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giant axonal neuropathy 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

giant axonal neuropathy 2

MONDO:0012411

Also known as:CMT2 with giant axonsDCAF8 giant axonal neuropathyHMSN2 with giant axons

Overview

Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.

GeneticsAutosomal dominant · DCAF8 (chr 1)

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: Hyporeflexia, EMG: chronic denervation signs, Peripheral axonal neuropathy, and Steppage gait and 10 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Hyporeflexia, Peripheral axonal neuropathy, Steppage gait

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.

DCAF8 encodes DDB1 and CUL4 associated factor 8 (597 aa). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex Highest expression in Thyroid (121.7 TPM) and Nerve Tibial (116.4 TPM).

Giant axonal neuropathy 2 is associated with mutations in the DCAF8 gene on chromosome 1.

DCAF8 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DCAF8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for giant axonal neuropathy 2 has been reported in the published literature.

Prognosis

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 giant axonal neuropathy 2.

7 publications have been identified in PubMed for giant axonal neuropathy 2. Research spans Epidemiology / Natural History (33%), Diagnostic / Biomarker (17%), and Case Report / Case Series (17%).

Recent Publications

Goel K (2026). [PMID: 41841654](https://pubmed.ncbi.nlm.nih.gov/41841654/). *Ann Indian Acad Neurol*. [Case Report / Case Series]
Hobara T (2025). [PMID: 40668264](https://pubmed.ncbi.nlm.nih.gov/40668264/). *J Neurol*. [Epidemiology / Natural History]
Paumier JM (2025). [PMID: 40059823](https://pubmed.ncbi.nlm.nih.gov/40059823/). *JCI Insight*. [Basic Science / Preclinical]
Armao D (2025). [PMID: 40878963](https://pubmed.ncbi.nlm.nih.gov/40878963/). *Muscle Nerve*. [Diagnostic / Biomarker]
Zielen S (2024). [PMID: 39152028](https://pubmed.ncbi.nlm.nih.gov/39152028/). *Lancet Neurol*. [Clinical Trial Publication]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610100

Orphanet

European rare disease database

Orphanet:401964

GARD

Genetic and Rare Diseases Info Center

GARD:12447

Questions for Your Care Team

→Should I pursue genetic testing for DCAF8, 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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giant axonal neuropathy 2

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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