Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of muscle size (HP:0030236)help
Grandparent Node:
expand
obsolete Abnormality of skeletal muscles (HP:0040290)help
Parent Node:
expand
Skeletal muscle atrophy (HP:0003202)help
..Starting node
..expand
Proximal amyotrophy (HP:0007126)help
Term ID: 7126
Name: Proximal amyotrophy
Synonym: Muscle atrophy, proximal; Proximal muscle atrophy; Proximal muscle wasting; Symmetric proximal muscular atrophy; Symmetrical, proximal limb muscle atrophy; Wasting of muscles near the body
Definition: Amyotrophy (muscular atrophy) affecting the proximal musculature.
Comments:
Reference: HP:0007126
Genes and Diseases:
 
       Child Nodes:
........expandProximal upper limb amyotrophy (HP:0008948) help
........expandProximal lower limb amyotrophy (HP:0008956) help
................... HP:0009050 Quadriceps muscle atrophy

 Sister Nodes: 
..expandDistal amyotrophy (HP:0003693) help
..expandGeneralized amyotrophy (HP:0003700) help
..expandLimb-girdle muscle atrophy (HP:0003797) help
..expandLower limb amyotrophy (HP:0007210) help
..expandNonprogressive muscular atrophy (HP:0008964) help
..expandPectoralis amyotrophy (HP:0012037) help
..expandPeroneal muscle atrophy (HP:0009049) help
..expandScapuloperoneal amyotrophy (HP:0003697) help
..expandSpinal muscular atrophy (HP:0007269) help
..expandSternocleidomastoid amyotrophy (HP:0012036) help
..expandUpper limb amyotrophy (HP:0009129) 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:0007126HP:0007126Proximal amyotrophy0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0007126HP:0007126Proximal amyotrophy0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0007126HP:0007126Proximal amyotrophy0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3304
HP:0007126HP:0007126Proximal amyotrophy0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0007126HP:0007126Proximal amyotrophy0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0007126HP:0007126Proximal amyotrophy0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0007126HP:0007126Proximal amyotrophy0CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4.323
HP:0007126HP:0007126Proximal amyotrophy0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A.323
HP:0007126HP:0007126Proximal amyotrophy0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0007126HP:0007126Proximal amyotrophy0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0007126HP:0007126Proximal amyotrophy0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0007126HP:0007126Proximal amyotrophy0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial.91
HP:0007126HP:0007126Proximal amyotrophy0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant427
HP:0007126HP:0007126Proximal amyotrophy0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0007126HP:0007126Proximal amyotrophy0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0007126HP:0007126Proximal amyotrophy0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0007126HP:0007126Proximal amyotrophy0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0007126HP:0007126Proximal amyotrophy0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0007126HP:0007126Proximal amyotrophy0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0007126HP:0007126Proximal amyotrophy0FUS CL E G H25214010OMIM:608030Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia.105
HP:0007126HP:0007126Proximal amyotrophy0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0007126HP:0007126Proximal amyotrophy0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0007126HP:0007126Proximal amyotrophy0HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G5
HP:0007126HP:0007126Proximal amyotrophy0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability7
HP:0007126HP:0007126Proximal amyotrophy0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0007126HP:0007126Proximal amyotrophy0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0007126HP:0007126Proximal amyotrophy0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0007126HP:0007126Proximal amyotrophy0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0007126HP:0007126Proximal amyotrophy0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0007126HP:0007126Proximal amyotrophy0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0007126HP:0007126Proximal amyotrophy0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0007126HP:0007126Proximal amyotrophy0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0007126HP:0007126Proximal amyotrophy0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0007126HP:0007126Proximal amyotrophy0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0007126HP:0007126Proximal amyotrophy0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0007126HP:0007126Proximal amyotrophy0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0007126HP:0007126Proximal amyotrophy0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0007126HP:0007126Proximal amyotrophy0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0007126HP:0007126Proximal amyotrophy0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0007126HP:0007126Proximal amyotrophy0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040282 - Frequent221
HP:0007126HP:0007126Proximal amyotrophy0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0007126HP:0007126Proximal amyotrophy0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0007126HP:0007126Proximal amyotrophy0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 3187
HP:0007126HP:0007126Proximal amyotrophy0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0007126HP:0007126Proximal amyotrophy0SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E.113
HP:0007126HP:0007126Proximal amyotrophy0SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6223
HP:0007126HP:0007126Proximal amyotrophy0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0007126HP:0007126Proximal amyotrophy0SLC12A6 CL E G H999010914OMIM:620068163
HP:0007126HP:0007126Proximal amyotrophy0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0007126HP:0007126Proximal amyotrophy0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0007126HP:0007126Proximal amyotrophy0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV.22
HP:0007126HP:0007126Proximal amyotrophy0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0007126HP:0007126Proximal amyotrophy0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0007126HP:0007126Proximal amyotrophy0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0007126HP:0007126Proximal amyotrophy0SYNE1 CL E G H2334517089OMIM:612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant.1129
HP:0007126HP:0007126Proximal amyotrophy0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0007126HP:0007126Proximal amyotrophy0SYNE2 CL E G H2322417084OMIM:612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant.508
HP:0007126HP:0007126Proximal amyotrophy0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0007126HP:0007126Proximal amyotrophy0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0007126HP:0007126Proximal amyotrophy0TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type.18
HP:0007126HP:0007126Proximal amyotrophy0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0007126HP:0007126Proximal amyotrophy0TMEM43 CL E G H7918828472OMIM:614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant.171
HP:0007126HP:0007126Proximal amyotrophy0TNNT1 CL E G H713811948ORPHA:98902Amish nemaline myopathyHP:0040282 - Frequent37
HP:0007126HP:0007126Proximal amyotrophy0TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0007126HP:0007126Proximal amyotrophy0TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-likeHP:0040283 - Occasional134
HP:0007126HP:0007126Proximal amyotrophy0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0007126HP:0007126Proximal amyotrophy0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0007126HP:0007126Proximal amyotrophy0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040281 - Very frequent
HP:0007126HP:0007126Proximal amyotrophy0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0007126HP:0007126Proximal amyotrophy0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0007126HP:0007126Proximal amyotrophy0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0007126HP:0007126Proximal amyotrophy0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0007126HP:0007126Proximal amyotrophy0VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included116
HP:0007126HP:0008956Proximal lower limb amyotrophy1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0007126HP:0008956Proximal lower limb amyotrophy1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0007126HP:0008956Proximal lower limb amyotrophy1ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3304
HP:0007126HP:0008948Proximal upper limb amyotrophy1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0007126HP:0008956Proximal lower limb amyotrophy1DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0007126HP:0008956Proximal lower limb amyotrophy1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0007126HP:0008948Proximal upper limb amyotrophy1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0007126HP:0008956Proximal lower limb amyotrophy1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0007126HP:0008948Proximal upper limb amyotrophy1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0007126HP:0008956Proximal lower limb amyotrophy1HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G.5
HP:0007126HP:0008948Proximal upper limb amyotrophy1HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G.5
HP:0007126HP:0008948Proximal upper limb amyotrophy1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0007126HP:0008956Proximal lower limb amyotrophy1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0007126HP:0008948Proximal upper limb amyotrophy1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0007126HP:0008956Proximal lower limb amyotrophy1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0007126HP:0008956Proximal lower limb amyotrophy1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0007126HP:0008948Proximal upper limb amyotrophy1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0007126HP:0008948Proximal upper limb amyotrophy1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0007126HP:0008956Proximal lower limb amyotrophy1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0007126HP:0008956Proximal lower limb amyotrophy1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0007126HP:0008956Proximal lower limb amyotrophy1REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040282 - Frequent87
HP:0007126HP:0008956Proximal lower limb amyotrophy1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0007126HP:0008956Proximal lower limb amyotrophy1SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6HP:0040282 - Frequent223
HP:0007126HP:0008948Proximal upper limb amyotrophy1SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6HP:0040282 - Frequent223
HP:0007126HP:0008956Proximal lower limb amyotrophy1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0007126HP:0008956Proximal lower limb amyotrophy1SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0007126HP:0008956Proximal lower limb amyotrophy1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0007126HP:0008948Proximal upper limb amyotrophy1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0007126HP:0008956Proximal lower limb amyotrophy1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0007126HP:0008956Proximal lower limb amyotrophy1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0007126HP:0008948Proximal upper limb amyotrophy1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0007126HP:0008948Proximal upper limb amyotrophy1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0007126HP:0008956Proximal lower limb amyotrophy1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0007126HP:0008948Proximal upper limb amyotrophy1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0007126HP:0008948Proximal upper limb amyotrophy1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0007126HP:0009050Quadriceps muscle atrophy2ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0007126HP:0009050Quadriceps muscle atrophy2ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0007126HP:0009050Quadriceps muscle atrophy2ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0007126HP:0009050Quadriceps muscle atrophy2RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0007126HP:0009050Quadriceps muscle atrophy2SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0007126HP:0040191Rectus femoris muscle atrophy3RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200


