Human Phenotype Ontology 
Grandparent Node:
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Distal amyotrophy (HP:0003693)help
Grandparent Node:
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Upper limb amyotrophy (HP:0009129)help
Parent Node:
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Abnormality of the musculature of the hand (HP:0001421)help
Parent Node:
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Distal upper limb amyotrophy (HP:0007149)help
..Starting node
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Hand muscle atrophy (HP:0009130)help
Term ID: 9130
Name: Hand muscle atrophy
Synonym: Amyotrophy involving the musculature of the hand; Amyotrophy of hand muscles; Hand muscle degeneration; Hand muscle wasting; Hand muscle wasting, bilateral
Definition: Muscular atrophy involving the muscles of the hand.
Comments:
Reference: HP:0009130
Genes and Diseases:
 
       Child Nodes:
........expandThenar muscle atrophy (HP:0003393) help
........expandIntrinsic hand muscle atrophy (HP:0008954) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009130HP:0009130Hand muscle atrophy0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal.96
HP:0009130HP:0009130Hand muscle atrophy0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0009130HP:0009130Hand muscle atrophy0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040282 - Frequent105
HP:0009130HP:0009130Hand muscle atrophy0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0009130HP:0009130Hand muscle atrophy0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0009130HP:0009130Hand muscle atrophy0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0009130HP:0009130Hand muscle atrophy0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0009130HP:0009130Hand muscle atrophy0CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0009130HP:0009130Hand muscle atrophy0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0009130HP:0009130Hand muscle atrophy0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0009130HP:0009130Hand muscle atrophy0COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0009130HP:0009130Hand muscle atrophy0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0009130HP:0009130Hand muscle atrophy0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0009130HP:0009130Hand muscle atrophy0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0009130HP:0009130Hand muscle atrophy0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0009130HP:0009130Hand muscle atrophy0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040281 - Very frequent18
HP:0009130HP:0009130Hand muscle atrophy0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D
HP:0009130HP:0009130Hand muscle atrophy0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0009130HP:0009130Hand muscle atrophy0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA
HP:0009130HP:0009130Hand muscle atrophy0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0009130HP:0009130Hand muscle atrophy0GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2KHP:0040282 - Frequent108
HP:0009130HP:0009130Hand muscle atrophy0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0009130HP:0009130Hand muscle atrophy0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0009130HP:0009130Hand muscle atrophy0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0009130HP:0009130Hand muscle atrophy0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0009130HP:0009130Hand muscle atrophy0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0009130HP:0009130Hand muscle atrophy0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0009130HP:0009130Hand muscle atrophy0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0009130HP:0009130Hand muscle atrophy0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0009130HP:0009130Hand muscle atrophy0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0009130HP:0009130Hand muscle atrophy0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0009130HP:0009130Hand muscle atrophy0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0009130HP:0009130Hand muscle atrophy0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0009130HP:0009130Hand muscle atrophy0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0009130HP:0009130Hand muscle atrophy0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0009130HP:0009130Hand muscle atrophy0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0009130HP:0009130Hand muscle atrophy0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0009130HP:0009130Hand muscle atrophy0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0009130HP:0009130Hand muscle atrophy0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0009130HP:0009130Hand muscle atrophy0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0009130HP:0009130Hand muscle atrophy0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0009130HP:0009130Hand muscle atrophy0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness5
HP:0009130HP:0009130Hand muscle atrophy0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0009130HP:0009130Hand muscle atrophy0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0009130HP:0009130Hand muscle atrophy0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0009130HP:0009130Hand muscle atrophy0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0009130HP:0009130Hand muscle atrophy0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0009130HP:0009130Hand muscle atrophy0SLC12A6 CL E G H999010914OMIM:620068163
HP:0009130HP:0009130Hand muscle atrophy0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0009130HP:0009130Hand muscle atrophy0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0009130HP:0009130Hand muscle atrophy0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0009130HP:0009130Hand muscle atrophy0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0009130HP:0009130Hand muscle atrophy0SLC5A6 CL E G H888411041OMIM:619903
HP:0009130HP:0009130Hand muscle atrophy0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0009130HP:0009130Hand muscle atrophy0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander type62
HP:0009130HP:0009130Hand muscle atrophy0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009130HP:0009130Hand muscle atrophy0TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive18
HP:0009130HP:0009130Hand muscle atrophy0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander type5
HP:0009130HP:0009130Hand muscle atrophy0TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0009130HP:0009130Hand muscle atrophy0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0009130HP:0009130Hand muscle atrophy0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0009130HP:0009130Hand muscle atrophy0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0009130HP:0003393Thenar muscle atrophy1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0009130HP:0003393Thenar muscle atrophy1BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0009130HP:0003393Thenar muscle atrophy1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0009130HP:0008954Intrinsic hand muscle atrophy1CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040282 - Frequent148
HP:0009130HP:0008954Intrinsic hand muscle atrophy1CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0009130HP:0008954Intrinsic hand muscle atrophy1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0009130HP:0008954Intrinsic hand muscle atrophy1CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0009130HP:0003393Thenar muscle atrophy1COMP CL E G H13112227OMIM:619161CARPAL TUNNEL SYNDROME 2; CTS289
HP:0009130HP:0008954Intrinsic hand muscle atrophy1DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onsetHP:0040283 - Occasional600
HP:0009130HP:0008954Intrinsic hand muscle atrophy1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040281 - Very frequent197
HP:0009130HP:0003393Thenar muscle atrophy1GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0009130HP:0003393Thenar muscle atrophy1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0009130HP:0003393Thenar muscle atrophy1GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0009130HP:0003393Thenar muscle atrophy1GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0009130HP:0008954Intrinsic hand muscle atrophy1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0009130HP:0008954Intrinsic hand muscle atrophy1HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040283 - Occasional
HP:0009130HP:0008954Intrinsic hand muscle atrophy1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0009130HP:0008954Intrinsic hand muscle atrophy1HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0009130HP:0003393Thenar muscle atrophy1IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome115
HP:0009130HP:0008954Intrinsic hand muscle atrophy1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0009130HP:0008954Intrinsic hand muscle atrophy1KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0009130HP:0008954Intrinsic hand muscle atrophy1KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040282 - Frequent3
HP:0009130HP:0008954Intrinsic hand muscle atrophy1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040282 - Frequent286
HP:0009130HP:0008954Intrinsic hand muscle atrophy1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0009130HP:0008954Intrinsic hand muscle atrophy1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional134
HP:0009130HP:0003393Thenar muscle atrophy1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0009130HP:0008954Intrinsic hand muscle atrophy1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0009130HP:0003393Thenar muscle atrophy1PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040282 - Frequent4
HP:0009130HP:0003393Thenar muscle atrophy1PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0009130HP:0008954Intrinsic hand muscle atrophy1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional79
HP:0009130HP:0008954Intrinsic hand muscle atrophy1PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0009130HP:0003393Thenar muscle atrophy1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0009130HP:0008954Intrinsic hand muscle atrophy1RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0009130HP:0008954Intrinsic hand muscle atrophy1SLC12A6 CL E G H999010914OMIM:620068163
HP:0009130HP:0003393Thenar muscle atrophy1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0009130HP:0003393Thenar muscle atrophy1SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent24
HP:0009130HP:0003393Thenar muscle atrophy1SLC5A6 CL E G H888411041OMIM:619903
HP:0009130HP:0003393Thenar muscle atrophy1SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0009130HP:0008954Intrinsic hand muscle atrophy1SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent62
HP:0009130HP:0008954Intrinsic hand muscle atrophy1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0009130HP:0008954Intrinsic hand muscle atrophy1TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent5
HP:0009130HP:0008954Intrinsic hand muscle atrophy1TIMM8A CL E G H167811817OMIM:304700Mohr-Tranebjaerg syndrome15
HP:0009130HP:0008954Intrinsic hand muscle atrophy1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63


