Skeletal muscle atrophy
Symptom Information:
Symptom ID: | HPO:0003202 | |||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
|
|||||||||||||||||||||||||||||||||||||||||||||
Quality: | ||||||||||||||||||||||||||||||||||||||||||||||
Cross references: |
|
|||||||||||||||||||||||||||||||||||||||||||||
Is a (Direct Parents): |
|
|||||||||||||||||||||||||||||||||||||||||||||
Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the musculature(HPO:0003011) Abnormality of muscle morphology(HPO:0011805) Skeletal muscle atrophy(HPO:0003202) MedDRA: Nervous system disorders(MedDRA:10029205) Neuromuscular disorders(MedDRA:10029317) Neuromuscular disorders NEC(MedDRA:10029318) Skeletal muscle atrophy(HPO:0003202) |
|||||||||||||||||||||||||||||||||||||||||||||
Database Frequency: | 281 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
12q14 microdeletion syndrome | (Orphanet:94063) |
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY | (OMIM:210210) |
ACTH-independent macronodular adrenal hyperplasia | (Orphanet:189427) |
AMYOTONIA CONGENITA | (OMIM:205000) |
AMYOTROPHIC DYSTONIC PARAPLEGIA | (OMIM:105300) |
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | (OMIM:612069) |
AMYOTROPHIC LATERAL SCLEROSIS 11 | (OMIM:612577) |
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | (OMIM:613954) |
AMYOTROPHIC LATERAL SCLEROSIS 17 | (OMIM:614696) |
AMYOTROPHIC LATERAL SCLEROSIS 18 | (OMIM:614808) |
AMYOTROPHIC LATERAL SCLEROSIS 8 | (OMIM:608627) |
AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES | (OMIM:205250) |
ANE syndrome | (Orphanet:157954) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Allan-Herndon-Dudley syndrome | (Orphanet:59) |
Alpha-mannosidosis | (Orphanet:61) |
Amyotrophic lateral sclerosis | (Orphanet:803) |
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies | (Orphanet:1101) |
Antenatal multiminicore disease with arthrogryposis multiplex congenita | (Orphanet:178148) |
Arthrogryposis - renal dysfunction - cholestasis | (Orphanet:2697) |
Arthrogryposis-like syndrome | (Orphanet:1149) |
Ataxia with vitamin E deficiency | (Orphanet:96) |
Ataxia-deafness-retardation syndrome | (Orphanet:1188) |
Ataxia-telangiectasia | (Orphanet:100) |
Autosomal dominant Charcot-Marie-Tooth disease type 2N | (Orphanet:228174) |
Autosomal dominant cerebellar ataxia | (Orphanet:99) |
Autosomal dominant congenital benign spinal muscular atrophy | (Orphanet:1216) |
Autosomal dominant limb-girdle muscular dystrophy type 1B | (Orphanet:264) |
Autosomal dominant progressive external ophthalmoplegia | (Orphanet:254892) |
Autosomal dominant spastic paraplegia type 12 | (Orphanet:100993) |
Autosomal dominant spastic paraplegia type 31 | (Orphanet:101011) |
Autosomal dominant spastic paraplegia type 42 | (Orphanet:171863) |
Autosomal dominant spastic paraplegia type 8 | (Orphanet:100989) |
Autosomal dominant spastic paraplegia type 9 | (Orphanet:100990) |
Autosomal recessive axonal neuropathy with neuromyotonia | (Orphanet:324442) |
Autosomal recessive distal osteolysis syndrome | (Orphanet:2776) |
Autosomal recessive limb-girdle muscular dystrophy type 2C | (Orphanet:353) |
Autosomal recessive limb-girdle muscular dystrophy type 2Q | (Orphanet:254361) |
Autosomal recessive malignant osteopetrosis | (Orphanet:667) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive spastic paraplegia type 11 | (Orphanet:2822) |
Autosomal recessive spastic paraplegia type 18 | (Orphanet:209951) |
Autosomal recessive spastic paraplegia type 55 | (Orphanet:320375) |
Autosomal recessive spastic paraplegia type 7 | (Orphanet:99013) |
Becker muscular dystrophy | (Orphanet:98895) |
Becker nevus syndrome | (Orphanet:64755) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
CANDLE syndrome | (Orphanet:325004) |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q | (OMIM:615025) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 | (OMIM:615578) |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 | (OMIM:616239) |
CYSTINOSIS, NEPHROPATHIC | (OMIM:219800) |
Camurati-Engelmann disease | (Orphanet:1328) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Carney complex | (Orphanet:1359) |
Carnitine palmitoyl transferase 1A deficiency | (Orphanet:156) |
