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neuronopathy, distal hereditary motor, autosomal dominant 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, autosomal dominant 11

MONDO:0957875

Overview

GeneticsAutosomal dominant · SPTAN1 (chr 9)

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: Peripheral axonal neuropathy, Achilles tendon contracture, Difficulty climbing stairs, and Low muscle tone (hypotonia) and others; and common findings: Areflexia of lower limbs. 45 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Peripheral axonal neuropathy, Motor axonal neuropathy, Hyporeflexia of upper limbs

Genetic Landscape

SPTAN1 function has not been fully characterized.

Neuronopathy, distal hereditary motor, autosomal dominant 11 is associated with mutations in the SPTAN1 gene on chromosome 9.

Diagnosis

Genetic testing for SPTAN1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 42 always present features, 1 common feature.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620528

Questions for Your Care Team

→Should I pursue genetic testing for SPTAN1, 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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neuronopathy, distal hereditary motor, autosomal dominant 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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