Human Phenotype Ontology 
Grandparent Node:
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Ataxia (HP:0001251)help
Grandparent Node:
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Gait disturbance (HP:0001288)help
Parent Node:
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Gait ataxia (HP:0002066)help
..Starting node
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Progressive gait ataxia (HP:0007240)help
Term ID: 7240
Name: Progressive gait ataxia
Synonym: Gait ataxia, progressive
Definition: A type of gait ataxia displaying progression of clinical severity.
Comments:
Reference: HP:0007240
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbasia (HP:0012651) 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:0007240HP:0007240Progressive gait ataxia0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0007240HP:0007240Progressive gait ataxia0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0007240HP:0007240Progressive gait ataxia0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0007240HP:0007240Progressive gait ataxia0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0007240HP:0007240Progressive gait ataxia0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0007240HP:0007240Progressive gait ataxia0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0007240HP:0007240Progressive gait ataxia0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0007240HP:0007240Progressive gait ataxia0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0007240HP:0007240Progressive gait ataxia0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0007240HP:0007240Progressive gait ataxia0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0007240HP:0007240Progressive gait ataxia0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0007240HP:0007240Progressive gait ataxia0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0007240HP:0007240Progressive gait ataxia0EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 26HP:0040281 - Very frequent4
HP:0007240HP:0007240Progressive gait ataxia0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040281 - Very frequent76
HP:0007240HP:0007240Progressive gait ataxia0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040281 - Very frequent134
HP:0007240HP:0007240Progressive gait ataxia0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040281 - Very frequent139
HP:0007240HP:0007240Progressive gait ataxia0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0007240HP:0007240Progressive gait ataxia0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040282 - Frequent19
HP:0007240HP:0007240Progressive gait ataxia0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040281 - Very frequent225
HP:0007240HP:0007240Progressive gait ataxia0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040282 - Frequent75
HP:0007240HP:0007240Progressive gait ataxia0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0007240HP:0007240Progressive gait ataxia0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0007240HP:0007240Progressive gait ataxia0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0007240HP:0007240Progressive gait ataxia0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0007240HP:0007240Progressive gait ataxia0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0007240HP:0007240Progressive gait ataxia0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type.309
HP:0007240HP:0007240Progressive gait ataxia0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040281 - Very frequent1053
HP:0007240HP:0007240Progressive gait ataxia0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0007240HP:0007240Progressive gait ataxia0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040281 - Very frequent126
HP:0007240HP:0007240Progressive gait ataxia0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040281 - Very frequent427
HP:0007240HP:0007240Progressive gait ataxia0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040281 - Very frequent318
HP:0007240HP:0007240Progressive gait ataxia0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0007240HP:0007240Progressive gait ataxia0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0007240HP:0007240Progressive gait ataxia0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040282 - Frequent126
HP:0007240HP:0007240Progressive gait ataxia0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0007240HP:0007240Progressive gait ataxia0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0007240HP:0007240Progressive gait ataxia0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278


Genes (30) :ALDH18A1 ANO10 ARSA ATP13A2 ATP1A2 ATP6 ATXN3 CACNA1A EEF2 FA2H GABRA1 GABRG2 GJB1 MTPAP PCDH19 PEX10 POLG PRRT2 PSAP SACS SCN1A SCN1B SCN2A SCN9A SETX SNRPN SPTBN2 TPP1 TWNK UBE3A

Diseases (23) :ORPHA:447757 ORPHA:284289 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:513436 ORPHA:569 ORPHA:644 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:101112 ORPHA:329308 ORPHA:33069 ORPHA:1175 ORPHA:254343 ORPHA:247815 OMIM:607459 OMIM:270550 OMIM:606002 OMIM:105830 ORPHA:352403 ORPHA:284324
 

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