Human Phenotype Ontology 
Grandparent Node:
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Weakness due to upper motor neuron dysfunction (HP:0010549)help
Parent Node:
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Paraplegia/paraparesis (HP:0010551)help
..Starting node
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Paraparesis (HP:0002385)help
Term ID: 2385
Name: Paraparesis
Synonym: Partial paralysis of legs
Definition: Weakness or partial paralysis in the lower limbs.
Comments:
Reference: HP:0002385
Genes and Diseases:
 
       Child Nodes:
........expandSpastic paraparesis (HP:0002313) help
................... HP:0007199 Progressive spastic paraparesis

 Sister Nodes: 
..expandParaplegia (HP:0010550) 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:0002385HP:0002385Paraparesis0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0002385HP:0002385Paraparesis0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0002385HP:0002385Paraparesis0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0002385HP:0002385Paraparesis0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional88
HP:0002385HP:0002385Paraparesis0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome86
HP:0002385HP:0002385Paraparesis0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive86
HP:0002385HP:0002385Paraparesis0AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 34
HP:0002385HP:0002385Paraparesis0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0002385HP:0002385Paraparesis0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0002385HP:0002385Paraparesis0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040284 - Very rare78
HP:0002385HP:0002385Paraparesis0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0002385HP:0002385Paraparesis0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0002385HP:0002385Paraparesis0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0002385HP:0002385Paraparesis0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0002385HP:0002385Paraparesis0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43114
HP:0002385HP:0002385Paraparesis0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0002385HP:0002385Paraparesis0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0002385HP:0002385Paraparesis0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0002385HP:0002385Paraparesis0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0002385HP:0002385Paraparesis0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0002385HP:0002385Paraparesis0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0002385HP:0002385Paraparesis0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0002385HP:0002385Paraparesis0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegeneration16
HP:0002385HP:0002385Paraparesis0COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 616
HP:0002385HP:0002385Paraparesis0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0002385HP:0002385Paraparesis0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0002385HP:0002385Paraparesis0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome55
HP:0002385HP:0002385Paraparesis0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0002385HP:0002385Paraparesis0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0002385HP:0002385Paraparesis0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0002385HP:0002385Paraparesis0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0002385HP:0002385Paraparesis0GALC CL E G H25814115ORPHA:206448Adult Krabbe disease160
HP:0002385HP:0002385Paraparesis0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0002385HP:0002385Paraparesis0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0002385HP:0002385Paraparesis0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III
HP:0002385HP:0002385Paraparesis0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0002385HP:0002385Paraparesis0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0002385HP:0002385Paraparesis0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0002385HP:0002385Paraparesis0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1.107
HP:0002385HP:0002385Paraparesis0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0002385HP:0002385Paraparesis0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002385HP:0002385Paraparesis0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0002385HP:0002385Paraparesis0IDUA CL E G H34255391ORPHA:93474Scheie syndrome115
HP:0002385HP:0002385Paraparesis0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0002385HP:0002385Paraparesis0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0002385HP:0002385Paraparesis0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0002385HP:0002385Paraparesis0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0002385HP:0002385Paraparesis0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3
HP:0002385HP:0002385Paraparesis0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiency183
HP:0002385HP:0002385Paraparesis0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome19
HP:0002385HP:0002385Paraparesis0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive19
HP:0002385HP:0002385Paraparesis0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0002385HP:0002385Paraparesis0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0002385HP:0002385Paraparesis0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0002385HP:0002385Paraparesis0OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3163
HP:0002385HP:0002385Paraparesis0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0002385HP:0002385Paraparesis0PI4KA CL E G H52978983ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional11
HP:0002385HP:0002385Paraparesis0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriers60
HP:0002385HP:0002385Paraparesis0PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiency52
HP:0002385HP:0002385Paraparesis0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0002385HP:0002385Paraparesis0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0002385HP:0002385Paraparesis0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0002385HP:0002385Paraparesis0PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5HP:0040283 - Occasional49