Caudal regression sequence | (Orphanet:3027) |
Central core disease | (Orphanet:597) |
Centronuclear myopathy | (Orphanet:595) |
Charcot-Marie-Tooth disease | (Orphanet:166) |
Charcot-Marie-Tooth disease type 4F | (Orphanet:99952) |
Choreoacanthocytosis | (Orphanet:2388) |
Christianson syndrome | (Orphanet:85278) |
Cleft palate - large ears - small head | (Orphanet:2013) |
Coffin-Lowry syndrome | (Orphanet:192) |
Combined oxidative phosphorylation defect type 13 | (Orphanet:319514) |
Combined oxidative phosphorylation defect type 7 | (Orphanet:254930) |
Congenital multicore myopathy with external ophthalmoplegia | (Orphanet:98905) |
Congenital muscular dystrophy - infantile cataract - hypogonadism | (Orphanet:1875) |
Congenital muscular dystrophy due to LMNA mutation | (Orphanet:157973) |
Congenital muscular dystrophy with integrin alpha-7 deficiency | (Orphanet:34520) |
Congenital unilateral hypoplasia of depressor anguli oris | (Orphanet:1166) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Cushing disease | (Orphanet:96253) |
Cystinosis | (Orphanet:213) |
Deafness - vitiligo - achalasia | (Orphanet:3239) |
Diaphyseal medullary stenosis - bone malignancy | (Orphanet:85182) |
Duchenne and Becker muscular dystrophy | (Orphanet:262) |
Duchenne muscular dystrophy | (Orphanet:98896) |
Dysequilibrium syndrome | (Orphanet:1766) |
Early-onset spastic ataxia-neuropathy syndrome | (Orphanet:313772) |
Ehlers-Danlos syndrome due to tenascin-X deficiency | (Orphanet:230839) |
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | (Orphanet:300179) |
Ehlers-Danlos syndrome, spondylocheirodysplastic type | (Orphanet:157965) |
Extensor tendons of finger anomalies | (Orphanet:3294) |
FACES syndrome | (Orphanet:1969) |
FETAL AKINESIA DEFORMATION SEQUENCE | (OMIM:208150) |
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1 | (OMIM:105550) |
Facial onset sensory and motor neuronopathy | (Orphanet:85162) |
Facioscapulohumeral dystrophy | (Orphanet:269) |
Farber lipogranulomatosis | (Orphanet:333) |
Fatal infantile lactic acidosis with methylmalonic aciduria | (Orphanet:17) |
Fetal Gaucher disease | (Orphanet:85212) |
Fetal akinesia deformation sequence | (Orphanet:994) |
Flynn-Aird syndrome | (Orphanet:2047) |
Fowler syndrome | (Orphanet:221126) |
Frontometaphyseal dysplasia | (Orphanet:1826) |
Frontotemporal dementia with motor neuron disease | (Orphanet:275872) |
Fucosidosis | (Orphanet:349) |
GM1 gangliosidosis type 3 | (Orphanet:79257) |
Gemignani syndrome | (Orphanet:2074) |
Glycogen storage disease due to LAMP-2 deficiency | (Orphanet:34587) |
Glycogen storage disease due to glycogen branching enzyme deficiency | (Orphanet:367) |
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form | (Orphanet:308712) |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form | (Orphanet:308684) |
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form | (Orphanet:308698) |
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form | (Orphanet:308670) |
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form | (Orphanet:308655) |
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form | (Orphanet:308638) |
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | (Orphanet:308621) |
Glycogen storage disease due to muscle phosphofructokinase deficiency | (Orphanet:371) |
Glycogen storage disease due to muscle phosphorylase kinase deficiency | (Orphanet:715) |
Gordon syndrome | (Orphanet:376) |
Hereditary folate malabsorption | (Orphanet:90045) |
Hereditary myoclonus - progressive distal muscular atrophy | (Orphanet:2590) |
Hereditary sensory and autonomic neuropathy type 1 | (Orphanet:36386) |
Hereditary sensory and autonomic neuropathy type 2 | (Orphanet:970) |
Hereditary sensory and autonomic neuropathy with spastic paraplegia | (Orphanet:139578) |
Holoprosencephaly - craniosynostosis | (Orphanet:2163) |
Humerus trochlea aplasia | (Orphanet:3383) |
Hurler syndrome | (Orphanet:93473) |
Hyperkalemic periodic paralysis | (Orphanet:682) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 2 | (OMIM:615422) |
Inclusion body myositis | (Orphanet:611) |
Infantile Refsum disease | (Orphanet:772) |
