Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature of the limbs (HP:0009127)help
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Limb muscle weakness (HP:0003690)help
..Starting node
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Upper limb muscle weakness (HP:0003484)help
Term ID: 3484
Name: Upper limb muscle weakness
Synonym: Decreased arm strength; Weak arm
Definition: Weakness of the muscles of the arms.
Comments:
Reference: HP:0003484
Genes and Diseases:
 
       Child Nodes:
........expandProximal muscle weakness in upper limbs (HP:0008997) help
................... HP:0031108 Triceps weakness
........expandWrist drop (HP:0031189) help

 Sister Nodes: 
..expandFoot dorsiflexor weakness (HP:0009027) help
..expandLower limb muscle weakness (HP:0007340) help
..expandProximal muscle weakness in lower limbs (HP:0008994) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003484HP:0003484Upper limb muscle weakness0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0003484HP:0003484Upper limb muscle weakness0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0003484HP:0003484Upper limb muscle weakness0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0003484HP:0003484Upper limb muscle weakness0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0003484HP:0003484Upper limb muscle weakness0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0003484HP:0003484Upper limb muscle weakness0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0003484HP:0003484Upper limb muscle weakness0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0003484HP:0003484Upper limb muscle weakness0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0003484HP:0003484Upper limb muscle weakness0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003484HP:0003484Upper limb muscle weakness0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0003484HP:0003484Upper limb muscle weakness0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0003484HP:0003484Upper limb muscle weakness0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0003484HP:0003484Upper limb muscle weakness0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0003484HP:0003484Upper limb muscle weakness0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003484HP:0003484Upper limb muscle weakness0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0003484HP:0003484Upper limb muscle weakness0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0003484HP:0003484Upper limb muscle weakness0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0003484HP:0003484Upper limb muscle weakness0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003484HP:0003484Upper limb muscle weakness0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0003484HP:0003484Upper limb muscle weakness0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0003484HP:0003484Upper limb muscle weakness0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0003484HP:0003484Upper limb muscle weakness0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0003484HP:0003484Upper limb muscle weakness0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0003484HP:0003484Upper limb muscle weakness0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent3
HP:0003484HP:0003484Upper limb muscle weakness0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003484HP:0003484Upper limb muscle weakness0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003484HP:0003484Upper limb muscle weakness0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyria72
HP:0003484HP:0003484Upper limb muscle weakness0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0003484HP:0003484Upper limb muscle weakness0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040284 - Very rare57
HP:0003484HP:0003484Upper limb muscle weakness0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0003484HP:0003484Upper limb muscle weakness0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0003484HP:0003484Upper limb muscle weakness0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003484HP:0003484Upper limb muscle weakness0DNMT3B CL E G H17892979OMIM:619478FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD479
HP:0003484HP:0003484Upper limb muscle weakness0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0003484HP:0003484Upper limb muscle weakness0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0003484HP:0003484Upper limb muscle weakness0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003484HP:0003484Upper limb muscle weakness0EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D.58
HP:0003484HP:0003484Upper limb muscle weakness0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive.58
HP:0003484HP:0003484Upper limb muscle weakness0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0003484HP:0003484Upper limb muscle weakness0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0003484HP:0003484Upper limb muscle weakness0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003484HP:0003484Upper limb muscle weakness0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H.158
HP:0003484HP:0003484Upper limb muscle weakness0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0003484HP:0003484Upper limb muscle weakness0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0003484HP:0003484Upper limb muscle weakness0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0003484HP:0003484Upper limb muscle weakness0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0003484HP:0003484Upper limb muscle weakness0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0003484HP:0003484Upper limb muscle weakness0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0003484HP:0003484Upper limb muscle weakness0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0003484HP:0003484Upper limb muscle weakness0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003484HP:0003484Upper limb muscle weakness0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0003484HP:0003484Upper limb muscle weakness0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0003484HP:0003484Upper limb muscle weakness0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R1934