HP:0002385HP:0002385Paraparesis0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002385HP:0002385Paraparesis0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0002385HP:0002385Paraparesis0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0002385HP:0002385Paraparesis0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0002385HP:0002385Paraparesis0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0002385HP:0002385Paraparesis0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0002385HP:0002385Paraparesis0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0002385HP:0002385Paraparesis0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0002385HP:0002385Paraparesis0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0002385HP:0002385Paraparesis0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0002385HP:0002385Paraparesis0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0002385HP:0002385Paraparesis0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2).110
HP:0002385HP:0002385Paraparesis0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0002385HP:0002385Paraparesis0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0002385HP:0002385Paraparesis0SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0002385HP:0002385Paraparesis0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0002385HP:0002385Paraparesis0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040283 - Occasional49
HP:0002385HP:0002385Paraparesis0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 2066
HP:0002385HP:0002385Paraparesis0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0002385HP:0002385Paraparesis0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040281 - Very frequent287
HP:0002385HP:0002385Paraparesis0SPG21 CL E G H5132420373OMIM:248900Mast syndrome28
HP:0002385HP:0002385Paraparesis0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosis171
HP:0002385HP:0002385Paraparesis0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0002385HP:0002385Paraparesis0SRPX2 CL E G H2728630668ORPHA:98889Bilateral perisylvian polymicrogyriaHP:0040283 - Occasional50
HP:0002385HP:0002385Paraparesis0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0002385HP:0002385Paraparesis0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome52
HP:0002385HP:0002385Paraparesis0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent20
HP:0002385HP:0002385Paraparesis0TNFRSF11A CL E G H879211908OMIM:602080Paget disease of bone 2, early-onset.72
HP:0002385HP:0002385Paraparesis0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0002385HP:0002385Paraparesis0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0002385HP:0002385Paraparesis0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 288
HP:0002385HP:0002385Paraparesis0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent63
HP:0002385HP:0002385Paraparesis0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegeneration51
HP:0002385HP:0002385Paraparesis0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 551
HP:0002385HP:0002313Spastic paraparesis1ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0002385HP:0002313Spastic paraparesis1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0002385HP:0002313Spastic paraparesis1AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0002385HP:0002313Spastic paraparesis1AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0002385HP:0002313Spastic paraparesis1AIMP1 CL E G H925510648OMIM:260600Leukodystrophy, hypomyelinating, 3.4
HP:0002385HP:0002313Spastic paraparesis1ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0002385HP:0002313Spastic paraparesis1ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0002385HP:0002313Spastic paraparesis1ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040283 - Occasional36
HP:0002385HP:0002313Spastic paraparesis1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2HP:0040283 - Occasional101
HP:0002385HP:0002313Spastic paraparesis1BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0002385HP:0002313Spastic paraparesis1C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040281 - Very frequent114
HP:0002385HP:0002313Spastic paraparesis1C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0002385HP:0002313Spastic paraparesis1CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0002385HP:0002313Spastic paraparesis1CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0002385HP:0002313Spastic paraparesis1COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegenerationHP:0040281 - Very frequent16
HP:0002385HP:0002313Spastic paraparesis1COASY CL E G H8034729932OMIM:615643Neurodegeneration with brain iron accumulation 6.16
HP:0002385HP:0002313Spastic paraparesis1CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0002385HP:0002313Spastic paraparesis1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040284 - Very rare114
HP:0002385HP:0002313Spastic paraparesis1EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0002385HP:0002313Spastic paraparesis1FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0002385HP:0002313Spastic paraparesis1FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0002385HP:0002313Spastic paraparesis1GALC CL E G H25814115ORPHA:206448Adult Krabbe disease160
HP:0002385HP:0002313Spastic paraparesis1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0002385HP:0002313Spastic paraparesis1GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0002385HP:0002313Spastic paraparesis1GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0002385HP:0002313Spastic paraparesis1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0002385HP:0002313Spastic paraparesis1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002385HP:0002313Spastic paraparesis1GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002385HP:0002313Spastic paraparesis1IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040283 - Occasional115
HP:0002385HP:0002313Spastic paraparesis1IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040283 - Occasional115
