hereditary peripheral neuropathy
MONDO:0020127Mondo
Findings
No curated finding names hereditary peripheral neuropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.
Definition from the Mondo Disease Ontology (MONDO:0020127), read 2026-09-29. CC BY 4.0.
Genes
9 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- IGHMBP2HGNC:5542
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- PLEKHG5HGNC:29105
- Strong · PanelApp Australia · Autosomal recessive · 2025
- SARS1HGNC:10537
- Strong · PanelApp Australia · Autosomal dominant · 2025
- SCN9AHGNC:10597
- Strong · PanelApp Australia · Semidominant · 2025
- ARHGEF10HGNC:14103
- Limited · Ambry Genetics · Autosomal dominant · 2025
- BANF1HGNC:17397
- Limited · PanelApp Australia · Autosomal dominant · 2025
- IQGAP3HGNC:20669
- Limited · PanelApp Australia · Autosomal dominant · 2025
- KBTBD13HGNC:37227
- Limited · PanelApp Australia · Autosomal recessive · 2025
- TRPA1HGNC:497
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- Narrower terms (65)
- abetalipoproteinemia
- adrenomyeloneuropathy
- adult polyglucosan body disease
- amyotrophic neuralgia
- ataxia - oculomotor apraxia type 4
- attenuated Chédiak-Higashi syndrome
- beta-mannosidosis
- biotinidase deficiency
- carpal tunnel syndrome
- cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- cerebrotendinous xanthomatosis
- Charcot-Marie-Tooth disease
- Charcot-Marie-Tooth disease type 5
- Chediak-Higashi syndrome
- coenzyme Q10 deficiency
- congenital trigeminal anesthesia
- distal hereditary motor neuropathy
- familial amyloid neuropathy
- familial episodic pain syndrome
Other names
1 name
Resolves to: hereditary peripheral neuropathy
- Also called
- genetic peripheral neuropathy