Human Phenotype Ontology 
Grandparent Node:
expand
Limb muscle weakness (HP:0003690)help
Parent Node:
expand
Abnormality of the musculature of the upper limbs (HP:0001446)help
Parent Node:
expand
Proximal muscle weakness (HP:0003701)help
Parent Node:
expand
Upper limb muscle weakness (HP:0003484)help
..Starting node
..expand
Proximal muscle weakness in upper limbs (HP:0008997)help
Term ID: 8997
Name: Proximal muscle weakness in upper limbs
Synonym:
Definition: A lack of strength of the proximal muscles of the arms.
Comments:
Reference: HP:0008997
Genes and Diseases:
 
       Child Nodes:
........expandTriceps weakness (HP:0031108) help

 Sister Nodes: 
..expandWrist drop (HP:0031189) 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:0008997HP:0008997Proximal muscle weakness in upper limbs0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040283 - Occasional304
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040283 - Occasional11
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040282 - Frequent72
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040284 - Very rare
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040284 - Very rare286
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040282 - Frequent7
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040284 - Very rare
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040282 - Frequent41
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0SLC12A6 CL E G H999010914OMIM:620068163
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0008997HP:0008997Proximal muscle weakness in upper limbs0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0008997HP:0031108Triceps weakness1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0008997HP:0031108Triceps weakness1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0008997HP:0031108Triceps weakness1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional1
HP:0008997HP:0031108Triceps weakness1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional74
HP:0008997HP:0031108Triceps weakness1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional53
HP:0008997HP:0031108Triceps weakness1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional88
HP:0008997HP:0031108Triceps weakness1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional139
HP:0008997HP:0031108Triceps weakness1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0008997HP:0031108Triceps weakness1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional91
HP:0008997HP:0031108Triceps weakness1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040283 - Occasional600
HP:0008997HP:0031108Triceps weakness1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID.1
HP:0008997HP:0031108Triceps weakness1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0008997HP:0031108Triceps weakness1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional124
HP:0008997HP:0031108Triceps weakness1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0008997HP:0031108Triceps weakness1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional72
HP:0008997HP:0031108Triceps weakness1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0008997HP:0031108Triceps weakness1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0008997HP:0031108Triceps weakness1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional73
HP:0008997HP:0031108Triceps weakness1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional263


Genes (58) :ADSS1 AGRN AK9 ANO5 ANXA11 BIN1 CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COX1 COX3 CPOX CRPPA DNM2 DOK7 DYSF EMD FBXO38 FHL1 GDAP1 GIPC1 GMPPB HMBS JAG1 JAG2 KY LAMA2 LDB3 LIPE LMNA LPIN1 LRP4 MFN2 MORC2 MTMR14 MUSK MYF6 MYH7 NEFL NOTCH2NLC POMT1 PPOX RAPSN RYR1 SBF2 SCN4A SLC12A6 SMPX SYNE1 SYNE2 TCAP TMEM43 TRPV4 VCP VWA1

Diseases (43) :ORPHA:482601 ORPHA:98913 ORPHA:206549 ORPHA:399096 OMIM:619733 ORPHA:169189 ORPHA:457050 ORPHA:276435 ORPHA:99845 ORPHA:79273 ORPHA:352479 OMIM:160150 ORPHA:268 ORPHA:45448 ORPHA:98863 OMIM:615575 ORPHA:101097 OMIM:607706 ORPHA:98897 ORPHA:363623 ORPHA:79276 OMIM:619574 OMIM:619566 ORPHA:496689 OMIM:618138 ORPHA:98912 ORPHA:435660 ORPHA:98853 ORPHA:98855 ORPHA:99947 ORPHA:466768 ORPHA:437572 ORPHA:101085 ORPHA:86812 ORPHA:79473 ORPHA:99956 OMIM:620068 OMIM:301075 OMIM:601954 OMIM:606071 OMIM:613954 ORPHA:435387 OMIM:619216
 

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