hereditary sensory and autonomic neuropathy type 5
Findings
No curated finding names hereditary sensory and autonomic neuropathy type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.
Definition from the Mondo Disease Ontology (MONDO:0012092), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
25 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.
- Impaired pain sensationHPOHP:0007328
- 3 of 3 reported patients
- Pain insensitivityHPOHP:0007021
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Painless fractures due to injuryHPOHP:0002661
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- 3 of 3 reported patients
- Abnormal gingiva morphologyHPOHP:0000168
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
Show the remaining 13
- Poor wound healingHPOHP:0001058
- Frequent (30% to 79% of cases)
- ArthropathyHPOHP:0003040
- 1 of 3 reported patients
- ConstipationHPOHP:0002019
- 1 of 3 reported patients
- DiarrheaHPOHP:0002014
- 1 of 3 reported patients
- Hand tremorHPOHP:0002378
- 1 of 3 reported patients
- Impaired vibratory sensationHPOHP:0002495
- 1 of 3 reported patients
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.
- NGFHGNC:7808
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary sensory and autonomic neuropathy type 5
- Also called
- autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGFcongenital insensitivity to pain and thermal analgesiahereditary sensory and autonomic neuropathy type VHSAN5NGF autosomal recessive hereditary sensory and autonomic neuropathy