Human Phenotype Ontology 
Grandparent Node:
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Skeletal muscle atrophy (HP:0003202)help
Parent Node:
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Abnormality of the musculature of the thigh (HP:0001441)help
Parent Node:
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Proximal amyotrophy (HP:0007126)help
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Proximal lower limb amyotrophy (HP:0008956)help
Term ID: 8956
Name: Proximal lower limb amyotrophy
Synonym: Amyotrophy involving the thigh; Amyotrophy of the thigh musculature; Proximal lower limb muscle atrophy; Thigh muscle atrophy; Wasting of thigh muscle
Definition: Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
Comments:
Reference: HP:0008956
Genes and Diseases:
 
       Child Nodes:
........expandQuadriceps muscle atrophy (HP:0009050) help
................... HP:0040191 Rectus femoris muscle atrophy

 Sister Nodes: 
..expandProximal upper limb amyotrophy (HP:0008948) 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:0008956HP:0008956Proximal lower limb amyotrophy0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0008956HP:0008956Proximal lower limb amyotrophy0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0008956HP:0008956Proximal lower limb amyotrophy0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3304
HP:0008956HP:0008956Proximal lower limb amyotrophy0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0008956HP:0008956Proximal lower limb amyotrophy0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0008956HP:0008956Proximal lower limb amyotrophy0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0008956HP:0008956Proximal lower limb amyotrophy0HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G.5
HP:0008956HP:0008956Proximal lower limb amyotrophy0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0008956HP:0008956Proximal lower limb amyotrophy0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0008956HP:0008956Proximal lower limb amyotrophy0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0008956HP:0008956Proximal lower limb amyotrophy0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0008956HP:0008956Proximal lower limb amyotrophy0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0008956HP:0008956Proximal lower limb amyotrophy0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040282 - Frequent87
HP:0008956HP:0008956Proximal lower limb amyotrophy0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0008956HP:0008956Proximal lower limb amyotrophy0SGCD CL E G H644410807ORPHA:219Delta-sarcoglycan-related limb-girdle muscular dystrophy R6HP:0040282 - Frequent223
HP:0008956HP:0008956Proximal lower limb amyotrophy0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0008956HP:0008956Proximal lower limb amyotrophy0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0008956HP:0008956Proximal lower limb amyotrophy0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0008956HP:0008956Proximal lower limb amyotrophy0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0008956HP:0008956Proximal lower limb amyotrophy0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0008956HP:0008956Proximal lower limb amyotrophy0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0008956HP:0009050Quadriceps muscle atrophy1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0008956HP:0009050Quadriceps muscle atrophy1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0008956HP:0009050Quadriceps muscle atrophy1ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0008956HP:0009050Quadriceps muscle atrophy1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0008956HP:0009050Quadriceps muscle atrophy1SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV22
HP:0008956HP:0040191Rectus femoris muscle atrophy2RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200


Genes (17) :ADSS1 ANO5 DYNC1H1 EMD FHL1 HNRNPDL LMNA MYH7 NEFL REEP1 RYR1 SGCD SMN1 SMN2 SYNE1 SYNE2 TMEM43

Diseases (16) :ORPHA:482601 ORPHA:206549 OMIM:613319 OMIM:158600 ORPHA:98863 OMIM:609115 ORPHA:98853 ORPHA:98855 ORPHA:98856 ORPHA:437572 ORPHA:101085 ORPHA:101011 ORPHA:98905 ORPHA:219 OMIM:253400 OMIM:271150
 

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