Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Dystonia (HP:0001332)help
..Starting node
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Limb dystonia (HP:0002451)help
Term ID: 2451
Name: Limb dystonia
Synonym:
Definition: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Comments:
Reference: HP:0002451
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAxial dystonia (HP:0002530) help
..expandFocal dystonia (HP:0004373) help
..expandGeneralized dystonia (HP:0007325) help
..expandOculogyric crisis (HP:0010553) help
..expandParoxysmal dystonia (HP:0002268) help
..expandTorsion dystonia (HP:0001304) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002451HP:0002451Limb dystonia0ANO3 CL E G H63982420485ORPHA132714004610110
HP:0002451HP:0002451Limb dystonia0ANO3 CL E G H63982420485ORPHA130714004610110
HP:0002451HP:0002451Limb dystonia0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0002451HP:0002451Limb dystonia0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0002451HP:0002451Limb dystonia0ATP1A3 CL E G H47871517ORPHA1687801182350
HP:0002451HP:0002451Limb dystonia0ATP1A3 CL E G H47871517ORPHA1625801182350
HP:0002451HP:0002451Limb dystonia0CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM13921389601012
HP:0002451HP:0002451Limb dystonia0CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM13511389601012
HP:0002451HP:0002451Limb dystonia0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0002451HP:0002451Limb dystonia0CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0002451HP:0002451Limb dystonia0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM110102202120130
HP:0002451HP:0002451Limb dystonia0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM18372202120130
HP:0002451HP:0002451Limb dystonia0COL6A3 CL E G H1293464440ORPHA119712213120250
HP:0002451HP:0002451Limb dystonia0COL6A3 CL E G H1293464440ORPHA122332213120250
HP:0002451HP:0002451Limb dystonia0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0002451HP:0002451Limb dystonia0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0002451HP:0002451Limb dystonia0GCH1 CL E G H264398808ORPHA13154193600225
HP:0002451HP:0002451Limb dystonia0GCH1 CL E G H264398808ORPHA12574193600225
HP:0002451HP:0002451Limb dystonia0GNAL CL E G H2774329466ORPHA12284388139312
HP:0002451HP:0002451Limb dystonia0GNAL CL E G H2774329466ORPHA12394388139312
HP:0002451HP:0002451Limb dystonia0GNAL CL E G H2774615073Dystonia 25615073C3554447OMIM12394388139312
HP:0002451HP:0002451Limb dystonia0GNAL CL E G H2774615073Dystonia 25615073C3554447OMIM12284388139312
HP:0002451HP:0002451Limb dystonia0HPCA CL E G H320899657ORPHA1275144142622
HP:0002451HP:0002451Limb dystonia0PANK2 CL E G H80025216873ORPHA126315894606157
HP:0002451HP:0002451Limb dystonia0PANK2 CL E G H80025216873ORPHA133115894606157
HP:0002451HP:0002451Limb dystonia0PRKRA CL E G H8575210571ORPHA11519438603424
HP:0002451HP:0002451Limb dystonia0PRKRA CL E G H8575210571ORPHA11419438603424
HP:0002451HP:0002451Limb dystonia0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0002451HP:0002451Limb dystonia0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0002451HP:0002451Limb dystonia0SLC18A2 CL E G H6571352649ORPHA110310935193001
HP:0002451HP:0002451Limb dystonia0SLC18A2 CL E G H6571352649ORPHA18010935193001
HP:0002451HP:0002451Limb dystonia0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM143911049126455
HP:0002451HP:0002451Limb dystonia0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM138311049126455
HP:0002451HP:0002451Limb dystonia0TH CL E G H7054101150ORPHA155011782191290
HP:0002451HP:0002451Limb dystonia0TH CL E G H7054101150ORPHA165511782191290
HP:0002451HP:0002451Limb dystonia0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM165511782191290
HP:0002451HP:0002451Limb dystonia0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM155011782191290
