Human Phenotype Ontology 
Grandparent Node:
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Paraplegia/paraparesis (HP:0010551)help
Parent Node:
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Lower limb spasticity (HP:0002061)help
Parent Node:
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Paraparesis (HP:0002385)help
..Starting node
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Spastic paraparesis (HP:0002313)help
Term ID: 2313
Name: Spastic paraparesis
Synonym:
Definition:
Comments:
Reference: HP:0002313
Genes and Diseases:
 
       Child Nodes:
........expandProgressive spastic paraparesis (HP:0007199) 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:0002313HP:0002313Spastic paraparesis0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0002313HP:0002313Spastic paraparesis0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0002313HP:0002313Spastic paraparesis0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0002313HP:0002313Spastic paraparesis0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0002313HP:0002313Spastic paraparesis0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0002313HP:0002313Spastic paraparesis0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0002313HP:0002313Spastic paraparesis0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0002313HP:0002313Spastic paraparesis0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040283 - Occasional36
HP:0002313HP:0002313Spastic paraparesis0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2HP:0040283 - Occasional101
HP:0002313HP:0002313Spastic paraparesis0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0002313HP:0002313Spastic paraparesis0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040281 - Very frequent114
HP:0002313HP:0002313Spastic paraparesis0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0002313HP:0002313Spastic paraparesis0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0002313HP:0002313Spastic paraparesis0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0002313HP:0002313Spastic paraparesis0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegenerationHP:0040281 - Very frequent16
HP:0002313HP:0002313Spastic paraparesis0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0002313HP:0002313Spastic paraparesis0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0002313HP:0002313Spastic paraparesis0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040284 - Very rare114
HP:0002313HP:0002313Spastic paraparesis0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0002313HP:0002313Spastic paraparesis0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0002313HP:0002313Spastic paraparesis0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0002313HP:0002313Spastic paraparesis0GALC CL E G H25814115ORPHA:206448Adult Krabbe disease160
HP:0002313HP:0002313Spastic paraparesis0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0002313HP:0002313Spastic paraparesis0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0002313HP:0002313Spastic paraparesis0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0002313HP:0002313Spastic paraparesis0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0002313HP:0002313Spastic paraparesis0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002313HP:0002313Spastic paraparesis0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002313HP:0002313Spastic paraparesis0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040283 - Occasional115
HP:0002313HP:0002313Spastic paraparesis0IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040283 - Occasional115
HP:0002313HP:0002313Spastic paraparesis0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0002313HP:0002313Spastic paraparesis0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0002313HP:0002313Spastic paraparesis0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0002313HP:0002313Spastic paraparesis0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0002313HP:0002313Spastic paraparesis0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3HP:0040282 - Frequent
HP:0002313HP:0002313Spastic paraparesis0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040282 - Frequent183
HP:0002313HP:0002313Spastic paraparesis0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040281 - Very frequent19
HP:0002313HP:0002313Spastic paraparesis0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive.19
HP:0002313HP:0002313Spastic paraparesis0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0002313HP:0002313Spastic paraparesis0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0002313HP:0002313Spastic paraparesis0OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3HP:0040282 - Frequent163
HP:0002313HP:0002313Spastic paraparesis0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0002313HP:0002313Spastic paraparesis0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0002313HP:0002313Spastic paraparesis0PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiencyHP:0040283 - Occasional52
HP:0002313HP:0002313Spastic paraparesis0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0002313HP:0002313Spastic paraparesis0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0002313HP:0002313Spastic paraparesis0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0002313HP:0002313Spastic paraparesis0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002313HP:0002313Spastic paraparesis0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0002313HP:0002313Spastic paraparesis0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0002313HP:0002313Spastic paraparesis0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0002313HP:0002313Spastic paraparesis0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0002313HP:0002313Spastic paraparesis0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0002313HP:0002313Spastic paraparesis0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0002313HP:0002313Spastic paraparesis0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0002313HP:0002313Spastic paraparesis0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0002313HP:0002313Spastic paraparesis0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0002313HP:0002313Spastic paraparesis0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0002313HP:0002313Spastic paraparesis0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0002313HP:0002313Spastic paraparesis0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040283 - Occasional42
HP:0002313HP:0002313Spastic paraparesis0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0002313HP:0002313Spastic paraparesis0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0002313HP:0002313Spastic paraparesis0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0002313HP:0002313Spastic paraparesis0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0002313HP:0002313Spastic paraparesis0SPG21 CL E G H5132420373OMIM:248900Mast syndrome.28
HP:0002313HP:0002313Spastic paraparesis0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosis171
HP:0002313HP:0002313Spastic paraparesis0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome52
HP:0002313HP:0002313Spastic paraparesis0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0002313HP:0002313Spastic paraparesis0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0002313HP:0002313Spastic paraparesis0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0002313HP:0002313Spastic paraparesis0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0002313HP:0002313Spastic paraparesis0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0002313HP:0007199Progressive spastic paraparesis1ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040281 - Very frequent135
HP:0002313HP:0007199Progressive spastic paraparesis1CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040282 - Frequent1
HP:0002313HP:0007199Progressive spastic paraparesis1FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0002313HP:0007199Progressive spastic paraparesis1GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040282 - Frequent160
HP:0002313HP:0007199Progressive spastic paraparesis1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0002313HP:0007199Progressive spastic paraparesis1SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040282 - Frequent171
HP:0002313HP:0007199Progressive spastic paraparesis1TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040283 - Occasional52


Genes (61) :ABCD1 ADAR AFG3L2 AIMP1 ALDH3A2 ARG1 ATP6AP2 BCOR BTD C19ORF12 CCDC88C COASY CPT1C CYP27A1 EDNRB FA2H FAR1 GALC GBA1 GFAP GJA1 GJC2 GOT2 IDUA IFIH1 LSM11 MAG MED13L MICOS13 MTHFR MTPAP MTRFR OPA3 PEX16 PLP1 PNP POLG POLR3GL PPP1R15B PRUNE1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SDHA SDHAF1 SDHB SDHD SELENOI SLC25A15 SLC30A10 SOX10 SPART SPG21 SPG7 TBCE TREX1 TRMT10A TTC19 WDR45

Diseases (59) :ORPHA:139399 ORPHA:51 ORPHA:313772 OMIM:614487 OMIM:260600 OMIM:270200 OMIM:207800 ORPHA:363654 OMIM:300166 ORPHA:79241 ORPHA:320370 ORPHA:289560 OMIM:616053 ORPHA:423275 ORPHA:397725 OMIM:615643 ORPHA:444099 ORPHA:909 OMIM:277580 ORPHA:329308 OMIM:619338 ORPHA:206448 ORPHA:206443 OMIM:231000 ORPHA:363722 ORPHA:2710 OMIM:608804 OMIM:618721 ORPHA:93473 ORPHA:93474 OMIM:616680 ORPHA:369891 ORPHA:67047 ORPHA:395 ORPHA:254343 OMIM:613672 ORPHA:320375 ORPHA:254930 OMIM:614877 ORPHA:280229 ORPHA:760 ORPHA:726 OMIM:619234 ORPHA:391408 ORPHA:544469 ORPHA:3208 ORPHA:506353 OMIM:238970 ORPHA:309854 OMIM:613280 OMIM:609136 ORPHA:101000 OMIM:275900 OMIM:248900 ORPHA:35689 ORPHA:496756 OMIM:615157 ORPHA:329284 OMIM:300894
 

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