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neuropathy, hereditary sensory, type 1F - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuropathy, hereditary sensory, type 1F

MONDO:0014286

Also known as:ATL3 hereditary sensory and autonomic neuropathy type 1HSN1Fhereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3

Overview

Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.

GeneticsAutosomal dominant · ATL3 (chr 11)

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: Sensory axonal neuropathy; and very common findings: Hypoesthesia, Hallux valgus, and Impaired pain sensation. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Sensory axonal neuropathy, Neuropathic arthropathy, Hyporeflexia of lower limbs

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.

ATL3 encodes atlastin GTPase 3 (541 aa). Atlastin-3 (ATL3) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. Highest expression in Artery Tibial (123.9 TPM) and Artery Aorta (110.5 TPM).

Neuropathy, hereditary sensory, type 1F has been associated with mutations in the ATL3 gene on chromosome 11.

ATL3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ATL3 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for neuropathy, hereditary sensory, type 1F has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 2 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, type 1F.

89 publications have been identified in PubMed for neuropathy, hereditary sensory, type 1F. Research spans Case Report / Case Series (37%), Basic Science / Preclinical (20%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Patient case studies	29	37%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615632

GARD

Genetic and Rare Diseases Info Center

GARD:15995

Questions for Your Care Team

→Should I pursue genetic testing for ATL3, 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?

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Kisho

neuropathy, hereditary sensory, type 1F

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neuropathy, hereditary sensory, type 1F

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications