Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature of the limbs (HP:0009127)help
Grandparent Node:
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Hypertonia (HP:0001276)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 hypertonia (HP:0002509)help
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Lower limb hypertonia (HP:0006895)help
Term ID: 6895
Name: Lower limb hypertonia
Synonym:
Definition:
Comments:
Reference: HP:0006895
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandUpper limb hypertonia (HP:0200049) 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:0006895HP:0006895Lower limb hypertonia0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 2886
HP:0006895HP:0006895Lower limb hypertonia0ALDH18A1 CL E G H58329722ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040282 - Frequent89
HP:0006895HP:0006895Lower limb hypertonia0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0006895HP:0006895Lower limb hypertonia0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040284 - Very rare71
HP:0006895HP:0006895Lower limb hypertonia0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0006895HP:0006895Lower limb hypertonia0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0006895HP:0006895Lower limb hypertonia0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0006895HP:0006895Lower limb hypertonia0FAR1 CL E G H8418826222ORPHA:447753Autosomal dominant spastic paraplegia type 9AHP:0040282 - Frequent7
HP:0006895HP:0006895Lower limb hypertonia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0006895HP:0006895Lower limb hypertonia0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0006895HP:0006895Lower limb hypertonia0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0006895HP:0006895Lower limb hypertonia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0006895HP:0006895Lower limb hypertonia0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0006895HP:0006895Lower limb hypertonia0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0006895HP:0006895Lower limb hypertonia0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040282 - Frequent19
HP:0006895HP:0006895Lower limb hypertonia0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040283 - Occasional88
HP:0006895HP:0006895Lower limb hypertonia0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0006895HP:0006895Lower limb hypertonia0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0006895HP:0006895Lower limb hypertonia0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0006895HP:0006895Lower limb hypertonia0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0006895HP:0006895Lower limb hypertonia0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0006895HP:0006895Lower limb hypertonia0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0006895HP:0006895Lower limb hypertonia0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0006895HP:0006895Lower limb hypertonia0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0006895HP:0006895Lower limb hypertonia0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional66
HP:0006895HP:0006895Lower limb hypertonia0SLC33A1 CL E G H919795ORPHA:171863Autosomal dominant spastic paraplegia type 42HP:0040281 - Very frequent48
HP:0006895HP:0006895Lower limb hypertonia0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0006895HP:0006895Lower limb hypertonia0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0006895HP:0006895Lower limb hypertonia0SMG9 CL E G H5600625763OMIM:6199952
HP:0006895HP:0006895Lower limb hypertonia0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0006895HP:0006895Lower limb hypertonia0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0006895HP:0006895Lower limb hypertonia0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional3
HP:0006895HP:0006895Lower limb hypertonia0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional84
HP:0006895HP:0006895Lower limb hypertonia0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional57
HP:0006895HP:0006895Lower limb hypertonia0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040283 - Occasional102
HP:0006895HP:0006895Lower limb hypertonia0VPS37A CL E G H13749224928OMIM:614898SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG537


Genes (34) :AFG3L2 ALDH18A1 ASXL1 ATL1 ATRX CLDN11 FA2H FAR1 KAT6A KDM1A KDM5C KIDINS220 LBR MTPAP MTRR PIGA PNPT1 RARS1 RNU7-1 SDHA SDHAF1 SDHB SDHD SEPSECS SLC33A1 SLC35C1 SLC39A14 SMG9 SPG7 TSEN15 TSEN2 TSEN34 TSEN54 VPS37A

Diseases (28) :OMIM:610246 ORPHA:447753 ORPHA:97297 ORPHA:100984 OMIM:309580 OMIM:619328 ORPHA:171629 OMIM:616268 OMIM:616728 ORPHA:477993 OMIM:300534 OMIM:617296 OMIM:169400 ORPHA:254343 ORPHA:2169 OMIM:301072 ORPHA:319514 ORPHA:438114 OMIM:619487 ORPHA:3208 ORPHA:2524 ORPHA:171863 ORPHA:99843 OMIM:617013 OMIM:619995 OMIM:607259 ORPHA:99013 OMIM:614898
 

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