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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.
Features include always present findings: Painless fractures due to injury, Pain insensitivity, Peripheral neuropathy, and Impaired pain sensation; and common findings: Diarrhea, Hand tremor, Impaired vibratory sensation, and Impaired temperature sensation and others. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 5 | Painless fractures due to injury, Septic arthritis, Recurrent fractures |
Brain and nerves | 3 | Hand tremor, Mild intellectual disability, Peripheral neuropathy |
Digestive system | 2 | Diarrhea, Constipation |
Arms and legs | 1 | Hand tremor |
Skin | 1 | Anhidrosis |
Kidneys and urinary system | 1 | Urinary incontinence |
Metabolism | 1 | Recurrent fever |
NGF encodes nerve growth factor (241 aa). Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems. Highest expression in Ovary (33.5 TPM) and Artery Aorta (30.0 TPM).
Hereditary sensory and autonomic neuropathy type 5 is associated with mutations in the NGF gene on chromosome 1.
The NGF protein participates in NGF ligand:p75NTR:NRIF:TRAF6 pathway.
NGF is classified as a druggable target (Druggable Genome, Growth Factor, and Kinase categories) with score 17.4.
Genetic testing for NGF is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 11 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for hereditary sensory and autonomic neuropathy type 5.
4 publications have been identified in PubMed for hereditary sensory and autonomic neuropathy type 5. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).
Ren Y (2026). [PMID: 42033181](https://pubmed.ncbi.nlm.nih.gov/42033181/). *Eur J Neurol*. [Basic Science / Preclinical]
Li J (2025). [PMID: 40205342](https://pubmed.ncbi.nlm.nih.gov/40205342/). *BMC anesthesiology*. [Case Report / Case Series]
Rodríguez-Blanque R (2024). [PMID: 38929791](https://pubmed.ncbi.nlm.nih.gov/38929791/). *Journal of personalized medicine*. [Review / Meta-Analysis]
Sreenivasan V (2024). [PMID: 38659257](https://pubmed.ncbi.nlm.nih.gov/38659257/). *Paediatrics and international child health*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center