Genes (59) :ADSS1 ANO5 ARMC5 ATRX BRAF CAPN3 CDH23 CRPPA DNM2 DOK7 DYNC1H1 DYSF EMD FHL1 FKRP FKTN FUS GFPT1 GNAS HNRNPDL INPP5K LMNA MGME1 MORC2 MTMR14 MYH7 MYOT NEFL NR3C1 PDE11A PDE8B PEX6 POMT1 POMT2 PRKACA PRKAR1A REEP1 RYR1 SGCB SGCD SLC12A6 SMN1 SMN2 STIM1 SYNE1 SYNE2 SYT2 TCAP TFG TMEM43 TNNT1 TNXB TP53 TRIM32 TRNE TRPV4 USP48 USP8 VAPB

Diseases (54) :ORPHA:482601 ORPHA:206549 OMIM:613319 ORPHA:189427 ORPHA:96253 OMIM:618129 OMIM:253600 ORPHA:370980 OMIM:160150 OMIM:254300 OMIM:158600 ORPHA:45448 ORPHA:98863 OMIM:606612 OMIM:608030 OMIM:610542 OMIM:609115 OMIM:617404 ORPHA:98853 ORPHA:98855 ORPHA:98856 OMIM:615084 ORPHA:466768 ORPHA:437572 OMIM:255160 OMIM:182920 ORPHA:101085 ORPHA:189439 ORPHA:95433 ORPHA:206559 ORPHA:101011 ORPHA:98905 OMIM:604286 ORPHA:219 OMIM:601287 OMIM:620068 OMIM:253300 OMIM:253400 OMIM:271150 OMIM:160565 OMIM:612998 OMIM:612999 OMIM:616040 OMIM:601954 OMIM:604484 OMIM:614302 ORPHA:98902 OMIM:605355 OMIM:606408 OMIM:254110 ORPHA:2596 OMIM:606071 OMIM:608627 OMIM:182980
 

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