hereditary sensory and autonomic neuropathy type 2

MONDO:0019941Mondo

Findings

No curated finding names hereditary sensory and autonomic neuropathy type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.

Definition from the Mondo Disease Ontology (MONDO:0019941), read 2026-09-29. CC BY 4.0.

Features

15 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.

Abnormal cortical bone morphologyHPOHP:0003103
- Very frequent (80% to 99% of cases)
Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
Abnormal hip bone morphologyHPOHP:0003272
- Very frequent (80% to 99% of cases)
Abnormality of the ankleHPOHP:0003028
- Very frequent (80% to 99% of cases)
Abnormality of the kneeHPOHP:0002815
- Very frequent (80% to 99% of cases)
Dystrophic fingernailsHPOHP:0008391
- Very frequent (80% to 99% of cases)
Dystrophic toenailHPOHP:0001810
- Very frequent (80% to 99% of cases)
Foot acroosteolysisHPOHP:0001842
- Very frequent (80% to 99% of cases)
HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
HyperlordosisHPOHP:0003307
- Very frequent (80% to 99% of cases)
OsteolysisHPOHP:0002797
- Very frequent (80% to 99% of cases)
Reduced bone mineral densityHPOHP:0004349
- Very frequent (80% to 99% of cases)

Show the remaining 3

Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
Tapered fingerHPOHP:0001182
- Very frequent (80% to 99% of cases)
Wormian bonesHPOHP:0002645
- Very frequent (80% to 99% of cases)

Genes

4 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.

KIF1AHGNC:888
- Supportive · Orphanet · Autosomal recessive · 2021
RETREG1HGNC:25964
- Supportive · Orphanet · Autosomal recessive · 2021
SCN9AHGNC:10597
- Supportive · Orphanet · Autosomal recessive · 2021
WNK1HGNC:14540
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: hereditary sensory and autonomic neuropathy
Narrower terms (3): neuropathy, hereditary sensory and autonomic, type 2A
neuropathy, hereditary sensory and autonomic, type 2B
neuropathy, hereditary sensory, type 2C

Other names

4 names

Resolves to: hereditary sensory and autonomic neuropathy type 2

Also called: autosomal recessive sensory radicular neuropathyHereditary Sensory and Autonomic Neuropathy Type IIHSAN2neurogenic acroosteolysis