Intellectual deficit - balding - patella luxation - acromicria | (Orphanet:3041) |
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus | (Orphanet:3044) |
Intellectual deficit - myopathy - short stature - endocrine defect | (Orphanet:3068) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
JMP syndrome | (Orphanet:324999) |
Juvenile amyotrophic lateral sclerosis | (Orphanet:300605) |
Juvenile hyaline fibromatosis | (Orphanet:2028) |
Juvenile primary lateral sclerosis | (Orphanet:247604) |
Kearns-Sayre syndrome | (Orphanet:480) |
Kennedy disease | (Orphanet:481) |
L1 syndrome | (Orphanet:275543) |
LEBER OPTIC ATROPHY AND DYSTONIA | (OMIM:500001) |
Laron syndrome | (Orphanet:633) |
Legg-Calvé-Perthes disease | (Orphanet:2380) |
Leprechaunism | (Orphanet:508) |
Lethal arthrogryposis - anterior horn cell disease | (Orphanet:53696) |
Lethal congenital contracture syndrome type 1 | (Orphanet:1486) |
Lethal congenital contracture syndrome type 2 | (Orphanet:137776) |
Lethal congenital contracture syndrome type 3 | (Orphanet:137783) |
Lethal multiple pterygium syndrome | (Orphanet:33108) |
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation | (Orphanet:137898) |
Limited systemic sclerosis | (Orphanet:220407) |
Localized scleroderma | (Orphanet:90289) |
Lysinuric protein intolerance | (Orphanet:470) |
MELAS | (Orphanet:550) |
MERRF | (Orphanet:551) |
MICROHYDRANENCEPHALY | (OMIM:605013) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | (OMIM:615157) |
MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE) | (OMIM:615418) |
MUSCULAR ATROPHY, MALIGNANT NEUROGENIC | (OMIM:158650) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 | (OMIM:253800) |
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL | (OMIM:616313) |
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:608931) |
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC | (OMIM:616040) |
MYOPATHY, GRANULOVACUOLAR LOBULAR, WITH ELECTRICAL MYOTONIA | (OMIM:254950) |
Malignant hyperthermia - arthrogryposis - torticollis | (Orphanet:2215) |
Marden-Walker syndrome | (Orphanet:2461) |
Marfan syndrome | (Orphanet:558) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Melorheostosis | (Orphanet:2485) |
Microcephaly - seizures - developmental delay | (Orphanet:228418) |
Mitochondrial DNA deletion syndrome with progressive myopathy | (Orphanet:352470) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial myopathy - lactic acidosis - deafness | (Orphanet:2597) |
Mitochondrial myopathy and sideroblastic anemia | (Orphanet:2598) |
Moderate multiminicore disease with hand involvement | (Orphanet:178145) |
Moebius syndrome | (Orphanet:570) |
Monomelic amyotrophy | (Orphanet:65684) |
Morse-Rawnsley-Sargent syndrome | (Orphanet:2570) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Muckle-Wells syndrome | (Orphanet:575) |
Multicentric carpo-tarsal osteolysis with or without nephropathy | (Orphanet:2774) |
Multifocal muscular fibrosis - obstructed vessels | (Orphanet:2033) |
Multiple system atrophy | (Orphanet:102) |
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus | (Orphanet:2579) |
Muscular dystrophy - white matter spongiosis | (Orphanet:1877) |
Myoclonus - cerebellar ataxia - deafness | (Orphanet:2589) |
Myopathy due to myoadenylate deaminase deficiency | (OMIM:615511) |
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 | (OMIM:600462) |
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 | (OMIM:613561) |
Myosclerosis | (Orphanet:289380) |
Myotonia permanens | (Orphanet:99735) |
NEMALINE MYOPATHY 10 | (OMIM:616165) |
NEMALINE MYOPATHY 4 | (OMIM:609285) |
NEUROLOGIC DISEASE, INFANTILE MULTISYSTEM, WITH OSSEOUS FRAGILITY | (OMIM:256720) |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC | (OMIM:613376) |
NEUROPATHY, PAINFUL | (OMIM:256870) |
Nakajo-Nishimura syndrome | (Orphanet:2615) |
Nathalie syndrome | (Orphanet:2663) |
Native American myopathy | (Orphanet:168572) |
Navajo neurohepatopathy | (Orphanet:255229) |
Neu-Laxova syndrome | (Orphanet:2671) |
Neuralgic amyotrophy | (Orphanet:2901) |
Neurogenic arthrogryposis multiplex congenita | (Orphanet:1143) |
Neuronal intranuclear inclusion disease | (Orphanet:2289) |
Neutral lipid storage disease | (Orphanet:165) |
