neuronopathy, distal hereditary motor, type 5B
Findings
No curated finding names neuronopathy, distal hereditary motor, type 5B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013884), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Early young adult onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent Achilles reflexHPOHP:0003438
- 4 of 4 reported patients
- Decreased motor nerve conduction velocityHPOHP:0003431
- 3 of 3 reported patients
- Pes cavusHPOHP:0001761
- 4 of 4 reported patients
- Thenar muscle atrophyHPOHP:0003393
- 4 of 4 reported patients
- Peroneal muscle atrophyHPOHP:0009049
- 3 of 4 reported patients
- Peroneal muscle weaknessHPOHP:0011727
- 3 of 4 reported patients
- Decreased patellar reflexHPO
Genes
1 gene
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.
- REEP1HGNC:25786
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
2 names
Resolves to: neuronopathy, distal hereditary motor, type 5B
- Also called
- neuronopathy, distal hereditary motor caused by mutation in REEP1REEP1 neuronopathy, distal hereditary motor