Human Phenotype Ontology 
Grandparent Node:
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Lower limb spasticity (HP:0002061)help
Grandparent Node:
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Paraplegia (HP:0010550)help
Parent Node:
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Spastic paraplegia (HP:0001258)help
..Starting node
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Progressive spastic paraplegia (HP:0007020)help
Term ID: 7020
Name: Progressive spastic paraplegia
Synonym:
Definition:
Comments:
Reference: HP:0007020
Genes and Diseases:
 
       Child Nodes:

 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:0007020HP:0007020Progressive spastic paraplegia0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent49
HP:0007020HP:0007020Progressive spastic paraplegia0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent48
HP:0007020HP:0007020Progressive spastic paraplegia0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent41
HP:0007020HP:0007020Progressive spastic paraplegia0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040281 - Very frequent18
HP:0007020HP:0007020Progressive spastic paraplegia0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040281 - Very frequent165
HP:0007020HP:0007020Progressive spastic paraplegia0ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 66HP:0040282 - Frequent1
HP:0007020HP:0007020Progressive spastic paraplegia0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0007020HP:0007020Progressive spastic paraplegia0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040281 - Very frequent
HP:0007020HP:0007020Progressive spastic paraplegia0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040282 - Frequent56
HP:0007020HP:0007020Progressive spastic paraplegia0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0007020HP:0007020Progressive spastic paraplegia0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040281 - Very frequent1
HP:0007020HP:0007020Progressive spastic paraplegia0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0007020HP:0007020Progressive spastic paraplegia0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040281 - Very frequent76
HP:0007020HP:0007020Progressive spastic paraplegia0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040280 - Obligate36
HP:0007020HP:0007020Progressive spastic paraplegia0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0007020HP:0007020Progressive spastic paraplegia0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0007020HP:0007020Progressive spastic paraplegia0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040281 - Very frequent10
HP:0007020HP:0007020Progressive spastic paraplegia0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040281 - Very frequent16
HP:0007020HP:0007020Progressive spastic paraplegia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type.81
HP:0007020HP:0007020Progressive spastic paraplegia0KIDINS220 CL E G H5749829508ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndromeHP:0040282 - Frequent4
HP:0007020HP:0007020Progressive spastic paraplegia0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040281 - Very frequent276
HP:0007020HP:0007020Progressive spastic paraplegia0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0007020HP:0007020Progressive spastic paraplegia0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37HP:0040281 - Very frequent
HP:0007020HP:0007020Progressive spastic paraplegia0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0007020HP:0007020Progressive spastic paraplegia0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0007020HP:0007020Progressive spastic paraplegia0MARS1 CL E G H41416898ORPHA:401835Autosomal recessive spastic paraplegia type 70HP:0040282 - Frequent
HP:0007020HP:0007020Progressive spastic paraplegia0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0007020HP:0007020Progressive spastic paraplegia0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0007020HP:0007020Progressive spastic paraplegia0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0007020HP:0007020Progressive spastic paraplegia0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0007020HP:0007020Progressive spastic paraplegia0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0007020HP:0007020Progressive spastic paraplegia0PLP1 CL E G H53549086ORPHA:280234Null syndromeHP:0040282 - Frequent60
HP:0007020HP:0007020Progressive spastic paraplegia0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0007020HP:0007020Progressive spastic paraplegia0RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69HP:0040282 - Frequent135
HP:0007020HP:0007020Progressive spastic paraplegia0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040281 - Very frequent25
HP:0007020HP:0007020Progressive spastic paraplegia0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0007020HP:0007020Progressive spastic paraplegia0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0007020HP:0007020Progressive spastic paraplegia0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0007020HP:0007020Progressive spastic paraplegia0SLC33A1 CL E G H919795ORPHA:171863Autosomal dominant spastic paraplegia type 42HP:0040281 - Very frequent48
HP:0007020HP:0007020Progressive spastic paraplegia0SURF1 CL E G H683411474ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent73
HP:0007020HP:0007020Progressive spastic paraplegia0TACO1 CL E G H5120424316ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent23
HP:0007020HP:0007020Progressive spastic paraplegia0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040281 - Very frequent
HP:0007020HP:0007020Progressive spastic paraplegia0WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 8HP:0040281 - Very frequent83
HP:0007020HP:0007020Progressive spastic paraplegia0ZFR CL E G H5166317277ORPHA:401840Autosomal recessive spastic paraplegia type 71HP:0040282 - Frequent1


Genes (60) :AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 ARSI ATP13A2 ATP6 CCT5 COX15 CPT1C ECHS1 FA2H FARS2 FLRT1 FOXRED1 HACE1 IBA57 KDM5C KIDINS220 KIF1A KLC2 KPNA3 KY LIPT1 MARS1 MTFMT NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 PDHA1 PET100 PGAP1 PLP1 PNPLA6 RAB3GAP2 RTN2 SDHA SELENOI SLC19A3 SLC33A1 SURF1 TACO1 UBAP1 WASHC5 ZFR

Diseases (28) :ORPHA:280763 ORPHA:306511 ORPHA:401815 ORPHA:513436 ORPHA:320360 ORPHA:139578 ORPHA:255241 ORPHA:444099 ORPHA:329308 ORPHA:466722 ORPHA:320406 ORPHA:464282 ORPHA:468661 OMIM:300534 ORPHA:521390 ORPHA:101010 ORPHA:171612 ORPHA:496689 ORPHA:401835 ORPHA:401820 ORPHA:280234 OMIM:612020 ORPHA:401830 ORPHA:100993 ORPHA:506353 ORPHA:171863 ORPHA:100989 ORPHA:401840
 

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