neuropathy, hereditary sensory and autonomic, type 2B
Findings
No curated finding names neuropathy, hereditary sensory and autonomic, type 2B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013142), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- Acral ulcerationHPOHP:0006121
- 4 of 4 reported patients
- Acroosteolysis of distal phalanges (feet)HPOHP:0001870
- 3 of 3 reported patients
- Frequent fallsHPOHP:0002359
- 4 of 4 reported patients
- Hyperactive deep tendon reflexesHPOHP:0006801
- 4 of 4 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 3 of 3 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
- 4 of 4 reported patients
- Scissor gaitHPO
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.
- RETREG1HGNC:25964
- Definitive · G2P · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: neuropathy, hereditary sensory and autonomic, type 2B
- Also called
- hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1HSAN2BRETREG1 hereditary sensory and autonomic neuropathy type 2