Trait
Appendicular spasticity
A type of spasticity that affects one or more limbs (arms or legs).
Summary
- Also called
- Extremity spasticity, Limb spasticity, Spastic extremities, Spastic limb, Spastic limbs, Spasticity of extremities, Spasticity of extremity, Spasticity of limbs
Reference genomeGRCh38hg38
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Get my Genome Test34 genes linked to Appendicular spasticity
Changes in these genes cause rare conditions in which Appendicular spasticity is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ACER3alkaline ceramidase 3 | Always | In 1 condition |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Always | In 1 condition |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Always | In 1 condition |
| CAMLGcalcium modulating ligand | Always | In 1 condition |
| CAPN1calpain 1 | Always | In 1 condition |
| DNM1dynamin 1 | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
| GLYCTKglycerate kinase | Always | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KIF1Akinesin family member 1A | Always | In 1 condition |
| KLHL20kelch like family member 20 | Always | In 1 condition |
| NOTCH3notch receptor 3 | Always | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Always | In 1 condition |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Always | In 1 condition |
| SPTSSAserine palmitoyltransferase small subunit A | Always | In 2 conditions |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Always | In 1 condition |
| TRAPPC12trafficking protein particle complex subunit 12 | Always | In 1 condition |
| ISCA2iron-sulfur cluster assembly 2 | Very often (80–99%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Often (30–79%) | In 1 condition |
| FCSKfucose kinase | Often (30–79%) | In 1 condition |
| GTPBP2GTP binding protein 2 | Often (30–79%) | In 1 condition |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| SLC4A10solute carrier family 4 member 10 | Often (30–79%) | In 1 condition |
| TEFMtranscription elongation factor, mitochondrial | Often (30–79%) | In 1 condition |
| ATN1atrophin 1 | Sometimes (5–29%) | In 1 condition |
| DPH5diphthamide biosynthesis 5 | Sometimes (5–29%) | In 1 condition |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Sometimes (5–29%) | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Sometimes (5–29%) | In 1 condition |
| PGBD5piggyBac transposable element derived 5 | Sometimes (5–29%) | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| TSEN15tRNA splicing endonuclease subunit 15 | Sometimes (5–29%) | In 1 condition |
| NSRP1nuclear speckle splicing regulatory protein 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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