENITAL (OMIM:255300)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, X-LINKED (OMIM:300580)
Mandibuloacral dysplasia (Orphanet:2457)
Marinesco-Sjögren syndrome (Orphanet:559)
McLeod neuroacanthocytosis syndrome (Orphanet:59306)
Mitochondrial myopathy - lactic acidosis - deafness (Orphanet:2597)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Multiminicore myopathy (Orphanet:598)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Multiple endocrine neoplasia type 2 (Orphanet:653)
Multiple endocrine neoplasia type 2B (Orphanet:247709)
Muscle-eye-brain disease (Orphanet:588)
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus (Orphanet:2579)
Muscular pseudohypertrophy - hypothyroidism (Orphanet:2349)
Myopathy and diabetes mellitus (Orphanet:2596)
Myotonia fluctuans (Orphanet:99734)
NARP syndrome (Orphanet:644)
NEMALINE MYOPATHY 5 (OMIM:605355)
NEMALINE MYOPATHY 6 (OMIM:609273)
Neurogenic arthrogryposis multiplex congenita (Orphanet:1143)
Neutral lipid storage disease (Orphanet:165)
Neutral lipid storage myopathy (Orphanet:98908)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
OCULAR MYOPATHY WITH CURARE SENSITIVITY (OMIM:257600)
Oculogastrointestinal muscular dystrophy (Orphanet:1876)
Oculopharyngeal muscular dystrophy (Orphanet:270)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 (OMIM:613077)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Partial acquired lipodystrophy (Orphanet:79087)
Perrault Syndrome 5 (OMIM:616138)
Primary lipodystrophy (Orphanet:90970)
Primary pigmented nodular adrenocortical disease (Orphanet:189439)
Proteus syndrome (Orphanet:744)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Qazi-Markouizos syndrome (Orphanet:3010)
Richieri Costa-da Silva syndrome (Orphanet:3101)
Sanjad-Sakati syndrome (Orphanet:2323)
Schwartz-Jampel syndrome (Orphanet:800)
Severe X-linked mitochondrial encephalomyopathy (Orphanet:238329)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)
Spheroid body myopathy (Orphanet:268129)
Stormorken-Sjaastad-Langslet syndrome (Orphanet:3204)
Triose phosphate-isomerase deficiency (Orphanet:868)
Tubular aggregate myopathy (Orphanet:2593)
Usher syndrome (Orphanet:886)
Very long chain acyl-CoA dehydrogenase deficiency (Orphanet:26793)
Vici syndrome (Orphanet:1493)
Williams syndrome (Orphanet:904)
Wolfram syndrome (Orphanet:3463)
X-linked Emery-Dreifuss muscular dystrophy (Orphanet:98863)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked immunoneurologic disorder (Orphanet:2571)
X-linked myopathy with excessive autophagy (Orphanet:25980)
Xanthinuria type I (Orphanet:93601)
[DEL] LEBER OPTIC ATROPHY (OMIM:535000)
[DEL] SENGERS SYNDROME (OMIM:212350)