HP:0002451HP:0002451Limb dystonia0THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM117120856609520
HP:0002451HP:0002451Limb dystonia0THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM116520856609520
HP:0002451HP:0002451Limb dystonia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM118120774602662
HP:0002451HP:0002451Limb dystonia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM116820774602662
HP:0002451HP:0031959Leg dystonia1ANO3 CL E G H63982420485ORPHA130714004610110
HP:0002451HP:0031960Arm dystonia1ANO3 CL E G H63982420485ORPHA132714004610110
HP:0002451HP:0031960Arm dystonia1ANO3 CL E G H63982420485ORPHA130714004610110
HP:0002451HP:0031959Leg dystonia1ANO3 CL E G H63982420485ORPHA132714004610110
HP:0002451HP:0031959Leg dystonia1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0002451HP:0031959Leg dystonia1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0002451HP:0031960Arm dystonia1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM162418060300382
HP:0002451HP:0031960Arm dystonia1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM156518060300382
HP:0002451HP:0031959Leg dystonia1ATP1A3 CL E G H47871517ORPHA1687801182350
HP:0002451HP:0031959Leg dystonia1ATP1A3 CL E G H47871517ORPHA1625801182350
HP:0002451HP:0031960Arm dystonia1ATP1A3 CL E G H47871517ORPHA1687801182350
HP:0002451HP:0031960Arm dystonia1ATP1A3 CL E G H47871517ORPHA1625801182350
HP:0002451HP:0031960Arm dystonia1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM13921389601012
HP:0002451HP:0031960Arm dystonia1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM13511389601012
HP:0002451HP:0031959Leg dystonia1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM13921389601012
HP:0002451HP:0031959Leg dystonia1CACNA1B CL E G H774614860Dystonia 23614860C3538999OMIM13511389601012
HP:0002451HP:0031959Leg dystonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0002451HP:0031959Leg dystonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0002451HP:0031960Arm dystonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA19426877616174
HP:0002451HP:0031960Arm dystonia1CKAP2L CL E G H1504683255Limb scalp and skull defectsORPHA17826877616174
HP:0002451HP:0031960Arm dystonia1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM110102202120130
HP:0002451HP:0031960Arm dystonia1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM18372202120130
HP:0002451HP:0031959Leg dystonia1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM110102202120130
HP:0002451HP:0031959Leg dystonia1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM18372202120130
HP:0002451HP:0031960Arm dystonia1COL6A3 CL E G H1293464440ORPHA119712213120250
HP:0002451HP:0031959Leg dystonia1COL6A3 CL E G H1293464440ORPHA122332213120250
HP:0002451HP:0031959Leg dystonia1COL6A3 CL E G H1293464440ORPHA119712213120250
HP:0002451HP:0031960Arm dystonia1COL6A3 CL E G H1293464440ORPHA122332213120250
HP:0002451HP:0031959Leg dystonia1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0002451HP:0031959Leg dystonia1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0002451HP:0031960Arm dystonia1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0002451HP:0031960Arm dystonia1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0002451HP:0031959Leg dystonia1GCH1 CL E G H264398808ORPHA13154193600225
HP:0002451HP:0031959Leg dystonia1GCH1 CL E G H264398808ORPHA12574193600225
HP:0002451HP:0031960Arm dystonia1GCH1 CL E G H264398808ORPHA13154193600225
HP:0002451HP:0031960Arm dystonia1GCH1 CL E G H264398808ORPHA12574193600225
HP:0002451HP:0031960Arm dystonia1GNAL CL E G H2774329466ORPHA12284388139312
HP:0002451HP:0031959Leg dystonia1GNAL CL E G H2774329466ORPHA12394388139312
HP:0002451HP:0031959Leg dystonia1GNAL CL E G H2774329466ORPHA12284388139312
HP:0002451HP:0031960Arm dystonia1GNAL CL E G H2774329466ORPHA12394388139312
HP:0002451HP:0031959Leg dystonia1GNAL CL E G H2774615073Dystonia 25615073C3554447OMIM12394388139312
