congenital insensitivity to pain-hypohidrosis syndrome
Findings
No curated finding names congenital insensitivity to pain-hypohidrosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.
Definition from the Mondo Disease Ontology (MONDO:0014662), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
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.
- Impaired temperature sensationHPOHP:0010829
- 21 of 21 reported patients
- Pain insensitivityHPOHP:0007021
- 21 of 21 reported patients
- Recurrent skin infectionsHPOHP:0001581
- 16 of 20 reported patients
- Corneal scarringHPOHP:0000559
- 15 of 20 reported patients
- Decreased lacrimationHPOHP:0000633
- 9 of 19 reported patients
- HypohidrosisHPOHP:0000966
- 9 of 20 reported patients
- HypoesthesiaHPOHP:0033748
Show the remaining 3
- HyposmiaHPOHP:0004409
- 0 of 18 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 0 of 20 reported patients
- Corneal ulcerationHPOHP:0012804
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.
- PRDM12HGNC:13997
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: congenital insensitivity to pain-hypohidrosis syndrome
- Also called
- hereditary sensory and autonomic neuropathy type 8hereditary sensory and autonomic neuropathy type VIIIHSAN8