Human Phenotype Ontology 
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Abnormality of the musculature of the lower limbs (HP:0001437)help
Parent Node:
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Limb muscle weakness (HP:0003690)help
Parent Node:
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Proximal muscle weakness (HP:0003701)help
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Proximal muscle weakness in lower limbs (HP:0008994)help
Term ID: 8994
Name: Proximal muscle weakness in lower limbs
Synonym: Muscle weakness, proximal, lower limbs
Definition: A lack of strength of the proximal muscles of the legs.
Comments:
Reference: HP:0008994
Genes and Diseases:
 
       Child Nodes:
........expandQuadriceps muscle weakness (HP:0003731) help

 Sister Nodes: 
..expandGowers sign (HP:0003391) help
..expandLate-onset proximal muscle weakness (HP:0003694) help
..expandProgressive proximal muscle weakness (HP:0009073) help
..expandProximal muscle weakness in upper limbs (HP:0008997) 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:0008994HP:0008994Proximal muscle weakness in lower limbs0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040281 - Very frequent304
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040282 - Frequent11
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant.11
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040282 - Frequent72
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040282 - Frequent600
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040283 - Occasional197
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040282 - Frequent7
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0MLIP CL E G H9052321355OMIM:620138
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040283 - Occasional1269
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z.6
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040281 - Very frequent87
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8HP:0040281 - Very frequent108
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040283 - Occasional7128
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy.10
HP:0008994HP:0008994Proximal muscle weakness in lower limbs0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0008994HP:0003731Quadriceps muscle weakness1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0008994HP:0003731Quadriceps muscle weakness1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040282 - Frequent65
HP:0008994HP:0003731Quadriceps muscle weakness1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040282 - Frequent442
HP:0008994HP:0003731Quadriceps muscle weakness1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040282 - Frequent478
HP:0008994HP:0003731Quadriceps muscle weakness1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040282 - Frequent702
HP:0008994HP:0003731Quadriceps muscle weakness1DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0008994HP:0003731Quadriceps muscle weakness1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0008994HP:0003731Quadriceps muscle weakness1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0008994HP:0003731Quadriceps muscle weakness1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0008994HP:0003731Quadriceps muscle weakness1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0008994HP:0003731Quadriceps muscle weakness1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0008994HP:0003731Quadriceps muscle weakness1PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0008994HP:0003731Quadriceps muscle weakness1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0008994HP:0003731Quadriceps muscle weakness1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0008994HP:0003731Quadriceps muscle weakness1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0008994HP:0003731Quadriceps muscle weakness1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0008994HP:0003731Quadriceps muscle weakness1TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0008994HP:0003731Quadriceps muscle weakness1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0008994HP:0003731Quadriceps muscle weakness1TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040283 - Occasional7128
HP:0008994HP:0003731Quadriceps muscle weakness1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0008994HP:0003731Quadriceps muscle weakness1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63


Genes (62) :ADSS1 ANO5 ANXA11 ATP7B BICD2 BIN1 CHCHD10 COL12A1 COL6A1 COL6A2 COL6A3 CPOX CRPPA DMD DMXL2 DNM2 DYNC1H1 DYSF EMD FHL1 FLNC GDAP1 HEXB HMBS HNRNPA1 HSPG2 JAG2 LAMA2 LIPE LMNA MFN2 MLIP MORC2 MTMR14 MYF6 MYH7 NEFL PHKA1 PIGN POGLUT1 POLG POLG2 POPDC3 REEP1 RRM2B RYR1 SBF2 SECISBP2 SLC25A4 SMN1 SMPX SORD SYNE1 SYNE2 TCAP TMEM43 TRIM32 TTN TWNK VCP VMA21 VWA1

Diseases (57) :ORPHA:482601 ORPHA:206549 OMIM:619733 ORPHA:905 OMIM:615290 ORPHA:169189 ORPHA:457050 ORPHA:276435 OMIM:616209 ORPHA:610 ORPHA:79273 ORPHA:352479 ORPHA:206546 ORPHA:453533 OMIM:158600 ORPHA:268 ORPHA:45448 ORPHA:98863 ORPHA:63273 ORPHA:101097 ORPHA:99948 OMIM:607706 ORPHA:309169 ORPHA:79276 OMIM:615424 OMIM:255800 OMIM:619566 OMIM:618138 ORPHA:435660 ORPHA:98853 ORPHA:98855 ORPHA:98856 ORPHA:99947 OMIM:620138 ORPHA:466768 ORPHA:59135 ORPHA:101085 OMIM:300559 ORPHA:280633 OMIM:617232 ORPHA:254892 OMIM:618848 ORPHA:101011 ORPHA:99956 ORPHA:171706 OMIM:253300 OMIM:301075 OMIM:618912 OMIM:601954 OMIM:254110 ORPHA:1878 OMIM:603689 ORPHA:609 OMIM:613954 ORPHA:435387 OMIM:310440 OMIM:619216
 

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