Genes (50) :ACTA1 ALS2 BSCL2 CAV3 CHCHD10 CHRNA1 COMP DCTN1 DYSF FLNC FUZ FXN GARS1 GBF1 GDAP1 HARS1 HINT1 HSPB3 IDUA JAG1 KANSL1 KIF1A KLHL9 LDB3 LMNA MARS1 MORC2 MPZ NEB NEFL NGLY1 PDK3 PLOD3 PMP22 PRX REEP1 RYR1 SLC12A6 SLC25A21 SLC39A13 SLC52A3 SLC5A6 SPG11 SQSTM1 SVBP TFG TIA1 TIMM8A TRPV4 VCP

Diseases (58) :OMIM:616852 OMIM:205100 ORPHA:100998 ORPHA:139536 OMIM:619112 OMIM:270685 ORPHA:488650 OMIM:614321 ORPHA:276435 OMIM:601462 OMIM:619161 OMIM:607641 ORPHA:178400 ORPHA:63273 ORPHA:1136 ORPHA:95 OMIM:601472 OMIM:600794 OMIM:606483 ORPHA:99944 ORPHA:101097 ORPHA:488333 ORPHA:324442 OMIM:613376 OMIM:607015 OMIM:619574 ORPHA:363958 ORPHA:363965 OMIM:614213 ORPHA:399081 ORPHA:98912 ORPHA:98856 OMIM:616280 OMIM:616688 ORPHA:3115 OMIM:256030 ORPHA:101085 OMIM:607684 OMIM:615273 ORPHA:352675 OMIM:612394 ORPHA:90658 OMIM:614895 ORPHA:178145 OMIM:620068 OMIM:618811 OMIM:612350 ORPHA:157965 OMIM:211530 OMIM:619903 OMIM:604360 ORPHA:603 OMIM:618569 OMIM:615658 OMIM:304700 OMIM:606071 ORPHA:329478 ORPHA:435387
 

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