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hereditary sensory and autonomic neuropathy with spastic paraplegia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary sensory and autonomic neuropathy with spastic paraplegia

MONDO:0009748

Also known as:HSAN with spastic paraplegianeuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive

Overview

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia.

GeneticsAutosomal recessive · CCT5 (chr 5)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Atrophy of the spinal cord, Spastic gait, Decreased circulating apolipoprotein B concentration, and Decreased amplitude of sensory action potentials and others; and very common findings: Distal sensory impairment of all modalities, Spastic paraplegia, Overactive reflexes (hyperreflexia), and Spasticity and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CCT5 encodes chaperonin containing TCP1 subunit 5 (541 aa). Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of actin, tubulin and other proteins upon ATP hydrolysis. Highest expression in Cells Cultured fibroblasts (241.9 TPM) and Cells EBV-transformed lymphocytes (237.7 TPM).

Hereditary sensory and autonomic neuropathy with spastic paraplegia is associated with mutations in the CCT5 gene on chromosome 5.

CCT5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CCT5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 9 very common features, 7 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hereditary sensory and autonomic neuropathy with spastic paraplegia.

5 publications have been identified in PubMed for hereditary sensory and autonomic neuropathy with spastic paraplegia. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Recent Publications

Mercan M (2025). [PMID: 40085521](https://pubmed.ncbi.nlm.nih.gov/40085521/). *Amyotrophic lateral sclerosis & frontotemporal degeneration*. [Case Report / Case Series]
Hashiguchi A (2025). [PMID: 40350641](https://pubmed.ncbi.nlm.nih.gov/40350641/). *Brain and nerve = Shinkei kenkyu no shinpo*. [Review / Meta-Analysis]
Zubair U (2025). [PMID: 39807687](https://pubmed.ncbi.nlm.nih.gov/39807687/). *Annals of clinical and translational neurology*. [Case Report / Case Series]
Aloisio S (2025). [PMID: 40824590](https://pubmed.ncbi.nlm.nih.gov/40824590/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:256840

Orphanet

European rare disease database

Orphanet:139578

GARD

Genetic and Rare Diseases Info Center

GARD:16959

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hereditary sensory and autonomic neuropathy with spastic paraplegia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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