congenital insensitivity to pain syndrome, Marsili type
MONDO:0958106Mondo
Findings
No curated finding names congenital insensitivity to pain syndrome, Marsili type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Decreased corneal reflexHPOHP:0008000
- 6 of 6 reported patients
- Impaired temperature sensationHPOHP:0010829
- 6 of 6 reported patients · Infantile onset
- Pain insensitivityHPOHP:0007021
- 6 of 6 reported patients · Infantile onset
- Recurrent feverHPOHP:0001954
- 15 of 16 reported patients
- Corneal scarringHPOHP:0000559
- 0 of 6 reported patients
- Lacrimation abnormalityHPOHP:0000632
- 0 of 6 reported patients
- HeadacheHPOHP:0002315
- HypohidrosisHPOHP:0000966
- Painless fractures due to injuryHPOHP:0002661
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.
- HGNC:20152HGNC:20152
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Illumina · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
Other names
5 names
Resolves to: congenital insensitivity to pain syndrome, Marsili type
- Also called
- congenital analgesia, autosomal dominantindifference to pain, congenital, autosomal dominantinsensitivity to pain, congenital, autosomal dominantMARSILI syndromeMARSIS