Nijmegen breakage syndrome | (Orphanet:647) |
OSTEOGENESIS IMPERFECTA, TYPE XIII | (OMIM:614856) |
Oculogastrointestinal muscular dystrophy | (Orphanet:1876) |
Oculopharyngeal muscular dystrophy | (Orphanet:270) |
Oxoglutaricaciduria | (Orphanet:31) |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS | (OMIM:614369) |
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY,AND PULMONARY FIBROSIS | (OMIM:615704) |
POLYGLUCOSAN BODY MYOPATHY 2 | (OMIM:616199) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | (OMIM:614678) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 | (OMIM:157640) |
Pelvic dysplasia - arthrogryposis of lower limbs | (Orphanet:2840) |
Peripheral motor neuropathy - dysautonomia | (Orphanet:2400) |
Phosphoribosylpyrophosphate synthetase superactivity | (Orphanet:3222) |
Polyneuropathy - hand defect | (Orphanet:2926) |
Polyneuropathy - intellectual deficit - acromicria - premature menopause | (Orphanet:2928) |
Posterior column ataxia - retinitis pigmentosa | (Orphanet:88628) |
Primary CD59 deficiency | (Orphanet:169464) |
Primary pigmented nodular adrenocortical disease | (Orphanet:189439) |
Progressive demyelinating neuropathy with bilateral striatal necrosis | (Orphanet:217396) |
Proteasome disability syndrome | (Orphanet:324977) |
Proteus syndrome | (Orphanet:744) |
Proximal spinal muscular atrophy | (Orphanet:70) |
Proximal spinal muscular atrophy type 1 | (Orphanet:83330) |
Proximal spinal muscular atrophy type 2 | (Orphanet:83418) |
RUIJS-AALFS SYNDROME | (OMIM:616200) |
Refsum disease | (Orphanet:773) |
Renpenning syndrome | (Orphanet:3242) |
Rett syndrome | (Orphanet:778) |
Riboflavin transporter deficiency | (Orphanet:97229) |
Richards-Rundle syndrome | (Orphanet:1399) |
Roussy-Lévy syndrome | (Orphanet:3115) |
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT | (OMIM:300695) |
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT | (OMIM:616282) |
SPINAL MUSCULAR ATROPHY WITH MENTAL RETARDATION | (OMIM:271109) |
SPINAL MUSCULAR ATROPHY WITH MICROCEPHALY AND MENTAL SUBNORMALITY | (OMIM:271110) |
SPINOCEREBELLAR ATAXIA WITH RIGIDITY AND PERIPHERAL NEUROPATHY | (OMIM:183050) |
Sandhoff disease | (Orphanet:796) |
Sandhoff disease, adult form | (Orphanet:309169) |
Sandhoff disease, infantile form | (Orphanet:309155) |
Sandhoff disease, juvenile form | (Orphanet:309162) |
Sarcoidosis | (Orphanet:797) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Scleroderma | (Orphanet:801) |
Severe X-linked mitochondrial encephalomyopathy | (Orphanet:238329) |
Short stature - craniofacial anomalies - genital hypoplasia | (Orphanet:2994) |
Shoulder and girdle defects - familial intellectual deficit | (Orphanet:2580) |
Sialidosis type 1 | (Orphanet:812) |
Sialidosis type 2 | (Orphanet:87876) |
Spastic paraplegia - neuropathy - poikiloderma | (Orphanet:2821) |
Spastic paraplegia 63, autosomal recessive | (OMIM:615686) |
Spastic paraplegia 64, autosomal recessive | (OMIM:615683) |
Spastic paraplegia type 2 | (Orphanet:99015) |
Spheroid body myopathy | (Orphanet:268129) |
Spinocerebellar ataxia type 18 | (Orphanet:98771) |
Steinert myotonic dystrophy | (Orphanet:273) |
Stickler syndrome | (Orphanet:828) |
Stiff skin syndrome | (Orphanet:2833) |
Stoll-Alembik-Finck syndrome | (Orphanet:3200) |
Sézary syndrome | (Orphanet:3162) |
Tel Hashomer camptodactyly syndrome | (Orphanet:3292) |
Thyrocerebrorenal syndrome | (Orphanet:3327) |
Tricho-oculo-dermo-vertebral syndrome | (Orphanet:3354) |
Triose phosphate-isomerase deficiency | (Orphanet:868) |
Trisomy 17p | (Orphanet:261290) |
Walker-Warburg syndrome | (Orphanet:899) |
Weaver-Williams syndrome | (Orphanet:3448) |
Werner syndrome | (Orphanet:902) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked Charcot-Marie-Tooth disease type 1 | (Orphanet:101075) |
X-linked Charcot-Marie-Tooth disease type 2 | (Orphanet:101076) |
X-linked Charcot-Marie-Tooth disease type 3 | (Orphanet:101077) |
X-linked Charcot-Marie-Tooth disease type 4 | (Orphanet:101078) |
X-linked Charcot-Marie-Tooth disease type 5 | (Orphanet:99014) |
X-linked centronuclear myopathy | (Orphanet:596) |
X-linked myopathy with excessive autophagy | (Orphanet:25980) |