HP:0002451HP:0031959Leg dystonia1GNAL CL E G H2774615073Dystonia 25615073C3554447OMIM12284388139312
HP:0002451HP:0031960Arm dystonia1GNAL CL E G H2774615073Dystonia 25615073C3554447OMIM12394388139312
HP:0002451HP:0031960Arm dystonia1GNAL CL E G H2774615073Dystonia 25615073C3554447OMIM12284388139312
HP:0002451HP:0031959Leg dystonia1HPCA CL E G H320899657ORPHA1275144142622
HP:0002451HP:0031960Arm dystonia1HPCA CL E G H320899657ORPHA1275144142622
HP:0002451HP:0031960Arm dystonia1PANK2 CL E G H80025216873ORPHA126315894606157
HP:0002451HP:0031959Leg dystonia1PANK2 CL E G H80025216873ORPHA133115894606157
HP:0002451HP:0031959Leg dystonia1PANK2 CL E G H80025216873ORPHA126315894606157
HP:0002451HP:0031960Arm dystonia1PANK2 CL E G H80025216873ORPHA133115894606157
HP:0002451HP:0031959Leg dystonia1PRKRA CL E G H8575210571ORPHA11419438603424
HP:0002451HP:0031960Arm dystonia1PRKRA CL E G H8575210571ORPHA11519438603424
HP:0002451HP:0031960Arm dystonia1PRKRA CL E G H8575210571ORPHA11419438603424
HP:0002451HP:0031959Leg dystonia1PRKRA CL E G H8575210571ORPHA11519438603424
HP:0002451HP:0031960Arm dystonia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0002451HP:0031960Arm dystonia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0002451HP:0031959Leg dystonia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0002451HP:0031959Leg dystonia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0002451HP:0031959Leg dystonia1SLC18A2 CL E G H6571352649ORPHA18010935193001
HP:0002451HP:0031960Arm dystonia1SLC18A2 CL E G H6571352649ORPHA110310935193001
HP:0002451HP:0031960Arm dystonia1SLC18A2 CL E G H6571352649ORPHA18010935193001
HP:0002451HP:0031959Leg dystonia1SLC18A2 CL E G H6571352649ORPHA110310935193001
HP:0002451HP:0031959Leg dystonia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM143911049126455
HP:0002451HP:0031959Leg dystonia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM138311049126455
HP:0002451HP:0031960Arm dystonia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM143911049126455
HP:0002451HP:0031960Arm dystonia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM138311049126455
HP:0002451HP:0031960Arm dystonia1TH CL E G H7054101150ORPHA155011782191290
HP:0002451HP:0031959Leg dystonia1TH CL E G H7054101150ORPHA165511782191290
HP:0002451HP:0031959Leg dystonia1TH CL E G H7054101150ORPHA155011782191290
HP:0002451HP:0031960Arm dystonia1TH CL E G H7054101150ORPHA165511782191290
HP:0002451HP:0031960Arm dystonia1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM165511782191290
HP:0002451HP:0031960Arm dystonia1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM155011782191290
HP:0002451HP:0031959Leg dystonia1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM165511782191290
HP:0002451HP:0031959Leg dystonia1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM155011782191290
HP:0002451HP:0031959Leg dystonia1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM117120856609520
HP:0002451HP:0031959Leg dystonia1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM116520856609520
HP:0002451HP:0031960Arm dystonia1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM117120856609520
HP:0002451HP:0031960Arm dystonia1THAP1 CL E G H55145602629Dystonia 6, torsion602629C1414216OMIM116520856609520
HP:0002451HP:0031959Leg dystonia1TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM118120774602662
HP:0002451HP:0031959Leg dystonia1TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM116820774602662
HP:0002451HP:0031960Arm dystonia1TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM118120774602662
HP:0002451HP:0031960Arm dystonia1TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM116820774602662
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002451HP:0002451Limb dystonia0AFG3L2 CL E G H10939101109ORPHA0357315604581
HP:0002451HP:0002451Limb dystonia0AFG3L2 CL E G H10939101109ORPHA0349315604581