HP:0002385HP:0002313Spastic paraparesis1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0002385HP:0002313Spastic paraparesis1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0002385HP:0002313Spastic paraparesis1MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0002385HP:0002313Spastic paraparesis1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0002385HP:0002313Spastic paraparesis1MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3HP:0040282 - Frequent
HP:0002385HP:0002313Spastic paraparesis1MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040282 - Frequent183
HP:0002385HP:0002313Spastic paraparesis1MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040281 - Very frequent19
HP:0002385HP:0002313Spastic paraparesis1MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive.19
HP:0002385HP:0002313Spastic paraparesis1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0002385HP:0002313Spastic paraparesis1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0002385HP:0002313Spastic paraparesis1OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3HP:0040282 - Frequent163
HP:0002385HP:0002313Spastic paraparesis1PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0002385HP:0002313Spastic paraparesis1PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0002385HP:0002313Spastic paraparesis1PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiencyHP:0040283 - Occasional52
HP:0002385HP:0002313Spastic paraparesis1POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0002385HP:0002313Spastic paraparesis1POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0002385HP:0002313Spastic paraparesis1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0002385HP:0002313Spastic paraparesis1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002385HP:0002313Spastic paraparesis1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0002385HP:0002313Spastic paraparesis1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0002385HP:0002313Spastic paraparesis1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0002385HP:0002313Spastic paraparesis1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0002385HP:0002313Spastic paraparesis1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0002385HP:0002313Spastic paraparesis1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0002385HP:0002313Spastic paraparesis1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0002385HP:0002313Spastic paraparesis1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0002385HP:0002313Spastic paraparesis1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0002385HP:0002313Spastic paraparesis1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0002385HP:0002313Spastic paraparesis1SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0002385HP:0002313Spastic paraparesis1SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040283 - Occasional42
HP:0002385HP:0002313Spastic paraparesis1SLC30A10 CL E G H5553225355OMIM:613280Hypermanganesemia with dystonia 142
HP:0002385HP:0002313Spastic paraparesis1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0002385HP:0002313Spastic paraparesis1SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0002385HP:0002313Spastic paraparesis1SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0002385HP:0002313Spastic paraparesis1SPG21 CL E G H5132420373OMIM:248900Mast syndrome.28
HP:0002385HP:0002313Spastic paraparesis1SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosis171
HP:0002385HP:0002313Spastic paraparesis1TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome52
HP:0002385HP:0002313Spastic paraparesis1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0002385HP:0002313Spastic paraparesis1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0002385HP:0002313Spastic paraparesis1TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0002385HP:0002313Spastic paraparesis1WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0002385HP:0002313Spastic paraparesis1WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0002385HP:0007199Progressive spastic paraparesis2ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040281 - Very frequent135
HP:0002385HP:0007199Progressive spastic paraparesis2CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040282 - Frequent1
HP:0002385HP:0007199Progressive spastic paraparesis2FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0002385HP:0007199Progressive spastic paraparesis2GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040282 - Frequent160
HP:0002385HP:0007199Progressive spastic paraparesis2SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0002385HP:0007199Progressive spastic paraparesis2SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040282 - Frequent171
HP:0002385HP:0007199Progressive spastic paraparesis2TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040283 - Occasional52


Genes (83) :ABCD1 ADAR ADGRG1 AFG3L2 AIMP1 ALDH3A2 ARG1 ASAH1 ATP13A2 ATP6AP2 BCOR BTD C19ORF12 C9ORF72 CCDC88C CHCHD10 CLTC COASY CPT1C CYP27A1 EDNRB FA2H FAR1 FUS FUZ GALC GAMT GBA1 GFAP GJA1 GJB1 GJC2 GOT2 IDUA IFIH1 LSM11 MAG MED13L MICOS13 MTHFR MTPAP MTRFR NF1 OPA3 PEX16 PI4KA PLP1 PNP POLG POLR3GL PPP1R15B PRPS1 PRUNE1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SDHA SDHAF1 SDHB SDHD SELENOI SLC19A3 SLC25A15 SLC30A10 SOX10 SP110 SPART SPG11 SPG21 SPG7 SQSTM1 SRPX2 TARDBP TBCE TBK1 TNFRSF11A TREX1 TRMT10A TTC19 VCP WDR45

Diseases (76) :OMIM:300100 ORPHA:139399 ORPHA:51 ORPHA:98889 ORPHA:313772 OMIM:614487 OMIM:260600 OMIM:270200 OMIM:207800 ORPHA:333 OMIM:606693 ORPHA:363654 OMIM:300166 ORPHA:79241 ORPHA:320370 ORPHA:289560 OMIM:105550 ORPHA:275872 OMIM:616053 ORPHA:423275 OMIM:617854 ORPHA:397725 OMIM:615643 ORPHA:444099 ORPHA:909 OMIM:277580 ORPHA:329308 OMIM:619338 ORPHA:1136 ORPHA:206448 ORPHA:206443 OMIM:612736 OMIM:231000 ORPHA:363722 ORPHA:2710 OMIM:164200 OMIM:302800 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:162210 OMIM:614877 ORPHA:280229 ORPHA:760 ORPHA:726 OMIM:619234 ORPHA:391408 ORPHA:99014 ORPHA:544469 ORPHA:3208 ORPHA:506353 OMIM:607483 OMIM:238970 ORPHA:309854 OMIM:613280 OMIM:609136 ORPHA:79124 ORPHA:101000 OMIM:275900 ORPHA:2822 OMIM:248900 ORPHA:35689 ORPHA:496756 OMIM:602080 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.