Human Phenotype Ontology 
Grandparent Node:
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Spasticity (HP:0001257)help
Parent Node:
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Progressive spasticity (HP:0002191)help
..Starting node
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Progressive spastic quadriplegia (HP:0002478)help
Term ID: 2478
Name: Progressive spastic quadriplegia
Synonym: Progressive spastic quadriparesis
Definition:
Comments:
Reference: HP:0002478
Genes and Diseases:
 
       Child Nodes:
........expandSlowly progressive spastic quadriparesis (HP:0006983) 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:0002478HP:0002478Progressive spastic quadriplegia0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0002478HP:0002478Progressive spastic quadriplegia0ARG1 CL E G H383663OMIM:207800Argininemia.31
HP:0002478HP:0002478Progressive spastic quadriplegia0ARG1 CL E G H383663ORPHA:90ArgininemiaHP:0040282 - Frequent31
HP:0002478HP:0002478Progressive spastic quadriplegia0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0002478HP:0002478Progressive spastic quadriplegia0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040282 - Frequent100
HP:0002478HP:0002478Progressive spastic quadriplegia0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0002478HP:0002478Progressive spastic quadriplegia0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040281 - Very frequent69
HP:0002478HP:0002478Progressive spastic quadriplegia0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0002478HP:0002478Progressive spastic quadriplegia0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040284 - Very rare231
HP:0002478HP:0002478Progressive spastic quadriplegia0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0002478HP:0002478Progressive spastic quadriplegia0PLP1 CL E G H53549086ORPHA:280234Null syndromeHP:0040283 - Occasional60
HP:0002478HP:0002478Progressive spastic quadriplegia0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002478HP:0002478Progressive spastic quadriplegia0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0002478HP:0002478Progressive spastic quadriplegia0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA


Genes (12) :ACP5 ARG1 ARSA ATP13A2 FA2H GM2A NADK2 PAFAH1B1 PLAA PLP1 PSAP SPTBN1

Diseases (13) :OMIM:607944 OMIM:207800 ORPHA:90 ORPHA:309271 ORPHA:513436 ORPHA:329308 ORPHA:309246 ORPHA:431361 ORPHA:95232 ORPHA:521426 ORPHA:280234 OMIM:312080 OMIM:619475
 

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