neuropathy, hereditary sensory, type 2C
Findings
No curated finding names neuropathy, hereditary sensory, type 2C 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 KIF1A gene.
Definition from the Mondo Disease Ontology (MONDO:0013634), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Juvenile onset · Progressive
HPO, annotations 2026-09-02
Features
13 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
- 8 of 8 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 8 of 8 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 4 of 4 reported patients
- Autoamputation of digitsHPOHP:0007460
- 7 of 8 reported patients
- Impaired distal proprioceptionHPOHP:0006858
- 6 of 8 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 6 of 8 reported patients
- Areflexia of lower limbsHPO
Show the remaining 1
- HyporeflexiaHPOHP:0001265
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.
- KIF1AHGNC:888
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
3 names
Resolves to: neuropathy, hereditary sensory, type 2C
- Also called
- hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1AHSN2CKIF1A hereditary sensory and autonomic neuropathy type 2