HP:0003484HP:0003484Upper limb muscle weakness0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0003484HP:0003484Upper limb muscle weakness0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0003484HP:0003484Upper limb muscle weakness0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0003484HP:0003484Upper limb muscle weakness0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003484HP:0003484Upper limb muscle weakness0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003484HP:0003484Upper limb muscle weakness0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0003484HP:0003484Upper limb muscle weakness0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003484HP:0003484Upper limb muscle weakness0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0003484HP:0003484Upper limb muscle weakness0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0003484HP:0003484Upper limb muscle weakness0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0003484HP:0003484Upper limb muscle weakness0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0003484HP:0003484Upper limb muscle weakness0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0003484HP:0003484Upper limb muscle weakness0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003484HP:0003484Upper limb muscle weakness0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0003484HP:0003484Upper limb muscle weakness0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003484HP:0003484Upper limb muscle weakness0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0003484HP:0003484Upper limb muscle weakness0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003484HP:0003484Upper limb muscle weakness0MPZ CL E G H43597225OMIM:607677Charcot-Marie-Tooth disease, axonal, type 2I.134
HP:0003484HP:0003484Upper limb muscle weakness0MPZ CL E G H43597225OMIM:607791Charcot-Marie-Tooth disease, dominant intermediate D.134
HP:0003484HP:0003484Upper limb muscle weakness0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0003484HP:0003484Upper limb muscle weakness0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003484HP:0003484Upper limb muscle weakness0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0003484HP:0003484Upper limb muscle weakness0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0003484HP:0003484Upper limb muscle weakness0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0003484HP:0003484Upper limb muscle weakness0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0003484HP:0003484Upper limb muscle weakness0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0003484HP:0003484Upper limb muscle weakness0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003484HP:0003484Upper limb muscle weakness0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040281 - Very frequent118
HP:0003484HP:0003484Upper limb muscle weakness0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0003484HP:0003484Upper limb muscle weakness0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0003484HP:0003484Upper limb muscle weakness0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0003484HP:0003484Upper limb muscle weakness0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0003484HP:0003484Upper limb muscle weakness0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0003484HP:0003484Upper limb muscle weakness0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0003484HP:0003484Upper limb muscle weakness0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0003484HP:0003484Upper limb muscle weakness0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0003484HP:0003484Upper limb muscle weakness0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0003484HP:0003484Upper limb muscle weakness0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0003484HP:0003484Upper limb muscle weakness0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040283 - Occasional40
HP:0003484HP:0003484Upper limb muscle weakness0PPOX CL E G H54989280ORPHA:79473Porphyria variegata41
HP:0003484HP:0003484Upper limb muscle weakness0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0003484HP:0003484Upper limb muscle weakness0REEP1 CL E G H6505525786OMIM:62001187
HP:0003484HP:0003484Upper limb muscle weakness0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0003484HP:0003484Upper limb muscle weakness0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0003484HP:0003484Upper limb muscle weakness0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0003484HP:0003484Upper limb muscle weakness0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003484HP:0003484Upper limb muscle weakness0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0003484HP:0003484Upper limb muscle weakness0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0003484HP:0003484Upper limb muscle weakness0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0003484HP:0003484Upper limb muscle weakness0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0003484HP:0003484Upper limb muscle weakness0SLC12A6 CL E G H999010914OMIM:620068163
HP:0003484HP:0003484Upper limb muscle weakness0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0003484HP:0003484Upper limb muscle weakness0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0003484HP:0003484Upper limb muscle weakness0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0003484HP:0003484Upper limb muscle weakness0SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003484HP:0003484Upper limb muscle weakness0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0003484HP:0003484Upper limb muscle weakness0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0003484HP:0003484Upper limb muscle weakness0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040283 - Occasional171
HP:0003484HP:0003484Upper limb muscle weakness0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0003484HP:0003484Upper limb muscle weakness0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0003484HP:0003484Upper limb muscle weakness0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0003484HP:0003484Upper limb muscle weakness0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0003484HP:0003484Upper limb muscle weakness0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0003484HP:0003484Upper limb muscle weakness0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040281 - Very frequent18
HP:0003484HP:0003484Upper limb muscle weakness0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0003484HP:0003484Upper limb muscle weakness0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0003484HP:0003484Upper limb muscle weakness0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003484HP:0003484Upper limb muscle weakness0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003484HP:0003484Upper limb muscle weakness0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0003484HP:0003484Upper limb muscle weakness0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0003484HP:0003484Upper limb muscle weakness0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003484HP:0003484Upper limb muscle weakness0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C.
