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hereditary sensory and autonomic neuropathy type 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary sensory and autonomic neuropathy type 6

MONDO:0013839

Also known as:DST hereditary sensory and autonomic neuropathyHSAN6familial dysautonomia with contractures

Overview

Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.

GeneticsAutosomal recessive · DST (chr 6)

ResearchLimited published research (6 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: Flexion contracture, Low muscle tone (hypotonia), and Neonatal hypotonia; and common findings: Stridor, Gastroesophageal reflux, Generalized hypotonia, and Bilateral vocal cord paresis and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	4	Flexion contracture, Low muscle tone (hypotonia), Generalized hypotonia

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.

DST encodes dystonin (7,570 aa). Cytoskeletal linker protein. Acts as an integrator of intermediate filaments, actin and microtubule cytoskeleton networks. Highest expression in Cervix Ectocervix (76.7 TPM) and Skin Not Sun Exposed Suprapubic (61.6 TPM).

Hereditary sensory and autonomic neuropathy type 6 is caused by mutations in the DST gene on chromosome 6.

DST is classified as a druggable target (Druggable Genome category) with score 8.7.

Diagnosis

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

Prognosis

Phenotype severity distribution: 3 always present features, 30 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 type 6.

6 publications have been identified in PubMed for hereditary sensory and autonomic neuropathy type 6. Research spans Basic Science / Preclinical (67%) and Case Report / Case Series (33%).

Recent Publications

Jacob M (2026). [PMID: 40497796](https://pubmed.ncbi.nlm.nih.gov/40497796/). *Brain : a journal of neurology*. [Basic Science / Preclinical]
Yoshioka N (2026). [PMID: 42028226](https://pubmed.ncbi.nlm.nih.gov/42028226/). *Front Neural Circuits*. [Basic Science / Preclinical]
Paul S (2025). [PMID: 41298403](https://pubmed.ncbi.nlm.nih.gov/41298403/). *Nature communications*. [Basic Science / Preclinical]
Munir A (2025). [PMID: 41253761](https://pubmed.ncbi.nlm.nih.gov/41253761/). *Human genome variation*. [Case Report / Case Series]
Ahmad R (2025). [PMID: 40938507](https://pubmed.ncbi.nlm.nih.gov/40938507/). *Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614653

Orphanet

European rare disease database

Orphanet:314381

GARD

Genetic and Rare Diseases Info Center

GARD:12987

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
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→Is there a patient registry I should consider joining?

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hereditary sensory and autonomic neuropathy type 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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