Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

neuropathy, hereditary sensory and autonomic, type 1C - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuropathy, hereditary sensory and autonomic, type 1C

MONDO:0013337

Also known as:HSAN1Chereditary sensory and autonomic neuropathy type ICHSAN 1C

Overview

A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.

GeneticsAutosomal dominant · SPTLC2 (chr 14)

ResearchLimited published research (1 article)

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: Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Distal upper limb muscle weakness, and Distal lower limb muscle weakness and others; and very common findings: Distal muscle weakness. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	7	Impaired vibration sensation in the lower limbs, Distal upper limb muscle weakness, Distal lower limb muscle weakness

Genetic Landscape

SPTLC2 function has not been fully characterized.

Neuropathy, hereditary sensory and autonomic, type 1C is caused by mutations in the SPTLC2 gene on chromosome 14.

Diagnosis

Genetic testing for SPTLC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 1 very common feature, 3 common features.

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 neuropathy, hereditary sensory and autonomic, type 1C.

1 publication has been identified in PubMed for neuropathy, hereditary sensory and autonomic, type 1C. Research spans Case Report / Case Series (100%).

Recent Publications

Ahmad R (2025). [PMID: 40938507](https://pubmed.ncbi.nlm.nih.gov/40938507/). *Neurol Sci*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613640

GARD

Genetic and Rare Diseases Info Center

GARD:15683

Questions for Your Care Team

→Should I pursue genetic testing for SPTLC2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

neuropathy, hereditary sensory and autonomic, type 1C

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features