HP:0003484HP:0003484Upper limb muscle weakness0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189
HP:0003484HP:0031189Wrist drop1ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal.96
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040283 - Occasional304
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0003484HP:0031189Wrist drop1CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040283 - Occasional11
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040282 - Frequent72
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040284 - Very rare
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040284 - Very rare286
HP:0003484HP:0031189Wrist drop1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040283 - Occasional286
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040282 - Frequent7
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0003484HP:0031189Wrist drop1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0003484HP:0031189Wrist drop1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040284 - Very rare
HP:0003484HP:0031189Wrist drop1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040284 - Very rare105
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040282 - Frequent41
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0003484HP:0031189Wrist drop1REEP1 CL E G H6505525786OMIM:62001187
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1SLC12A6 CL E G H999010914OMIM:620068163
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0003484HP:0008997Proximal muscle weakness in upper limbs1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003484HP:0031108Triceps weakness2ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0003484HP:0031108Triceps weakness2AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0003484HP:0031108Triceps weakness2AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional1
HP:0003484HP:0031108Triceps weakness2CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional74
HP:0003484HP:0031108Triceps weakness2CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional53
HP:0003484HP:0031108Triceps weakness2CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional88
HP:0003484HP:0031108Triceps weakness2CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional139
HP:0003484HP:0031108Triceps weakness2COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0003484HP:0031108Triceps weakness2DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional91
HP:0003484HP:0031108Triceps weakness2DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040283 - Occasional600
HP:0003484HP:0031108Triceps weakness2FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID.1
HP:0003484HP:0031108Triceps weakness2JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003484HP:0031108Triceps weakness2LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional124
HP:0003484HP:0031108Triceps weakness2MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0003484HP:0031108Triceps weakness2MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional72
HP:0003484HP:0031108Triceps weakness2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0003484HP:0031108Triceps weakness2POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0003484HP:0031108Triceps weakness2RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional73
HP:0003484HP:0031108Triceps weakness2SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional263


Genes (104) :ACTA1 ADAR ADSS1 AGRN AK9 AKT1 ANO5 ANXA11 ATP6 BAP1 BIN1 BSCL2 CADM3 CCND1 CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COL25A1 COX1 COX3 CPOX CRPPA CYP7B1 DNM2 DNMT3B DOK7 DYSF EGR2 EMD ERGIC1 FBXO38 FGD4 FHL1 FUZ GALC GARS1 GDAP1 GIPC1 GMPPB GYG1 HEXB HMBS JAG1 JAG2 KY LAMA2 LDB3 LIPE LMNA LPIN1 LRP4 MFN2 MORC2 MPZ MTMR14 MTRFR MUSK MYF6 MYH7 NEFH NEFL NF2 NOTCH2NLC NUP62 PDGFB PIEZO2 PIK3CA PLOD1 POMT1 POU3F4 PPOX RAPSN REEP1 RYR1 SBF1 SBF2 SCN4A SCYL2 SGCG SH3TC2 SLC12A6 SMARCB1 SMARCE1 SMO SMPX SPART SPG7 SUFU SYNE1 SYNE2 TCAP TERT TFG TMEM43 TRAF7 TRPV4 VCP VHL VWA1 YARS1 ZFYVE26

Diseases (86) :OMIM:616852 ORPHA:225154 ORPHA:482601 ORPHA:98913 ORPHA:2495 ORPHA:206549 ORPHA:399096 OMIM:619733 ORPHA:169189 ORPHA:139536 OMIM:619519 ORPHA:892 ORPHA:457050 ORPHA:276435 OMIM:601462 ORPHA:1143 ORPHA:99845 ORPHA:79273 ORPHA:352479 ORPHA:100986 OMIM:270800 OMIM:160150 OMIM:619478 ORPHA:268 ORPHA:45448 OMIM:607678 OMIM:605253 ORPHA:98863 OMIM:615575 OMIM:609311 ORPHA:1136 ORPHA:206448 ORPHA:206443 OMIM:601472 OMIM:600794 ORPHA:101097 OMIM:607706 ORPHA:98897 ORPHA:363623 ORPHA:263297 ORPHA:309169 ORPHA:79276 OMIM:619574 OMIM:619566 ORPHA:496689 OMIM:618138 ORPHA:98912 ORPHA:435660 ORPHA:98853 ORPHA:98855 OMIM:605588 ORPHA:99947 ORPHA:466768 OMIM:616688 OMIM:607677 OMIM:607791 ORPHA:320375 ORPHA:254930 ORPHA:437572 OMIM:616924 ORPHA:99939 ORPHA:101085 ORPHA:637 OMIM:617146 ORPHA:1900 ORPHA:86812 ORPHA:1435 ORPHA:79473 OMIM:620011 OMIM:615284 ORPHA:99956 ORPHA:353 OMIM:601596 OMIM:620068 OMIM:301075 ORPHA:101000 OMIM:607259 ORPHA:99013 OMIM:601954 ORPHA:90117 OMIM:606071 OMIM:613954 ORPHA:435387 OMIM:619216 OMIM:608323 ORPHA:100996
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.