HP:0002451HP:0002451Limb dystonia0BSCL2 CL E G H26580363400ORPHA033015832606158
HP:0002451HP:0002451Limb dystonia0BSCL2 CL E G H26580363400ORPHA037315832606158
HP:0002451HP:0002451Limb dystonia0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM04886893157140
HP:0002451HP:0002451Limb dystonia0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM04656893157140
HP:0002451HP:0002451Limb dystonia0TAF1 CL E G H687253351ORPHA032111535313650
HP:0002451HP:0002451Limb dystonia0TAF1 CL E G H687253351ORPHA030211535313650
HP:0002451HP:0002451Limb dystonia0THAP1 CL E G H5514598806ORPHA017120856609520
HP:0002451HP:0002451Limb dystonia0THAP1 CL E G H5514598806ORPHA016520856609520
HP:0002451HP:0002451Limb dystonia0VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM040223594608879
HP:0002451HP:0002451Limb dystonia0VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM028123594608879
HP:0002451HP:0002451Limb dystonia0VPS37A CL E G H137492319199ORPHA018824928609927
HP:0002451HP:0002451Limb dystonia0VPS37A CL E G H137492319199ORPHA017324928609927
HP:0002451HP:0031959Leg dystonia1AFG3L2 CL E G H10939101109ORPHA0349315604581
HP:0002451HP:0031960Arm dystonia1AFG3L2 CL E G H10939101109ORPHA0357315604581
HP:0002451HP:0031960Arm dystonia1AFG3L2 CL E G H10939101109ORPHA0349315604581
HP:0002451HP:0031959Leg dystonia1AFG3L2 CL E G H10939101109ORPHA0357315604581
HP:0002451HP:0031960Arm dystonia1BSCL2 CL E G H26580363400ORPHA033015832606158
HP:0002451HP:0031959Leg dystonia1BSCL2 CL E G H26580363400ORPHA037315832606158
HP:0002451HP:0031959Leg dystonia1BSCL2 CL E G H26580363400ORPHA033015832606158
HP:0002451HP:0031960Arm dystonia1BSCL2 CL E G H26580363400ORPHA037315832606158
HP:0002451HP:0031960Arm dystonia1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM04886893157140
HP:0002451HP:0031960Arm dystonia1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM04656893157140
HP:0002451HP:0031959Leg dystonia1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM04886893157140
HP:0002451HP:0031959Leg dystonia1MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM04656893157140
HP:0002451HP:0031960Arm dystonia1TAF1 CL E G H687253351ORPHA032111535313650
HP:0002451HP:0031960Arm dystonia1TAF1 CL E G H687253351ORPHA030211535313650
HP:0002451HP:0031959Leg dystonia1TAF1 CL E G H687253351ORPHA032111535313650
HP:0002451HP:0031959Leg dystonia1TAF1 CL E G H687253351ORPHA030211535313650
HP:0002451HP:0031960Arm dystonia1THAP1 CL E G H5514598806ORPHA017120856609520
HP:0002451HP:0031960Arm dystonia1THAP1 CL E G H5514598806ORPHA016520856609520
HP:0002451HP:0031959Leg dystonia1THAP1 CL E G H5514598806ORPHA017120856609520
HP:0002451HP:0031959Leg dystonia1THAP1 CL E G H5514598806ORPHA016520856609520
HP:0002451HP:0031960Arm dystonia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM040223594608879
HP:0002451HP:0031960Arm dystonia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM028123594608879
HP:0002451HP:0031959Leg dystonia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM040223594608879
HP:0002451HP:0031959Leg dystonia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM028123594608879
HP:0002451HP:0031959Leg dystonia1VPS37A CL E G H137492319199ORPHA017324928609927
HP:0002451HP:0031960Arm dystonia1VPS37A CL E G H137492319199ORPHA018824928609927
HP:0002451HP:0031960Arm dystonia1VPS37A CL E G H137492319199ORPHA017324928609927
HP:0002451HP:0031959Leg dystonia1VPS37A CL E G H137492319199ORPHA018824928609927


Genes (24) :AFG3L2 ANO3 ARX ATP1A3 BSCL2 CACNA1B CKAP2L COL4A1 COL6A3 DDC GCH1 GNAL HPCA MAPT PANK2 PRKRA SLC18A2 SLC6A3 TAF1 TH THAP1 TUBB4A VPS13C VPS37A

Diseases (28) :101109 420485 309510 71517 363400 614860 3255 175780 464440 608643 98808 329466 615073 99657 601104 216873 210571 612067 352649 613135 53351 101150 605407 98806 602629 128101 616840 319199
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.