hereditary sensory and autonomic neuropathy with spastic paraplegia
Findings
No curated finding names hereditary sensory and autonomic neuropathy with spastic paraplegia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.
Definition from the Mondo Disease Ontology (MONDO:0009748), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Atrophy of the spinal cordHPOHP:0006827
- 2 of 2 reported patients
- Babinski signHPOHP:0003487
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- ClonusHPOHP:0002169
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- 4 of 4 reported patients
- Decreased circulating apolipoprotein B concentrationHPOHP:0034075
- 2 of 2 reported patients
- Distal amyotrophyHPOHP:0003693
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 15
- Impaired pain sensationHPOHP:0007328
- Very frequent (80% to 99% of cases)
- Peripheral neuropathyHPOHP:0009830
- Very frequent (80% to 99% of cases)
- Skin ulcerHPOHP:0200042
- Very frequent (80% to 99% of cases)
- Spastic paraplegiaHPOHP:0001258
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Abnormal spinal cord morphologyHPOHP:0002143
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CCT5HGNC:1618
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
1 name
Resolves to: hereditary sensory and autonomic neuropathy with spastic paraplegia
- Also called
- HSAN with spastic paraplegia